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Table S1. Studies of epigenetic variation in MZ twin pairs. Reference sample age tissue Method objective findings Baranzini et al 2010. Nature. 3 MS- discordant twin pairs (1 male and 2 female) Adults CD4 + lymphocytes isolated from peripheral blood Illumina GAIIx instruments Examine methylation differences in MZ twins discordant for multiple sclerosis. 2-176 methylation differences between CpG dinucleotides were detected between siblings of the three twin pairs, while methylation differences were found at 800 sites between T cells of unrelated individuals. Byrne et al 2013. Transl Psychiatry. 12 MZ twin pairs (6 female and 6 male) discordant for MDD; 12 MZ twin pairs concordant for no MDD and low neuroticism (6 male and 6 female) Not reported White blood cells Illumina Human Methylation450 BeadChip Investigate whether specific methylation profiles in white blood cells could contribute to the aetiology of MDD. 1) No overall difference was shown in mean global methylation between MDD cases and their unaffected co-twins. For females specifically, cases showed overall lower methylation when compared to controls. 2) Differences in variance between cases and their unaffected co-twins were highly significant with 52.4% of probes having higher variance in cases (both in males and females). 3) The most significant probe was cg15083522 upstream of the MAST4 gene. 4) MAD1L1 was the only gene identified that had previously been implicated in the aetiology of mood disorders. The third most significant probe was located on the MAD1L1 gene. Dempster et al 2011. Human Molecular Genetics 22 MZ twin pairs discordant for major psychosis (SZ; BD) Adults peripheral blood Illumina Infinitium HumanMethylatio n27 Beadchip; Sequenom EpiTYPER for validation Search for genome-wide differences in DNA methylation between MZ twins discordant for SZ and BD. 1) There were numerous loci demonstrating disease-associated DNA methylation differences between twins discordant for SZ and BD individually, and together as a combined major psychosis group. 2) The pathway analysis of top loci found significant enrichment of epigenetic changes in biological networks implicated in psychiatric disorder and neurodevelopment (i.e. promoter of ST6GALNAC1). 3) There was considerable heterogeneity between families at ST6GALNAC1.

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Table S1. Studies of epigenetic variation in MZ twin pairs.

Reference sample age tissue Method objective findings

Baranzini et al 2010. Nature.

3 MS-discordant twin pairs (1 male and 2 female)

Adults CD4+ lymphocytes isolated from peripheral blood

Illumina GAIIx instruments

Examine methylation differences in MZ twins discordant for multiple sclerosis.

2-176 methylation differences between CpG dinucleotides were detected between siblings of the three twin pairs, while methylation differences were found at 800 sites between T cells of unrelated individuals.

Byrne et al 2013. Transl Psychiatry.

12 MZ twin pairs (6 female and 6 male) discordant for MDD; 12 MZ twin pairs concordant for no MDD and low neuroticism (6 male and 6 female)

Not reported

White blood cells Illumina Human Methylation450 BeadChip

Investigate whether specific methylation profiles in white blood cells could contribute to the aetiology of MDD.

1) No overall difference was shown in mean global methylation between MDD cases and their unaffected co-twins. For females specifically, cases showed overall lower methylation when compared to controls.2) Differences in variance between cases and their unaffected co-twins were highly significant with 52.4% of probes having higher variance in cases (both in males and females).3) The most significant probe was cg15083522 upstream of the MAST4 gene.4) MAD1L1 was the only gene identified that had previously been implicated in the aetiology of mood disorders. The third most significant probe was located on the MAD1L1 gene.

Dempster et al 2011. Human Molecular Genetics

22 MZ twin pairs discordant for major psychosis (SZ; BD)

Adults peripheral blood Illumina Infinitium HumanMethylation27 Beadchip; Sequenom EpiTYPER for validation

Search for genome-wide differences in DNA methylation between MZ twins discordant for SZ and BD.

1) There were numerous loci demonstrating disease-associated DNA methylation differences between twins discordant for SZ and BD individually, and together as a combined major psychosis group.2) The pathway analysis of top loci found significant enrichment of epigenetic changes in biological networks implicated in psychiatric disorder and neurodevelopment (i.e. promoter of ST6GALNAC1).3) There was considerable heterogeneity between families at ST6GALNAC1.

Gervin et al 2012. Plos Genetics.

27 MZ pairs discordant for psoriasis

Not reported

CD4+ and CD8+ cells

Illumina Infinitium HumanMethylation27 Beadchip for methylation and HT-12 expression assay for gene expression.

Search for genome-wide differences in DNA methylation and gene expression in MZ twins discordant for psoriasis.

1) DNA methylation of both CD4+ and CD8+ cells was highly correlated within MZ twins pairs. Greater similarity was found within twins than among unrelated strangers.2) When assessing methylation and gene expression independently, no genome-wide differences were found between co-twins, although many small differences were present.2) Combined analysis of methylation and gene expression identified genes where DNA methylation discordance between affected and non-affected twins was correlated with gene expression discordance.3) Discordance was enriched in genes involved in biological processes associated with the immune system.

Gordon et al 250 mothers and Birth HUVECs, CBMCs Illumina Human WG-6 1) Assess genome-wide expression 1) There was lower median leading log fold change in

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2011. Epigenetics.

newborn twin pairs v2 expression BeadChips

discordance within MZ twin pairs at birth and identify the genes/groups of genes that display the greatest variability within each tissue, and assess the pair-specific environment effects on expression discordance.2) Identify genes whose expression levels correlate with BW.

both CBMCs and HUVECs in monochorionic twins compared to dichorionic twins.2) No relationship was found between expression discordance and BW or sex.3) The median discordance was found to be greater for genetically different individuals compared to MZ twin pairs.4) Adult tissues showed higher discordance than tissues at birth.5) The most discordant genes between co-twins were consistent across a wider collection of twin pairs (both HUVECs and CBMCs).6) Genes related to the response to stimuli and the immune system were most discordant within twin pairs.7) There were several genes linked to BW in HUVECs (metabolic process, prostaglandin metabolism, nucleic acid metabolism) but none in CBMCs.

Gordon et al 2012. Genome Res.

22 MZ pairs; 12 DZ pairs

birth cord blood CBMCs; HUVECs; placenta

Illumina Infinium HumanMethylation27 BeadChip array

1) Measure the level of DNA methylation variation in 3 tissues from MZ and DZ twins collected at birth.2) Estimate the contribution of genetics and the common and unique environment to DNA methylation profiles.3) Identify gene pathways and networks subject to epigenetic change in association with BW.

1) Twins within the same pair did not always cluster together and the proportion of within-pair clustering varied considerably across tissues.2) A greater proportion of MZ pairs clustered together than DZ pairs, and MZ pairs showed greater median within-pair similarity than DZ pairs.3) Dichorionic pairs were generally more similar than monochorionic pairs.4) Mean absolute methylation levels and within-pair methylation discordance increased as a function of distance from CpG islands (all tissues, both MZ/DZ).5) Genes associated with development and morphogenesis were the most discordant, followed by genes involved in response to environment and cell cycle/division.6) A small number of genes were associated with BW, and these were implicated in metabolism, growth and cardiovascular disease).8) The association of BW with methylation level is regional rather than than localized to specific CpG sites.

Harris et al 2012. Inflamm Bowel Dis

A) 4 MZ twin pairs concordant for CD, 3 concordant for UC, 4 discordant for CD and 7 discordant for UC.B) 4 MZ twin pairs concordant for CD, 8 concordant for UD, 3 discordant for CD, 3 discordant for

A) Adults (22-56 y.o.)B) Adults + pediatric sample (3.5-18 y.o.)

peripheral blood leukocyte

A) custom made methylation specific amplification microarray (MSAM)B) Illumina Infinium HumanMethylation450 BeadChip array.

Assess whether DNA methylation is associated with inflammatory bowel diseases (IBD).

1) None of the discordant MZ twin comparisons identified genes associated with IBD using MSAM method or Illumina.2) In a selective bioinformatics analysis of samples from the Baylor College of Medicine cohort one gene was found to be associated with IBD (TEPP) when DNA was isolated selectively from peripheral blood mononuclear cells.

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UC, 14 controls.Harris et al 2013. Epigenetics

10 children without identifiable large intestinal disease.

children peripheral blood leukocytes and colonic mucosal DNA

Infinium HumanMethylation450 Beadchip

Examine the association between metastable epialleles (ME) candidates and gene expression.

1) 1776 CpG sites meeting criteria for MEs, which were associated with 1013 genes, were found.2) The list of ME candidates overlapped with recently identified genes in which DNA methylation levels were associated with maternal periconceptual nutrition.3) 118 of the ME candidates overlapped with genes where DNA methylation was correlated with gene expression in the colon mucosa of 5 independent control children.4) There was an overrepresentation of genes involved in homophilic cell adhesion and developmental processes.

Kaminsky et al 2008. Twin Res Hum Genet

One pair of MZ female twins differing for risk taking behavior.

49 y.o. peripheral blood microarray-based DNA methylation profiling

1) Assess whether high throughput microarray-based epigenetic profiling can reliably identify DNA methylation differences in normal twins and, if so, 2) what size and how many epigenetic differences can be detected.

1) 38 loci exhibited consistent statistically significant differences in DNA methylation.2) Gene ontology classification of the most significant genes within 10 kb of the CpG islands revealed that 23% were involved in transcriptional regulation, namely DLX1.

Kaminsky et al. 2009. Nature Genetics.

57 MZ and 40 DZ twin pairs

Adolescents (12-15 y.o.)

White blood cells, buccal epithelial cells, gut biopsies

12K CpG island microarray + validation by sodium bisulfite sequencing and pyrosequencing

Compare epigenetic similarities in MZ vs. DZ twins.

1) There was a large degree of MZ co-twin DNA methylation variation in all tissues.2) DNA methylation profiles from monochorionic MZ twin pairs were significantly more variable than dichorionic MZ pairs.3) Methylation differences were lower in MZ than DZ twins.

Li et al 2013. Mol Biol Rep.

22 MZ twin pairs (13 female and 9 male pairs)

17-74 y.o. blood Illumina Infinium Methylation27 Beadarray

Pilot study with the aim to identify potential CpG sites distinguishing MZ twins.

92 CpG sites distinguished methylation status in MZs.

Marsit et al 2013. Clinical Epigenetics.

4 twin pairs who survived TTTS + 6 sole survivors

Current ages of children ranged from 5 months to 8 years.

Peripheral blood (n=11) or saliva (n=14)

Illumina Infinium Methylation27 Beadarray

Investigate genome-wide DNA methylation profiles of childhood survivors of TTTS.

There was hypomethylation of the LINE1 repetitive element in blood of donor children, and subtle variations in genome-wide profiles of CpG specific methylation. This was most prominent at CpG sites which are targets for polycomb group repressive complexes.

Rakyan et al 2011. Plos Genet.

A) 15 MZ twin pairs discordant for childhood-onset Type 1 Diabetes (T1D).B) 9 additional discordant MZ pairs for replication.C) 7 singletons assessed before and after they presented with T1D.

A) children and young adultsB) children and young adultsC) healthy children and young adults

CD14+ monocytes

Illumina Infinium Methylation27 Beadarray

Identify epigenetic variation that could alter T1D susceptibility by potentially influencing the functions of key immune effector cells.

1) There were 132 CpG sies where within-pair DNA methylation discordance was associated with diabetic state (T1D-associated methylation variable positions: T1D-MVP) (58 hypermethylated and 74 hypomethylated) and these were confirmed in an independent sample of T1D-discordant MZ twin pairs.2) T1D-MVP associated genes (i.e. HLA-DQB1, RFXAP, NFKB1A, TNF and GAD2) were found to be implicated in immune response functions.3) T1D-MVPs were replicated in singletons both before and at disease diagnosis, and also in singletons positive for diabetes-associated autoantibodies but disease-free in independent datasets.

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Ribel-Madsen et al. 2012. PlosOne.

12 MZ twin pairs discordant for type 2 diabetes (T2D)

53-80 y.o. skeletal muscle (11 pairs), subcutaneous adipose tissue (5 pairs

Illumina Infinium Methylation27 Beadarray

Assess whether global DNA methylation differences exist in major glucose metabolic tissues from MZ twins discordant for type 2 diabetes.

1) The overall intra-pair variation in DNA methylation was large in repetitive (LINE1, D4Z4 and NBL2) regions compared to gene promoters.2) Increased variation of LINE1 sequence methylation, but not promoter methylation was associated with more discordance in BMI and 2-hour plasma glucose.3) Methylation changes were identified in promoters of known T2D-related genes (i.e. PPARGC1A in muscle and HNF4A in adipose tissue, both of which showed increased methylation in the T2D co-twins).

Souren et al 2013. Genome Biology.

17 MZ monochorionic female twins very discordant for BW.

34.4 ± 7.1 Saliva Illumina Infinium HumanMethylation450 BeadChip

Examine if adverse prenatal growth conditions experienced by the smaller co-twins is associated with long-lasting DNA methylation changes.

1) It was shown that co-twins show very similar genome-wide DNA methylation profiles.2) Among adjusted and unchanged CpGs, 3153 are differentially methylated between the heavy and light co-twins at nominal significance. Within these, 45 show sensible absolute mean β-value differences.3) Deep sulphite sequencing of eight such loci revealing that differences remain in the range of technical variation, arguing against a reproducible biological effect.

Stephan et al 2014. J Autoimmun

9 MZ twin pairs: 3 female discordant, 4 female concordant and 2 male pairs concordant for T1D

Children and adults:Diagnosis age was between 1-14 y.o. (median = 7 y.o.).Duration of T1D was 1-29 years (median 11 years).

lymphocyte cell lines

Illumina Infinium Methylation27 Beadarray

Identify the contribution of epigenetic factors, particularly DNA methylation, to the incomplete penetrance of T1D.

1) 88 CpGs sites displaying methylation changes in all T1D-discordant MZ twin pairs were identified.2) Genes with distinct CpG methylation profiles in the T1D samples between affected and unaffected twins were implicated in immune response and defense response pathways.3) Integration of DNA methylation data with GWAS data mapped several known T1D associated genes, HLA, INS, IL-2RB, CD226, which showed significant differences in DNA methylation between affected and unaffected twins.

Sugawara et al. 2011.Transl Psychiatry

A) 2 male MZ twin pairs discordant for BDB) 20 unrelated BD patients (12 male, 8 female) and 20 control subjects (16 male, 4 female) (all Japanese)3) post-mortem PFC (BA10) from 31 BD patients & 32 controls

A) 42 and 49B) BD (38.8 ± 13.1); CTL (38.5 ± 8.9)C) postmortem

Lymphoblastoid cell lines (LCL)

GeneChip Human Promoter 1.0R array; Real-time quantitative RT-PCR

1) Investigate promoter-wide DNA methylation in 2 MZ twin pairs discordant for BD.2) Perform a case-control analysis and confirm findings in a larger group.3) Test whether hypermethylation of SLC6A4 can also be observed in the brain.

1) A region on the CpG island shore 2-3 kb downstream of HTTLPR was hypermethylated in the BD twins compared to the healthy twins.2) DNA methylation at CpG3 and CpG4 was significantly higher in BD cases compared to controls.3) DNA methylation at CpG4 In the post-mortem brain was significantly higher BD patients compared to controls. CpG3 showed the same trend.

van Dongen et al 10 MZ twin pairs (5 8-19 y.o. buccal samples Illumina 450K array Investigate methylation level 1) In the entire sample, 44% of CpGs were

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2014. Genes (Basel).

young pairs (3 male and 2 female) and 5 adolescent pairs (2 male and 3 female))

(young: 8-10 y.o.; adolescent: 18-19 y.o.)

correlations in twins after quality control.

hypomethylated,15% were intermediately methylated and 41% were hypermethylated.2) All but one MZ twin clustered closely together.3) After selecting CpGs showing the most DNA methylation variation between subjects, the mean genome-wide correlation was 0.54. The correlation was on average higher within CpG islands compared to CpG shores, shelves and non-CGI regions.

Wong et al. 2014. Mol Psychiatry

50 MZ twin pairs (including pairs discordant and concordant for ASD, ASD-associated traits and no autistic phenotype.

children (ASD traits assessed at age 8).

whole blood Illumina Infinium Methylation27 Beadarray

Identify differentially methylated regions associated with ASD.

1) DNA methylation patterns were highly correlated in all twin pairs.2) ASD was not associated with systemic differences in global DNA methylation, but DNA methylation at individual CpG sites demonstrated considerable variability within ASD-discordant MZ twin pairs.3) The top DMR across ASD-discordant MZ twin pairs was located in the NFYC promoter and was consistently hypermethylated in affected individuals compared to their unaffected co-twins.4) The top-ranked DMR across all discordant twin pairs was located in the promoter region of PIK3C3 and was significantly hypomethylated in affected individuals compared with their unaffected co-twins.5) The top case-control ASD-associated DMR was located upstream of MGC3207 and was significantly hypomethylated in ASD cases compared to controls.

Yu et al 2012. PlosOne.

17 healthy MZ twin pairs discordant for intelligence (more than 1 SD, although all within the norm) (5 male)

21-31 yo Peripheral blood Model-based analysis of tiling arrays (MAT)

1) Identify genes that are discordant between co-twins.2) Confirm the methylation status, using sodium bisulfite, of 27 gene loci that were putatively identified as being differentially methylated.

1) ARHGAP18 hypomethylation was associated with increased expression levels in the lower IQ subject within the twin pair.2) Among the 27 candidate loci nominated by promoter-array-based methylation analyses, bisulphite sequencing validated two genes: ARHGAP18 and OR4D10.3) There was no gene that displayed significant expression level discordance across twins.

Studies assessing DNA methylation in MZ twins were included outside of imprinting control regions, whether genome-wide or of specific genes, from 2000 to the present.

ASD: autism spectrum disorder; BD: bipolar disorder; BMI: body mass index; BW: birth weight; CBMV: cord blood mononuclear cells; CD: Crohn disease; CGI: CpG island; CTL: control; DMR: differentially methylated region; DZ: dizygotic; GWAS: genome-wide association study; HUVEC: human umbilical vascular endothelial cells; IBD: inflammatory bowel diseases; IQ: intellectual quotient; MDD: major depressive disorder; MS: multiple sclerosis; MSAM: methylation specific amplification microarray; MZ: monozygotic; PFC: prefrontal cortex; SD: standard deviation; SZ: schizophrenia; T1D: type 1 diabetes; T2D: type 2 diabetes; TTTS: twin-twin transfusion syndrome; UC: ulcerative colitis;

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Table S2. Studies of epigenetic variation in association with age.Reference sample age tissue method objective findings

Alisch et al 2012. Genome Res.

A) 398 boys (siblings of ASD)B) replication in 78 healthy children

A) 3-17 years (mean: 10 y.o.)B) 1-16 years (mean: 5 y.o.)

peripheral blood 1) Illumina Infinium HumanMethylation27 BeadChips2) Illumina Infinium HumanMethylation450 BeadChips.

Investigate the normal variation of DNA methylation in a large pediatric cohort.

1) Age significant changes in DNA methylation were found at 2078 loci (1601 demethylated and 477 methylated with age).2) Comparison of results in the replication sample revealed a 62.7% overlap in significant CpG sites.3) They report a deficit of age-related loci on the X-chromosome, a preference for specific nucleotides immediately surrounding the interrogated CpG dinucleotide, and a primary association with developmental and immune ontological functions.

Bell et al 2012. Plos Genetics

A) 172 female MZ twinsB) 44 MZ twins (replication)

A) adults aged 32-80)B) adults aged 20-61 (replication)

Lymphoblastoid cell lines

Illumina Infinium HumanMethylation 27 BeadChips

Identify age-related epigenetic changes in healthy ageing as well as longevity.

1) The majority of autosomal CpG sites were un-methylated while X-chromosome CpG sites were predominantly hemi-methylated.2) Methylation levels were more similar in co-twins than strangers.3) The average whole blood autosomal genome-wide heritability rate was estimated at 18%.4) The EWAS identified age-related DMRs associated with LDL, lung function and maternal longevity.5) Analyses of MZ twin methylation differences identified one potential environmentally mediated DMR associated with total cholesterol and LDL (CSMD1).6) A large portion of DMRs were replicated in a younger sample.

Bjornsson et al 2008. JAMA.

A) Icelandic cohort: 111 participants from the AGES Reykjavik study sampled twice over 11 years.B) Utah cohort: 126 individuals sampled twice over 16 years.

A) Icelandic cohort sampled in 1991 and 2002-2005.B) Utah cohort sampled in 1982-1985 and 1997-2005.

Peripheral blood cells

LUminometric Methylation Assay (LUMA)

Evaluate global DNA methylation longitudinally.

29% of Icelandic individuals showed >10% methylation change over time; the family-based Utah sample also showed intra-individual changes over time, and further demonstrated familial clustering of methylation change.

Boks et al 2009. Plos One.

23 MZ twin pairs; 23 DZ pairs; 96 singletons

Adults (mean age for twins=40; mean age for singletons=34)

peripheral blood Illumina GoldenGate methylation assay

1) Assess whether it is feasible to measure DNA methylation levels in blood using commercially available assays.2) Assess whether previously reported effects of age, gender and genotype on DNA methylation levels were restricted to specific loci and whether effect sizes are large enough to be detected.

1) A total of 58 probes were significantly related to age.2) 96/431 CpG sites yielded significant heritability. 4) No meaningful methylation differences were found in the majority of CpG loci.

Christensen et Total n = 210 Various Bladder; infant Illumina GoldenGate 1) Investigate tissue-specific differences 1) Methylation profiles from unsupervised

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al 2009. Plos Genetics.

(various tissues, ages centers, both cancer patients and controls)

and adult blood; brain; cervix; head & neck; kidney; lung; placenta; pleura; small intestine.

methylation bead arrays + PCR

in DNA methylation.2) Distinguish how aging and exposures (asbestos, nicotine, alcohol) contribute to normal variation in methylation levels.

modelling showed significant association with age and tissue of origin.2) Methylation increased with age within CpG islands and decreased with age outside of CpG islands. This was consistent across tissues.

Davies et al 2012. Genome Biology.

A) 9 controls (5 female; 4 male)B) 42 additional individuals provided by London Neurodegenerative Diseases Brain Bank (33% female).

A) mean time of death: 86.7B) mean of 62 +/- 18 years

Cortex, cerebellum, blood

MeDIP + PCR + SeqMonk

Investigate normal methylomic differences occurring between functionally distinct brain areas and tissues.

1) There were distinct tissue-specific patterns of DNA methylation, and tissue-specific DMRs (TS-DMRs) observed at intragenic CpG islands and low density promoters were over-represented.2) Many of the TS-DMRs were located near genes that are differentially expressed across brain regions.3) TS-DMRs were associated with genes involved in neurodevelopment and neural differentiation, including BDNF and NGFR.4) Between-tissue DNA methylation variation exceeded between-individual differences within any one tissue, but there was some between-individual variation in brain and blood, supporting the relevance of assessing epigenetic mechanisms in peripheral tissues.

Essex et al 2013. Child Development.

109 adolescents studied longitudinally

15 y.o. buccal epithelial cells

Illumina Infinium HumanMethylation27 BeadChips

Determine if any differences exist in DNA methylation in relation to parental stress during the adolescents’ infancy and preschool periods.

1) DNA methylation was associated with both maternal and paternal stress during the adolescents’ infancy and preschool periods.2) The association of maternal stress in infancy with DNA methylation did not extend into the preschool years, while paternal stress during preschool was associated with increased DNA methylation in 31 CpG sites.3) Both genders showed differential DNA methylation in response to Increased exposure to maternal stress.4) In girls, maternal stress in infancy was associated with increased methylation of one CpG site. Paternal stress was linked to decreased methylation at three CpG sites.5) Only maternal stress in infancy was associated with increased DNA methylation among stress-exposed boys.

Fraga et al 2005. PNAS.

40 MZ twin pairs (15 male; 25 female)

3-74 (mean 30.6)

lymphocyte cells; epithelial skin cells; muscle biopsy tissues

Bisulfite genomic sequencing + PCR

Assess epigenetic patterns related to global and locus-specific DNA methylation and histone H3/H4 acetylation.

1) Greater differences in content and genomic distribution of 5-methylcyosine DNA and histone acetylation were found in older vs. younger MZ twins. This was especially true in those pairs with different environments/medical histories.2) Differential methylation was associated with different gene expression.

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Fuke et al 2004. Annals of Human Genetics.

A) 76 healthy individualsB) 39 placentas

A) 4-94 yearsB) various gestational ages

peripheral blood leukocytes

high performance liquid chromatography (HPLC)

Investigate inter-individual and age-dependent variation in global DNA methylation.

1) There was a small but significant age-dependent decrease of methylated cytosine in the aged group (mean 66 y.o.) compared to the young adult group (mean 19 y.o.).2) Males showed a subtle but significant higher mean methylated cytosine content than females.3) In contrast to the peripheral blood samples, DNA extracted from placentas exhibited gestational age-dependent increases of methylation levels (seemed to consist of 2 phases: a rapid increase during the first half of pregnancy followed by a more moderate increase until term) that was inversely correlation with the expression levels of human endogenous retroviruses.

Gomes et al 2012. PlosOne.

126 older individuals

60-88 y.o. leukocytes high-throughput ELISA-based method.

Evaluate the association of global DNA methylation with nutritional habits, tobacco smoking, BMI, clinical laboratory parameters, polymorphism C677T MTHFR, functional cognition and daily physical activity in cancer-free older adults.

1) Global DNA methylation was lower in older individuals.2) Methylation was correlated with the daily intake of carbohydrates, lipids, vitamin B6, Mg as well as the serum levels of total protein, alpha 2 globulin and albumin.3) Methylation was not associated with C677T MTHFR genotypes, BMI, smoking, physical activity, cognitive function or depressive symptoms.

Gronniger et al 2010. Plos Genetics.

A) 5 healthy malesB) 5 healthy femalesC) 10 healthy females

A) 26-35 y.o.B) 19-24 y.o.C) 18-72 y.o.

human skin Illumina Infinium HumanMethylation 27 BeadChips

Investigate the effects of aging, chronic sun exposure and tissue variation.

1) There was a high degree of tissue specificity in the methylation patterns and very little inter-individual variation within tissues.2) In older individuals, there was a specific DNA hypermethylation pattern affecting less than 1% of the markers analyzed.3) Genes associated with DMRs were mostly associated with the molecular and cellular characteristics of skin tissue development.4) Stratification by sun exposure produced a fundamentally different pattern with a significant trend towards hypomethylation.

Hannum et al 2013. Mol Cell.

A) 2 different cohorts of 482 and 174 individuals, to create and test the model, respectively.B) 368 individuals

19-101 y.o. A) whole bloodB) breast (83), kidney (183), lung (60) and skin (42) samples

HumanMethylation450 BeadChips

Build a quantitative model of aging, measuring the rate at which an individual's methylation ages.

1) The optimal model contained 71 methylation markers predictive of age. Nearly all lay within or near genes with known functions in aging-related conditions including Alzheimer's disease, cancer, tissue degradation, DNA damage and oxidative stress.2) Gender, but not BMI, was associated with rate of aging, with the methylome of men aging 4% faster than that of women.3) The aging model was effective in predicting chronological age in other tissues, although each tissue had a clear linear offset from the

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expectation. The offset was consistent within a tissue.4) Tumors appeared to have aged 40% more than matched normal tissue from the same individual.5) Differences in aging rates helped explain epigenetic drift and were reflected in the transcriptome.

Herbstman et al 2013. PlosOne.

165 children assessed at two time points

birth and age 3 cord blood leukocytes at birth and blood at age 3

Methylamp Global DNA Methylation Quantification Kit.

Characterize how global DNA methylation changes from birth to age 3 within a longitudinal birth cohort study and determine whether there are consistent predictors of DNA methylation levels measured 3 years apart.

1) On average, DNA methylation was significantly higher in blood at age 3 than in cord blood, but for any individual child, the difference was less than would be expected by change.2) Pre-pregnancy BMI was negatively associated with both cord and age 3 DNA methylation.

