IRF6, interferon regulatory factor 6, 3664

N. diseases: 233; N. variants: 43
Disease: Lip pit ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0341059
Disease: Lip pit
Lip pit 		0.420 GeneticVariation disease BEFREE Like IRF6 and GRHL3, rare variants in TFAP2A can also lead to syndromic orofacial clefting with lip pits (branchio-oculo-facial syndrome). 26332872 2016
CUI: C0341059
Disease: Lip pit
Lip pit 		0.420 GeneticVariation disease BEFREE Mutations in the interferon regulatory factor 6 (IRF6) gene are known to cause van der Woude syndrome (VWS), a common syndromic form of oro-facial clefting characterized by the familial occurrence of mixed clefting (cleft lip with or without a cleft palate and cleft palate alone in the same family) and lower lip pits. 21082654 2010
CUI: C0341059
Disease: Lip pit
Lip pit 		0.420 Biomarker disease HPO
CUI: C0341059
Disease: Lip pit
Lip pit 		0.420 Biomarker disease GENOMICS_ENGLAND