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: rs121434226
rs121434226
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C1837213
Disease:
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO 		A 0.700 CausalMutation CLINVAR Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability. 25548624 2014
dbSNP: rs121434226
rs121434226
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C1837213
Disease:
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO 		A 0.700 CausalMutation CLINVAR EEC syndrome-like phenotype in a patient with an IRF6 mutation. 22488974 2012
dbSNP: rs121434226
rs121434226
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C1837213
Disease:
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO 		A 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: rs121434226
rs121434226
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C1837213
Disease:
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO 		A 0.700 CausalMutation CLINVAR A familial case of popliteal pterygium syndrome. 18617879 2008