Hernandez et al 2011. Human Molecular Genetics.

387 individuals, of which:stage 1) tissue from frontal cortex, temporal cortex, pons and cerebellum from 150 human brainsstage 2) tissue from frontal cortex and cerebellum from 237 human brains

1-102 y.o.1) 16-101 y.o.2) 0.4-102 y.o.

human brain tissue

Illumina HumanMethylation27 BeadChips

Examine DNA methylation in frontal cortex, temporal cortex, pons and cerebellum and identify CpG loci that are associated with chronological age.

1) 1141 associations between DNA methylation at CpG sites and age were found in stage 1, with 10 CpG loci that were correlated with age in all 4 brain regions.2) An independent analysis in stage 2 confirmed all of these loci.3) The majority of age-related loci were situated within CpG islands and were physically close to genes involved in DNA binding and regulation of transcription.4) A cluster analysis revealed 6 clusters with strong enrichment for genes related to DNA binding, morphogenesis and regulation of transcription.

Heyn et al 2012. PNAS.

2 singletons 1 newborn; 1 centenarian

cord blood; CD4+ T cells

Illumina Infinium HumanMethylation450 BeadChips

Assess whether individuals at most extreme points in their lifespan have divergent DNA methylation.

1) Methylation of CpGs was decreased in the centenarian compared to the newborn.2) The hypomethylated CpGs in the centenarian covered all genomic regions (i.e. promoters, exons, introns and intergenic regions)3) The centenarian DNA showed more unmethylated CpGs at CpG-poor promoters and more methylated CpGs at CpG island promoters.

Johansson et al 2013. PlosOne.

421 individuals 14-94 White blood cells Infinium Human Methylation450 BeadChip

Examine the effects of chronological age on DNA methylation.

1) Age was shown to affect DNA methylation at 29% of the sites, of which 60.5% became hypomethylated and 39.5% became hypermethylated with increasing age.2) DNA methylation sites located within CpG islands more often become hypermethylated compared to sites outside CpG islands.3) CpG sites in promoters are less affected by age, whereas sites in enhancers more often become hypo- or hypermethylated.4) The hypermethylated sites are overrepresented among genes involved in DNA binding, transcription regulation, processes of anatomical

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structure, developmental process and cortex neuron differentiation.

Langevin et al 2011. Epigenetics.

A) 205 healthy subjectsB) 92 healthy subjects for validation

A) 28-74 yearsB) 32-68 years

peripheral blood Infinium Human Methylation27 BeadChip array

Analyze whole-genome autosomal methylation in blood of healthy subjects and assess the influence of age and exposures.

Methylation was associated with age as well as hair dye use.

Martino et al 2011. Epigenetics.

22 samples from 7 individuals (19 samples from females and 3 from males),

Birth, 1 year, 2.5 years and 5 years

Mononuclear cells

Illumina Infinium HumanMethylation27 BeadChip

Assess the extent to which individual genome-wide methylation profiles change with age in a longitudinal sample.

1) Genes that were variable over the neonatal period were associated with cell surface receptor and signal transduction events.2) Postnatally, methylation changes were mostly associated with the development of effector immune responses and homeostasis.

Martino et al 2013. Genome Biology

10 MZ and 5 DZ twin pairs

Birth and 18 months

Buccal epithelium

Illumina Infinium Human Methylation450 BeadChip

Assess the variation of change in DNA methylation in twins from birth to 18 months.

1) In a pilot, genome-wide study of DNA from buccal epithelium, 1/3 of the CpGs assayed showed methylation differences between birth and 18 months. All classes of annotated genomic regions assessed showed an increase in DNA methylation over time, but probes located in intragenic regions, enhancers and low-density CpG promoters were significantly over-represented. There was less variation in CpG islands and high-CpG density promoters.2) Within-pair epigenetic drifts were found in a subset of pairs, while the others showed either minimal change in methylation discordance, or more similar, converging methylation profiles at 18 months.3) Age-related sites were enriched in genes involved in development.

Novakovic et al 2011. BMC Genomics.

18 samples from 1st; 10 from 2nd and 14 from 3rd trimester.

During pregnancy

Gestational tissue (8-12 weeks); placental tissue from elective abortions (8-12; 17-24 weeks)

Illumina Infinium HumanMethylation27 BeadChip platform / validation with Sequenom EpiTPER platform

1) Identify promoter regions where methylation changes throughout gestation.2) Identify those that become increasingly variable between individual placentas over time.

1) Large-scale differences in DNA methylation were found from the 1st to 3rd trimester. This was particularly true in immune regulators.2) Increased inter-individual variation in the 3rd trimester relative to 1st and 2nd was observed.

Salpea et al 2012. Nucleic Acids Research

A) 5 male and 4 female newborns; 3 male and 6 female adultsB) 3 male and 7 female newborns; 6 male and 4 female adults

birth and adulthood (age 21-37)

A) cord blood monocytesB) peripheral blood leukocytes

methylated DNA immunoprecipitation (MeDIP)

Identify genomic regions with distinct structure and sequence characteristics that render them susceptible to dynamic post-natal developmental remodeling or age-related dysregulation of epigenomic structure.

1) No differences were found in interspersed repetitive sequences between newborns and adults.2) Regions of interest included tandem or interspersed-tandem gene sequence repeats (PCDHG, FAM90A, HRHR, ECEL1P2), and genes with strong homology to other family members elsewhere in the genome (FZD1, FZD7 and FGF17).3) Bisulfite analysis confirmed both the ECEL1P2 and FZD1 region MeDIP-Seq results.

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Talens et al. 2010. FASEB journal.

A) 30 unrelated individualsB) 34 individuals (17 males; to assess the correlation of DNA methylation across time and tissue and to validate the findings on the 30 individuals)C) 60 controls (28 males; for validation)

A) 21-73 yearsB) 14-62 yearsC) mean of 57 years

Whole blood and buccal cells

Mass spectrometry (Epityper)

1) Identify epigenetic risk factors for complex diseases through biobanks.2) Assess whether genomic DNA from existing biobanks is suitable for the identification of these risk factors in epidemiological studies.

1) CpG methylation was particularly correlated within loci. Loci correlating irrespectively of chromosomal location included paternally imprinted loci (MEG3 and GNASAS) and maternally imprinted loci (GRB10, KCNQ1OT1, and GNAS A/B)2) Significant correlations were observed across loci for GNASAS, GNAS A/B, GRB10, and MEG3; correlation between these loci and IGF2 but not KCNQ1OT1.3) The average level of DNA methylation was generally different between the two tissues. Additionally, the extent of the difference depended on the locus; IL10 showed the highest variation and KCNQ1OT1 showed the lowest.

Talens et al 2012. Aging Cell

230 MZ twin pairs adults (18-89 y.o.)

whole blood Mass spectrometry 1) Assess whether epigenetic changes accumulate linearly, exponentially or in bursts during the full adult lifespan.2) Evaluate the influence of familial versus individual factors on age-related increases in discordance.

1) Older individuals had a slightly lower mean global DNA methylation than young individuals, particularly at some specific loci, while in decreased in others.2) Small within-pair discordances in global methylation was found in the entire sample, but this was greater in older pairs.3) Within-pair discordance of global DNA methylation was 9% greater with each decade, and was mostly attributable to the unique environment.

Wang et al 2012. Epigenetics.

105 black children (59 male and 46 females)

DNA methylation levels collected from birth through the first 2 years of life

cord blood samples (birth) and venous blood samples

Illumina Infinium Humanmethylation27 BeadChip

1) Determine genome-wide DNA methylation profiles at birth and in the first two years of life, and examine whether it varies by gender and across individuals.2) Determine if cross-sectional and longitudinal patterns of DNA methylation vary across CpG and gene structures throughout the genome.

1) There was significant inter-individual variation in genome-wide methylation patterns at each time point.2) Lower levels of methylation were found in CpG islands and higher levels in CpG shores and shelves as well as gene bodies.3) 159 CpG sites were identified in males, and 149 sites in females, where methylation varied with age. These sites were enriched for genes involved in immunity and inflammation.

Watson et al 2012. PlosOne.

108 subjects fetal tissue, children (0-10 y.o.) and adults (>10).

human brain samples (DLPFC)

Illumina Infinium HumanMethylation27 BeadChip

Investigate whether recently characterized age-associated DNA hyper- and hypo-methylated loci in the human brain had a similar relationship with bivalently marked chromatin domains in human embrionic stem cells.

1) There were a total of 103 age-related sites in fetal tissue, 441 in children and 2307 in adults, after removing shared loci between age groups.2) Age-related DMRs in the human brain were also enriched in bivalent domains.4) Bivalently marked genes overlapped by age-associated hypermethylation in the adult brain and were enriched for biological functions associated with developmental processes including neuronal differentiation.

Xu et al 2014. Carcinogenesis.

1006 women 35-76 y.o. blood Illumina HumanMehylation27

Identify age-related methylation sites and examine their relationship to cancer

1) 28% of the 27578 CpGs assayed were associated with age, and using independent data sets, 749

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and other underlying epigenetic marks. high-confidence age-related CpG sites were confirmed.2) Age-related CpGs in island regions were 82% hyper-methylated with age while those in non-island CpGs were 95% hypo-methylated with age.3) These age-related changes were largely concordant in a broad variety of normal tissues.4) Genes containing these sites were highly enriched for developmental and signalling pathways.

Studies assessing age-related genome-wide DNA methylation from 2000 to the present were included.

ASD: autism spectrum disorder; BDNF: brain derived neurotrophic factor; BMI: body mass index; DZ: dizygotic; DLPFC: dorsolateral prefrontal cortex; DMR: differentially methylated region; EWAS: epigenome-wide association scans; LDL: low density cholesterol; MeDIP: DNA immunoprecipitation method; Mg: Magnesium; MZ: monozygotic; NGFR: nerve growth factor receptor; PCR: polymerase chain reaction

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Table S3. Genes hypervariable across individuals but stable over 3-6 months.

Symbol Entrez Gene Name Location Type(s)

AATK apoptosis-associated tyrosine kinase Cytoplasm kinase

ABCA6 ATP-binding cassette, sub-family A (ABC1), member 6 Plasma Membrane transporter

ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 Plasma Membrane transporter

ACOXL acyl-CoA oxidase-like Other enzyme

ACSF3 acyl-CoA synthetase family member 3 Cytoplasm enzyme

ADAMTSL1 ADAMTS-like 1 Extracellular Space other

ADAP1 ArfGAP with dual PH domains 1 Nucleus other

AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 Cytoplasm enzyme

AGBL4 ATP/GTP binding protein-like 4 Cytoplasm peptidase

AIFM3 apoptosis-inducing factor, mitochondrion-associated, 3 Cytoplasm enzyme

AKR1C1/AKR1C2 aldo-keto reductase family 1, member C2 Cytoplasm enzyme

ALOX12 arachidonate 12-lipoxygenase Cytoplasm enzyme

ALPPL2 alkaline phosphatase, placental-like 2 Plasma Membrane phosphatase

AMN amnion associated transmembrane protein Plasma Membrane other

AMPD2 adenosine monophosphate deaminase 2 Cytoplasm enzyme

ANO1 anoctamin 1, calcium activated chloride channel Plasma Membrane ion channel

APOBEC3G apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G Nucleus enzyme

ARHGAP26 Rho GTPase activating protein 26 Cytoplasm other

ARL6IP6 ADP-ribosylation-like factor 6 interacting protein 6 Other other

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ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 Plasma Membrane other

ASTN2 astrotactin 2 Cytoplasm other

ATF1 activating transcription factor 1 Nucleus transcription regulator

ATP4B ATPase, H+/K+ exchanging, beta polypeptide Plasma Membrane transporter

ATP9B ATPase, class II, type 9B Cytoplasm transporter

B3GNT6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase) Cytoplasm enzyme

B3GNTL1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 Other enzyme

BAI2 brain-specific angiogenesis inhibitor 2 Plasma Membrane G-protein coupled receptor

BICD2 bicaudal D homolog 2 (Drosophila) Cytoplasm other

BRSK2 BR serine/threonine kinase 2 Cytoplasm kinase

BTBD11 BTB (POZ) domain containing 11 Other transcription regulator

BTNL3 butyrophilin-like 3 Other other

C1orf52 chromosome 1 open reading frame 52 Other other

C20orf195 chromosome 20 open reading frame 195 Other other

C2orf27A/C2orf27B chromosome 2 open reading frame 27A Other other

C5orf30 chromosome 5 open reading frame 30 Cytoplasm other

CCAR2 cell cycle and apoptosis regulator 2 Cytoplasm peptidase

CCDC33 coiled-coil domain containing 33 Cytoplasm other

CCDC57 coiled-coil domain containing 57 Other other

CHMP3 charged multivesicular body protein 3 Cytoplasm other

CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) Plasma Membrane transmembrane receptor

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CHTF18 CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) Other other

CLDN14 claudin 14 Plasma Membrane other

CLDN4 claudin 4 Plasma Membrane transmembrane receptor

CLDN4 claudin 4 Plasma Membrane transmembrane receptor

COL17A1 collagen, type XVII, alpha 1 Extracellular Space other

COL6A1 collagen, type VI, alpha 1 Extracellular Space other

CSK c-src tyrosine kinase Cytoplasm kinase

CUL4A cullin 4A Nucleus other

CUX1 cut-like homeobox 1 Nucleus transcription regulator

DALRD3 DALR anticodon binding domain containing 3 Other other

DDHD1 DDHD domain containing 1 Extracellular Space enzyme

DEAF1 DEAF1 transcription factor Nucleus transcription regulator

DENND3 DENN/MADD domain containing 3 Other other

DEPTOR DEP domain containing MTOR-interacting protein Other other

DIP2C DIP2 disco-interacting protein 2 homolog C (Drosophila) Other other

DMBT1 deleted in malignant brain tumors 1 Plasma Membrane transmembrane receptor

DMRT3 doublesex and mab-3 related transcription factor 3 Nucleus transcription regulator

DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6 Cytoplasm other

DNAJC7 DnaJ (Hsp40) homolog, subfamily C, member 7 Cytoplasm other

DNALI1 dynein, axonemal, light intermediate chain 1 Cytoplasm other

DUSP22 dual specificity phosphatase 22 Cytoplasm phosphatase

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EBF3 early B-cell factor 3 Nucleus other

EXOC7 exocyst complex component 7 Cytoplasm transporter

FAM222B family with sequence similarity 222, member B Other other

FBL Fibrillarin Nucleus other

FBLN2 fibulin 2 Extracellular Space other

FCGR2C Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) Plasma Membrane transmembrane receptor

FGFR1 fibroblast growth factor receptor 1 Plasma Membrane kinase

FHOD1 formin homology 2 domain containing 1 Cytoplasm other

FLJ31306 uncharacterized LOC379025 Other other

FLJ34503 uncharacterized FLJ34503 Other other

FMO2 flavin containing monooxygenase 2 (non-functional) Cytoplasm enzyme

FNDC3B fibronectin type III domain containing 3B Cytoplasm other

GABRP gamma-aminobutyric acid (GABA) A receptor, pi Plasma Membrane ion channel

GALNT10 polypeptide N-acetylgalactosaminyltransferase 10 Cytoplasm enzyme

GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 Cytoplasm enzyme

GALNTL5 polypeptide N-acetylgalactosaminyltransferase-like 5 Cytoplasm enzyme

GATS GATS, stromal antigen 3 opposite strand Other other

GGA1 golgi-associated, gamma adaptin ear containing, ARF binding protein 1 Cytoplasm transporter

GNA12 guanine nucleotide binding protein (G protein) alpha 12 Plasma Membrane enzyme

GNAS GNAS complex locus Plasma Membrane enzyme

GPR111 G protein-coupled receptor 111 Plasma Membrane G-protein coupled receptor

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GPR133 G protein-coupled receptor 133 Plasma Membrane G-protein coupled receptor

GPR37 G protein-coupled receptor 37 (endothelin receptor type B-like) Plasma Membrane G-protein coupled receptor

GPR85 G protein-coupled receptor 85 Plasma Membrane G-protein coupled receptor

GRIK3 glutamate receptor, ionotropic, kainate 3 Plasma Membrane ion channel

GSTM1 glutathione S-transferase mu 1 Cytoplasm enzyme

GSTT1 glutathione S-transferase theta 1 Cytoplasm enzyme

HBP1 HMG-box transcription factor 1 Nucleus transcription regulator

HCG4B HLA complex group 4B (non-protein coding) Other other

HCN2 hyperpolarization activated cyclic nucleotide-gated potassium channel 2 Plasma Membrane ion channel

HCRTR1 hypocretin (orexin) receptor 1 Plasma Membrane G-protein coupled receptor

HLA-C major histocompatibility complex, class I, C Plasma Membrane other

HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 Plasma Membrane transmembrane receptor

HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 Plasma Membrane transmembrane receptor

HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 Plasma Membrane transmembrane receptor

HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 Plasma Membrane transmembrane receptor

HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 Plasma Membrane transmembrane receptor

HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 Plasma Membrane transmembrane receptor

HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 Plasma Membrane transmembrane receptor

HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 Plasma Membrane other

HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 Plasma Membrane other

HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 Plasma Membrane other

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HLA-DRB1 major histocompatibility complex, class II, DR beta 1 Cytoplasm other

HLA-DRB1 major histocompatibility complex, class II, DR beta 1 Cytoplasm other

HLA-DRB1 major histocompatibility complex, class II, DR beta 1 Cytoplasm other

HLA-DRB1 major histocompatibility complex, class II, DR beta 1 Cytoplasm other

HLA-DRB1 major histocompatibility complex, class II, DR beta 1 Cytoplasm other

HLA-DRB1 major histocompatibility complex, class II, DR beta 1 Cytoplasm other

HLA-DRB1 major histocompatibility complex, class II, DR beta 1 Cytoplasm other

HLA-DRB1 major histocompatibility complex, class II, DR beta 1 Cytoplasm other

HLA-DRB1 major histocompatibility complex, class II, DR beta 1 Cytoplasm other

HLA-DRB5 major histocompatibility complex, class II, DR beta 5 Plasma Membrane transmembrane receptor

HLA-DRB5 major histocompatibility complex, class II, DR beta 5 Plasma Membrane transmembrane receptor

HLA-DRB5 major histocompatibility complex, class II, DR beta 5 Plasma Membrane transmembrane receptor

HLA-DRB5 major histocompatibility complex, class II, DR beta 5 Plasma Membrane transmembrane receptor

HLA-DRB5 major histocompatibility complex, class II, DR beta 5 Plasma Membrane transmembrane receptor

HLA-DRB6 major histocompatibility complex, class II, DR beta 6 (pseudogene) Other other

HLA-DRB6 major histocompatibility complex, class II, DR beta 6 (pseudogene) Other other

HLA-DRB6 major histocompatibility complex, class II, DR beta 6 (pseudogene) Other other

HLA-DRB6 major histocompatibility complex, class II, DR beta 6 (pseudogene) Other other

HLA-DRB6 major histocompatibility complex, class II, DR beta 6 (pseudogene) Other other

HMOX2 heme oxygenase (decycling) 2 Cytoplasm enzyme

HTATIP2 HIV-1 Tat interactive protein 2, 30kDa Nucleus transcription regulator

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HTR1D 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled Plasma Membrane G-protein coupled receptor

IGF2BP3 insulin-like growth factor 2 mRNA binding protein 3 Cytoplasm translation regulator

IGSF9B immunoglobulin superfamily, member 9B Plasma Membrane other

IL4I1 interleukin 4 induced 1 Cytoplasm enzyme

INS-IGF2 INS-IGF2 readthrough Other other

IQGAP2 IQ motif containing GTPase activating protein 2 Cytoplasm other

ISM1 isthmin 1, angiogenesis inhibitor Other other

ITGA8 integrin, alpha 8 Plasma Membrane other

ITPR3 inositol 1,4,5-trisphosphate receptor, type 3 Cytoplasm ion channel

JPH3 junctophilin 3 Plasma Membrane ion channel

KATNAL2 katanin p60 subunit A-like 2 Other other

KDM5B lysine (K)-specific demethylase 5B Nucleus transcription regulator

KIAA0319 KIAA0319 Plasma Membrane other

KIAA1324 KIAA1324 Plasma Membrane other

KIAA1804 mixed lineage kinase 4 Other kinase

KLHL35 kelch-like family member 35 Other other

KLHL35 kelch-like family member 35 Other other

LAIR2 leukocyte-associated immunoglobulin-like receptor 2 Plasma Membrane other

LHX4 LIM homeobox 4 Nucleus transcription regulator

LINC00523 long intergenic non-protein coding RNA 523 Other other

LOC100130691 uncharacterized LOC100130691 Other other

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LOC100133315 transient receptor potential cation channel, subfamily C, member 2-like Other other

LOC100287704/ LOC100287834 uncharacterized LOC100287704 Other other

LPCAT1 lysophosphatidylcholine acyltransferase 1 Cytoplasm enzyme

LPHN1 latrophilin 1 Plasma Membrane G-protein coupled receptor

LRRC8D leucine rich repeat containing 8 family, member D Plasma Membrane G-protein coupled receptor

LUZP1 leucine zipper protein 1 Nucleus other

LYPD6B LY6/PLAUR domain containing 6B Other other

MAD1L1 MAD1 mitotic arrest deficient-like 1 (yeast) Nucleus other

MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 Plasma Membrane kinase

MARCH5 membrane-associated ring finger (C3HC4) 5 Cytoplasm enzyme

MCF2L MCF.2 cell line derived transforming sequence-like Cytoplasm other

MCOLN1 mucolipin 1 Cytoplasm ion channel

MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase Cytoplasm enzyme

MOV10 Mov10, Moloney leukemia virus 10, homolog (mouse) Nucleus enzyme

MRPL3 mitochondrial ribosomal protein L3 Cytoplasm other

MT1L metallothionein 1L (gene/pseudogene) Cytoplasm other

MTA1 metastasis associated 1 Nucleus transcription regulator

MYADML2 myeloid-associated differentiation marker-like 2 Cytoplasm other

MYOM2 myomesin 2 Cytoplasm other

MYT1L myelin transcription factor 1-like Nucleus transcription regulator

NCF2 neutrophil cytosolic factor 2 Cytoplasm enzyme

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NCLN nicalin Cytoplasm peptidase

NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) Cytoplasm enzyme

NFIC nuclear factor I/C (CCAAT-binding transcription factor) Nucleus transcription regulator

NMUR1 neuromedin U receptor 1 Plasma Membrane G-protein coupled receptor

NMUR1 neuromedin U receptor 1 Plasma Membrane G-protein coupled receptor

NSUN5P2 NOP2/Sun domain family, member 5 pseudogene 2 Other other

NTN1 netrin 1 Extracellular Space other

NXN nucleoredoxin Nucleus enzyme

OPLAH 5-oxoprolinase (ATP-hydrolysing) Cytoplasm enzyme

OR10X1 olfactory receptor, family 10, subfamily X, member 1 Plasma Membrane G-protein coupled receptor

PAMR1 peptidase domain containing associated with muscle regeneration 1 Extracellular Space peptidase

PBX1 pre-B-cell leukemia homeobox 1 Nucleus transcription regulator

PCDHA6 protocadherin alpha 6 Plasma Membrane other

PCDHGA2 protocadherin gamma subfamily A, 2 Other other

PCDHGA2 protocadherin gamma subfamily A, 2 Other other

PCGF3 polycomb group ring finger 3 Nucleus other

PCGF3 polycomb group ring finger 3 Nucleus other

PDIA6 protein disulfide isomerase family A, member 6 Cytoplasm enzyme

PLEKHA7 pleckstrin homology domain containing, family A member 7 Cytoplasm other

POLR2J polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa Nucleus enzyme

POTEM (includes others) POTE ankyrin domain family, member M Other other

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POU5F1B POU class 5 homeobox 1B Nucleus transcription regulator

PRKCA protein kinase C, alpha Cytoplasm kinase

PROCR protein C receptor, endothelial Plasma Membrane other

PRX periaxin Nucleus other

PSMA7 proteasome (prosome, macropain) subunit, alpha type, 7 Cytoplasm peptidase

PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2 Plasma Membrane phosphatase

PTPRN2 protein tyrosine phosphatase, receptor type, N polypeptide 2 Plasma Membrane phosphatase

PYDC2 pyrin domain containing 2 Cytoplasm other

R3HCC1 R3H domain and coiled-coil containing 1 Other other

RARB retinoic acid receptor, beta Nucleusligand-dependent nuclear receptor

RBMS1 RNA binding motif, single stranded interacting protein 1 Nucleus other

RCAN1 regulator of calcineurin 1 Nucleus transcription regulator

RFX4 regulatory factor X, 4 (influences HLA class II expression) Nucleus transcription regulator

RIMBP2 RIMS binding protein 2 Plasma Membrane other

RPH3AL rabphilin 3A-like (without C2 domains) Plasma Membrane other

RPL28 ribosomal protein L28 Cytoplasm other

RPS6KA2 ribosomal protein S6 kinase, 90kDa, polypeptide 2 Nucleus kinase

SALL4 spalt-like transcription factor 4 Nucleus transcription regulator

SCD stearoyl-CoA desaturase (delta-9-desaturase) Cytoplasm enzyme

SHANK2 SH3 and multiple ankyrin repeat domains 2 Plasma Membrane other

SHPK sedoheptulokinase Cytoplasm kinase

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SLC4A11 solute carrier family 4, sodium borate transporter, member 11 Plasma Membrane transporter

SLC50A1 solute carrier family 50 (sugar efflux transporter), member 1 Plasma Membrane transporter

SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3 Plasma Membrane transporter

SLC9A3R2 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2 Plasma Membrane transporter

SNORA19 small nucleolar RNA, H/ACA box 19 Other other

SNORD97 small nucleolar RNA, C/D box 97 Other other

SPATA24 spermatogenesis associated 24 Other other

SPIB Spi-B transcription factor (Spi-1/PU.1 related) Nucleus transcription regulator

SRC v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog Cytoplasm kinase

ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 Cytoplasm enzyme

TBC1D16 TBC1 domain family, member 16 Extracellular Space other

TBL1XR1 transducin (beta)-like 1 X-linked receptor 1 Nucleus transcription regulator

TCF3 transcription factor 3 Nucleus transcription regulator

TFRC transferrin receptor Plasma Membrane transporter

TGFA transforming growth factor, alpha Extracellular Space growth factor

TMCO5A transmembrane and coiled-coil domains 5A Other other

TNFAIP8L3 tumor necrosis factor, alpha-induced protein 8-like 3 Other other

TRIM35 tripartite motif containing 35 Cytoplasm other

TRIM9 tripartite motif containing 9 Cytoplasm enzyme

TUT1 terminal uridylyl transferase 1, U6 snRNA-specific Nucleus enzyme

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UPK3B uroplakin 3B Plasma Membrane other

UPK3B uroplakin 3B Plasma Membrane other

VASP vasodilator-stimulated phosphoprotein Plasma Membrane other

VEPH1 ventricular zone expressed PH domain-containing 1 Nucleus other

VIPR2 vasoactive intestinal peptide receptor 2 Plasma Membrane G-protein coupled receptor

VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae) Extracellular Space other

WDR37 WD repeat domain 37 Other other

WNT5A wingless-type MMTV integration site family, member 5A Extracellular Space cytokine

WSCD2 WSC domain containing 2 Other other

XCL1 chemokine (C motif) ligand 1 Extracellular Space cytokine

YAF2 YY1 associated factor 2 Nucleus transcription regulator

YBEY ybeY metallopeptidase (putative) Cytoplasm other

YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma Cytoplasm other

ZAN Zonadhesin Plasma Membrane other

ZAN Zonadhesin Plasma Membrane other

ZDHHC14 zinc finger, DHHC-type containing 14 Cytoplasm enzyme

ZFYVE28 zinc finger, FYVE domain containing 28 Cytoplasm other

ZMAT2 zinc finger, matrin-type 2 Nucleus other

ZNF137P zinc finger protein 137, pseudogene Nucleus transcription regulator

ZNF506 zinc finger protein 506 Nucleus other

ZNF707 zinc finger protein 707 Other other

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List of 250 mapped genes, locations and types that were found to be hypervariable across individuals but stable over 3-6 months.

