Disease table of PIEBALD TRAIT OMIM ID: 172800

Gene-disease associations table

GeneAssociated with PIEBALD TRAIT inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SNAI2OMIMHGNC link8q11.212PS193500, 172800
KITClinVar, OMIM, HUMSAVARHGNC link4q125601626, 172800, 273300, 606764, 154800

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
SNAI2YES21PTN, JAG1, L1CAM, CDH2, MMP2, MET, CXCL12, CXCR4, MMP9, FZD1, CDH1, VDR, CD44, CXADR, UBE2D3, LPAR2, CTGF, NETO2, HPGD, MMP17, POU5F10
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
SNAI2YES14WT1, NCOR1, LEF1, RUNX2, TCF7, HDAC1, MTA1, HDAC2, TCF7L2, CREB1, EZH2, PER2, POU2F1, ESRRA0
KITYES4SP1, TFAP2A, MITF, RBMX0
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
SNAI2KITYesactivation6BMP4, KITLG, CXCL12, CDH1, MYB, FGF7

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
Adherens junction (hsa04520) NEW6.260.009SNAI2, KIT
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cation binding (GO:0043169) 1.42SNAI2, KIT
organic cyclic compound binding (GO:0097159) 1.052SNAI2, KIT
ion binding (GO:0043167) 1.362SNAI2, KIT
binding (GO:0005488) 0.182SNAI2, KIT
protein binding (GO:0005515) 0.462SNAI2, KIT
metal ion binding (GO:0046872) 1.412SNAI2, KIT
heterocyclic compound binding (GO:1901363) 1.062SNAI2, KIT
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
primary metabolic process (GO:0044238) 0.692SNAI2, KIT
regulation of primary metabolic process (GO:0080090) 1.082SNAI2, KIT
regulation of metabolic process (GO:0019222) 1.022SNAI2, KIT
regulation of response to stimulus (GO:0048583) 1.542SNAI2, KIT
signal transduction (GO:0007165) 1.282SNAI2, KIT
cell surface receptor signaling pathway (GO:0007166) 2.092SNAI2, KIT
cellular component organization or biogenesis (GO:0071840) 1.222SNAI2, KIT
cellular response to stimulus (GO:0051716) 1.972SNAI2, KIT
positive regulation of macromolecule metabolic process (GO:0010604) 1.812SNAI2, KIT
regulation of signal transduction (GO:0009966) 1.842SNAI2, KIT
cellular developmental process (GO:0048869) 1.822SNAI2, KIT
regulation of programmed cell death (GO:0043067) 2.492SNAI2, KIT
positive regulation of biological process (GO:0048518) 1.22SNAI2, KIT
negative regulation of biological process (GO:0048519) 1.332SNAI2, KIT
regulation of cell proliferation (GO:0042127) 2.412SNAI2, KIT
regulation of macromolecule metabolic process (GO:0060255) 1.082SNAI2, KIT
negative regulation of cell death (GO:0060548) 2.952SNAI2, KIT
regulation of RNA biosynthetic process (GO:2001141) 1.552SNAI2, KIT
response to organic substance (GO:0010033) 2.22SNAI2, KIT
system process (GO:0003008) 2.32SNAI2, KIT
single-multicellular organism process (GO:0044707) 1.782SNAI2, KIT
cell motility (GO:0048870) 3.022SNAI2, KIT
positive regulation of metabolic process (GO:0009893) 1.742SNAI2, KIT
regulation of anatomical structure morphogenesis (GO:0022603) 2.792SNAI2, KIT
movement of cell or subcellular component (GO:0006928) 2.612SNAI2, KIT
nitrogen compound metabolic process (GO:0006807) 1.132SNAI2, KIT
regulation of biological process (GO:0050789) 0.452SNAI2, KIT
cellular macromolecule metabolic process (GO:0044260) 0.932SNAI2, KIT
cellular component organization (GO:0016043) 1.242SNAI2, KIT
biological regulation (GO:0065007) 0.392SNAI2, KIT
cell migration (GO:0016477) 3.122SNAI2, KIT
positive regulation of cellular component organization (GO:0051130) 2.682SNAI2, KIT
regulation of developmental process (GO:0050793) 2.12SNAI2, KIT
regulation of biosynthetic process (GO:0009889) 1.372SNAI2, KIT
cell development (GO:0048468) 3.282SNAI2, KIT
regulation of cellular process (GO:0050794) 0.52SNAI2, KIT
metabolic process (GO:0008152) 0.582SNAI2, KIT
regulation of intracellular signal transduction (GO:1902531) 2.312SNAI2, KIT
response to stimulus (GO:0050896) 1.222SNAI2, KIT
positive regulation of protein modification process (GO:0031401) 2.72SNAI2, KIT
regulation of transcription, DNA-templated (GO:0006355) 1.562SNAI2, KIT
regulation of macromolecule biosynthetic process (GO:0010556) 1.432SNAI2, KIT
regulation of cell motility (GO:2000145) 3.162SNAI2, KIT
positive regulation of cell motility (GO:2000147) 3.742SNAI2, KIT
