IRF6, interferon regulatory factor 6, 3664

N. diseases: 233; N. variants: 43
Disease: Popliteal pterygium syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906967
rs387906967
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0265259
Disease:
Popliteal pterygium syndrome 		0.800 GeneticVariation UNIPROT Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome. 20803643 2010
dbSNP: rs387906967
rs387906967
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0265259
Disease:
Popliteal pterygium syndrome 		0.800 GeneticVariation UNIPROT 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: rs387906967
rs387906967
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0265259
Disease:
Popliteal pterygium syndrome 		0.800 GeneticVariation UNIPROT Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal pterygium. 14640121 2003
dbSNP: rs387906967
rs387906967
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0265259
Disease:
Popliteal pterygium syndrome 		0.800 GeneticVariation UNIPROT Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. 12219090 2002
dbSNP: rs387906967
rs387906967
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0265259
Disease:
Popliteal pterygium syndrome 		G 0.800 CausalMutation CLINVAR