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Table S4. Top diseases and functions of trait-like genes.

Categories Diseases or Functions Annotation p-Value Molecules # Molecules

Cancer Cancer 2,81E-06

AATK, ABCA6, ABCC1, ACOXL, ADAMTSL1, ADAP1, AGAP1, AGBL4, AKR1C1/AKR1C2, ALOX12, ALPPL2, AMN, AMPD2, ANO1, APOBEC3G, ARHGAP26, ASAP1, ASTN2, ATF1, ATP4B, ATP9B, B3GNT6, B3GNTL1, BAI2, BICD2, BRSK2, BTBD11, BTNL3, C2orf27A/C2orf27B, CCAR2, CCDC33, CCDC57, CHMP3, CHRNB2, CLDN14, CLDN4, COL17A1, COL6A1, CSK, CUL4A, CUX1, DDHD1, DENND3, DEPTOR, DIP2C, DMBT1, DMRT3, DNAJC6, DNAJC7, DNALI1, DUSP22, EBF3, EXOC7, FAM222B, FBLN2, FCGR2C, FGFR1, FMO2, FNDC3B, GABRP, GALNT10, GALNTL5, GGA1, GNA12, GNAS, GPR111, GPR133, GPR37, GPR85, GRIK3, GSTM1, GSTT1, HBP1, HLA-C, HLA-DQA1, HLA-DRB1, HTATIP2, HTR1D, IGF2BP3, IGSF9B, IQGAP2, ITGA8, ITPR3, JPH3, KATNAL2, KDM5B, KIAA0319, KIAA1324, KIAA1804, LHX4, LPCAT1, LPHN1, LRRC8D, LUZP1, MAD1L1, MAGI2, MARCH5, MCOLN1, MGRN1, MOV10, MTA1, MYADML2, MYOM2, MYT1L, NFIC, NSUN5P2, NTN1, NXN, OPLAH, OR10X1, PBX1, PCDHA6, PCDHGA2, PDIA6, PLEKHA7, POTEM (includes others), PRKCA, PROCR, PRX, PSMA7, PTPRN2, PYDC2, RARB, RCAN1, RFX4, RIMBP2, RPH3AL, RPL28, RPS6KA2, SALL4, SCD, SHANK2, SLC4A11, SLC50A1, SLC6A3, SPIB, SRC, ST8SIA2, TBC1D16, TBL1XR1, TCF3, TFRC, TGFA, TMCO5A, TNFAIP8L3, TRIM9, TUT1, UPK3B, VASP, VEPH1, VIPR2, WNT5A, WSCD2, XCL1, YBEY, YWHAG, ZAN, ZDHHC14, ZFYVE28, ZMAT2, ZNF506, ZNF707 162

Organismal Survival organismal death 2,41E-05

ABCC1, ALOX12, ALPPL2, ANO1, ATF1, BRSK2, CHRNB2, CHTF18, CLDN4, CSK, CUL4A, CUX1, DEAF1, DMBT1, DMRT3, DNAJC6, FBL, FGFR1, FNDC3B, GNA12, GNAS, GSTM1, HCN2, HMOX2, IQGAP2, ITGA8, ITPR3, JPH3, LHX4, MAD1L1, MAGI2, MCOLN1, NFIC, NTN1, PBX1, PCDHGA2, PRKCA, PROCR, PTPRN2, RARB, RBMS1, RCAN1, RFX4, SALL4, SHANK2, SLC6A3, SPIB, SRC, ST8SIA2, TCF3, TFRC, TGFA, VASP, WNT5A 54

Organismal Development abnormal morphology of eyelid aperture 4,91E-05 CHRNB2, RARB, SCD, TGFA 4

Cellular Movement invasion of thyroid tumor cell lines 7,71E-05 ATF1, FGFR1, WNT5A 3

Neurological Disease, Psychological Disorders hypersomnia 9,78E-05 HLA-DQB1, HLA-DRB1 2

Nucleic Acid Metabolism regulation of GTPase 9,78E-05 ARHGAP26, ASAP1 2

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Neurological Disease, Psychological Disorders dyssomnia 1,16E-04 ATP4B, CHRNB2, GABRP, HLA-DQB1, HLA-DRB1, SLC6A3 6

Cellular Movement invasion of tumor cell lines 1,23E-04ALPPL2, ASAP1, ATF1, CLDN4, CSK, FBLN2, FGFR1, FHOD1, GALNT2, GNA12, GNAS, HBP1, HTATIP2, MTA1, NTN1, PRKCA, SRC, TGFA, WNT5A 19

Cell Death and Survival, Hair and Skin Development and Function cell viability of keratinocytes 1,49E-04 COL17A1, PRKCA, SRC 3

Cancer development of carcinoma 1,54E-04 CUX1, FGFR1, HTATIP2, IQGAP2, SRC, TGFA 6

Embryonic Development, Organismal Development, Skeletal and Muscular System Development and Function morphogenesis of embryonic limb 1,88E-04 FGFR1, GNAS, PBX1, RARB, SALL4, WNT5A 6

Cancer, Cellular Movement, Tumor Morphology invasion of gastric cancer cells 1,97E-04 CLDN4, VASP, WNT5A 3

Embryonic Development, Organismal Development, Skeletal and Muscular System Development and Function morphogenesis of limb 2,05E-04 FGFR1, GNA12, GNAS, PBX1, RARB, SALL4, WNT5A 7

Cancer development of malignant tumor 2,26E-04 ABCC1, CUX1, FGFR1, HTATIP2, IQGAP2, SRC, TCF3, TGFA 8

Cellular Development, Hematological System Development and Function, Hematopoiesis differentiation of CD34+ cells 2,55E-04 PRKCA, SPIB, TCF3 3

Cellular Movement distribution of central nervous system cells 2,91E-04 NTN1, TGFA 2

Cancer, Cellular Development immortalization of pro-T lymphocytes 2,91E-04 PBX1, TCF3 2

Auditory and Vestibular System Development and Function, Organ Morphology abnormal morphology of ear 3,00E-04 CHRNB2, FGFR1, GNAS, ITGA8, PBX1, RARB, SALL4, WNT5A 8

Cancer melanoma 3,15E-04 ABCA6, ABCC1, ACOXL, ADAMTSL1, ADAP1, AGAP1, AGBL4, ALPPL2, APOBEC3G, ARHGAP26, ASAP1, ASTN2, B3GNT6, B3GNTL1, BAI2, BRSK2, BTBD11, BTNL3, CCAR2, CCDC33, CCDC57, CHRNB2, CLDN14, COL17A1, COL6A1, CSK, CUL4A, CUX1, DDHD1, DENND3, DIP2C, DMBT1, DMRT3, DNAJC6, DNAJC7, DUSP22, EBF3, FBLN2, FGFR1, FMO2, FNDC3B, GABRP, GALNT10, GALNTL5, GGA1, GNAS, GPR111, GPR133, GRIK3, GSTM1, HBP1,

107

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HLA-C, HLA-DRB1, HTR1D, IGF2BP3, IGSF9B, IQGAP2, ITGA8, ITPR3, KATNAL2, KDM5B, KIAA0319, KIAA1324, KIAA1804, LPCAT1, LPHN1, LUZP1, MAGI2, MGRN1, MOV10, MYOM2, MYT1L, NFIC, NXN, OPLAH, OR10X1, PBX1, PCDHA6, PCDHGA2, PLEKHA7, POTEM (includes others), PRKCA, PRX, PTPRN2, PYDC2, RCAN1, RFX4, RIMBP2, RPH3AL, RPS6KA2, SALL4, SHANK2, SLC4A11, SLC6A3, SRC, ST8SIA2, TBC1D16, TBL1XR1, TGFA, TNFAIP8L3, TRIM9, UPK3B, WNT5A, WSCD2, ZAN, ZFYVE28, ZNF707

Connective Tissue Development and Function, Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development abnormal morphology of craniofacial skeleton 3,85E-04 FGFR1, PBX1, SALL4, SRC 4

Cell Morphology morphology of cells 5,08E-04

AATK, ALOX12, AMPD2, ASAP1, ATP4B, BRSK2, CHTF18, CLDN14, COL17A1, CSK, CUL4A, DEPTOR, FGFR1, GGA1, GNA12, GNAS, HBP1, HLA-DQA1, HLA-DQB1, IQGAP2, ITGA8, ITPR3, KIAA1324, LHX4, MAGI2, MCOLN1, NDUFS6, PBX1, PRKCA, PRX, RARB, RCAN1, RPS6KA2, SALL4, SPIB, SRC, ST8SIA2, TCF3, TFRC, TGFA, VASP, WNT5A, YWHAG 43

Auditory and Vestibular System Development and Function, Organ Morphology abnormal morphology of middle ear 5,31E-04 FGFR1, PBX1, RARB, SALL4 4

Connective Tissue Disorders, Developmental Disorder, Skeletal and Muscular Disorders fibrous dysplasia 5,79E-04 FGFR1, GNAS 2

Cellular Function and Maintenance internalization of Staphylococcus aureus 5,79E-04 CSK, SRC 2

Cell Morphology polarity of breast cell lines 5,79E-04 FGFR1, SRC 2

Cancer, Gastrointestinal Disease digestive tract cancer 5,85E-04 AATK, ABCA6, ADAMTSL1, AGAP1, AKR1C1/AKR1C2, AMN, AMPD2, ASAP1, ATF1, ATP4B, B3GNT6, BAI2, BRSK2, BTBD11, BTNL3, CLDN4, COL6A1, CUL4A, CUX1, DDHD1, DENND3, DMBT1, DNAJC6, DNAJC7, FBLN2, FGFR1, FNDC3B, GABRP, GALNTL5, GGA1, GNA12, GNAS, GPR37, GSTM1, GSTT1, HLA-C, HLA-DQA1, HTATIP2, IGSF9B, IQGAP2, ITGA8, ITPR3, JPH3, KDM5B, KIAA1804, LHX4, LRRC8D, MAD1L1, MAGI2, MARCH5, MOV10, MTA1, MYADML2, PCDHGA2, PLEKHA7, PRKCA, PRX, PSMA7, PTPRN2, RPH3AL, SALL4, SCD, SLC50A1, SLC6A3, SRC, TBL1XR1, TFRC, TGFA, TMCO5A, TRIM9,

82

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TUT1, VEPH1, VIPR2, WNT5A, WSCD2, XCL1, YWHAG, ZAN, ZDHHC14, ZFYVE28, ZNF506, ZNF707

Cancer, Organismal Injury and Abnormalities, Reproductive System Disease invasive breast cancer 5,89E-04 FGFR1, HBP1, SRC 3

Embryonic Development, Organismal Development, Skeletal and Muscular System Development and Function limb development 6,30E-04 ALOX12, FGFR1, GNA12, GNAS, PBX1, RARB, SALL4, WNT5A 8

Cancer development of tumor 6,99E-04ABCC1, ALOX12, CUX1, FBLN2, FGFR1, HTATIP2, IQGAP2, MTA1, PRKCA, SRC, TCF3, TGFA 12

Embryonic Development, Nervous System Development and Function, Organ Development, Organismal Development, Tissue Development development of mesencephalon 7,11E-04 FGFR1, NTN1, RFX4, WNT5A 4

Auditory and Vestibular System Development and Function, Organ Morphology abnormal morphology of external ear 8,26E-04 FGFR1, GNAS, PBX1 3

Cancer, Gastrointestinal Disease digestive organ tumor 9,27E-04

AATK, ABCA6, ADAMTSL1, AGAP1, AKR1C1/AKR1C2, AMN, AMPD2, ASAP1, ATF1, ATP4B, B3GNT6, BAI2, BRSK2, BTBD11, BTNL3, CLDN4, COL6A1, CUL4A, CUX1, DDHD1, DENND3, DMBT1, DNAJC6, DNAJC7, FBLN2, FGFR1, FNDC3B, GABRP, GALNTL5, GGA1, GNA12, GNAS, GPR37, GSTM1, GSTT1, HLA-C, HLA-DQA1, HTATIP2, IGSF9B, IQGAP2, ITGA8, ITPR3, JPH3, KDM5B, KIAA1804, LHX4, LRRC8D, MAD1L1, MAGI2, MARCH5, MOV10, MTA1, MYADML2, PCDHGA2, PLEKHA7, PRKCA, PRX, PSMA7, PTPRN2, RPH3AL, SALL4, SCD, SLC50A1, SLC6A3, SRC, TBL1XR1, TFRC, TGFA, TMCO5A, TRIM9, TUT1, VEPH1, VIPR2, WNT5A, WSCD2, XCL1, YWHAG, ZAN, ZDHHC14, ZFYVE28, ZNF506, ZNF707 82

Connective Tissue Development and Function, Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development abnormal morphology of gonial bone 9,58E-04 FGFR1, RARB 2

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Tissue Morphology abnormal morphology of neural fold 9,58E-04 CSK, FGFR1 2

Gastrointestinal Disease, Organismal Injury and Abnormalities atresia of anal canal 9,58E-04 SALL4, WNT5A 2

Cellular Movement, Reproductive System Development and Function migration of mammary epithelial cells 9,58E-04 FGFR1, SRC 2

Cancer neoplasia of epithelial cells 9,65E-04 FGFR1, TCF3, TGFA 3

Cellular Movement migration of breast cancer cell lines 1,00E-03 CUL4A, FHOD1, MCF2L, MTA1, PRKCA, SRC, TGFA, VASP, WNT5A 9

Psychological Disorders Mood Disorders 1,02E-03ALOX12, CHRNB2, DEAF1, DIP2C, FGFR1, FNDC3B, GABRP, GNAS, HTR1D, MRPL3, PRKCA, RCAN1, RFX4, SLC6A3 14

Cancer, Cellular Movement, Tumor Morphology invasion of tumor cells 1,06E-03 ASAP1, CLDN4, GNA12, MTA1, SRC, TGFA, VASP, WNT5A 8

Gastrointestinal Disease, Immunological Disease celiac disease 1,12E-03 HLA-DQA1, HLA-DQB1, TFRC 3

Cellular Movement migration of tumor cell lines 1,15E-03ALOX12, CLDN4, CSK, CUL4A, FBLN2, FGFR1, FHOD1, GALNT2, GNAS, HTATIP2, MCF2L, MTA1, PRKCA, SLC9A3R2, SRC, TGFA, VASP, WNT5A 18

Cellular Movement invasion of carcinoma cell lines 1,26E-03 ASAP1, ATF1, FBLN2, FGFR1, HTATIP2, WNT5A 6

Cancer precancerous condition 1,26E-03

ADAMTSL1, AGAP1, AKR1C1/AKR1C2, ALOX12, AMPD2, ASAP1, ATF1, ATP4B, B3GNT6, BAI2, BRSK2, BTBD11, BTNL3, CLDN4, COL6A1, CUL4A, CUX1, DDHD1, DMBT1, DNAJC6, DNAJC7, FGFR1, GABRP, GALNTL5, GGA1, GNA12, GNAS, GPR37, GSTM1, GSTT1, HLA-C, HLA-DQA1, IGSF9B, IQGAP2, ITGA8, ITPR3, JPH3, KDM5B, KIAA1804, LHX4, LRRC8D, MAGI2, MARCH5, MOV10, PCDHGA2, PLEKHA7, PRKCA, PRX, PSMA7, PTPRN2, RARB, RPH3AL, SALL4, SLC50A1, SLC6A3, SRC, TBL1XR1, TFRC, TRIM9, TUT1, VEPH1, VIPR2, WNT5A, WSCD2, XCL1, ZAN, ZNF506, ZNF707 68

Cellular Movement invasion of cells 1,37E-03ALPPL2, ASAP1, ATF1, CLDN4, CSK, FBLN2, FGFR1, FHOD1, GALNT2, GNA12, GNAS, HBP1, HTATIP2, MTA1, NTN1, PRKCA, SRC, TCF3, TGFA, VASP, WNT5A 21

Cell Cycle arrest in interphase of breast cell lines 1,43E-03 KDM5B, PRKCA 2

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Cell-To-Cell Signaling and Interaction, Cellular Assembly and Organization association of plasma membrane 1,43E-03 SCD, SRC 2

Cellular Development, Hematological System Development and Function, Hematopoiesis, Humoral Immune Response commitment of B lymphocytes 1,43E-03 PRKCA, TCF3 2

Developmental Disorder, Endocrine System Disorders, Neurological Disease, Organismal Injury and Abnormalities, Reproductive System Disease hypoplasia of adenohypophysis 1,43E-03 LHX4, SLC6A3 2

Cancer, Neurological Disease pilocytic astrocytoma 1,43E-03 DMBT1, FGFR1 2

Lipid Metabolism, Small Molecule Biochemistry synthesis of lipoxin A4 1,43E-03 ALOX12, HMOX2 2

Cancer, Gastrointestinal Disease tumorigenesis of colorectal carcinoma 1,43E-03 B3GNT6, SRC 2

Infectious Disease viremia 1,43E-03 HLA-C, HLA-DQB1 2

Behavior cognition 1,49E-03CHRNB2, CSK, GNAS, ITGA8, ITPR3, JPH3, PRKCA, PTPRN2, RARB, RCAN1, SHANK2, SLC6A3, ST8SIA2 13

Skeletal and Muscular System Development and Function fusion of vertebrae 1,51E-03 DEAF1, FGFR1, RARB, WNT5A 4

Cancer, Gastrointestinal Disease gastrointestinal tract cancer 1,59E-03

AATK, ABCA6, ADAMTSL1, AGAP1, AKR1C1/AKR1C2, AMPD2, ASAP1, ATF1, ATP4B, B3GNT6, BAI2, BRSK2, BTBD11, BTNL3, CLDN4, COL6A1, CUL4A, CUX1, DDHD1, DENND3, DMBT1, DNAJC6, DNAJC7, FBLN2, FGFR1, FNDC3B, GABRP, GALNTL5, GGA1, GNA12, GNAS, GPR37, GSTM1, GSTT1, HLA-C, HLA-DQA1, IGSF9B, IQGAP2, ITGA8, ITPR3, JPH3, KDM5B, KIAA1804, LHX4, LRRC8D, MAGI2, MARCH5, MOV10, PCDHGA2, PLEKHA7, PRKCA, PRX, PSMA7, PTPRN2, RPH3AL, SALL4, SLC50A1, SLC6A3, SRC, TBL1XR1, TFRC, TRIM9, TUT1, VEPH1, VIPR2, WNT5A, WSCD2, XCL1, ZAN, ZDHHC14, ZNF506, ZNF707 72

Cellular Movement migration of epithelial cells 1,62E-03 COL17A1, FGFR1, MTA1, SRC, TCF3, TGFA 6

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Organ Morphology, Renal and Urological System Development and Function abnormal morphology of urinary bladder 1,66E-03 CHRNB2, MCOLN1, WNT5A 3

Cellular Movement migration of carcinoma cells 1,66E-03 GNA12, PRKCA, TGFA 3

Cell Signaling, Molecular Transport, Vitamin and Mineral Metabolism concentration of Ca2+ 1,75E-03 HLA-C, ITPR3, PRKCA, TGFA, VIPR2, WNT5A 6

Cellular Development, Nervous System Development and Function, Tissue Development differentiation of neurons 1,76E-03

BRSK2, EBF3, FGFR1, PBX1, PRKCA, RARB, SRC, ST8SIA2, TCF3, TGFA, WNT5A, YWHAG 12

Auditory and Vestibular System Development and Function, Connective Tissue Development and Function, Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development

abnormal morphology of styloid process of temporal bone 1,99E-03 FGFR1, PBX1 2

Embryonic Development, Organismal Development, Tissue Development morphogenesis of nephrogenic mesenchyme 1,99E-03 PBX1, RARB 2

Cancer, Cellular Development, Cellular Growth and Proliferation, Neurological Disease, Tumor Morphology proliferation of glioblastoma cells 1,99E-03 SRC, WNT5A 2

Cell Cycle mitogenesis of tumor cell lines 2,01E-03 PRKCA, PTPRN2, SRC, TGFA 4

Cancer, Gastrointestinal Disease gastrointestinal adenocarcinoma 2,02E-03

ABCA6, ADAMTSL1, AGAP1, AKR1C1/AKR1C2, AMPD2, ASAP1, ATF1, ATP4B, B3GNT6, BAI2, BRSK2, BTBD11, BTNL3, CUX1, DDHD1, DMBT1, DNAJC6, DNAJC7, FGFR1, FNDC3B, GABRP, GALNTL5, GGA1, GNAS, GPR37, GSTM1, HLA-C, HLA-DQA1, IGSF9B, IQGAP2, ITGA8, ITPR3, KDM5B, KIAA1804, LHX4, LRRC8D, MAGI2, MARCH5, MOV10, PCDHGA2, PLEKHA7, PRKCA, PRX, PTPRN2, SALL4, SLC50A1, SLC6A3, SRC, TBL1XR1, TFRC, TUT1, VEPH1, VIPR2, WSCD2, ZAN, ZDHHC14, ZNF506, ZNF707 58

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Cell-To-Cell Signaling and Interaction, Drug Metabolism, Molecular Transport, Small Molecule Biochemistry uptake of dopamine 2,11E-03 GPR37, SLC6A3, TGFA 3

Cancer, Gastrointestinal Disease gastrointestinal carcinoma 2,14E-03

AATK, ABCA6, ADAMTSL1, AGAP1, AKR1C1/AKR1C2, AMPD2, ASAP1, ATF1, ATP4B, B3GNT6, BAI2, BRSK2, BTBD11, BTNL3, CUX1, DDHD1, DMBT1, DNAJC6, DNAJC7, FBLN2, FGFR1, FNDC3B, GABRP, GALNTL5, GGA1, GNA12, GNAS, GPR37, GSTM1, HLA-C, HLA-DQA1, IGSF9B, IQGAP2, ITGA8, ITPR3, JPH3, KDM5B, KIAA1804, LHX4, LRRC8D, MAGI2, MARCH5, MOV10, PCDHGA2, PLEKHA7, PRKCA, PRX, PTPRN2, SALL4, SLC50A1, SLC6A3, SRC, TBL1XR1, TFRC, TUT1, VEPH1, VIPR2, WSCD2, ZAN, ZDHHC14, ZNF506, ZNF707 62

Cancer, Gastrointestinal Disease rectum tumor 2,20E-03B3GNT6, DDHD1, FGFR1, GABRP, GNAS, HLA-DQA1, IQGAP2, ITPR3, KIAA1804, ZNF707 10

Cell Death and Survival cell death 2,21E-03

AATK, ABCC1, AIFM3, ALOX12, ATF1, CCAR2, CHMP3, CHTF18, CLDN4, COL6A1, CSK, CUL4A, CUX1, DEPTOR, DUSP22, FBL, FCGR2C, FGFR1, GABRP, GNA12, GNAS, GPR37, GRIK3, GSTM1, HCRTR1, HLA-DRB1, HMOX2, HTATIP2, IQGAP2, ISM1, ITPR3, JPH3, LHX4, MAD1L1, MCF2L, MCOLN1, MTA1, NCF2, NFIC, NTN1, PCDHGA2, PRKCA, PROCR, RARB, RCAN1, RPS6KA2, SCD, SLC6A3, SLC9A3R2, SPIB, SRC, ST8SIA2, TBL1XR1, TCF3, TFRC, TGFA, TRIM35, VASP, VIPR2, WNT5A, XCL1, YWHAG 62

Cell Death and Survival necrosis 2,41E-03

AATK, ABCC1, AIFM3, ALOX12, ATF1, CCAR2, COL6A1, CSK, CUX1, DEPTOR, FGFR1, GABRP, GNA12, GNAS, GPR37, GSTM1, HCRTR1, HMOX2, HTATIP2, IQGAP2, ISM1, ITPR3, JPH3, MAD1L1, MCF2L, MCOLN1, MTA1, NCF2, NFIC, NTN1, PCDHGA2, PRKCA, PROCR, RARB, RCAN1, RPS6KA2, SCD, SLC6A3, SLC9A3R2, SPIB, SRC, ST8SIA2, TBL1XR1, TCF3, TFRC, TGFA, VIPR2, WNT5A, XCL1, YWHAG 50

Behavior learning 2,44E-03CHRNB2, CSK, ITGA8, ITPR3, JPH3, PRKCA, PTPRN2, RARB, RCAN1, SHANK2, SLC6A3, ST8SIA2 12

Organismal Functions movement of rodents 2,57E-03 FGFR1, GNAS, GPR37, HCN2, JPH3, SHANK2, SLC6A3, VIPR2 8

Developmental Disorder hypoplasia of secretory structure 2,61E-03 LHX4, PBX1, SCD, SLC6A3 4

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Cancer, Organismal Injury and Abnormalities, Reproductive System Disease development of mammary tumor 2,62E-03 CUX1, MTA1, TGFA 3

Digestive System Development and Function, Organismal Development abnormal morphology of anus 2,63E-03 SALL4, WNT5A 2

Connective Tissue Development and Function, Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development abnormal morphology of hyoid bone lesser horn 2,63E-03 FGFR1, PBX1 2

Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Tissue Development, Visual System Development and Function abnormal morphology of inner plexiform layer 2,63E-03 MCOLN1, RARB 2

Cellular Assembly and Organization accumulation of zymogen granules 2,63E-03 ITPR3, RPH3AL 2

Cell Morphology, Cell-To-Cell Signaling and Interaction, Tissue Development morphology of focal adhesions 2,63E-03 ASAP1, SRC 2

Renal and Urological System Development and Function abnormal morphology of Urinary system 2,67E-03 AMPD2, CHRNB2, CLDN4, ITGA8, MCOLN1, PBX1, RARB, SALL4, WNT5A 9

Gastrointestinal Disease, Hepatic System Disease, Inflammatory Disease, Organismal Injury and Abnormalities primary biliary cirrhosis 2,68E-03 ABCC1, FGFR1, HLA-DQB1, TGFA, WNT5A 5

Cellular Movement, Hematological System Development and Function, Immune Cell Trafficking, Inflammatory Response chemotaxis of natural killer cells 2,90E-03 GNA12, GNAS, XCL1 3

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Cell-To-Cell Signaling and Interaction, Drug Metabolism, Small Molecule Biochemistry metabolism of dopamine 2,90E-03 CHRNB2, GPR37, SLC6A3 3

Neurological Disease, Psychological Disorders attention deficit hyperactivity disorder 2,96E-03 ASTN2, CHRNB2, GABRP, SLC6A3 4

Cancer, Hematological Disease bone marrow neoplasm 2,97E-03ABCC1, ALOX12, ARHGAP26, ATP4B, CLDN14, COL17A1, CUX1, FGFR1, GNAS, GSTM1, GSTT1, MAGI2, PBX1, RARB, RPL28, SHANK2, SLC6A3, SRC, TCF3 19

Neurological Disease, Psychological Disorders bipolar disorder 3,25E-03

ALOX12, CHRNB2, FNDC3B, GABRP, GNAS, HTR1D, MRPL3, PRKCA, RFX4, SLC6A3 10

Tissue Morphology abnormal morphology of nephrogenic zone 3,36E-03 PBX1, RARB 2

Carbohydrate Metabolism, Drug Metabolism, Molecular Transport, Small Molecule Biochemistry accumulation of doxorubicin 3,36E-03 ABCC1, PRKCA 2

Embryonic Development elongation of embryonic tissue 3,36E-03 PBX1, WNT5A 2

Cancer, Gastrointestinal Disease, Hepatic System Disease, Tumor Morphology size of hepatocellular carcinoma 3,36E-03 IQGAP2, TGFA 2

Psychological Disorders hyperactive behavior 3,50E-03 CHRNB2, FGFR1, GNAS, RCAN1, SHANK2, SLC6A3 6

Nervous System Development and Function, Tissue Morphology quantity of dopaminergic neurons 3,51E-03 SLC6A3, TGFA, WNT5A 3

