IRF6, interferon regulatory factor 6, 3664

N. diseases: 233; N. variants: 43
Disease: VAN DER WOUDE SYNDROME 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434229
rs121434229
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C4551864
Disease:
VAN DER WOUDE SYNDROME 1 		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: rs121434229
rs121434229
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C4551864
Disease:
VAN DER WOUDE SYNDROME 1 		0.800 GeneticVariation UNIPROT A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia. 18478600 2008
dbSNP: rs121434229
rs121434229
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C4551864
Disease:
VAN DER WOUDE SYNDROME 1 		0.800 GeneticVariation UNIPROT A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis. 17122170 2006
dbSNP: rs121434229
rs121434229
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C4551864
Disease:
VAN DER WOUDE SYNDROME 1 		0.800 GeneticVariation UNIPROT Gene symbol: IRF6. Disease: Van der Woude syndrome. 15300989 2004
dbSNP: rs121434229
rs121434229
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C4551864
Disease:
VAN DER WOUDE SYNDROME 1 		0.800 GeneticVariation UNIPROT Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal pterygium. 14640121 2003
dbSNP: rs121434229
rs121434229
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C4551864
Disease:
VAN DER WOUDE SYNDROME 1 		0.800 GeneticVariation UNIPROT Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion. 14618417 2003
dbSNP: rs121434229
rs121434229
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C4551864
Disease:
VAN DER WOUDE SYNDROME 1 		0.800 GeneticVariation UNIPROT Novel mutations in the IRF6 gene for Van der Woude syndrome. 12920575 2003
dbSNP: rs121434229
rs121434229
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C4551864
Disease:
VAN DER WOUDE SYNDROME 1 		0.800 GeneticVariation UNIPROT Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. 12219090 2002
dbSNP: rs121434229
rs121434229
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C4551864
Disease:
VAN DER WOUDE SYNDROME 1 		T 0.800 CausalMutation CLINVAR