Disease table of FOCAL FACIAL DERMAL DYSPLASIA OMIM ID: PS136500

Gene-disease associations table

GeneAssociated with FOCAL FACIAL DERMAL DYSPLASIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
TWIST2ClinVar, OMIM, HUMSAVARHGNC link2q37.33PS136500, 200110, 209885
CYP26C1ClinVar, OMIMHGNC link10q23.331PS136500

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
TWIST2YES25ATM, AKR1C2, GDF15, POSTN, FN1, RBL2, NR2F1, MYB, RAP1A, FOS, RUNX2, ITGB1, CD44, ERBB3, DKK1, F2R, CDH1, NF1, CDH2, ICAM1, ILK, PFDN4, MMP2, CTPS1, SRPX0
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
TWIST2YES2STAT3, HIF1A0
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
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
organic cyclic compound binding (GO:0097159) 1.052CYP26C1, TWIST2
binding (GO:0005488) 0.182CYP26C1, TWIST2
heterocyclic compound binding (GO:1901363) 1.062CYP26C1, TWIST2
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.362CYP26C1, TWIST2
primary metabolic process (GO:0044238) 0.692CYP26C1, TWIST2
multicellular organismal process (GO:0032501) 1.452CYP26C1, TWIST2
single-multicellular organism process (GO:0044707) 1.782CYP26C1, TWIST2
cellular developmental process (GO:0048869) 1.822CYP26C1, TWIST2
cellular process (GO:0009987) 0.262CYP26C1, TWIST2
single-organism cellular process (GO:0044763) 0.652CYP26C1, TWIST2
cellular metabolic process (GO:0044237) 0.692CYP26C1, TWIST2
regulation of cellular process (GO:0050794) 0.52CYP26C1, TWIST2
single-organism developmental process (GO:0044767) 1.492CYP26C1, TWIST2
organic substance metabolic process (GO:0071704) 0.632CYP26C1, TWIST2
biological regulation (GO:0065007) 0.392CYP26C1, TWIST2
negative regulation of cellular process (GO:0048523) 1.412CYP26C1, TWIST2
metabolic process (GO:0008152) 0.582CYP26C1, TWIST2
negative regulation of biological process (GO:0048519) 1.332CYP26C1, TWIST2
regulation of biological process (GO:0050789) 0.452CYP26C1, TWIST2
single-organism process (GO:0044699) 0.482CYP26C1, TWIST2
anatomical structure development (GO:0048856) 1.582CYP26C1, TWIST2
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular part (GO:0044424) 0.282CYP26C1, TWIST2
cell part (GO:0044464) 0.112CYP26C1, TWIST2