Cell-To-Cell Signaling and Interaction, Cellular Assembly and Organization, Tissue Development quantity of actin stress fibers 3,53E-03 AGAP1, CSK, SLC9A3R2, SRC 4

Cell-To-Cell Signaling and Interaction, Nervous System Development and Function action potential of cells 3,74E-03 CHRNB2, HCN2, JPH3, PRX, RARB, SHANK2 6

Cancer, Organismal Injury and Abnormalities, Reproductive System Disease tumorigenesis of mammary tumor 3,74E-03 FGFR1, MTA1, SRC, TGFA 4

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Organ Morphology, Respiratory System Development and Function abnormal morphology of trachea 3,85E-03 ANO1, RARB, WNT5A 3

Immunological Disease, Infectious Disease acquired immunodeficiency syndrome 3,85E-03 ALOX12, FCGR2C, HLA-C 3

Cancer, Gastrointestinal Disease colorectal cancer 3,94E-03

ADAMTSL1, AGAP1, AKR1C1/AKR1C2, AMPD2, ASAP1, ATF1, B3GNT6, BAI2, BRSK2, BTBD11, BTNL3, CLDN4, COL6A1, CUL4A, CUX1, DDHD1, DMBT1, DNAJC6, DNAJC7, FGFR1, GABRP, GALNTL5, GGA1, GNA12, GNAS, GPR37, GSTM1, GSTT1, HLA-C, HLA-DQA1, IGSF9B, IQGAP2, ITGA8, ITPR3, JPH3, KDM5B, KIAA1804, LHX4, LRRC8D, MAGI2, MARCH5, MOV10, PCDHGA2, PLEKHA7, PRKCA, PRX, PSMA7, PTPRN2, RPH3AL, SALL4, SLC50A1, SLC6A3, SRC, TBL1XR1, TFRC, TRIM9, TUT1, VEPH1, VIPR2, WNT5A, WSCD2, XCL1, ZAN, ZNF506, ZNF707 65

Cell Signaling, Nucleic Acid Metabolism, Small Molecule Biochemistry binding of GTP 3,95E-03 ADAP1, GGA1, GNA12, PRKCA 4

Embryonic Development, Organismal Development morphogenesis of embryo 4,01E-03 FGFR1, GNA12, GNAS, ITGA8, PBX1, RARB, SALL4, WNT5A 8

Lymphoid Tissue Structure and Development morphology of lymph follicle 4,10E-03 GNA12, HLA-DQB1, PBX1, SPIB, SRC 5

Lipid Metabolism, Molecular Transport, Small Molecule Biochemistry accumulation of eicosanoid 4,17E-03 ABCC1, SRC 2

Cellular Assembly and Organization cross-linkage of actin filaments 4,17E-03 AKR1C1/AKR1C2, IQGAP2 2

Organismal Functions grasping 4,18E-03 JPH3, MCOLN1, PRX, SHANK2 4

Cancer, Hematological Disease bone marrow cancer 4,23E-03ABCC1, ALOX12, ARHGAP26, CLDN14, COL17A1, CUX1, FGFR1, GNAS, GSTM1, GSTT1, MAGI2, PBX1, RARB, RPL28, SHANK2, SLC6A3, SRC, TCF3 18

Cell Morphology, Organ Morphology morphology of exocrine cells 4,41E-03 ATP4B, ITPR3, MCOLN1, TGFA 4

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Cancer, Cellular Development, Cellular Growth and Proliferation, Neurological Disease, Tumor Morphology proliferation of glioma cells 4,58E-03 FGFR1, SRC, WNT5A 3

Cell Death and Survival cell viability of tumor cell lines 4,62E-03ABCC1, ALOX12, ATF1, CLDN4, CUX1, DUSP22, FGFR1, GSTM1, HTATIP2, IGF2BP3, MCOLN1, NTN1, PBX1, PRKCA, PTPRN2, RCAN1, SRC, TGFA 18

Neurological Disease, Psychological Disorders insomnia 4,65E-03 ATP4B, CHRNB2, GABRP, SLC6A3 4

Cell-To-Cell Signaling and Interaction, Nervous System Development and Function long-term potentiation of synapse 4,67E-03 GRIK3, ITGA8, JPH3, RARB, SHANK2, SLC6A3 6

Cancer, Gastrointestinal Disease colon cancer 4,72E-03

ADAMTSL1, AGAP1, AKR1C1/AKR1C2, AMPD2, ASAP1, ATF1, B3GNT6, BAI2, BRSK2, BTBD11, BTNL3, CLDN4, COL6A1, CUX1, DDHD1, DMBT1, DNAJC6, DNAJC7, FGFR1, GABRP, GALNTL5, GGA1, GNA12, GNAS, GPR37, GSTM1, GSTT1, HLA-C, HLA-DQA1, IGSF9B, IQGAP2, ITGA8, JPH3, KDM5B, LHX4, LRRC8D, MAGI2, MARCH5, MOV10, PCDHGA2, PLEKHA7, PRKCA, PRX, PSMA7, PTPRN2, SALL4, SLC50A1, SLC6A3, SRC, TBL1XR1, TFRC, TUT1, VEPH1, VIPR2, WSCD2, ZAN, ZNF506, ZNF707 58

Cellular Movement migration of cells 4,79E-03

ABCC1, ALOX12, ASAP1, CLDN4, COL17A1, CSK, CUL4A, CUX1, DEPTOR, DMBT1, EBF3, FBLN2, FGFR1, FHOD1, FNDC3B, GALNT2, GNA12, GNAS, HTATIP2, ITGA8, KIAA0319, MAGI2, MCF2L, MTA1, NFIC, NTN1, PRKCA, PROCR, RCAN1, SLC9A3R2, SRC, ST8SIA2, TCF3, TGFA, VASP, WNT5A, XCL1 37

Nervous System Development and Function, Tissue Morphology quantity of central nervous system cells 4,82E-03 FGFR1, LHX4, NTN1, SLC6A3, ST8SIA2, TGFA 6

Nervous System Development and Function abnormal morphology of hypoglossal nerve 5,07E-03 LHX4, RARB 2

Tissue Development aggregation of muscle cells 5,07E-03 NTN1, WNT5A 2

Skeletal and Muscular System Development and Function fusion of occipital bone 5,07E-03 FGFR1, RARB 2

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Cancer, Hematological Disease, Immunological Disease, Organismal Injury and Abnormalities tumorigenesis of diffuse lymphoma 5,07E-03 PBX1, TCF3 2

Cancer carcinoma 5,17E-03

AATK, ABCA6, ADAMTSL1, AGAP1, AKR1C1/AKR1C2, ALOX12, AMN, AMPD2, ANO1, ASAP1, ASTN2, ATF1, ATP4B, ATP9B, B3GNT6, BAI2, BICD2, BRSK2, BTBD11, BTNL3, CHMP3, CLDN4, COL17A1, CUX1, DDHD1, DENND3, DMBT1, DNAJC6, DNAJC7, DNALI1, EXOC7, FAM222B, FBLN2, FGFR1, FNDC3B, GABRP, GALNTL5, GGA1, GNA12, GNAS, GPR111, GPR133, GPR37, GPR85, GSTM1, GSTT1, HLA-C, HLA-DQA1, HLA-DRB1, HTATIP2, IGSF9B, IQGAP2, ITGA8, ITPR3, JPH3, KDM5B, KIAA1804, LHX4, LRRC8D, MAD1L1, MAGI2, MARCH5, MCOLN1, MOV10, MTA1, MYADML2, MYOM2, NSUN5P2, OR10X1, PBX1, PCDHA6, PCDHGA2, PLEKHA7, POTEM (includes others), PRKCA, PRX, PTPRN2, RARB, RIMBP2, RPS6KA2, SALL4, SCD, SHANK2, SLC4A11, SLC50A1, SLC6A3, SRC, TBL1XR1, TFRC, TGFA, TMCO5A, TRIM9, TUT1, UPK3B, VEPH1, VIPR2, WNT5A, WSCD2, YBEY, YWHAG, ZAN, ZDHHC14, ZFYVE28, ZMAT2, ZNF506, ZNF707 106

Developmental Disorder, Organismal Injury and Abnormalities, Renal and Urological Disease hypertrophy of renal glomerulus 5,38E-03 DEPTOR, RARB, SRC 3

Neurological Disease, Psychological Disorders delirium 5,42E-03 CHRNB2, GABRP, HTR1D, SLC6A3 4

Cellular Assembly and Organization formation of membrane ruffles 5,42E-03 AGAP1, ASAP1, IQGAP2, SRC 4

Inflammatory Disease chronic inflammatory disorder 5,49E-03

ALOX12, ATP4B, B3GNT6, DIP2C, DMBT1, FCGR2C, GABRP, GALNT2, HLA-C, HLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-DRB5, ITPR3, PROCR, PTPRN2, SLC6A3, SRC, TFRC, VIPR2, WNT5A, WSCD2, XCL1 23

Developmental Disorder, Organismal Injury and Abnormalities, Renal and Urological Disease hypoplasia of kidney 5,82E-03 PBX1, RARB, SALL4 3

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Cellular Growth and Proliferation proliferation of cells 5,85E-03

AATK, ABCC1, AKR1C1/AKR1C2, ALOX12, ALPPL2, ATF1, BRSK2, CHRNB2, CLDN4, COL6A1, CSK, CUL4A, CUX1, DEPTOR, DUSP22, FBLN2, FGFR1, FNDC3B, GABRP, GALNT2, GGA1, GNA12, GNAS, GSTM1, HBP1, HLA-DQA1, HLA-DQB1, HLA-DRB1, HTATIP2, IGF2BP3, IL4I1, IQGAP2, ITPR3, KDM5B, LHX4, MAD1L1, MAGI2, MCF2L, MTA1, NCF2, NFIC, NTN1, PBX1, POLR2J, PRKCA, PROCR, RARB, RCAN1, RPH3AL, RPS6KA2, SALL4, SCD, SLC9A3R2, SPIB, SRC, ST8SIA2, TCF3, TFRC, TGFA, TRIM35, VASP, WNT5A, XCL1, YWHAG 64

Tissue Morphology abnormal morphology of enlarged allantois 6,04E-03 CSK, FGFR1 2

Digestive System Development and Function, Organ Morphology, Organismal Development abnormal morphology of rectum 6,04E-03 SALL4, WNT5A 2

Embryonic Development, Organismal Development, Tissue Development development of second branchial arch 6,04E-03 FGFR1, PBX1 2

Cancer, Cell Morphology shape change of tumor cells 6,04E-03 GNA12, NTN1 2

Cancer, Cellular Movement, Tumor Morphology invasion of cancer cells 6,22E-03 CLDN4, GNA12, SRC, VASP, WNT5A 5

Cancer, Gastrointestinal Disease rectum cancer 6,24E-03B3GNT6, DDHD1, FGFR1, GABRP, HLA-DQA1, IQGAP2, ITPR3, KIAA1804, ZNF707 9

Lipid Metabolism, Small Molecule Biochemistry metabolism of eicosanoid 6,26E-03 ABCC1, AKR1C1/AKR1C2, ALOX12, HMOX2, NTN1, PRKCA, RARB, TGFA 8

Cancer, Gastrointestinal Disease colorectal adenocarcinoma 6,39E-03

ADAMTSL1, AGAP1, AKR1C1/AKR1C2, AMPD2, ASAP1, ATF1, B3GNT6, BAI2, BRSK2, BTBD11, BTNL3, CUX1, DDHD1, DMBT1, DNAJC6, DNAJC7, FGFR1, GABRP, GALNTL5, GGA1, GNAS, GPR37, GSTM1, HLA-C, HLA-DQA1, IGSF9B, IQGAP2, ITGA8, ITPR3, KDM5B, KIAA1804, LHX4, LRRC8D, MAGI2, MARCH5, MOV10, PCDHGA2, PLEKHA7, PRKCA, PRX, PTPRN2, SALL4, SLC50A1, SLC6A3, SRC, TBL1XR1, TFRC, TUT1, VEPH1, VIPR2, WSCD2, ZAN, ZNF506, ZNF707 54

Organismal Development morphology of head 6,44E-03BRSK2, CHRNB2, DMRT3, FGFR1, GNAS, GPR37, LHX4, MCOLN1, NFIC, NTN1, PBX1, RARB, SALL4, SCD, SLC4A11, SLC6A3, SRC, ST8SIA2, TGFA, WNT5A 20

Auditory and Vestibular System Development and Function, Embryonic Development, Organ Development, Organ Morphology,

morphogenesis of inner ear 6,58E-03 FGFR1, ITGA8, NTN1, WNT5A 4

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Organismal Development, Tissue Development

Auditory and Vestibular System Development and Function, Connective Tissue Development and Function, Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development abnormal morphology of middle ear ossicle 6,74E-03 FGFR1, PBX1, RARB 3

Lipid Metabolism, Molecular Transport, Small Molecule Biochemistry accumulation of fatty acid 6,74E-03 ABCC1, SCD, SRC 3

Cellular Movement, Hematological System Development and Function, Immune Cell Trafficking migration of leukocyte cell lines 6,74E-03 CSK, SRC, WNT5A 3

Behavior, Nervous System Development and Function passive avoidance learning 6,74E-03 CHRNB2, JPH3, ST8SIA2 3

Cancer, Hematological Disease leukemia 6,78E-03ABCC1, ALOX12, ARHGAP26, CLDN14, COL17A1, CUX1, FCGR2C, FGFR1, GSTM1, GSTT1, MAGI2, PBX1, RARB, SHANK2, SLC6A3, SRC, TCF3 17

Cancer, Tumor Morphology invasion of malignant tumor 7,04E-03 CLDN4, GNA12, SRC, TGFA, VASP, WNT5A 6

Developmental Disorder, Organismal Injury and Abnormalities, Renal and Urological Disease developmental delay of kidney 7,10E-03 GNAS, PBX1 2

Organismal Injury and Abnormalities fistula 7,10E-03 RARB, SALL4 2

Developmental Disorder, Organismal Injury and Abnormalities, Renal and Urological Disease hypertrophy of mesangial cells 7,10E-03 DEPTOR, SRC 2

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Cellular Movement, Hematological System Development and Function, Immune Cell Trafficking migration of B-lymphocyte derived cell lines 7,10E-03 CSK, SRC 2

Behavior self-administration 7,10E-03 CHRNB2, SRC 2

Cell Death and Survival apoptosis of stomach cancer cell lines 7,24E-03 ALOX12, CUX1, PRKCA 3

Cancer tumorigenesis of malignant tumor 7,39E-03 B3GNT6, DIP2C, FNDC3B, GSTM1, MTA1, PBX1, SRC, TCF3 8

Psychological Disorders depressive disorder 7,70E-03 CHRNB2, DEAF1, DIP2C, FGFR1, GABRP, HTR1D, RCAN1, SLC6A3 8

Embryonic Development, Endocrine System Development and Function, Organ Development, Organismal Development, Reproductive System Development and Function, Tissue Development development of pituitary gland 7,75E-03 LHX4, SLC6A3, WNT5A 3

Behavior behavior 7,75E-03

CHRNB2, CSK, GNAS, HCRTR1, ITGA8, ITPR3, JPH3, LPHN1, MCOLN1, NFIC, PBX1, PRKCA, PTPRN2, RARB, RCAN1, SCD, SHANK2, SLC6A3, SRC, ST8SIA2, VIPR2 21

Organismal Development abnormal morphology of head 7,79E-03BRSK2, CHRNB2, DMRT3, FGFR1, GNAS, GPR37, LHX4, MCOLN1, NFIC, PBX1, RARB, SALL4, SCD, SLC4A11, SLC6A3, SRC, ST8SIA2, TGFA, WNT5A 19

Cancer breast or colorectal cancer 7,81E-03

ADAMTSL1, AGAP1, AKR1C1/AKR1C2, AMPD2, APOBEC3G, ASAP1, ATF1, B3GNT6, BAI2, BRSK2, BTBD11, BTNL3, CLDN4, COL6A1, CUL4A, CUX1, DDHD1, DMBT1, DNAJC6, DNAJC7, DNALI1, FGFR1, GABRP, GALNTL5, GGA1, GNA12, GNAS, GPR37, GSTM1, GSTT1, HBP1, HLA-C, HLA-DQA1, HLA-DRB1, IGSF9B, IQGAP2, ITGA8, ITPR3, JPH3, KDM5B, KIAA1804, LHX4, LRRC8D, MAD1L1, MAGI2, MARCH5, MOV10, MTA1, PCDHGA2, PLEKHA7, POTEM (includes others), PRKCA, PRX, PSMA7, PTPRN2, RPH3AL, SALL4, SLC4A11, SLC50A1, SLC6A3, SRC, TBL1XR1, TFRC, TGFA, TRIM9, TUT1, VEPH1, VIPR2, WNT5A, WSCD2, XCL1, ZAN, ZNF506, ZNF707 74

Cardiovascular Disease reperfusion injury 7,89E-03 ALOX12, GABRP, GNA12, NTN1 4

Cancer, Gastrointestinal Disease colorectal carcinoma 8,08E-03 ADAMTSL1, AGAP1, AKR1C1/AKR1C2, AMPD2, ASAP1, ATF1, B3GNT6, BAI2, BRSK2, BTBD11, BTNL3, CUX1, DDHD1, DMBT1, DNAJC6, DNAJC7, FGFR1, GABRP, GALNTL5, GGA1, GNAS, GPR37, GSTM1, HLA-C, HLA-DQA1, IGSF9B, IQGAP2, ITGA8, ITPR3, JPH3, KDM5B, KIAA1804, LHX4, LRRC8D, MAGI2,

55

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MARCH5, MOV10, PCDHGA2, PLEKHA7, PRKCA, PRX, PTPRN2, SALL4, SLC50A1, SLC6A3, SRC, TBL1XR1, TFRC, TUT1, VEPH1, VIPR2, WSCD2, ZAN, ZNF506, ZNF707

Cellular Development, Cellular Growth and Proliferation proliferation of leukemia cell lines 8,16E-03 CUL4A, IGF2BP3, SALL4, SRC, TCF3, WNT5A, YWHAG 7

Cancer adenocarcinoma 8,20E-03

ABCA6, ADAMTSL1, AGAP1, AKR1C1/AKR1C2, ALOX12, AMPD2, ASAP1, ASTN2, ATF1, ATP4B, ATP9B, B3GNT6, BAI2, BICD2, BRSK2, BTBD11, BTNL3, CHMP3, COL17A1, CUX1, DDHD1, DENND3, DMBT1, DNAJC6, DNAJC7, EXOC7, FAM222B, FGFR1, FNDC3B, GABRP, GALNTL5, GGA1, GNA12, GNAS, GPR111, GPR133, GPR37, GPR85, GSTM1, HLA-C, HLA-DQA1, HTATIP2, IGSF9B, IQGAP2, ITGA8, ITPR3, KDM5B, KIAA1804, LHX4, LRRC8D, MAD1L1, MAGI2, MARCH5, MCOLN1, MOV10, MTA1, MYOM2, NSUN5P2, OR10X1, PBX1, PCDHA6, PCDHGA2, PLEKHA7, POTEM (includes others), PRKCA, PRX, PTPRN2, RIMBP2, RPS6KA2, SALL4, SCD, SLC50A1, SLC6A3, SRC, TBL1XR1, TFRC, TRIM9, TUT1, UPK3B, VEPH1, VIPR2, WNT5A, WSCD2, YBEY, ZAN, ZDHHC14, ZMAT2, ZNF506, ZNF707 89

Organ Morphology, Renal and Urological System Development and Function

abnormal morphology of distended urinary bladder 8,22E-03 CHRNB2, MCOLN1 2

Cell-To-Cell Signaling and Interaction, Nervous System Development and Function afterhyperpolarization of neurons 8,22E-03 HCN2, JPH3 2

Auditory and Vestibular System Development and Function, Connective Tissue Development and Function, Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development lack of middle ear ossicle 8,22E-03 FGFR1, PBX1 2

Nervous System Development and Function, Tissue Morphology quantity of pyramidal neurons 8,22E-03 FGFR1, ST8SIA2 2

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Organismal Development size of body 8,32E-03ANO1, CHTF18, DNAJC6, GNAS, GPR85, HCN2, ITPR3, JPH3, MCOLN1, NFIC, PBX1, RARB, RCAN1, SHANK2, SLC6A3, SRC, ST8SIA2, TGFA, VIPR2, WNT5A 20

Neurological Disease, Skeletal and Muscular Disorders neuromuscular disease 8,80E-03

ADAMTSL1, DNAJC6, FBL, FCGR2C, GABRP, GNAS, HBP1, HLA-DQA1, HLA-DQB1, HLA-DRB1, HMOX2, MT1L, MYOM2, MYT1L, RARB, RCAN1, RFX4, SCD, SLC6A3, ST8SIA2 20

Cellular Function and Maintenance cellular homeostasis 8,86E-03

ABCC1, AIFM3, CHRNB2, CLDN14, CLDN4, CSK, DEPTOR, GNA12, GNAS, GPR37, GRIK3, HCN2, HLA-DQA1, HLA-DQB1, HTR1D, ITPR3, JPH3, MAD1L1, MCOLN1, PRKCA, PROCR, RPH3AL, SCD, SPIB, SRC, TBC1D16, TCF3, TFRC, VASP 29

Cell Death and Survival cell viability of lung cancer cell lines 8,97E-03 ABCC1, HTATIP2, SRC, TGFA 4

Embryonic Development, Organ Development, Organismal Development, Renal and Urological System Development and Function, Reproductive System Development and Function, Tissue Development development of metanephric bud 9,36E-03 FGFR1, ITGA8, PBX1, RARB 4

Cancer, Hematological Disease myeloid leukemia 9,37E-03 ABCC1, ARHGAP26, CUX1, FGFR1, GSTM1, GSTT1, RARB, SRC 8

Infectious Disease infection by RNA virus 9,38E-03

ALOX12, BICD2, CHRNB2, FBL, FCGR2C, GABRP, HLA-C, LRRC8D, MYADML2, NDUFS6, NTN1, PDIA6, POLR2J, PRKCA, PSMA7, PTPRN2, RARB, SLC6A3, TFRC, XCL1 20

Cancer transformation of epithelial cell lines 9,42E-03 MTA1, PBX1, SRC 3

Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Tissue Development, Visual System Development and Function abnormal morphology of anterior chamber of eye 9,43E-03 RARB, TGFA 2

Skeletal and Muscular System Development and Function fusion of atlas 9,43E-03 FGFR1, RARB 2

Cellular Assembly and Organization, Cellular Function and Maintenance, Inflammatory Response fusion of phagosomes 9,43E-03 PRKCA, SRC 2

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Amino Acid Metabolism, Small Molecule Biochemistry incorporation of leucine 9,43E-03 ALOX12, TGFA 2

Cellular Movement migration of smooth muscle cell lines 9,43E-03 SRC, TGFA 2

Cancer transformation of hematopoietic progenitor cells 9,43E-03 PBX1, SRC 2

Gene Expression expression of RNA 9,51E-03

ALOX12, APOBEC3G, ATF1, CUL4A, CUX1, DEAF1, DUSP22, EBF3, FGFR1, FHOD1, GNA12, HBP1, HTATIP2, IGF2BP3, KDM5B, MAD1L1, MAGI2, MCF2L, MTA1, MYT1L, NFIC, PBX1, POLR2J, PRKCA, RARB, RCAN1, RFX4, RPS6KA2, SALL4, SPIB, SRC, TBL1XR1, TCF3, TGFA, VASP, WNT5A, XCL1, YAF2 38

Cancer, Gastrointestinal Disease rectal adenocarcinoma 9,55E-03 B3GNT6, DDHD1, GABRP, HLA-DQA1, IQGAP2, ITPR3, KIAA1804, ZNF707 8

Cell-To-Cell Signaling and Interaction, Nervous System Development and Function action potential of neurons 9,90E-03 HCN2, JPH3, PRX, RARB, SHANK2 5

Dermatological Diseases and Conditions exanthem 9,90E-03 GSTM1, HLA-C, RARB, TGFA, WNT5A 5

Developmental Disorder, Hereditary Disorder, Metabolic Disease 5-oxoprolinase deficiency 9,91E-03 OPLAH 1

Connective Tissue Disorders, Developmental Disorder, Endocrine System Disorders, Hereditary Disorder, Metabolic Disease, Skeletal and Muscular Disorders Albright hereditary osteodystrophy 9,91E-03 GNAS 1

Hereditary Disorder, Ophthalmic Disease Harboyan syndrome 9,91E-03 SLC4A11 1

Connective Tissue Disorders, Developmental Disorder, Gastrointestinal Disease, Hereditary Disorder, Neurological Disease, Organismal Injury and Abnormalities, Skeletal and Muscular Disorders Hartsfield syndrome 9,91E-03 FGFR1 1

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Hereditary Disorder, Neurological Disease Huntington disease like-2 9,91E-03 JPH3 1

Hereditary Disorder, Skeletal and Muscular Disorders IVIC syndrome 9,91E-03 SALL4 1

Developmental Disorder, Endocrine System Disorders, Neurological Disease, Organismal Injury and Abnormalities, Reproductive System Disease, Respiratory Disease Kallmann syndrome type 2 9,91E-03 FGFR1 1

Developmental Disorder, Hereditary Disorder, Metabolic Disease, Neurological Disease Mitochondrial complex I deficiency of brain 9,91E-03 NDUFS6 1

Developmental Disorder, Gastrointestinal Disease, Hepatic System Disease, Hereditary Disorder, Metabolic Disease Mitochondrial complex I deficiency of liver 9,91E-03 NDUFS6 1

Hereditary Disorder Okihiro syndrome 9,91E-03 SALL4 1

Auditory and Vestibular System Development and Function, Organ Morphology, Tissue Morphology abnormal morphology of oval window 9,91E-03 PBX1 1

Carbohydrate Metabolism, Drug Metabolism, Molecular Transport, Small Molecule Biochemistry accumulation of daunorubicin 9,91E-03 ABCC1 1

Drug Metabolism, Molecular Transport, Small Molecule Biochemistry accumulation of flutamide 9,91E-03 ABCC1 1

Lipid Metabolism, Molecular Transport, Small Molecule Biochemistry accumulation of palmitoleic acid 9,91E-03 SCD 1

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Lipid Metabolism, Molecular Transport, Small Molecule Biochemistry accumulation of thromboxane B2 9,91E-03 SRC 1

Cell-To-Cell Signaling and Interaction activation of fibrosarcoma cell lines 9,91E-03 B3GNT6 1

Developmental Disorder agenesis of genital tubercle 9,91E-03 WNT5A 1

Cellular Assembly and Organization, Post-Translational Modification aggregation of G-actin 9,91E-03 VASP 1

Dermatological Diseases and Conditions, Immunological Disease, Inflammatory Disease, Inflammatory Response allergic contact eczema 9,91E-03 HLA-C 1

Dermatological Diseases and Conditions, Immunological Disease anaphylaxis of skin 9,91E-03 VIPR2 1

Cell Death and Survivalapoptosis of granulocyte-macrophage progenitor cells 9,91E-03 MAD1L1 1

Cell Death and Survival apoptosis of preodontoblasts 9,91E-03 NFIC 1

Cancer, Tumor Morphology area of malignant tumor 9,91E-03 TGFA 1

Cell Cycle, Reproductive System Development and Function

arrest in G0/G1 phase transition of breast cell lines 9,91E-03 PRKCA 1

Cell Cycle, Hair and Skin Development and Function

arrest in G0/G1 phase transition of epithelial cell lines 9,91E-03 PRKCA 1

Cell Cycle, Digestive System Development and Function

arrest in cell cycle progression of intestinal cell lines 9,91E-03 PRKCA 1

Cellular Development, Cellular Growth and Proliferation arrest in growth of adenocarcinoma cell lines 9,91E-03 TCF3 1