regulation of multicellular organismal process (GO:0051239) 1.872SNAI2, KIT
response to radiation (GO:0009314) 3.692SNAI2, KIT
cell differentiation (GO:0030154) 2.142SNAI2, KIT
regulation of cellular component organization (GO:0051128) 2.012SNAI2, KIT
cellular response to chemical stimulus (GO:0070887) 2.572SNAI2, KIT
regulation of signaling (GO:0023051) 1.722SNAI2, KIT
regulation of cell communication (GO:0010646) 1.732SNAI2, KIT
single-organism process (GO:0044699) 0.482SNAI2, KIT
response to endogenous stimulus (GO:0009719) 2.792SNAI2, KIT
regulation of protein metabolic process (GO:0051246) 1.932SNAI2, KIT
positive regulation of protein metabolic process (GO:0051247) 2.432SNAI2, KIT
positive regulation of cellular protein metabolic process (GO:0032270) 2.492SNAI2, KIT
regulation of protein modification process (GO:0031399) 2.322SNAI2, KIT
developmental process (GO:0032502) 1.362SNAI2, KIT
multicellular organismal process (GO:0032501) 1.452SNAI2, KIT
positive regulation of cellular component movement (GO:0051272) 3.712SNAI2, KIT
neurological system process (GO:0050877) 2.642SNAI2, KIT
cellular process (GO:0009987) 0.262SNAI2, KIT
regulation of nucleic acid-templated transcription (GO:1903506) 1.552SNAI2, KIT
positive regulation of cell differentiation (GO:0045597) 3.012SNAI2, KIT
regulation of cell differentiation (GO:0045595) 2.422SNAI2, KIT
regulation of locomotion (GO:0040012) 3.122SNAI2, KIT
regulation of localization (GO:0032879) 1.942SNAI2, KIT
pigmentation (GO:0043473) 5.92SNAI2, KIT
regulation of cellular protein metabolic process (GO:0032268) 1.992SNAI2, KIT
regulation of RNA metabolic process (GO:0051252) 1.522SNAI2, KIT
macromolecule metabolic process (GO:0043170) 0.832SNAI2, KIT
cellular response to endogenous stimulus (GO:0071495) 3.332SNAI2, KIT
regulation of cellular biosynthetic process (GO:0031326) 1.382SNAI2, KIT
positive regulation of cellular metabolic process (GO:0031325) 1.812SNAI2, KIT
regulation of cellular metabolic process (GO:0031323) 1.072SNAI2, KIT
regulation of cell death (GO:0010941) 2.432SNAI2, KIT
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462SNAI2, KIT
organic substance metabolic process (GO:0071704) 0.632SNAI2, KIT
cellular response to organic substance (GO:0071310) 2.782SNAI2, KIT
negative regulation of programmed cell death (GO:0043069) 3.022SNAI2, KIT
regulation of gene expression (GO:0010468) 1.372SNAI2, KIT
positive regulation of cell migration (GO:0030335) 3.772SNAI2, KIT
regulation of cell migration (GO:0030334) 3.232SNAI2, KIT
regulation of lipid metabolic process (GO:0019216) 4.082SNAI2, KIT
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432SNAI2, KIT
single-organism developmental process (GO:0044767) 1.492SNAI2, KIT
single-organism cellular process (GO:0044763) 0.652SNAI2, KIT
regulation of nitrogen compound metabolic process (GO:0051171) 1.362SNAI2, KIT
response to chemical (GO:0042221) 1.982SNAI2, KIT
locomotion (GO:0040011) 2.912SNAI2, KIT
response to abiotic stimulus (GO:0009628) 2.82SNAI2, KIT
regulation of cellular component movement (GO:0051270) 3.082SNAI2, KIT
positive regulation of locomotion (GO:0040017) 3.712SNAI2, KIT
anatomical structure development (GO:0048856) 1.582SNAI2, KIT
cellular metabolic process (GO:0044237) 0.692SNAI2, KIT
regulation of cellular component biogenesis (GO:0044087) 3.082SNAI2, KIT
regulation of multicellular organismal development (GO:2000026) 2.312SNAI2, KIT
negative regulation of cellular process (GO:0048523) 1.412SNAI2, KIT
positive regulation of cellular process (GO:0048522) 1.32SNAI2, KIT

NET-GE enrichment

Term New enriched termICP valueGenes
pigmentation (GO:0043473) -5.90.002SNAI2, KIT
positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068) NEW5.590.034SNAI2, KIT
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.012SNAI2, KIT
intracellular membrane-bounded organelle (GO:0043231) 0.62SNAI2, KIT
cell part (GO:0044464) 0.112SNAI2, KIT
intracellular organelle (GO:0043229) 0.512SNAI2, KIT
intracellular part (GO:0044424) 0.282SNAI2, KIT
membrane-bounded organelle (GO:0043227) 0.472SNAI2, KIT
organelle (GO:0043226) 0.42SNAI2, KIT