IRF6, interferon regulatory factor 6, 3664

N. diseases: 233; N. variants: 43
Disease: OROFACIAL CLEFT 6, SUSCEPTIBILITY TO ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553247774
rs1553247774
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C1837213
Disease:
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO 		T 0.700 CausalMutation CLINVAR IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign. 21045959 2010
dbSNP: rs1553247774
rs1553247774
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C1837213
Disease:
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO 		T 0.700 CausalMutation CLINVAR Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6. 19036739 2009
dbSNP: rs1553247774
rs1553247774
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C1837213
Disease:
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO 		T 0.700 CausalMutation CLINVAR Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome. 16160700 2005
dbSNP: rs1553247774
rs1553247774
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C1837213
Disease:
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO 		T 0.700 CausalMutation CLINVAR Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. 12219090 2002