Cancer, Cellular Development, Cellular Growth and Proliferation, Neurological Disease, Organismal Injury and Abnormalities, Tumor

arrest in growth of neuroblastoma cells 9,91E-03 RARB 1

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Morphology

Cell-To-Cell Signaling and Interaction, Cellular Assembly and Organization, Cellular Function and Maintenance, Tissue Development assembly of fibrillar adhesions 9,91E-03 SRC 1

Developmental Disorder, Hereditary Disorder autosomal dominant Robinow syndrome 9,91E-03 WNT5A 1

Hereditary Disorder, Neurological Disease, Organismal Injury and Abnormalities, Skeletal and Muscular Disorders

autosomal dominant lower extremity-predominant spinal muscular atrophy 2 9,91E-03 BICD2 1

Auditory Disease, Hereditary Disorder, Neurological Disease autosomal recessive deafness DFNB29 9,91E-03 CLDN14 1

Auditory Disease, Hereditary Disorder, Neurological Disease autosomal recessive deafness type 29 9,91E-03 CLDN14 1

Hereditary Disorder, Neurological Disease autosomal recessive spastic paraplegia type 28 9,91E-03 DDHD1 1

Gene Expression binding of N-box motif 9,91E-03 PRKCA 1

Gene Expression binding of Tgf alpha response element 9,91E-03 TGFA 1

Cell Morphology budding of epithelial cells 9,91E-03 FGFR1 1

Cell Cyclecell cycle progression of embryonic cancer cell lines 9,91E-03 RARB 1

Cell Death and Survival cell survival of stomach cancer cell lines 9,91E-03 CUX1 1

Cellular Growth and Proliferation clonogenicity of thyroid tumor cell lines 9,91E-03 WNT5A 1

Molecular Transport co-transport of arsenite 9,91E-03 ABCC1 1

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Carbohydrate Metabolism, Drug Metabolism, Molecular Transport, Small Molecule Biochemistry co-transport of daunorubicin 9,91E-03 ABCC1 1

Drug Metabolism, Molecular Transport, Small Molecule Biochemistry co-transport of vincristine 9,91E-03 ABCC1 1

Developmental Disorder, Hereditary Disorder, Metabolic Disease, Organismal Injury and Abnormalities, Renal and Urological Disease combined malonic and methylmalonic aciduria 9,91E-03 ACSF3 1

Cardiovascular Disease, Hereditary Disorder, Metabolic Disease, Neurological Disease, Organismal Injury and Abnormalities, Skeletal and Muscular Disorders combined oxidative phosphorylation deficiency 9 9,91E-03 MRPL3 1

Developmental Disorder, Endocrine System Disorders, Organismal Injury and Abnormalities, Reproductive System Disease combined pituitary hormone deficiency-4 9,91E-03 LHX4 1

Cellular Development, Hematological System Development and Function, Hematopoiesis commitment of natural killer cells 9,91E-03 PRKCA 1

Developmental Disorder, Hereditary Disorder, Ophthalmic Disease

congenital hereditary endothelial dystrophy,ched 2 9,91E-03 SLC4A11 1

Developmental Disorder, Organismal Injury and Abnormalities, Skeletal and Muscular Disorders congenital malformation of intercalated disks 9,91E-03 VASP 1

Lipid Metabolism, Small Molecule Biochemistry conversion of lipoxin A4 9,91E-03 ALOX12 1

Behavior cued learning 9,91E-03 SLC6A3 1

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Cellular Compromise, Organismal Injury and Abnormalities damage of mucosa cells 9,91E-03 ABCC1 1

DNA Replication, Recombination, and Repair, Nucleic Acid Metabolism, Small Molecule Biochemistry deamination of deoxycytidine 9,91E-03 APOBEC3G 1

DNA Replication, Recombination, and Repair, Nucleic Acid Metabolism, Small Molecule Biochemistry deamination of deoxyuridine 9,91E-03 APOBEC3G 1

Cell Death and Survival delay in apoptosis of prostate cancer cell lines 9,91E-03 ALOX12 1

Cell Death and Survival delay in apoptosis of skin cancer cell lines 9,91E-03 ALOX12 1

Cell-To-Cell Signaling and Interaction, Drug Metabolism, Molecular Transport, Small Molecule Biochemistry delay in initiation of clearance of dopamine 9,91E-03 SLC6A3 1

Cellular Development, Cellular Growth and Proliferation, Embryonic Development, Organismal Development, Tissue Development

delay in initiation of proliferation of mesenchymal cells 9,91E-03 FGFR1 1

Neurological Disease deletion of cerebellar vermis 9,91E-03 FGFR1 1

Neurological Disease deletion of inferior colliculus 9,91E-03 FGFR1 1

Lipid Metabolism, Small Molecule Biochemistry desaturation of palmitic acid 9,91E-03 SCD 1

Lipid Metabolism, Small Molecule Biochemistry desaturation of palmitoleic acid 9,91E-03 SCD 1

Lipid Metabolism, Nucleic Acid Metabolism, Small Molecule Biochemistry desaturation of palmitoyl-coenzyme A 9,91E-03 SCD 1

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Lipid Metabolism, Nucleic Acid Metabolism, Small Molecule Biochemistry desaturation of stearoyl-coenzyme A 9,91E-03 SCD 1

Antimicrobial Response destruction of Murine leukemia virus 9,91E-03 APOBEC3G 1

Cellular Compromise, Organ Morphology destruction of spermatogenic cells 9,91E-03 ABCC1 1

Embryonic Development, Nervous System Development and Function, Organ Development, Organismal Development, Tissue Development development of lateral geniculate nucleus 9,91E-03 CHRNB2 1

Connective Tissue Development and Function, Digestive System Development and Function, Embryonic Development, Organ Development, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development development of mandibular incisor 9,91E-03 NFIC 1

Connective Tissue Development and Function, Digestive System Development and Function, Embryonic Development, Organ Development, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development development of maxillary incisor 9,91E-03 NFIC 1

Cellular Development, Nervous System Development and Function, Tissue Development differentiation of dopaminergic progenitor cells 9,91E-03 WNT5A 1

Cellular Assembly and Organization dissociation of Golgi apparatus 9,91E-03 GGA1 1

Cell-To-Cell Signaling and Interaction, Tissue Development dissociation of odontoblasts 9,91E-03 NFIC 1

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Cellular Movement distribution of astrocytes 9,91E-03 TGFA 1

Cellular Movement, Nervous System Development and Function distribution of cortical neurons 9,91E-03 NTN1 1

Drug Metabolism, Molecular Transport, Small Molecule Biochemistry efflux of flutamide 9,91E-03 ABCC1 1

Lipid Metabolism, Molecular Transport, Small Molecule Biochemistry efflux of leukotriene C4 9,91E-03 ABCC1 1

Amino Acid Metabolism, Drug Metabolism, Molecular Transport, Small Molecule Biochemistry efflux of methotrexate 9,91E-03 ABCC1 1

Cardiovascular System Development and Function, Visual System Development and Function electrical capacitance of retina 9,91E-03 CHRNB2 1

Cell Cycle, Digestive System Development and Function exit from cell cycle progression of enterocytes 9,91E-03 PRKCA 1

Cell Cycleexit from cell cycle progression of granulocyte-macrophage progenitor cells 9,91E-03 MAD1L1 1

Organismal Injury and Abnormalities, Skeletal and Muscular Disorders fatigue of soleus muscle 9,91E-03 RCAN1 1

Cell-To-Cell Signaling and Interaction, Cellular Assembly and Organization, Tissue Development formation of junctional complexes 9,91E-03 CLDN4 1

Auditory and Vestibular System Development and Function, Connective Tissue Development and Function, Embryonic Development, Organ Development, Organismal Development, Skeletal and Muscular System Development and Function,

formation of posterior semicircular canal 9,91E-03 NTN1 1

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Tissue Development

Auditory and Vestibular System Development and Function, Connective Tissue Development and Function, Embryonic Development, Organ Development, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development formation of superior semicircular canal 9,91E-03 NTN1 1

Embryonic Development, Organismal Development, Tissue Development formation of vestibular fusion plate 9,91E-03 NTN1 1

Ophthalmic Disease fuchs endothelial corneal dystrophy type 4 9,91E-03 SLC4A11 1

Embryonic Development, Tissue Morphology fusion of first branchial arch 9,91E-03 RARB 1

Embryonic Development, Tissue Morphology fusion of second branchial arch 9,91E-03 RARB 1

Cellular Growth and Proliferation, Nervous System Development and Function, Tissue Development generation of glutamatergic neuron 9,91E-03 FGFR1 1

Reproductive System Development and Function generation of uterine gland 9,91E-03 WNT5A 1

Hair and Skin Development and Function, Organ Development growth of hair shaft 9,91E-03 WNT5A 1

Neurological Disease handling-induced convulsion 9,91E-03 CHRNB2 1

Cellular Movement haptotaxis of colon cancer cell lines 9,91E-03 SRC 1

Neurological Disease hyperdopaminergia 9,91E-03 SLC6A3 1

Cell-To-Cell Signaling and Interactionhyperpermeability response of microvascular endothelial cells 9,91E-03 VASP 1

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Developmental Disorder, Endocrine System Disorders, Neurological Disease, Organismal Injury and Abnormalities, Reproductive System Disease

hypogonadotropic hypogonadism 2 without anosmia 9,91E-03 FGFR1 1

Developmental Disorder hypoplasia of first branchial arch 9,91E-03 RARB 1

Developmental Disorder, Endocrine System Disorders, Organismal Injury and Abnormalities, Reproductive System Disease

hypoplasia of intermediate lobe of the pituitary gland 9,91E-03 SLC6A3 1

Auditory Disease, Developmental Disorder hypoplasia of pinna 9,91E-03 PBX1 1

Dermatological Diseases and Conditions, Developmental Disorder hypoplasia of sebaceous glands 9,91E-03 SCD 1

Developmental Disorder hypoplasia of second branchial arch 9,91E-03 RARB 1

Developmental Disorder, Gastrointestinal Disease hypoplasia of stomach 9,91E-03 PBX1 1

Neurological Disease, Psychological Disorders infantile parkinsonism-dystonia 9,91E-03 SLC6A3 1

Cellular Compromise, Organismal Injury and Abnormalities injury of spermatogenic cells 9,91E-03 ABCC1 1

Cell Morphology, Nervous System Development and Function innervation of eye 9,91E-03 WNT5A 1

Cell Morphology, Nervous System Development and Function innervation of olfactory epithelium 9,91E-03 WNT5A 1

Endocrine System Development and Function insulin sensitivity of muscle 9,91E-03 GNAS 1

Cell-To-Cell Signaling and Interaction interferon gamma response of lymph node cells 9,91E-03 HLA-DQB1 1

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Connective Tissue Disorders, Developmental Disorder, Skeletal and Muscular Disorders interfrontal craniofaciosynostosis 9,91E-03 FGFR1 1

Cancer, Cellular Movement invasion of keratinocytes 9,91E-03 MTA1 1

Cancer, Cellular Movement, Gastrointestinal Disease, Tumor Morphology invasion of nasopharyngeal carcinoma cells 9,91E-03 GNA12 1

Hereditary Disorder, Neurological Disease, Psychological Disorders, Skeletal and Muscular Disorders juvenile-onset Parkinson disease type 19 9,91E-03 DNAJC6 1

Hereditary Disorder, Neurological Disease, Organismal Injury and Abnormalities, Skeletal and Muscular Disorders late-onset Charcot-Marie-Tooth disease type 4F 9,91E-03 PRX 1

Hereditary Disorder, Metabolic Disease

lethal neonatal mitochondrial complex I deficiency 9,91E-03 NDUFS6 1

Connective Tissue Disorders, Dermatological Diseases and Conditions, Developmental Disorder, Hereditary Disorder, Organismal Injury and Abnormalities localisata variant junctional epidermolysis bullosa 9,91E-03 COL17A1 1

Connective Tissue Development and Function, Skeletal and Muscular System Development and Function maintenance of bone 9,91E-03 SRC 1

RNA Damage and Repair metabolism of snoRNA 9,91E-03 FBL 1

Cancer metastasis of gastric cancer cells 9,91E-03 WNT5A 1

Cancer metastasis of pancreatic cancer cells 9,91E-03 WNT5A 1

Cancer, Organismal Injury and Abnormalities, Renal and Urological Disease metastatic renal cancer 9,91E-03 CLDN4 1

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Cellular Movement, Hematological System Development and Function, Immune Cell Trafficking, Inflammatory Response migration of alveolar macrophages 9,91E-03 DMBT1 1

Cell Morphology, Connective Tissue Development and Function, Skeletal and Muscular System Development and Function mineralization of calvarial cells 9,91E-03 SRC 1

Drug Metabolism, Small Molecule Biochemistry molar ratio of glutathione 9,91E-03 ABCC1 1

Embryonic Development, Nervous System Development and Function, Organ Development, Organ Morphology, Organismal Development, Tissue Development morphogenesis of mesencephalon 9,91E-03 WNT5A 1

Cell Morphology morphology of stomach cancer cell lines 9,91E-03 CSK 1

Developmental Disorder, Hereditary Disorder, Metabolic Disease, Neurological Disease mucolipidosis type IV 9,91E-03 MCOLN1 1

Cancer multiplicity of adenoma 9,91E-03 TGFA 1

Cardiovascular System Development and Function, Organismal Development, Reproductive System Development and Function neovascularization of placenta 9,91E-03 NTN1 1

Hereditary Disorder, Neurological Disease nocturnal frontal lobe epilepsy type 3 9,91E-03 CHRNB2 1

Cellular Function and Maintenance, Tissue Development organization of keratinocytes 9,91E-03 FGFR1 1

Connective Tissue Disorders, Developmental Disorder, Skeletal and Muscular Disorders osteoglophonic dysplasia 9,91E-03 FGFR1 1

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Cellular Development, Cellular Growth and Proliferation, Nervous System Development and Function, Tissue Development outgrowth of precerebellar neuron 9,91E-03 NTN1 1

Connective Tissue Development and Function, Embryonic Development, Organ Development, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development outgrowth of skeleton 9,91E-03 WNT5A 1

Cellular Growth and Proliferation pluripotency of colony forming multilineage cells 9,91E-03 PBX1 1

Skeletal and Muscular Disorders progressive osseous heteroplasia 9,91E-03 GNAS 1

Cellular Development, Cellular Growth and Proliferation, Nervous System Development and Function, Tissue Development proliferation of dopaminergic progenitor cells 9,91E-03 WNT5A 1

Cellular Development, Cellular Growth and Proliferation, Embryonic Development, Organismal Development proliferation of ectomesenchymal cells 9,91E-03 NFIC 1

Cellular Development, Cellular Growth and Proliferation, Tissue Development proliferation of goblet cells 9,91E-03 PRKCA 1

Developmental Disorder, Endocrine System Disorders, Hematological Disease, Hereditary Disorder, Metabolic Disease pseudopseudohypoparathyroidism 9,91E-03 GNAS 1

Lipid Metabolism, Molecular Transport, Small Molecule Biochemistry quantity of 1-alkyl-2,3-diacylglycerol 9,91E-03 SCD 1

Cell Death and Survival, Embryonic Development quantity of apoptotic embryonic cell lines 9,91E-03 AIFM3 1

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Cell Death and Survival quantity of apoptotic epithelial cell lines 9,91E-03 AIFM3 1

Cell Death and Survival quantity of apoptotic kidney cell lines 9,91E-03 AIFM3 1

Nervous System Development and Function, Tissue Morphology quantity of commissural neurons 9,91E-03 NTN1 1

Nervous System Development and Function, Tissue Morphology quantity of dopaminergic progenitor cells 9,91E-03 WNT5A 1

Lipid Metabolism, Molecular Transport, Nucleic Acid Metabolism, Small Molecule Biochemistry quantity of palmitoleoyl-coenzyme A 9,91E-03 SCD 1

Drug Metabolism, Endocrine System Development and Function, Lipid Metabolism, Small Molecule Biochemistry reduction of progesterone 9,91E-03 AKR1C1/AKR1C2 1

Cellular Development, Cellular Growth and Proliferation, Reproductive System Development and Function reinitiation of proliferation of breast cell lines 9,91E-03 FGFR1 1

Cellular Development, Cellular Growth and Proliferation, Hair and Skin Development and Function reinitiation of proliferation of epithelial cell lines 9,91E-03 FGFR1 1

Cell Morphology reorientation of fibroblasts 9,91E-03 VASP 1

Cell-To-Cell Signaling and Interaction, Nervous System Development and Function response of dopaminergic neurons 9,91E-03 CHRNB2 1

Cellular Response to Therapeutics sensitivity of bone marrow precursor cells 9,91E-03 ABCC1 1

Tissue Morphology sensitivity of epithelial tissue 9,91E-03 ABCC1 1

Tissue Morphology sensitivity of oropharyngeal mucosa 9,91E-03 ABCC1 1

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Cell-To-Cell Signaling and Interaction, Small Molecule Biochemistry sequestration of dopamine 9,91E-03 SLC6A3 1

Tissue Morphology size of pituitary tissue 9,91E-03 SLC6A3 1

Behavior, Cell-To-Cell Signaling and Interaction social communication 9,91E-03 SHANK2 1

Cell Morphology, Cellular Development, Embryonic Development sprouting of brain cancer cell lines 9,91E-03 NTN1 1

Infectious Disease susceptibility to HIV-1 viremia 9,91E-03 HLA-C 1

Neurological Disease, Psychological Disorders susceptibility to autism type 17 9,91E-03 SHANK2 1

Dermatological Diseases and Conditions susceptibility to psoriasis 1 9,91E-03 HLA-C 1

Lipid Metabolism, Small Molecule Biochemistry synthesis of 1-alkyl-2,3-diacylglycerol 9,91E-03 SCD 1

Behavior task acquisition 9,91E-03 RARB 1

Cell Signaling, Nucleic Acid Metabolism, Small Molecule Biochemistry termination of production of cyclic AMP 9,91E-03 GNAS 1

Cancer transformation of mesangial cells 9,91E-03 SRC 1

Cell Morphology, Cellular Function and Maintenance, Nervous System Development and Function transmembrane potential of astrocytes 9,91E-03 SRC 1

Lipid Metabolism, Molecular Transport, Small Molecule Biochemistry transport of beta-estradiol 9,91E-03 ABCC1 1

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Drug Metabolism, Molecular Transport, Small Molecule Biochemistry transport of flutamide 9,91E-03 ABCC1 1

Cellular Function and Maintenance trapping of odontoblasts 9,91E-03 NFIC 1

Cellular Movement turning of growth cone 9,91E-03 NTN1 1

Carbohydrate Metabolism, Nucleic Acid Metabolism, Small Molecule Biochemistry utilization of UDP-galactose 9,91E-03 GALNT2 1

Infectious Disease viral entry by Machupo virus 9,91E-03 TFRC 1

Infectious Disease viral entry by mouse mammary tumor virus 9,91E-03 TFRC 1

Cell Cycle mitogenesis 9,94E-03 FGFR1, GNA12, PRKCA, PTPRN2, SRC, TGFA 6

Embryonic Development, Organ Development, Organismal Development, Renal and Urological System Development and Function, Reproductive System Development and Function, Tissue Development branching morphogenesis of metanephric bud 1,00E-02 ITGA8, PBX1, RARB 3

Cell-To-Cell Signaling and Interaction, Nervous System Development and Function neurotransmission 1,00E-02

CHRNB2, HCN2, HCRTR1, JPH3, NMUR1, PRKCA, PRX, RARB, SHANK2, SRC, WNT5A 11

Cardiovascular System Development and Function, Organismal Development development of blood vessel 1,03E-02

ALOX12, CSK, FGFR1, GSTM1, HLA-DQB1, HTATIP2, LUZP1, NTN1, PBX1, PRKCA, PROCR, RARB, RCAN1, SLC4A11, SLC9A3R2, SRC, TGFA, WNT5A, YWHAG 19

Infectious Disease HIV infection 1,03E-02ALOX12, BICD2, CHRNB2, FCGR2C, GABRP, HLA-C, LRRC8D, MYADML2, NDUFS6, NTN1, PDIA6, POLR2J, PSMA7, PTPRN2, RARB, SLC6A3, TFRC 17

Cell Death and Survival cell survival 1,03E-02

ABCC1, ALOX12, ATF1, CLDN4, COL17A1, CUX1, DUSP22, EBF3, FGFR1, GPR37, GSTM1, HMOX2, HTATIP2, IGF2BP3, MCOLN1, MTA1, NCF2, NTN1, PBX1, PCDHGA2, PRKCA, PSMA7, PTPRN2, RCAN1, SRC, TCF3, TGFA, WNT5A 28

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Cancer, Dermatological Diseases and Conditions skin tumor 1,03E-02

ALOX12, ARHGAP26, ASTN2, BAI2, CLDN4, GSTM1, GSTT1, ITGA8, MYOM2, PCDHGA2, PLEKHA7, PRKCA, RARB, SALL4, SRC, TCF3, TGFA, WNT5A, ZAN 19

Cancer, Gastrointestinal Disease colon adenocarcinoma 1,04E-02

ADAMTSL1, AGAP1, AKR1C1/AKR1C2, AMPD2, ASAP1, ATF1, B3GNT6, BAI2, BRSK2, BTBD11, BTNL3, CUX1, DDHD1, DMBT1, DNAJC6, DNAJC7, FGFR1, GABRP, GALNTL5, GGA1, GNAS, GPR37, GSTM1, HLA-C, HLA-DQA1, IGSF9B, IQGAP2, ITGA8, KDM5B, LHX4, LRRC8D, MAGI2, MARCH5, MOV10, PCDHGA2, PLEKHA7, PRKCA, PRX, PTPRN2, SALL4, SLC50A1, SLC6A3, SRC, TBL1XR1, TFRC, TUT1, VEPH1, VIPR2, WSCD2, ZAN, ZNF506, ZNF707 52

Cell Morphology abnormal morphology of cells 1,06E-02

AATK, AMPD2, ATP4B, BRSK2, CHTF18, CUL4A, FGFR1, HLA-DQA1, HLA-DQB1, IQGAP2, ITGA8, ITPR3, LHX4, MAGI2, MCOLN1, NDUFS6, PBX1, PRX, RARB, RCAN1, RPS6KA2, SPIB, ST8SIA2, TCF3, TFRC, TGFA, WNT5A 27

Embryonic Development, Organismal Development, Tissue Development development of craniofacial tissue 1,06E-02 FGFR1, PBX1, VASP 3

Auditory and Vestibular System Development and Function, Connective Tissue Development and Function, Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development abnormal morphology of incus 1,07E-02 FGFR1, RARB 2

Connective Tissue Development and Function, Organ Morphology, Respiratory System Development and Function, Skeletal and Muscular System Development and Function, Tissue Morphology abnormal morphology of tracheal ring 1,07E-02 ANO1, RARB 2

Cell-To-Cell Signaling and Interaction, Tissue Development dissociation of cells 1,07E-02 NFIC, SRC 2

Organ Morphology, Renal and Urological System Development and Function quantity of nephron 1,07E-02 PBX1, RARB 2

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Developmental Disorder, Organismal Injury and Abnormalities, Renal and Urological Disease renal adysplasia 1,07E-02 ITGA8, SALL4 2

Organismal Injury and Abnormalities, Renal and Urological Disease urinary incontinence 1,07E-02 CHRNB2, SLC6A3 2

Nervous System Development and Function, Tissue Morphology quantity of brain cells 1,08E-02 FGFR1, LHX4, NTN1, SLC6A3, ST8SIA2 5

Cancer, Gastrointestinal Disease colon carcinoma 1,11E-02

ADAMTSL1, AGAP1, AKR1C1/AKR1C2, AMPD2, ASAP1, ATF1, B3GNT6, BAI2, BRSK2, BTBD11, BTNL3, CUX1, DDHD1, DMBT1, DNAJC6, DNAJC7, FGFR1, GABRP, GALNTL5, GGA1, GNAS, GPR37, GSTM1, HLA-C, HLA-DQA1, IGSF9B, IQGAP2, ITGA8, JPH3, KDM5B, LHX4, LRRC8D, MAGI2, MARCH5, MOV10, PCDHGA2, PLEKHA7, PRKCA, PRX, PTPRN2, SALL4, SLC50A1, SLC6A3, SRC, TBL1XR1, TFRC, TUT1, VEPH1, VIPR2, WSCD2, ZAN, ZNF506, ZNF707 53

Cellular Development, Cellular Growth and Proliferation proliferation of pancreatic cancer cell lines 1,12E-02 ALPPL2, GABRP, PRKCA, SRC, TGFA 5

Cell Death and Survival cell survival of tumor cell lines 1,13E-02 CUX1, FGFR1, GSTM1 3

Embryonic Development, Organismal Development, Skeletal and Muscular System Development and Function development of hindlimb 1,13E-02 ALOX12, GNAS, RARB 3

Cancer, Gastrointestinal Disease, Tumor Morphology invasion of digestive organ tumor 1,13E-02 GNA12, TGFA, WNT5A 3

Cellular Development, Cellular Growth and Proliferation, Embryonic Development, Organismal Development proliferation of embryonic stem cells 1,13E-02 KDM5B, SALL4, SRC 3

Cellular Development, Cellular Growth and Proliferation proliferation of kidney cancer cell lines 1,13E-02 SCD, TGFA, WNT5A 3

Hereditary Disorder, Neurological Disease, Psychological Disorders Schizophrenia 1,13E-02

CHRNB2, FCGR2C, FGFR1, GABRP, GNAS, GPR37, GRIK3, GSTM1, HLA-DRB1, HTR1D, MAGI2, SLC6A3, ST8SIA2 13

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Cell Morphology, Cellular Assembly and Organization, Cellular Function and Maintenance transmembrane potential of cellular membrane 1,14E-02 AIFM3, CHRNB2, GRIK3, HCN2 4

Organismal Development, Tissue Development development of exocrine gland 1,15E-02 FGFR1, MTA1, NTN1, SLC6A3, SRC, TGFA, WNT5A 7

Cellular Development, Cellular Growth and Proliferation, Hair and Skin Development and Function proliferation of epithelial cell lines 1,15E-02 FGFR1, IQGAP2, NTN1, PBX1, SALL4, TFRC, WNT5A 7

Cell Death and Survival cell viability 1,15E-02

ABCC1, ALOX12, ATF1, CLDN4, COL17A1, CUX1, DUSP22, FGFR1, GPR37, GSTM1, HMOX2, HTATIP2, IGF2BP3, MCOLN1, MTA1, NCF2, NTN1, PBX1, PCDHGA2, PRKCA, PTPRN2, RCAN1, SRC, TCF3, TGFA, WNT5A 26

Cancer epithelial neoplasia 1,16E-02

AATK, ABCA6, ADAMTSL1, AGAP1, AKR1C1/AKR1C2, ALOX12, AMN, AMPD2, ANO1, ASAP1, ASTN2, ATF1, ATP4B, ATP9B, B3GNT6, BAI2, BICD2, BRSK2, BTBD11, BTNL3, CHMP3, CLDN4, COL17A1, CUX1, DDHD1, DENND3, DMBT1, DMRT3, DNAJC6, DNAJC7, DNALI1, EXOC7, FAM222B, FBLN2, FGFR1, FNDC3B, GABRP, GALNTL5, GGA1, GNA12, GNAS, GPR111, GPR133, GPR37, GPR85, GSTM1, GSTT1, HLA-C, HLA-DQA1, HLA-DRB1, HTATIP2, IGSF9B, IQGAP2, ITGA8, ITPR3, JPH3, KDM5B, KIAA1804, LHX4, LRRC8D, MAD1L1, MAGI2, MARCH5, MCOLN1, MOV10, MTA1, MYADML2, MYOM2, NSUN5P2, OR10X1, PBX1, PCDHA6, PCDHGA2, PLEKHA7, POTEM (includes others), PRKCA, PRX, PTPRN2, RARB, RIMBP2, RPS6KA2, SALL4, SCD, SHANK2, SLC4A11, SLC50A1, SLC6A3, SRC, TBL1XR1, TFRC, TGFA, TMCO5A, TRIM9, TUT1, UPK3B, VEPH1, VIPR2, WNT5A, WSCD2, YBEY, YWHAG, ZAN, ZDHHC14, ZFYVE28, ZMAT2, ZNF506, ZNF707 107

Developmental Disorder Growth Failure 1,17E-02ALPPL2, CHRNB2, FGFR1, GNAS, HLA-DQB1, ITPR3, MCOLN1, PROCR, RARB, RBMS1, SLC6A3, SRC, TCF3, TFRC, TGFA 15

Cancer, Hematological Disease myeloproliferative disorder 1,17E-02 ABCC1, ARHGAP26, ATP4B, CUX1, FGFR1, GSTM1, GSTT1, RARB, SRC 9

Cellular Assembly and Organization quantity of filaments 1,19E-02 AGAP1, CSK, GNAS, SLC9A3R2, SRC 5

Behavior exploratory behavior 1,19E-02 CHRNB2, JPH3, SLC6A3, ST8SIA2 4

Cancer cell transformation 1,19E-02CSK, FGFR1, GNA12, HBP1, HTATIP2, MCF2L, MTA1, PBX1, SRC, TGFA, WNT5A, YAF2 12

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Lymphoid Tissue Structure and Development abnormal morphology of B-cell follicle 1,20E-02 HLA-DQB1, PBX1, SPIB 3

Organismal Injury and Abnormalities atresia 1,20E-02 ATP4B, SALL4, WNT5A 3

Cellular Movement invasion of squamous cell carcinoma cell lines 1,20E-02 GALNT2, SRC, TGFA 3

Cancer tumorigenesis of melanoma 1,20E-02 DIP2C, FNDC3B, GSTM1 3

Cell-To-Cell Signaling and Interaction, Cellular Assembly and Organization, Cellular Function and Maintenance, Tissue Development assembly of intercellular junctions 1,20E-02 CHRNB2, CLDN4, IGSF9B, PRKCA, SRC, WNT5A, YWHAG 7

Lipid Metabolism, Small Molecule Biochemistry synthesis of eicosanoid 1,20E-02 ABCC1, ALOX12, HMOX2, NTN1, PRKCA, RARB, TGFA 7

Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Tissue Development, Visual System Development and Function abnormal morphology of iris 1,21E-02 RARB, TGFA 2

Cell-To-Cell Signaling and Interaction, Nervous System Development and Function posttetanic potentiation 1,21E-02 GRIK3, PRKCA 2

Cancer tumorigenesis of epithelial cells 1,21E-02 FGFR1, TCF3 2

Protein Synthesis metabolism of peptide 1,21E-02 FMO2, GALNT2, GSTM1, PRKCA, RPS6KA2, SRC 6

Embryonic Development, Nervous System Development and Function, Organ Development, Organismal Development, Tissue Development development of forebrain 1,23E-02 CHRNB2, EBF3, NTN1, RARB, RFX4, SRC, ST8SIA2 7

Neurological Disease Movement Disorders 1,23E-02

ADAMTSL1, BRSK2, CHRNB2, DNAJC6, FBL, GABRP, GNAS, HBP1, HCN2, HCRTR1, HMOX2, HTR1D, MCOLN1, MT1L, MYOM2, MYT1L, PRX, RARB, RCAN1, RFX4, SCD, SLC6A3, ST8SIA2 23

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Cellular Development, Connective Tissue Development and Function, Skeletal and Muscular System Development and Function, Tissue Development differentiation of chondrocytes 1,23E-02 FGFR1, PRKCA, RARB, WNT5A 4

Psychological Disorders generalized anxiety disorder 1,26E-02 GABRP, HTR1D, SLC6A3 3

Cancer, Gastrointestinal Disease, Hepatic System Disease incidence of hepatocellular carcinoma 1,26E-02 HTATIP2, IQGAP2, MAD1L1 3

Cancer Hematologic Cancer and Tumors 1,27E-02

ABCC1, ALOX12, ARHGAP26, CLDN14, COL17A1, CUX1, FCGR2C, FGFR1, GNAS, GSTM1, GSTT1, MAGI2, PBX1, PDIA6, PRKCA, RARB, RPL28, SHANK2, SLC6A3, SRC, TCF3 21

Cellular Movement, Hair and Skin Development and Function cell movement of keratinocytes 1,33E-02 COL17A1, MTA1, SRC, TGFA 4

Organismal Survival viability 1,33E-02 EBF3, FBL, NFIC, RARB 4

Connective Tissue Development and Function, Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development abnormal morphology of skull 1,33E-02 FGFR1, NFIC, PBX1, RARB, SALL4, SRC, WNT5A 7

Embryonic Development, Tissue Morphology abnormal morphology of second branchial arch 1,35E-02 FGFR1, PBX1 2

Connective Tissue Development and Function, Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development abnormal morphology of squamosal bone 1,35E-02 FGFR1, RARB 2

Connective Tissue Disorders, Developmental Disorder, Gastrointestinal Disease, Skeletal

cleft lip 1,35E-02 FGFR1, PBX1 2

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and Muscular Disorders

Developmental Disorder hypoplasia of exocrine gland 1,35E-02 PBX1, SCD 2

Embryonic Development, Tissue Development proliferation of embryoblast 1,35E-02 DMBT1, SALL4 2

Cancer, Organismal Injury and Abnormalities, Reproductive System Disease tumorigenesis of breast carcinoma 1,35E-02 MTA1, SRC 2

Cancer growth of tumor 1,35E-02ABCC1, CLDN4, CUL4A, CUX1, FGFR1, GALNT2, MTA1, PRKCA, PROCR, RARB, RCAN1, SLC9A3R2, SPIB, SRC, TGFA, TRIM35, WNT5A 17

Gene Expression transcription 1,37E-02

ATF1, CUL4A, CUX1, DEAF1, DUSP22, EBF3, FGFR1, FHOD1, GNA12, HTATIP2, KDM5B, MAD1L1, MAGI2, MCF2L, MTA1, MYADML2, MYT1L, NFIC, PBX1, POLR2J, PRKCA, RARB, RCAN1, RFX4, SALL4, SPIB, SRC, TBL1XR1, TCF3, TGFA, VASP, WNT5A, XCL1, YAF2 34

Psychological Disorders Psychosis 1,38E-02 CHRNB2, GABRP, HTR1D, SLC6A3 4

Cell Death and Survival cell viability of carcinoma cell lines 1,38E-02 ABCC1, HTATIP2, SRC, TGFA 4

Lipid Metabolism, Molecular Transport, Small Molecule Biochemistry release of arachidonic acid 1,38E-02 GNA12, PRKCA, SRC, TGFA 4

Hereditary Disorder, Neurological Disease, Psychological Disorders schizoaffective disorder 1,38E-02 CHRNB2, GABRP, HTR1D, SLC6A3 4

Behavior anxiety 1,39E-02 CHRNB2, CSK, PTPRN2, RCAN1, SHANK2, SLC6A3 6

Connective Tissue Disorders, Skeletal and Muscular Disorders arthropathy 1,40E-02

ABCC1, ATP4B, COL6A1, DIP2C, FGFR1, GABRP, GALNT2, GSTT1, HLA-C, HLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-DRB5, ITPR3, PTPRN2, SLC6A3, SRC, TFRC, VIPR2, WNT5A, XCL1 21

Hereditary Disorder, Neurological Disease, Psychological Disorders schizophreniform psychosis 1,41E-02 CHRNB2, GABRP, HTR1D 3

Cell-To-Cell Signaling and Interaction, Cellular Assembly and Organization, Cellular Function and Maintenance,

formation of focal adhesions 1,44E-02 CSK, GNA12, PRKCA, SRC, WNT5A 5

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Tissue Development

Cell Death and Survival apoptosis 1,47E-02

AATK, ABCC1, AIFM3, ALOX12, ATF1, CCAR2, CHTF18, CSK, CUL4A, CUX1, DEPTOR, DUSP22, FBL, FGFR1, GNA12, GNAS, HCRTR1, HTATIP2, IQGAP2, ISM1, ITPR3, LHX4, MAD1L1, MCF2L, MCOLN1, NCF2, NFIC, NTN1, PCDHGA2, PRKCA, PROCR, RARB, RCAN1, RPS6KA2, SCD, SPIB, SRC, ST8SIA2, TBL1XR1, TCF3, TFRC, TGFA, TRIM35, VASP, VIPR2, WNT5A, XCL1 47

Nervous System Development and Function morphology of nervous system 1,47E-02

AATK, BRSK2, CHRNB2, DMRT3, FGFR1, GNAS, GPR37, LHX4, MAGI2, MCOLN1, NTN1, PRX, RARB, SALL4, SLC6A3, ST8SIA2, TGFA, WNT5A 18

Cellular Growth and Proliferation, Connective Tissue Development and Function, Tissue Development colony formation of fibroblast cell lines 1,48E-02 ATF1, MCF2L, PRKCA, SRC 4

Cell Death and Survival necrosis of epithelial tissue 1,48E-02ABCC1, AIFM3, FGFR1, GPR37, IQGAP2, ISM1, NTN1, PRKCA, PROCR, SCD, SRC, TCF3, TFRC, TGFA 14

Organismal Injury and Abnormalities fatigue 1,48E-02 GABRP, RCAN1, SLC6A3 3

Cellular Movement cell movement 1,49E-02

ABCC1, ALOX12, ASAP1, CLDN4, COL17A1, CSK, CUL4A, CUX1, DEPTOR, DMBT1, EBF3, FBLN2, FGFR1, FHOD1, FNDC3B, GALNT2, GNA12, GNAS, HTATIP2, ITGA8, KIAA0319, MAGI2, MCF2L, MTA1, NFIC, NTN1, PRKCA, PROCR, RCAN1, SLC9A3R2, SRC, ST8SIA2, TCF3, TGFA, VASP, VIPR2, WNT5A, XCL1 38

Connective Tissue Development and Function, Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development abnormal morphology of carpal bone 1,50E-02 FGFR1, SALL4 2

Cell Morphology, Digestive System Development and Function, Organ Morphology, Organismal Development, Tissue Morphology abnormal morphology of gastric parietal cells 1,50E-02 ATP4B, MCOLN1 2

Cell Morphology morphology of cervical cancer cell lines 1,50E-02 CSK, VASP 2

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Cell Morphology shape change of brain cancer cell lines 1,50E-02 GNA12, NTN1 2

Protein Synthesis modification of peptide 1,53E-02 GALNT2, PRKCA, RPS6KA2, SRC 4

Cellular Assembly and Organization formation of plasma membrane 1,55E-02 CHRNB2, CLDN4, GNA12, IGSF9B, PRKCA, WNT5A, YWHAG 7

Cancer neoplasia of cells 1,56E-02FGFR1, GNAS, HTATIP2, MAD1L1, NTN1, PROCR, TCF3, TGFA, TRIM35, WNT5A 10

Cell Morphology, Organ Morphology, Tissue Morphology morphology of glandular epithelial cells 1,56E-02 ATP4B, MCOLN1, TGFA 3

Cell-To-Cell Signaling and Interaction activation of connective tissue cells 1,57E-02 CSK, FGFR1, SRC, TGFA, WNT5A 5

Cell-To-Cell Signaling and Interaction response of tumor cell lines 1,57E-02 CSK, FGFR1, GNA12, GSTT1, WNT5A 5

Cellular Growth and Proliferation cytostasis 1,60E-02 ABCC1, FGFR1, HBP1, MAD1L1, MTA1, PRKCA, RARB, SRC 8

Cardiovascular System Development and Function, Cell-To-Cell Signaling and Interaction, Tissue Development adhesion of endothelial cells 1,61E-02 DEPTOR, PRKCA, PROCR, RCAN1, VASP 5

Connective Tissue Disorders, Immunological Disease, Inflammatory Disease, Skeletal and Muscular Disorders rheumatoid arthritis 1,62E-02

ATP4B, DIP2C, GABRP, GALNT2, HLA-C, HLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-DRB5, ITPR3, PTPRN2, SRC, TFRC, VIPR2, WNT5A, XCL1 16

Neurological Disease, Psychological Disorders major depression 1,63E-02 DIP2C, FGFR1, GABRP, HTR1D, RCAN1, SLC6A3 6

Cancer, Gastrointestinal Disease metastatic colorectal cancer 1,63E-02 AKR1C1/AKR1C2, CLDN4, FGFR1, GSTT1, ITPR3, TRIM9 6

Molecular Transport, Small Molecule Biochemistry release of catecholamine 1,64E-02 CHRNB2, PRKCA, SLC6A3, SRC 4

Cell-To-Cell Signaling and Interaction, Renal and Urological System Development and Function binding of kidney cell lines 1,64E-02 GNAS, SLC6A3, SRC 3

Cancer, Gastrointestinal Disease development of digestive organ tumor 1,64E-02 IQGAP2, PRKCA, SRC 3

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Infectious Disease infectivity of virus 1,64E-02 APOBEC3G, DMBT1, MOV10 3

Lipid Metabolism, Molecular Transport, Small Molecule Biochemistry release of eicosanoid 1,65E-02 ABCC1, GNA12, PRKCA, SRC, TGFA 5

Drug Metabolism conjugation of glutathione 1,65E-02 GSTM1, GSTT1 2

Digestive System Development and Function, Organismal Development lack of incisor 1,65E-02 NFIC, SRC 2

Cardiovascular System Development and Function, Organismal Development vasculogenesis 1,69E-02

ALOX12, FGFR1, GSTM1, HLA-DQB1, LUZP1, NTN1, PBX1, PRKCA, PROCR, RARB, RCAN1, SLC4A11, SLC9A3R2, SRC, TGFA, WNT5A, YWHAG 17

Lipid Metabolism, Small Molecule Biochemistry synthesis of glycosphingolipid 1,70E-02 ABCC1, CUX1, SCD, ST8SIA2 4

Cell Death and Survival, Nervous System Development and Function cell viability of neurons 1,71E-02 HMOX2, NTN1, PCDHGA2, PRKCA, RCAN1, SRC, TGFA 7

Embryonic Development, Tissue Morphology abnormal morphology of neural tube 1,72E-02 CSK, FGFR1, TFRC 3

Cardiovascular System Development and Function, Embryonic Development, Organ Development, Organismal Development, Tissue Development development of ventricular septum 1,72E-02 LUZP1, SALL4, WNT5A 3

Digestive System Development and Function abnormal morphology of digestive system 1,75E-02

ATP4B, FGFR1, HMOX2, IQGAP2, MCOLN1, NFIC, PBX1, RARB, SALL4, SPIB, SRC, TGFA, WNT5A 13

Gene Expression transcription of RNA 1,77E-02

ATF1, CUL4A, CUX1, DEAF1, DUSP22, EBF3, FGFR1, FHOD1, GNA12, HTATIP2, KDM5B, MAD1L1, MAGI2, MCF2L, MTA1, MYT1L, NFIC, PBX1, POLR2J, PRKCA, RARB, RCAN1, RFX4, SALL4, SPIB, SRC, TBL1XR1, TCF3, TGFA, VASP, WNT5A, XCL1, YAF2 33

Cell Death and Survival cell death of epithelial cells 1,77E-02ABCC1, AIFM3, FGFR1, GPR37, IQGAP2, NTN1, PRKCA, SCD, SRC, TCF3, TFRC, TGFA 12

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Developmental Disorder, Hereditary Disorder, Skeletal and Muscular Disorders Duchenne muscular dystrophy 1,81E-02 HLA-C, HLA-DQB1, HLA-DRB1 3

Embryonic Development, Organ Development, Organismal Development, Tissue Development formation of brain 1,81E-02 EBF3, RFX4, ST8SIA2 3

Dermatological Diseases and Conditions, Immunological Disease, Inflammatory Disease lichen planus 1,81E-02 ABCC1, HLA-C, HLA-DQB1, HLA-DRB1 4

Digestive System Development and Function, Organ Morphology, Organismal Development, Tissue Morphology abnormal morphology of gastric mucosa 1,81E-02 ATP4B, MCOLN1 2

Auditory and Vestibular System Development and Function, Connective Tissue Development and Function, Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development abnormal morphology of malleus 1,81E-02 FGFR1, PBX1 2

Cell-To-Cell Signaling and Interaction, Skeletal and Muscular System Development and Function, Tissue Development fusion of muscle cell lines 1,81E-02 ARHGAP26, SRC 2

Cancer, Cellular Development, Cellular Growth and Proliferation, Tissue Morphology, Tumor Morphology quantity of cancer cells 1,81E-02 RARB, SPIB 2

Behavior stereotypy 1,81E-02 SHANK2, SLC6A3 2

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Cell-To-Cell Signaling and Interaction, Drug Metabolism, Small Molecule Biochemistry synthesis of dopamine 1,81E-02 GPR37, SLC6A3 2

Cancer, Respiratory Disease tumorigenesis of lung carcinoma 1,81E-02 GSTM1, SRC 2

Lipid Metabolism, Small Molecule Biochemistry fatty acid metabolism 1,88E-02

ABCC1, ACSF3, AKR1C1/AKR1C2, ALOX12, CUX1, HMOX2, NTN1, PRKCA, RARB, SCD, SLC9A3R2, ST8SIA2, TGFA 13

Skeletal and Muscular System Development and Function fusion of rib 1,90E-02 DEAF1, FGFR1, WNT5A 3

Cell Signaling, Small Molecule Biochemistry, Vitamin and Mineral Metabolism oscillation of Ca2+ 1,90E-02 GNAS, ITPR3, PRKCA 3

Cell Signaling, Post-Translational Modification tyrosine phosphorylation of protein 1,97E-02 CSK, FGFR1, GALNT2, PRKCA, SPIB, SRC 6

Developmental Disorder, Hereditary Disorder, Organismal Injury and Abnormalities, Reproductive System Disease 46,XY sex reversal type 8 1,97E-02 AKR1C1/AKR1C2 1

Endocrine System Disorders, Metabolic Disease

Cushing's syndrome due to adrenocorticotropin-independent bilateral macronodular adrenal hyperplasia 1,97E-02 GNAS 1

Hereditary Disorder, Skeletal and Muscular Disorders Jackson-Weiss syndrome 1,97E-02 FGFR1 1

Connective Tissue Disorders, Developmental Disorder, Endocrine System Disorders, Skeletal and Muscular Disorders McCune-Albright syndrome 1,97E-02 GNAS 1

Connective Tissue Disorders, Developmental Disorder, Hereditary Disorder, Skeletal and Muscular Disorders Pfeiffer syndrome 1,97E-02 FGFR1 1

Nervous System Development and abnormal morphology of abducens nerve 1,97E-02 LHX4 1

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Function

Embryonic Development, Tissue Morphology abnormal morphology of gonad rudiment 1,97E-02 PBX1 1

Organ Morphology, Organismal Development abnormal morphology of meibomian gland 1,97E-02 TGFA 1

Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Respiratory System Development and Function, Tissue Development abnormal morphology of primary bronchus 1,97E-02 RARB 1

Respiratory Disease abnormal vital capacity 1,97E-02 HMOX2 1

Carbohydrate Metabolism, Lipid Metabolism, Small Molecule Biochemistry acylation of lysophosphatidylcholine 1,97E-02 LPCAT1 1

Immunological Disease, Organismal Injury and Abnormalities, Reproductive System Disease adenosis of mammary lesion 1,97E-02 TGFA 1

Cardiovascular System Development and Function, Cell-To-Cell Signaling and Interaction, Tissue Development adhesion of cerebral endothelial cells 1,97E-02 PROCR 1

Cardiovascular System Development and Function adhesion of microvasculature 1,97E-02 VASP 1

Cardiovascular System Development and Function, Connective Tissue Development and Function, Tissue Development adhesion of subendothelium 1,97E-02 VASP 1

Cell-To-Cell Signaling and Interaction, Hematological System Development and Function, Immune Cell Trafficking, Inflammatory Response,

aggregation of microglia 1,97E-02 VASP 1

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Tissue Development

Cell-To-Cell Signaling and Interaction, Tissue Development aggregation of myoepithelial cells 1,97E-02 NTN1 1

Cardiovascular System Development and Function, Embryonic Development, Organ Development, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development angiogenesis of adductor muscle 1,97E-02 ALOX12 1

Cell Cycle, Reproductive System Development and Function arrest in G2/M phase of breast cell lines 1,97E-02 KDM5B 1

Cellular Development, Cellular Growth and Proliferation arrest in growth of embryonic cancer cell lines 1,97E-02 RARB 1

Cell Cycle, Embryonic Development arrest in metaphase of embryonic cell lines 1,97E-02 RPS6KA2 1

Cell Cycle arrest in metaphase of epithelial cell lines 1,97E-02 RPS6KA2 1

Cell Cycle arrest in metaphase of kidney cell lines 1,97E-02 RPS6KA2 1

Cell Cycle, Connective Tissue Development and Function arrest in mid S phase of fibroblast cell lines 1,97E-02 SRC 1

Behavior, Neurological Disease behavioral arrest 1,97E-02 HCRTR1 1

Gene Expression binding of acute phase response element 1,97E-02 TGFA 1

Cell-To-Cell Signaling and Interaction, Endocrine System Development and Function binding of anterior pituitary cells 1,97E-02 TGFA 1

Lipid Metabolism, Small Molecule Biochemistry binding of ganglioside GM1 1,97E-02 FGFR1 1

© 2000-2014 QIAGEN. All rights reserved.

Complete list of diseases and functions for trait-like genes

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Table S5. Top diseases and functions of state-like genes.

Categories Diseases or Functions Annotation p-Value Molecules # Molecules

Connective Tissue Development and Function, Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development abnormal morphology of jaw 5,31E-05 EGFR, FAM20C, PKDCC, TP63 4

Organismal Development lack of eyelid 6,34E-05 EGFR, TP63 2

Cellular Growth and Proliferationcolony formation of squamous cell carcinoma cell lines 8,86E-05 EGFR, TP63 2

Connective Tissue Development and Function, Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development abnormal morphology of maxilla 9,14E-05 FAM20C, PKDCC, TP63 3

Connective Tissue Development and Function, Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development abnormal morphology of skull 1,74E-04 DDR2, EGFR, FAM20C, PKDCC, TP63 5

Digestive System Development and Function, Organ Morphologyabnormal morphology of oesophageal epithelium 1,89E-04 EGFR, TP63 2

Cancer, Organismal Injury and Abnormalities, Reproductive System Diseasemalignant neoplasm of male genital organ 3,25E-04

AMACR, CLDN11, EGFR, FAM20C, GNA12, KDM1A, PTPRN2, TP63 8

Developmental Disorder, Gastrointestinal Disease congenital anomaly of mouth 3,30E-04 CNNM4, EGFR, FAM20C, TP63 4

Endocrine System Development and Function, Small Molecule Biochemistry synthesis of hormone 4,26E-04 BRD2, CACNA1A, EGFR, KDM1A 4

Amino Acid Metabolism, Lipid Metabolism, Molecular Transport, Small Molecule Biochemistry secretion of GABA 4,38E-04 CACNA1A, PTPRN2 2

Connective Tissue Development and Function, Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development abnormal morphology of mandible 4,73E-04 EGFR, FAM20C, TP63 3

Connective Tissue Development and Function, Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development, Tissue

abnormal morphology of epiphyseal growth plate

6,19E-04 DDR2, FAM20C, PKDCC 3

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Morphology

Hair and Skin Development and Function, Organ Morphology abnormal morphology of hair shaft 6,36E-04 EGFR, TP63 2

Cell Morphologyshape change of brain cancer cell lines 7,10E-04 EGFR, GNA12 2

Digestive System Development and Function, Organ Morphology, Organismal Development

abnormal morphology of salivary gland 7,88E-04 EGFR, FAM20C 2

Respiratory System Development and Function response of airway 7,88E-04 ADORA3, EGFR 2

Cancer, Gastrointestinal Disease advanced rectal cancer 9,55E-04 DDR2, EGFR 2

Organ Morphologyabnormal morphology of granular layer of epidermis 1,04E-03 EGFR, TP63 2

Respiratory System Development and Function morphology of airway 1,04E-03 EGFR, TP63 2

Cancer, Organismal Injury and Abnormalities, Reproductive System Disease prostate cancer 1,05E-03AMACR, CLDN11, EGFR, GNA12, KDM1A, PTPRN2, TP63 7

Neurological Disease, Psychological Disorders Sleep Disorders 1,08E-03 ADORA3, CACNA1A, HLA-DQB1 3

Cellular Development, Cellular Growth and Proliferation, Hepatic System Development and Function proliferation of liver cell lines 1,24E-03 DDR2, EGFR 2

Digestive System Development and Function, Organ Morphology, Organismal Development abnormal morphology of intestine 1,40E-03 EGFR, ENPP7, PKDCC,T P63 4

Organismal Developmentabnormal morphology of distended abdomen 1,44E-03 FAM20C, TP63 2

Developmental Disorder, Skeletal and Muscular Disorderscongenital anomaly of musculoskeletal system 1,48E-03

DDR2, DNAJB6, EGFR, FAM20C, HLA-DQB1, mir-548, TP63 7

Cellular Movement scattering of tumor cell lines 1,66E-03 EGFR, TP63 2

Respiratory System Development and Function morphology of respiratory tract 1,77E-03 DDR2, EGFR, TP63 3

Cancer, Organismal Injury and Abnormalities, Reproductive System Disease metastatic breast carcinoma 1,78E-03 DNAJB6, EGFR 2

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Cellular Assembly and Organization, Cellular Function and Maintenance, Tissue Development formation of actin stress fibers 1,87E-03 EGFR, GNA12, MCF2L, TP63 4

Cellular Movement migration of breast cancer cell lines 1,89E-03 DDR2, DNAJB6, EGFR, MCF2L 4

Cell Morphology, Embryonic Development, Nervous System Development and Function, Organ Morphology, Organismal Development, Tissue Morphology

abnormal morphology of granule cell precursors 1,90E-03 CACNA1A, EGFR 2

Cellular Development, Cellular Growth and Proliferationproliferation of keratinocyte cancer cell lines 1,90E-03 EGFR, TP63 2

Cellular Development, Cellular Growth and Proliferation arrest in growth of tumor cell lines 2,00E-03 AMACR, EGFR, TP63 3

Developmental Disorder, Hereditary Disorder Cohen syndrome 2,09E-03 VPS13B 1

Cell Cycle, DNA Replication, Recombination, and RepairDNA damage checkpoint of breast cell lines 2,09E-03 TP63 1

Cell Cycle, DNA Replication, Recombination, and RepairDNA damage checkpoint of epithelial cell lines 2,09E-03 TP63 1

Dermatological Diseases and Conditions, Developmental Disorder, Hereditary Disorder, Organismal Injury and Abnormalities, Skeletal and Muscular Disorders

Hay-Wells syndrome of ectodermal dysplasia 2,09E-03 TP63 1

Connective Tissue Disorders, Dental Disease, Developmental Disorder, Gastrointestinal Disease, Hereditary Disorder, Ophthalmic Disease, Organismal Injury and Abnormalities, Skeletal and Muscular Disorders Jalili syndrome 2,09E-03 CNNM4 1

Cancer, Gastrointestinal DiseaseKRAS mutation negative EGFR positive metastatic colorectal cancer 2,09E-03 EGFR 1

Cancer, Gastrointestinal DiseaseKRAS mutation negative and NRAS mutation negative rectal cancer 2,09E-03 EGFR 1

Connective Tissue Disorders, Developmental Disorder, Neurological Disease, Organismal Injury and Abnormalities, Skeletal and Muscular Disorders Raine syndrome 2,09E-03 FAM20C 1

Dermatological Diseases and Conditions, Developmental Disorder, Hereditary Disorder, Organismal Injury and Abnormalities Rapp-Hodgkin syndrome 2,09E-03 TP63 1

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Organ Morphology, Organismal Development, Reproductive System Development and Function, Tissue Morphology

abnormal morphology of cervical epithelium 2,09E-03 TP63 1

Digestive System Development and Function, Organismal Development, Tissue Morphology

abnormal morphology of dental pulp chamber 2,09E-03 FAM20C 1

Tissue Morphologyabnormal morphology of transitional epithelium 2,09E-03 TP63 1

Developmental Disorder, Hereditary Disorderacro-dermato-ungual-lacrimal-tooth syndrome 2,09E-03 TP63 1

Cardiovascular System Development and Function, Cell-To-Cell Signaling and Interaction, Hepatic System Development and Function

activation of sinusoidal endothelial cells 2,09E-03 EGFR 1

Cell-To-Cell Signaling and Interaction, Cellular Compromise, Tissue Development, Tumor Morphology

adhesion of squamous carcinoma cells 2,09E-03 EGFR 1

Developmental Disorder, Hereditary Disorder, Metabolic Diseasealpha-methylacyl-CoA racemase deficiency 2,09E-03 AMACR 1

Cell Death and Survival anoikis of keratinocytes 2,09E-03 EGFR 1

Cell Death and Survival apoptosis of epithelial stem cells 2,09E-03 TP63 1

Cell Death and Survival, Respiratory Disease apoptosis of pleural cells 2,09E-03 EGFR 1

Embryonic Development, Tissue Morphology area of cartilage primordium 2,09E-03 EGFR 1

Hereditary Disorder, Neurological Diseaseautosomal dominant spastic paraplegia type 12 2,09E-03 RTN2 1

Cellular Assembly and Organization, Skeletal and Muscular System Development and Function binding of sarcoplasmic reticulum 2,09E-03 CACNA1A 1

Developmental Disorder, Gastrointestinal Disease, Hepatic System Disease, Hereditary Disorder, Metabolic Disease

congenital bile acid synthesis defect type 4 2,09E-03 AMACR 1

Cell Cycle, Cell-To-Cell Signaling and Interaction, Cellular Growth and Proliferation, Cellular Movement, Hematological System Development and Function

contact growth inhibition of B-lymphocyte derived cell lines 2,09E-03 EGFR 1

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Lipid Metabolism, Nucleic Acid Metabolism, Small Molecule Biochemistryconversion of (2R,6)-dimethylheptanoyl-coenzyme A 2,09E-03 AMACR 1

Embryonic Development, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development

delay in ossification of cartilage primordium 2,09E-03 EGFR 1

Cell-To-Cell Signaling and Interaction, Cellular Movement, Connective Tissue Development and Function, Skeletal and Muscular System Development and Function delay in recruitment of osteoblasts 2,09E-03 EGFR 1

Cell-To-Cell Signaling and Interaction, Cellular Movement, Connective Tissue Development and Function, Skeletal and Muscular System Development and Function delay in recruitment of osteoclasts 2,09E-03 EGFR 1

Tissue Morphology density of glial progenitor cells 2,09E-03 EGFR 1

Cellular Development, Embryonic Development, Endocrine System Development and Function, Nervous System Development and Function, Organ Development, Organismal Development, Reproductive System Development and Function, Tissue Development development of lactotropes 2,09E-03 EGFR 1

Embryonic Development, Nervous System Development and Function, Organ Development, Organismal Development, Tissue Development

development of molecular layer of cerebellum 2,09E-03 CACNA1A 1

Cellular Development, Tissue Developmentdifferentiation of columnar epithelium 2,09E-03 TP63 1

Cell Morphology, Cellular Function and Maintenance, DNA Replication, Recombination, and Repair

double-stranded DNA break repair of bronchial epithelial cells 2,09E-03 EGFR 1

Connective Tissue Disorders, Dermatological Diseases and Conditions, Developmental Disorder, Gastrointestinal Disease, Hereditary Disorder, Skeletal and Muscular Disorders

ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 3 2,09E-03 TP63 1

Cancer, Cell Cycleentry into cell cycle progression of fibrosarcoma cells 2,09E-03 DDR2 1

Cancer, Cell Cycleentry into cell cycle progression of melanoma cells 2,09E-03 DDR2 1

Hereditary Disorder, Neurological Disease episodic ataxia type 2 and epilepsy 2,09E-03 CACNA1A 1

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Cancer, Gastrointestinal Disease esophageal carcinosarcoma 2,09E-03 EGFR 1

Hereditary Disorder, Neurological Disease, Organismal Injury and Abnormalitiesfamilial hemiplegic migraine type 1 with progressive cerebellar ataxia 2,09E-03 CACNA1A 1

Cellular Growth and Proliferation, Hematological System Development and Function

formation of gamma-delta T lymphocytes 2,09E-03 TP63 1

Cancer giant-cell carcinoma 2,09E-03 EGFR 1

Developmental Disorder, Organismal Injury and Abnormalities, Reproductive System Disease hypoplasia of clitoris 2,09E-03 TP63 1

Cardiovascular Disease, Ophthalmic Disease hypotension of eye 2,09E-03 ADORA3 1

Inflammatory Disease, Inflammatory Response, Organismal Injury and Abnormalities, Reproductive System Disease inflammation of cervix 2,09E-03 TP63 1

Embryonic Development interaction of ectoderm 2,09E-03 TP63 1

Cell-To-Cell Signaling and Interactioninterferon gamma response of lymph node cells 2,09E-03 HLA-DQB1 1

Cancer, Cellular Movement, Gastrointestinal Disease, Tumor Morphologyinvasion of nasopharyngeal carcinoma cells 2,09E-03 GNA12 1

Organ Morphology lack of epidermis 2,09E-03 TP63 1

Organ Morphology lack of sebaceous glands 2,09E-03 TP63 1

Tissue Morphology lack of squamous epithelium 2,09E-03 TP63 1

Organ Morphology lack of stratum spinosum 2,09E-03 TP63 1

Auditory and Vestibular System Development and Function, Cell Morphology, Organ Morphology, Tissue Morphology lack of strial basal cell tight junction 2,09E-03 CLDN11 1

Digestive System Development and Function, Organismal Development lack of tooth bud 2,09E-03 TP63 1

Hereditary Disorder limb mammary syndrome 2,09E-03 TP63 1

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Cancer, Respiratory Disease lung sarcomatoid carcinoma 2,09E-03 EGFR 1

Cancer, Hematological Disease, Immunological Disease, Organismal Injury and Abnormalities

lymphomagenesis of diffuse large B-cell lymphoma 2,09E-03 BRD2 1

Cancer, Respiratory Diseasemaintenance of non small cell lung adenocarcinoma 2,09E-03 EGFR 1

Cancer, Gastrointestinal Diseasemetastatic KRAS mutation negative rectal cancer 2,09E-03 EGFR 1

Cancer, Gastrointestinal Diseasemetastatic esophageal squamous cell cancer 2,09E-03 EGFR 1

Cell Morphology modulation of astrocytes 2,09E-03 ADORA3 1

Embryonic Development, Organismal Development, Tissue Developmentmorphogenesis of apical ectodermal ridge 2,09E-03 TP63 1

Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Renal and Urological System Development and Function, Reproductive System Development and Function, Tissue Development morphogenesis of clitoris 2,09E-03 TP63 1

Cell Morphology, Nervous System Development and Function, Tissue Morphology

morphology of neuronal progenitor cells 2,09E-03 EGFR 1

Cancer, Cell Morphology, Tumor Morphologymorphology of squamous carcinoma cells 2,09E-03 EGFR 1

Cancer, Endocrine System Disorders, Neurological Disease, Organismal Injury and Abnormalities, Reproductive System Disease pituitary carcinoma 2,09E-03 EGFR 1

Hair and Skin Development and Function, Organ Development presence of hair follicle 2,09E-03 TP63 1

Digestive System Development and Function presence of tooth 2,09E-03 TP63 1

Cellular Function and Maintenance, Cellular Growth and Proliferation production of cardiomyocytes 2,09E-03 TP63 1

Cellular Function and Maintenance, Cellular Growth and Proliferation production of synovial fibroblasts 2,09E-03 EGFR 1

Tissue Development proliferation of intestinal mucosa 2,09E-03 EGFR 1

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Cancer, Cellular Development, Cellular Growth and Proliferation, Tissue Morphology, Tumor Morphology quantity of erythroleukemia cells 2,09E-03 TP63 1

Cancer

recurrent loco-regionally advanced squamous cell carcinoma of the head and neck 2,09E-03 EGFR 1

Cell-To-Cell Signaling and Interactionresponse of squamous cell carcinoma cell lines 2,09E-03 TP63 1

Embryonic Development, Organismal Development, Tissue Development septation of cloaca 2,09E-03 TP63 1

Behavior sighing 2,09E-03 CACNA1A 1

Hereditary Disorder, Neurological Disease spinocerebellar ataxia type 6 2,09E-03 CACNA1A 1

Connective Tissue Disorders, Developmental Disorder, Hereditary Disorder, Skeletal and Muscular Disorders

spondylometaepiphyseal dysplasia, short limb-hand type 2,09E-03 DDR2 1

Neurological Disease, Organismal Injury and Abnormalities sporadic hemiplegic migraine 2,09E-03 CACNA1A 1

Cancer, Respiratory Diseasestage IV non-small-cell lung cancer containing EGFR activating mutations 2,09E-03 EGFR 1

Cell Cyclesub-G1 phase of colon cancer cell lines 2,09E-03 EGFR 1

Cell Morphology, Endocrine System Development and Function surface area of beta islet cells 2,09E-03 EGFR 1

Cancerterminal respiratory unit type adenocarcinoma 2,09E-03 EGFR 1

Cancer, Gastrointestinal Disease, Immunological Disease, Respiratory Disease tonsillar carcinoma 2,09E-03 EGFR 1

Connective Tissue Development and Function, Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development morphology of radius 2,28E-03 PKDCC, TP63 2

Protein Synthesisquantity of alkaline phosphatase in blood 2,28E-03 AMACR, FAM20C 2

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Cellular Development, Cellular Growth and Proliferationproliferation of bladder cancer cell lines 2,42E-03 EGFR, TP63 2

Connective Tissue Disorders, Dental Disease, Developmental Disorder, Gastrointestinal Disease, Skeletal and Muscular Disorders congenital anomaly of tooth 2,56E-03 CNNM4, FAM20C 2

Connective Tissue Development and Function, Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development morphology of ulna 2,56E-03 PKDCC, TP63 2

Cell Cyclearrest in interphase of carcinoma cell lines 2,70E-03 EGFR, TP63 2

Connective Tissue Development and Function, Tissue Morphology quantity of fibroblast cell lines 2,70E-03 EGFR, GNA12 2

Connective Tissue Development and Function, Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development abnormal morphology of humerus 2,85E-03 PKDCC, TP63 2

Connective Tissue Development and Function, Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development morphology of limb bone 2,85E-03 FAM20C, PKDCC, TP63 3

Organismal Development, Skeletal and Muscular System Development and Function morphology of hindlimb 3,00E-03 PKDCC, TP63 2

Developmental Disorder dysplasia 3,13E-03 DDR2, EGFR, FAM20C, GNA12 4

Digestive System Development and Function, Organismal Development morphology of mouth 3,22E-03 EGFR, FAM20C, TP63 3

Developmental Disorder multiple congenital anomalies 3,22E-03 DDR2, EGFR, FAM20C, TP63, VPS13B 5

Embryonic Development, Endocrine System Development and Function, Organ Development, Organismal Development, Reproductive System Development and Function, Tissue Development development of pituitary gland 3,31E-03 EGFR, KDM1A 2

Cellular Development differentiation of progenitor cells 3,31E-03 EGFR, LPP 2

Cancer transformation of fibroblast cell lines 3,41E-03 EGFR, GNA12, LPP, MCF2L 4

Cellular Movement, Connective Tissue Development and Function migration of fibroblasts 3,48E-03 DDR2, GNA12, LPP 3

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Organismal Development, Skeletal and Muscular System Development and Function abnormal morphology of pelvic girdle 3,80E-03 PKDCC, TP63 2

Skeletal and Muscular System Development and Functionabnormal morphology of appendicular skeleton 3,90E-03 FAM20C, PKDCC, TP63 3

Organismal Development, Skeletal and Muscular System Development and Function

abnormal morphology of pubic symphysis 4,17E-03 TP63 1

Cell-To-Cell Signaling and Interaction, Hepatic System Development and Function activation of hepatocytes 4,17E-03 EGFR 1

Cancer, Gastrointestinal Disease advanced colorectal cancer 4,17E-03 EGFR 1

Cell-To-Cell Signaling and Interaction, Hair and Skin Development and Function, Tissue Development aggregation of keratinocytes 4,17E-03 EGFR 1

Hair and Skin Development and Function arrangement of hair follicle 4,17E-03 EGFR 1

Cell Cycle, Embryonic Developmentarrest in G1 phase of embryonic stem cells 4,17E-03 LRWD1 1

Cell Cyclearrest in G2/M phase of carcinoma cell lines 4,17E-03 EGFR 1

Cellular Movement, Nervous System Development and Function cell overmigration of Purkinje cells 4,17E-03 GNA12 1

Cell-To-Cell Signaling and Interaction, Tissue Developmentcell-cell adhesion of cervical cancer cell lines 4,17E-03 TP63 1

Cancer, Cell-To-Cell Signaling and Interaction, Endocrine System Disorders, Inflammatory Response

cytotoxic reaction of pancreatic cancer cell lines 4,17E-03 GNA12 1

Cancer, Renal and Urological Diseasedelay in tumorigenesis of kidney cancer cell lines 4,17E-03 EGFR 1

Cancer, Neurological Disease development of oligoastrocytoma 4,17E-03 EGFR 1

Cancer, Neurological Disease development of oligodendroglioma 4,17E-03 EGFR 1

Embryonic Development, Nervous System Development and Function, Organ Development, Organismal Development, Tissue Development development of vestibular nucleus 4,17E-03 CACNA1A 1

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Cellular Development, Tissue Development differentiation of basal cells 4,17E-03 TP63 1

Cellular Development, Tissue Developmentdifferentiation of polarized epithelial cells 4,17E-03 TP63 1

Developmental Disorder, Neurological Disease ectopia of cerebral cortex 4,17E-03 GNA12 1

Cell Cycle, Reproductive System Development and Function entry into meiosis of oocytes 4,17E-03 EGFR 1

Cancer, Organismal Injury and Abnormalities follicular dendritic cell sarcoma 4,17E-03 EGFR 1

Cellular Assembly and Organization, DNA Replication, Recombination, and Repair formation of chromosomal radial 4,17E-03 EGFR 1

Cellular Assembly and Organization formation of punctate structures 4,17E-03 AGAP1 1

Neurological Disease, Psychological Disorders hypersomnia 4,17E-03 HLA-DQB1 1

Embryonic Development interaction of mesoderm 4,17E-03 TP63 1

Cardiovascular Disease, Organismal Injury and Abnormalities, Skeletal and Muscular Disorders

ischemic preconditioning of cardiomyocytes 4,17E-03 ADORA3 1

Organ Morphology lack of granular layer of epidermis 4,17E-03 TP63 1

Cancer, Organismal Injury and Abnormalities, Renal and Urological Diseaselocally advanced EGFR positive bladder cancer 4,17E-03 EGFR 1

Cancer, Organismal Injury and Abnormalities, Renal and Urological Diseaselocally advanced HER2 positive bladder cancer 4,17E-03 EGFR 1

Cell-To-Cell Signaling and Interaction, Hematological System Development and Function, Inflammatory Response

memory T cell response of cytotoxic T cells 4,17E-03 HLA-DQB1 1

Developmental Disorder, Gastrointestinal Diseasemetaplasia of esophagogastric junction 4,17E-03 TP63 1

Dermatological Diseases and Conditions, Developmental Disorder metaplasia of squamous epithelium 4,17E-03 TP63 1

Cancer, Organismal Injury and Abnormalities, Renal and Urological Diseasemetastatic EGFR positive bladder cancer 4,17E-03 EGFR 1

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Cancer, Organismal Injury and Abnormalities, Renal and Urological Diseasemetastatic HER2 positive bladder cancer 4,17E-03 EGFR 1

Cellular Movementmigration of chronic lymphocytic leukemia cells 4,17E-03 TP63 1

Cellular Movement migration of colonocytes 4,17E-03 EGFR 1

Cellular Movementmigration of nasopharyngeal carcinoma cells 4,17E-03 GNA12 1

Cell Cycle mitogenesis of colon cancer cell lines 4,17E-03 EGFR 1

Cell Cycle, Hepatic System Development and Function mitogenesis of liver cell lines 4,17E-03 EGFR 1

Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Renal and Urological System Development and Function, Reproductive System Development and Function, Tissue Development morphogenesis of breast tissue 4,17E-03 EGFR 1

Cell-To-Cell Signaling and Interaction, Nervous System Development and Function, Skeletal and Muscular System Development and Function

neurotransmission of neuromuscular junctions 4,17E-03 CACNA1A 1

Cancer, Respiratory Diseasenon small cell lung adenosquamous carcinoma 4,17E-03 EGFR 1

Organ Morphology, Reproductive System Development and Function quantity of mammary alveolus 4,17E-03 EGFR 1

Cellular Development, Hair and Skin Development and Functionre-epithelialization of squamous cell carcinoma cell lines 4,17E-03 EGFR 1

Cell Cyclesenescence of bladder cancer cell lines 4,17E-03 TP63 1

Gastrointestinal Disease, Organismal Injury and Abnormalities, Tissue Morphology size of aberrant crypt foci 4,17E-03 EGFR 1

Cancer, Respiratory Disease, Tumor Morphology size of lung carcinoma 4,17E-03 EGFR 1

Digestive System Development and Function size of tooth 4,17E-03 FAM20C 1

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Embryonic Development, Hair and Skin Development and Function, Organ Development stratification of skin 4,17E-03 TP63 1

Cell Death and Survival, Respiratory System Development and Function survival of bronchial epithelial cells 4,17E-03 EGFR 1

Cancer transformation of erythroblasts 4,17E-03 EGFR 1

Cancer, Organismal Injury and Abnormalities tumorigenesis of embryonic cell lines 4,17E-03 EGFR 1

Cell Signaling, Nucleic Acid Metabolism, Small Molecule Biochemistry upregulation of cyclic AMP 4,17E-03 EGFR 1

Hair and Skin Development and Function waviness of hair 4,17E-03 EGFR 1

Hereditary Disorder, Skeletal and Muscular Disorders Muscular Dystrophy 4,27E-03 DNAJB6, HLA-DQB1, mir-548 3

Cancer, Gastrointestinal Disease, Tumor Morphology invasion of digestive organ tumor 4,33E-03 EGFR, GNA12 2

Cell Cyclearrest in interphase of lung cancer cell lines 4,51E-03 EGFR, TP63 2

Cell-To-Cell Signaling and Interaction, Molecular Transport, Small Molecule Biochemistry secretion of neurotransmitter 4,66E-03 BAIAP3, CACNA1A, PTPRN2 3

Auditory and Vestibular System Development and Function bodily balance 5,08E-03 CACNA1A, FAM20C 2

Cell Cyclearrest in G2/M phase of tumor cell lines 5,27E-03 AMACR, EGFR 2

Cellular Development, Cellular Growth and Proliferation, Nervous System Development and Function, Tissue Development

proliferation of neuronal progenitor cells 5,47E-03 EGFR, KDM1A 2

Cellular Development, Connective Tissue Development and Function differentiation of fibroblast cell lines 5,59E-03 FAM20C, GNA12, KDM1A 3

Organ Morphology, Skeletal and Muscular System Development and Function length of long bones 5,67E-03 DDR2, PKDCC 2

Cell Cycle mitogenesis of tumor cell lines 5,67E-03 EGFR, PTPRN2 2

Organ Morphology morphology of hair follicle 5,67E-03 EGFR, TP63 2

Auditory and Vestibular System Development and Function, Organ Morphology morphology of ear 5,77E-03 CLDN11, EGFR, TP63 3

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Developmental Disorder, Hereditary Disorder, Skeletal and Muscular Disorders Duchenne muscular dystrophy 6,09E-03 HLA-DQB1, mir-548 2

Developmental Disorder, Organismal Injury and Abnormalities, Reproductive System Disease hypoplasia of genital organ 6,09E-03 FAM20C, TP63 2

Cancer, Respiratory DiseaseEGFR (L858R) positive lung adenocarcinoma 6,25E-03 EGFR 1

CancerEGFR mutation positive large cell carcinoma 6,25E-03 EGFR 1

Cancer, Respiratory DiseaseHER2 mutation positive non-small cell lung cancer 6,25E-03 EGFR 1

Cell CycleS phase of squamous cell carcinoma cell lines 6,25E-03 EGFR 1

Dermatological Diseases and Conditions UV-sensitive syndrome 6,25E-03 UVSSA 1

Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Respiratory System Development and Function, Tissue Development

abnormal morphology of terminal bronchiole 6,25E-03 EGFR 1

Hair and Skin Development and Function, Organ Morphologyabnormal morphology of wavy vibrissae 6,25E-03 EGFR 1

Cancer, Respiratory Diseaseadvanced EGFR mutation negative non-small cell lung cancer 6,25E-03 EGFR 1

Cell Death and Survival apoptosis of cortical precursor cells 6,25E-03 TP63 1

Cell Cyclearrest in G1 phase of squamous cell carcinoma cell lines 6,25E-03 EGFR 1

Embryonic Developmentattachment of chorioallantoic membrane 6,25E-03 DNAJB6 1

Cell-To-Cell Signaling and Interaction, Tissue Development attachment of extracellular matrix 6,25E-03 EGFR 1

Gene Expression binding of NF-Y binding site 6,25E-03 HBE1 1

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Cell Morphologycell spreading of ovarian cancer cell lines 6,25E-03 EGFR 1

Cell-To-Cell Signaling and Interaction, Tissue Developmentcell-cell adhesion of squamous cell carcinoma cell lines 6,25E-03 TP63 1

Neurological Disease coma 6,25E-03 CACNA1A 1

Ophthalmic Disease cornea-lens fusion 6,25E-03 EGFR 1

Cellular Compromise damage of heart cell lines 6,25E-03 ADORA3 1

Cellular Compromise damage of muscle cell lines 6,25E-03 ADORA3 1

Cell Morphology, Cellular Compromise deformation of red blood cells 6,25E-03 HBE1 1

Cellular Development, Tissue Developmentepithelial-mesenchymal transition of keratinocytes 6,25E-03 TP63 1

Embryonic Development, Organ Development, Organismal Development, Renal and Urological System Development and Function, Reproductive System Development and Function, Tissue Development formation of corpus luteum 6,25E-03 PTPRN2 1

Organ Morphology lack of lacrimal gland 6,25E-03 TP63 1

Cancer, Respiratory Disease

locally advanced EGFR activating mutation positive lung adenocarcinoma 6,25E-03 EGFR 1

Cancer, Respiratory Diseaselocally advanced EGFR mutation positive non-small cell lung cancer 6,25E-03 EGFR 1

Cancer, Respiratory Disease lung papillary adenocarcinoma 6,25E-03 EGFR 1

Embryonic Development, Nervous System Development and Function, Organ Development, Organismal Development maturation of cerebellum 6,25E-03 CACNA1A 1

Developmental Disorder, Gastrointestinal Disease metaplasia of stomach 6,25E-03 TP63 1

Cancer micropapillary adenocarcinoma 6,25E-03 EGFR 1

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Cell Cycle, Hematological System Development and Functionmitogenesis of erythroid progenitor cells 6,25E-03 EGFR 1

Embryonic Development, Organismal Development, Tissue Development morphogenesis of Wolffian duct 6,25E-03 EGFR 1

Cell Cycle ploidy of ovarian cancer cell lines 6,25E-03 EGFR 1

Cellular Development, Cellular Growth and Proliferation, Tissue Development proliferation of epithelial stem cells 6,25E-03 TP63 1

Cellular Movement scattering of neuroblastoma cell lines 6,25E-03 EGFR 1

Developmental Disorder, Hereditary Disorder, Skeletal and Muscular Disorders split-hand/foot malformation 6,25E-03 TP63 1

Nervous System Development and Functionspreading depression of cerebral cortex 6,25E-03 CACNA1A 1

Cancer, Cell Death and Survival, Tumor Morphology survival of mammary tumor cells 6,25E-03 EGFR 1

Cellular Assembly and Organization, Nervous System Development and Function turnover of synaptic vesicles 6,25E-03 CACNA1A 1

Organismal Injury and Abnormalities umbilical hernia 6,25E-03 TP63 1

Cancer cell transformation 6,46E-03 EGFR, GNA12, LPP, MCF2L, TP63 5

Cell Cycle mitogenesis 6,53E-03 EGFR, GNA12, PTPRN2 3

Digestive System Development and Function, Organismal Development abnormal morphology of tooth 6,96E-03 FAM20C, TP63 2

Cellular Movementcell movement of squamous cell carcinoma cell lines 6,96E-03 EGFR, TP63 2

Small Molecule Biochemistry quantity of creatinine in blood 6,96E-03 ADORA3, EGFR 2

Cell Cycle senescence of tumor cell lines 6,96E-03 EGFR, TP63 2

Digestive System Development and Function, Organ Morphology, Organismal Development

abnormal morphology of large intestine 7,19E-03 EGFR, TP63 2

Organismal Development morphogenesis of gland 7,19E-03 EGFR, TP63 2

Respiratory System Development and Function abnormal morphology of snout 7,42E-03 DDR2, EGFR 2

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Cell Signaling, Nucleic Acid Metabolism, Small Molecule Biochemistry binding of GTP 8,13E-03 EGFR, GNA12 2

Neurological Disease, Skeletal and Muscular Disorders neuromuscular disease 8,27E-03ADORA3, BRD2, CACNA1A, DNAJB6, HLA-DQB1, METTL9, RTN2 7

Cancer, Respiratory DiseaseEGFR exon19 deletion positive metastatic non-small cell lung cancer 8,32E-03 EGFR 1

Cancer, Respiratory DiseaseEGFR(L858R) positive metastatic non-small cell lung cancer 8,32E-03 EGFR 1

Cancer, Organismal Injury and Abnormalities, Reproductive System DiseaseHER2 positive metastatic breast cancer 8,32E-03 EGFR 1

Digestive System Development and Function, Organ Morphology, Organismal Development

abnormal morphology of filiform papilla 8,32E-03 EGFR 1

Digestive System Development and Function, Organ Morphology, Organismal Development

abnormal morphology of fungiform papillae 8,32E-03 EGFR 1

Cell-To-Cell Signaling and Interaction activation of skin cancer cell lines 8,32E-03 TP63 1

Cell-To-Cell Signaling and Interactionactivation of squamous cell carcinoma cell lines 8,32E-03 TP63 1

Developmental Disorder, Skeletal and Muscular Disorders adactyly 8,32E-03 TP63 1

Cell-To-Cell Signaling and Interaction, Tissue Development adhesion of ovarian cancer cell lines 8,32E-03 EGFR 1

Cell-To-Cell Signaling and Interaction, Tissue Development adhesion of skin cancer cell lines 8,32E-03 TP63 1

Cell Cyclearrest in G1 phase of thyroid tumor cell lines 8,32E-03 TP63 1

Cellular Development, Cellular Growth and Proliferation, Hair and Skin Development and Function, Tissue Development arrest in growth of keratinocytes 8,32E-03 TP63 1

Cell-To-Cell Signaling and Interaction, Hair and Skin Development and Function, Tissue Development attachment of keratinocytes 8,32E-03 EGFR 1

Lipid Metabolism, Small Molecule Biochemistry catabolism of sphingomyelin 8,32E-03 ENPP7 1

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Cellular Movementcell movement of keratinocyte cancer cell lines 8,32E-03 TP63 1

Cancer, Cell Morphology cell rounding of astrocytoma cells 8,32E-03 GNA12 1

Cell Death and Survival cell viability of thyroid tumor cell lines 8,32E-03 TP63 1

Cancer, Cellular Response to Therapeutics, Respiratory Diseasechemotherapy resistance of lung cancer cell lines 8,32E-03 EGFR 1

Cancer, Cell-To-Cell Signaling and Interaction, Inflammatory Responsecytotoxic reaction of hepatoma cell lines 8,32E-03 GNA12 1

Digestive System Development and Function, Hepatic System Development and Function, Organ Morphology delay in regeneration of liver 8,32E-03 EGFR 1

Cardiovascular System Development and Function, Cellular Development, Hematological System Development and Function, Hematopoiesis, Organismal Development, Tissue Development

development of colony-forming erythroid cells 8,32E-03 EGFR 1

Renal and Urological System Development and Function, Reproductive System Development and Function, Tissue Development development of urothelium 8,32E-03 TP63 1

Cellular Development, Embryonic Development, Organismal Development, Tissue Development differentiation of syncytiotrophoblast 8,32E-03 TP63 1

Drug Metabolism, Molecular Transport, Small Molecule Biochemistry excretion of epinephrine 8,32E-03 PTPRN2 1

Organismal Injury and Abnormalities formation of abdominal hernia 8,32E-03 TP63 1

Cellular Assembly and Organization, Cellular Compromise, Nervous System Development and Function

formation of intermediate filament inclusions 8,32E-03 DNAJB6 1

Cancer hyperplasia of breast cell lines 8,32E-03 EGFR 1

Tissue Morphology lack of apical ectodermal ridge 8,32E-03 TP63 1

Digestive System Development and Function, Organismal Development, Tissue Morphology lack of enamel 8,32E-03 FAM20C 1

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Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Renal and Urological System Development and Function, Reproductive System Development and Function, Tissue Development lack of mammary gland 8,32E-03 TP63 1

Cellular Movement, Hematological System Development and Function, Immune Cell Trafficking, Inflammatory Response

migration of peripheral blood neutrophils 8,32E-03 DDR2 1

Cell Cyclemitogenesis of pancreatic cancer cell lines 8,32E-03 PTPRN2 1

Cell Morphology morphology of skin cancer cell lines 8,32E-03 EGFR 1

Cell Morphology polarity of breast cell lines 8,32E-03 EGFR 1

Cancer, Neurological Disease primary glioblastoma 8,32E-03 EGFR 1

Cellular Development, Cellular Growth and Proliferation, Renal and Urological System Development and Function proliferation of proximal tubule cells 8,32E-03 EGFR 1

Cancer, Cellular Development, Cellular Growth and Proliferation, Tumor Morphology

proliferation of squamous carcinoma cells 8,32E-03 EGFR 1

Organismal Injury and Abnormalities, Renal and Urological Disease, Tissue Morphology quantity of renal lesion 8,32E-03 EGFR 1

Cell Cyclere-entry into S phase of colon cancer cell lines 8,32E-03 EGFR 1

Cellular Movement scattering of lung cancer cell lines 8,32E-03 TP63 1

Cell Morphology, Hair and Skin Development and Function, Renal and Urological System Development and Function

transepithelial electrical resistance of kidney cell lines 8,32E-03 EGFR 1

Cancer, Neurological Disease tumorigenesis of glioblastoma 8,32E-03 EGFR 1

Cancer, Gastrointestinal Disease colon cancer 8,59E-03

ADORA3, AGAP1, AMACR, CACNA1A, CLDN11, CNNM4, DDR2, EGFR, GNA12, METTL9, OR52N5, PLCH2, PTPRN2, RANBP6, USP42, VPS13B 16

Cellular Movement cell movement of tumor cells 8,67E-03 EGFR, GNA12, TP63 3

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Cancer, Respiratory Disease metastasis of lung 9,12E-03 EGFR, TP63 2

Embryonic Development, Organ Development, Organismal Development, Renal and Urological System Development and Function, Reproductive System Development and Function, Tissue Development development of genital organ 9,24E-03 BRD2, CLDN11, PTPRN2, TP63, USP42 5

Organ Morphology, Respiratory System Development and Function abnormal morphology of nose 9,38E-03 DDR2, TP63 2

Renal and Urological System Development and Function, Reproductive System Development and Function development of reproductive system 9,40E-03

BRD2, CLDN11, EGFR, PTPRN2, TP63, USP42 6

Cell-To-Cell Signaling and Interaction, Tissue Development cell-cell adhesion 9,88E-03 CDH20, EGFR, TP63 3

Cell Signaling Rho protein signal transduction 9,90E-03 GNA12, MCF2L 2

Cell Morphology morphology of tumor cell lines 1,00E-02 EGFR, GNA12, TP63 3

Behavior Pavlovian learning 1,04E-02 PTPRN2 1

Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Respiratory System Development and Function, Tissue Development

abnormal morphology of pulmonary acinus 1,04E-02 EGFR 1

Digestive System Development and Function, Organismal Development, Tissue Morphology

abnormal morphology of tooth hard tissue 1,04E-02 FAM20C 1

Cell Cyclearrest in G2/M phase of lung cancer cell lines 1,04E-02 EGFR 1

Cell Cyclearrest in G2/M phase of prostate cancer cell lines 1,04E-02 AMACR 1

Cellular Development, Cellular Growth and Proliferationarrest in growth of bladder cancer cell lines 1,04E-02 TP63 1

Gene Expression binding of CCAAT element 1,04E-02 HBE1 1

Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Renal and Urological System Development and Function, Reproductive System Development and Function, Tissue Development

branching morphogenesis of prostate gland 1,04E-02 TP63 1

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Connective Tissue Disorders, Inflammatory Disease, Neurological Disease, Skeletal and Muscular Disorders cervical spondylosis 1,04E-02 CACNA1A 1

Cellular Growth and Proliferationclonogenicity of cervical cancer cell lines 1,04E-02 TP63 1

Cellular Growth and Proliferation cytostasis of kidney cancer cell lines 1,04E-02 EGFR 1

Cardiovascular System Development and Function, Embryonic Development, Organ Development, Organismal Development, Tissue Development development of semilunar valve 1,04E-02 EGFR 1

Cellular Development, Connective Tissue Development and Function, Tissue Development differentiation of odontoblasts 1,04E-02 FAM20C 1

Developmental Disorder, Organismal Injury and Abnormalities, Reproductive System Disease dysplasia of mammary gland 1,04E-02 EGFR 1

Cancer, Cellular Developmentepithelial-mesenchymal transition of carcinoma 1,04E-02 TP63 1

Infectious Disease infection of lung cell lines 1,04E-02 EGFR 1

Cellular Growth and Proliferation, Hematological System Development and Function inhibition of monocytes 1,04E-02 ADORA3 1

Connective Tissue Development and Function, Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development lack of carpal bone 1,04E-02 TP63 1

Organismal Development, Skeletal and Muscular System Development and Function lack of hindlimb 1,04E-02 TP63 1

Organ Morphology, Reproductive System Development and Function lack of oviduct 1,04E-02 TP63 1

Organ Morphology, Reproductive System Development and Function lack of prostate gland 1,04E-02 TP63 1

Hair and Skin Development and Function, Organ Morphology lack of stratum corneum 1,04E-02 TP63 1

Cancer malignancy of tumor 1,04E-02 EGFR 1

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Cancer, Hematological Disease, Immunological Disease, Organismal Injury and Abnormalities mediastinal large B-cell lymphoma 1,04E-02 TP63 1

Cancer mesothelioma of peritoneum 1,04E-02 EGFR 1

Cellular Movementmigration of cholangiocarcinoma cell lines 1,04E-02 TP63 1

Cell Morphologymorphology of squamous cell carcinoma cell lines 1,04E-02 TP63 1

Neurological Disease pharmacologically induced seizure 1,04E-02 PTPRN2 1

Gastrointestinal Disease, Organismal Injury and Abnormalities, Tissue Morphology quantity of aberrant crypt foci 1,04E-02 EGFR 1

Cancer, Tumor Morphology remission of tumor 1,04E-02 EGFR 1

Cardiovascular System Development and Function, Cell Cycle, Cellular Development senescence of endothelial cell lines 1,04E-02 TP63 1

Cell-To-Cell Signaling and Interaction sensitization of carcinoma cell lines 1,04E-02 EGFR 1

Cell-To-Cell Signaling and Interaction sensitization of lung cancer cell lines 1,04E-02 EGFR 1

Cancer, Tumor Morphology size of adenoma 1,04E-02 EGFR 1

Cellular Developmenttransdifferentiation of acinar gland cells 1,04E-02 EGFR 1

Respiratory Disease atelectasis 1,07E-02 CACNA1A, EGFR 2

Hereditary Disorder, Neurological Disease autosomal dominant encephalopathy 1,10E-02 CACNA1A, RTN2 2

Skeletal and Muscular System Development and Functionabnormal morphology of axial skeleton 1,12E-02 FAM20C, PKDCC, TP63 3

Cancer, Tumor Morphology invasion of carcinoma 1,15E-02 EGFR, GNA12 2

Cancer, Endocrine System Disorders, Organismal Injury and Abnormalities, Reproductive System Disease testicular carcinoma 1,15E-02 CLDN11, FAM20C 2

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Connective Tissue Disorders, Neurological Disease, Skeletal and Muscular Disorders abnormality of vertebral column 1,16E-02 ADORA3, CACNA1A, TP63 3

Cardiovascular Disease, Developmental Disorder, Organismal Injury and Abnormalities hypertrophy of left ventricle 1,18E-02 ADORA3, EGFR 2

Cardiovascular Disease reperfusion injury 1,18E-02 ADORA3, GNA12 2

Cardiovascular System Development and Function, Cellular Development, Cellular Growth and Proliferation, Skeletal and Muscular System Development and Function, Tissue Development proliferation of cardiomyocytes 1,21E-02 DNAJB6, EGFR 2

Cancer papillary carcinoma 1,22E-02 AMACR, CACNA1A, EGFR 3

Cellular Development, Embryonic Development differentiation of embryonic cell lines 1,24E-02 FAM20C, KDM1A 2

Auditory and Vestibular System Development and Function, Organ Morphology morphology of cochlea 1,24E-02 CLDN11, TP63 2

Cancer, Organismal Injury and Abnormalities, Renal and Urological Disease bladder cancer 1,24E-02 EGFR, RANBP6, TP63 3

Connective Tissue Development and Function, Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development

abnormal morphology of basisphenoid bone foramen 1,25E-02 PKDCC 1

Respiratory System Development and Function, Tissue Morphologyabnormal morphology of respiratory epithelium 1,25E-02 TP63 1

Reproductive System Development and Function, Tissue Morphologyabnormal morphology of urogenital sinus 1,25E-02 TP63 1

Tissue Development aggregation of breast cancer cell lines 1,25E-02 GNA12 1

Cardiovascular System Development and Function cardioprotection of heart 1,25E-02 ADORA3 1

Cellular Growth and Proliferationcolony formation of kidney cancer cell lines 1,25E-02 EGFR 1

Cancer, Respiratory Diseasedevelopment of non small cell lung adenocarcinoma 1,25E-02 EGFR 1

Gastrointestinal Disease, Organismal Injury and Abnormalities development of polyp 1,25E-02 EGFR 1

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Embryonic Development, Organ Development, Organismal Development, Renal and Urological System Development and Function, Reproductive System Development and Function, Tissue Development development of urinary bladder 1,25E-02 TP63 1

Cell-To-Cell Signaling and Interaction, Drug Metabolism, Molecular Transport, Small Molecule Biochemistry excretion of norepinephrine 1,25E-02 PTPRN2 1

Cancer focus formation of tumor cell lines 1,25E-02 TP63 1

Cellular Growth and Proliferation, Connective Tissue Development and Function, Skeletal and Muscular System Development and Function, Tissue Development generation of osteoclasts 1,25E-02 EGFR 1

Cellular Development, Cellular Growth and Proliferation, Tissue Development growth of colonocytes 1,25E-02 EGFR 1

Behavior hippocampal learning 1,25E-02 TP63 1

Infectious Disease infection by vaccinia virus 1,25E-02 EGFR 1

Organ Morphology, Organismal Development, Reproductive System Development and Function lack of ovary 1,25E-02 TP63 1

Connective Tissue Development and Function, Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development lack of radius 1,25E-02 TP63 1

Digestive System Development and Function, Organ Morphology lack of salivary gland 1,25E-02 TP63 1

Connective Tissue Development and Function, Embryonic Development, Organ Development, Organ Morphology, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development lack of ulna 1,25E-02 TP63 1

Developmental Disorder, Hereditary Disorder, Skeletal and Muscular Disorders limb girdle muscular dystrophy type 1 1,25E-02 DNAJB6 1

Cancer, Respiratory Disease metastatic lung adenocarcinoma 1,25E-02 EGFR 1

Cell Morphologymorphology of ovarian cancer cell lines 1,25E-02 EGFR 1

Inflammatory Disease, Inflammatory Response, Organismal Injury and Abnormalities, Renal and Urological Disease nephrotoxic nephritis 1,25E-02 HLA-DQB1 1

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Cancer, Gastrointestinal Disease progressed colorectal cancer 1,25E-02 EGFR 1

Cancer, Cellular Development, Cellular Growth and Proliferation, Neurological Disease, Tumor Morphology proliferation of glioma 1,25E-02 EGFR 1

Neurological Disease radiculopathy 1,25E-02 CACNA1A 1

Cancer, Tumor Morphology regression of adenoma 1,25E-02 EGFR 1

Cellular Movement scattering of colon cancer cell lines 1,25E-02 EGFR 1

Protein Trafficking signaling of protein 1,25E-02 EGFR 1

Cancersphere formation of breast cancer cell lines 1,25E-02 EGFR 1

Cancertransformation of bone marrow cell lines 1,25E-02 EGFR 1

Infectious Disease viremia 1,25E-02 HLA-DQB1 1

Connective Tissue Disorders, Inflammatory Disease, Neurological Disease, Skeletal and Muscular Disorders spondylarthritis 1,27E-02 ADORA3, CACNA1A 2

Digestive System Development and Functionabnormal morphology of digestive system 1,28E-02 EGFR, ENPP7, FAM20C, PKDCC, TP63 5

Lipid Metabolism, Small Molecule Biochemistry catabolism of lipid 1,30E-02 AMACR, ENPP7 2

Cellular Movement migration of melanoma cell lines 1,33E-02 DNAJB6, EGFR 2

Cancer, Respiratory Disease squamous cell lung cancer 1,33E-02 EGFR, TP63 2

Connective Tissue Disorders, Inflammatory Disease, Skeletal and Muscular Disorders arthritis 1,33E-02

ADORA3, BRD2, CACNA1A, HLA-DQB1, METTL9, PTPRN2, TP63 7

Organismal Injury and Abnormalities Wound 1,35E-02 DDR2, EGFR, TP63 3

Digestive System Development and Function, Embryonic Development, Organismal Development development of palate 1,36E-02 PKDCC, TP63 2

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Cell Death and Survival apoptosis of epidermal cells 1,42E-02 EGFR, TP63 2

Cancer, Connective Tissue Disorders, Skeletal and Muscular Disorders bone tumor 1,42E-02 CACNA1A, EGFR 2

Organismal Developmentabnormal morphology of abdominal wall 1,45E-02 TP63 1

Digestive System Development and Function, Organismal Development, Tissue Morphology abnormal morphology of dentin 1,45E-02 FAM20C 1

Organ Morphology, Respiratory System Development and Function, Tissue Morphology

abnormal morphology of tracheal ciliated epithelium 1,45E-02 TP63 1

Cancer, Dermatological Diseases and Conditions acral lentiginous melanoma cancer 1,45E-02 EGFR 1

Cell Signaling adenosine receptor signaling 1,45E-02 ADORA3 1

Cancer, Cardiovascular System Development and Function angiogenesis of head and neck tumor 1,45E-02 EGFR 1

Hair and Skin Development and Function appearance of hair 1,45E-02 EGFR 1

Cellular Development, Cellular Growth and Proliferationarrest in growth of brain cancer cell lines 1,45E-02 EGFR 1

Cellular Development, Cellular Growth and Proliferationarrest in growth of prostate cancer cell lines 1,45E-02 AMACR 1

Cell Morphologycell rounding of neuroblastoma cell lines 1,45E-02 GNA12 1

Cell Morphology, Cellular Assembly and Organization contraction of cytoskeleton 1,45E-02 GNA12 1

Connective Tissue Disorders, Inflammatory Disease, Organismal Injury and Abnormalities, Skeletal and Muscular Disorders, Tissue Morphology degeneration of intervertebral disc 1,45E-02 TP63 1

Digestive System Development and Function, Embryonic Development, Organ Development, Organismal Development, Tissue Development development of esophagus 1,45E-02 TP63 1

Cellular Development, Respiratory System Development and Function, Tissue Development differentiation of AT2 cells 1,45E-02 EGFR 1

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Cellular Development, Nervous System Development and Function differentiation of glial progenitor cells 1,45E-02 EGFR 1

Cell-To-Cell Signaling and Interaction, Nervous System Development and Function endocochlear potential 1,45E-02 CLDN11 1

Nervous System Development and Function ensheathment of axons 1,45E-02 CLDN11 1

Infectious Disease infection by rhinovirus 1,45E-02 EGFR 1

Cardiovascular Disease, Organismal Injury and Abnormalities, Skeletal and Muscular Disorders, Tissue Morphology injury of myocardium 1,45E-02 ADORA3 1

Cellular Development, Connective Tissue Development and Function lifespan of fibroblasts 1,45E-02 TP63 1

Cellular Development, Cellular Growth and Proliferation, Skeletal and Muscular System Development and Function proliferation of bone cell lines 1,45E-02 EGFR 1

Molecular Transport quantity of nitrate 1,45E-02 ADORA3 1

Cancer regulation of tumor 1,45E-02 EGFR 1

Digestive System Development and Function, Organ Morphology size of intestinal villus 1,45E-02 ENPP7 1

Cell Death and Survival survival of mesenchymal stem cells 1,45E-02 EGFR 1

Cancer transformation of intestinal cell lines 1,45E-02 EGFR 1

Cell Cycle G1 phase 1,46E-02 EGFR, GNA12, LRWD1, TP63 4

Cellular Assembly and Organization, Cellular Compromise formation of cellular inclusion bodies 1,48E-02 CACNA1A, DNAJB6 2

Cellular Development, Connective Tissue Development and Function, Skeletal and Muscular System Development and Function, Tissue Development differentiation of chondrocytes 1,51E-02 EGFR, PKDCC 2

Cancer, Organismal Injury and Abnormalities, Reproductive System Disease metastatic breast cancer 1,55E-02 DNAJB6, EGFR 2

Gastrointestinal Disease abnormal function of digestive system 1,58E-02 EGFR, ENPP7 2

Cancer carcinoma in situ 1,58E-02 CLDN11, FAM20C 2

Cellular Movement, Hair and Skin Development and Function cell movement of keratinocytes 1,58E-02 EGFR, TP63 2

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Cancer, Cell Death and Survival, Tumor Morphology cell viability of cancer cells 1,58E-02 BRD2, EGFR 2

Organismal Survival viability 1,58E-02 EGFR, HBE1 2

Organismal Development, Skeletal and Muscular System Development and Function abnormal morphology of limb 1,58E-02 FAM20C, PKDCC, TP63 3

Embryonic Development, Organismal Development morphogenesis of embryo 1,60E-02 EGFR, GNA12, TP63 3

Cell Death and Survival cell viability of carcinoma cell lines 1,61E-02 EGFR, TP63 2

Cancer, Endocrine System Disorders small-cell carcinoma 1,64E-02 EGFR, TP63 2

Digestive System Development and Function development of gastrointestinal tract 1,65E-02 EGFR, PKDCC, TP63 3

Digestive System Development and Function, Organismal Development abnormal morphology of anus 1,66E-02 TP63 1

Digestive System Development and Function, Endocrine System Development and Function, Organ Morphology, Organismal Development

abnormal morphology of small pancreas 1,66E-02 EGFR 1

Cancer adenosquamous carcinoma 1,66E-02 EGFR 1

Cell-To-Cell Signaling and Interaction, Inflammatory Response anti-inflammatory response of cells 1,66E-02 ADORA3 1

Cell Cyclearrest in cell cycle progression of brain cancer cell lines 1,66E-02 EGFR 1

Cellular Development, Cellular Growth and Proliferation, Hematological System Development and Function

arrest in growth of B-lymphocyte derived cell lines 1,66E-02 EGFR 1

Cell Morphologycell rounding of pheochromocytoma cell lines 1,66E-02 GNA12 1

Connective Tissue Development and Function, Embryonic Development, Organ Development, Organismal Development, Skeletal and Muscular System Development and Function, Tissue Development formation of endochondral bone 1,66E-02 EGFR 1

Cell-To-Cell Signaling and Interaction, Inflammatory Responseinflammatory response of bone marrow-derived macrophages 1,66E-02 BRD2 1

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Cellular Response to Therapeuticsradiosensitivity of breast cancer cell lines 1,66E-02 EGFR 1

Cell Morphology, Cellular Function and Maintenance repair of carcinoma cell lines 1,66E-02 EGFR 1

Cell Morphology, Cellular Function and Maintenance repair of lung cancer cell lines 1,66E-02 EGFR 1

Organismal Injury and Abnormalities, Reproductive System Disease rupture of ovarian follicle 1,66E-02 EGFR 1

Cancer, Cell Death and Survival, Cellular Development, Cellular Function and Maintenance self-renewal of cancer stem cells 1,66E-02 EGFR 1

Cancer, Cell Death and Survival, Tumor Morphology survival of glioma cells 1,66E-02 BRD2 1

Cancer transformation of astrocytes 1,66E-02 EGFR 1

Cancer, Gastrointestinal Disease oral cancer 1,67E-02 EGFR, GNA12, TP63 3

Cellular Growth and Proliferation, Connective Tissue Development and Function, Tissue Development

colony formation of fibroblast cell lines 1,68E-02 EGFR, MCF2L 2

Cellular Assembly and Organization formation of plasma membrane 1,70E-02 CACNA1A, CLDN11, GNA12 3

Gene Expression transcription of RNA 1,71E-02BRD2, DNAJB6, EGFR, GNA12, HBE1, KDM1A, LRWD1, MCF2L, TP63, VGLL2 10

Connective Tissue Disorders, Developmental Disorder, Gastrointestinal Disease, Skeletal and Muscular Disorders cleft palate syndrome 1,71E-02 EGFR, TP63 2

Cellular Growth and Proliferationproliferation of bone marrow cell lines 1,75E-02 EGFR, TP63 2

Digestive System Development and Function, Embryonic Development, Organ Development, Organismal Development tooth development 1,78E-02 EGFR, TP63 2

Embryonic Development, Hair and Skin Development and Function, Organ Development, Organismal Development, Tissue Development hair follicle development 1,81E-02 EGFR, TP63 2

Cell Cycle arrest in interphase 1,84E-02 AMACR, EGFR, LRWD1, TP63 4

Cell Death and Survival apoptosis of mucosa cells 1,86E-02 EGFR 1

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Cell Cyclearrest in G1 phase of brain cancer cell lines 1,86E-02 EGFR 1

Cell Cycle, Respiratory System Development and Function arrest in G1 phase of lung cell lines 1,86E-02 LRWD1 1

Cell-To-Cell Signaling and Interaction, Tissue Development attachment of bone marrow cell lines 1,86E-02 EGFR 1

Cell Morphology cell rounding of brain cancer cell lines 1,86E-02 GNA12 1

Cell Morphology elongation of tumor cell lines 1,86E-02 EGFR 1

Cellular Assembly and Organization, DNA Replication, Recombination, and Repair formation of RAD51 nuclear focus 1,86E-02 EGFR 1

Digestive System Development and Function, Gastrointestinal Disease, Hepatic System Development and Function, Hepatic System Disease, Inflammatory Disease, Inflammatory Response, Organ Development fulminant hepatitis 1,86E-02 ADORA3 1

Organ Development function of lacrimal gland 1,86E-02 FAM20C 1

Organ Morphology, Skeletal and Muscular System Development and Function height of cranium 1,86E-02 DDR2 1

Cell Morphology, Humoral Immune Response, Lymphoid Tissue Structure and Development

morphology of marginal-zone B lymphocytes 1,86E-02 GNA12 1

Cell Morphologymorphology of pheochromocytoma cell lines 1,86E-02 GNA12 1

Cellular Assembly and Organization quantity of clathrin-coated pits 1,86E-02 EGFR 1

Cancer, Hematological Disease, Immunological Disease, Organismal Injury and Abnormalities

recurrent childhood acute lymphoblastic leukemia 1,86E-02 ADORA3 1

Cancer, Hematological Disease, Immunological Disease, Organismal Injury and Abnormalities

refractory childhood acute lymphoblastic leukemia 1,86E-02 ADORA3 1

Respiratory System Development and Function respiratory minute volume 1,86E-02 PKDCC 1

Cellular Movementcell movement of lung cancer cell lines 1,95E-02 EGFR, TP63 2

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Organismal Development abnormal morphology of head 2,01E-02CACNA1A, DDR2, EGFR, FAM20C, PKDCC, TP63 6

Lymphoid Tissue Structure and Development morphology of lymph follicle 2,06E-02 GNA12, HLA-DQB1 2

Digestive System Development and Function, Endocrine System Development and Function, Organ Morphology, Organismal Development

abnormal morphology of disorganized islets of Langerhans 2,07E-02 EGFR 1

Lymphoid Tissue Structure and Development, Organ Morphology, Organismal Development

abnormal morphology of periarteriolar lymphoid sheath 2,07E-02 HLA-DQB1 1

Digestive System Development and Function, Organ Morphology, Organismal Development

abnormal morphology of submandibular gland 2,07E-02 EGFR 1

Cell Death and Survival apoptosis of proximal tubule cells 2,07E-02 EGFR 1

Cancer, Neurological Disease brain metastasis 2,07E-02 EGFR 1

Neurological Disease, Psychological Disorders daytime sleepiness 2,07E-02 ADORA3 1

Digestive System Development and Function, Embryonic Development, Organismal Development development of secondary palate 2,07E-02 TP63 1

Cellular Developmentdifferentiation of keratinocyte cancer cell lines 2,07E-02 TP63 1

Cellular Compromise disruption of Golgi apparatus 2,07E-02 VPS13B 1

Embryonic Development, Organismal Development, Tissue Development formation of prostatic bud 2,07E-02 TP63 1

Embryonic Development, Organ Development, Organismal Development, Renal and Urological System Development and Function, Reproductive System Development and Function, Tissue Development growth of mammary duct 2,07E-02 EGFR 1

Cellular Movement, Hematological System Development and Function, Humoral Immune Response, Immune Cell Trafficking

migration of marginal-zone B lymphocytes 2,07E-02 GNA12 1

Hair and Skin Development and Function pigmentation of skin 2,07E-02 EGFR 1

Cellular Development, Cellular Growth and Proliferationproliferation of cholangiocarcinoma cell lines 2,07E-02 TP63 1

Page 105: s3-eu-west-1.amazonaws.com · Web viewfibrous dysplasia 5,79E-04 FGFR1, GNAS 2 Cellular Function and Maintenance internalization of Staphylococcus aureus 5,79E-04 CSK, SRC 2 Cell

Cancer, Cellular Development, Cellular Growth and Proliferation, Tumor Morphology proliferation of head and neck tumor 2,07E-02 EGFR 1

Cardiovascular System Development and Function, Cellular Development, Cellular Growth and Proliferation, Skeletal and Muscular System Development and Function, Tissue Development proliferation of ventricular myocytes 2,07E-02 EGFR 1

Reproductive System Development and Function, Tissue Morphology quantity of breast cell lines 2,07E-02 EGFR 1

Cell-To-Cell Signaling and Interaction, Molecular Transport, Small Molecule Biochemistry secretion of acetylcholine 2,07E-02 CACNA1A 1

Cell Cycle senescence of epithelial cell lines 2,07E-02 EGFR 1

Cell Cycle senescence of lung cancer cell lines 2,07E-02 EGFR 1

Cancer, Tumor Morphology transformation of tumor 2,07E-02 EGFR 1

Cell Cycle arrest in G1 phase 2,10E-02 EGFR, LRWD1, TP63 3

Organ Morphology, Skeletal and Muscular System Development and Function size of bone 2,10E-02 DDR2, FAM20C, PKDCC 3

Cell Cycle arrest in interphase of tumor cell lines 2,18E-02 AMACR, EGFR, TP63 3

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Complete list of diseases and functions for state-like genes