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: rs387906968
rs387906968
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0265259
Disease:
Popliteal pterygium syndrome 		0.810 GeneticVariation BEFREE To further investigate the IRF6 mutation profile in PPS, we performed mutation analysis of patients from two unrelated Japanese families with PPS and identified mutations in IRF6: c.251G>T (R84L) and c.1271C>T (S424L). 20803643 2010
dbSNP: rs387906968
rs387906968
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0265259
Disease:
Popliteal pterygium syndrome 		0.810 GeneticVariation UNIPROT To further investigate the IRF6 mutation profile in PPS, we performed mutation analysis of patients from two unrelated Japanese families with PPS and identified mutations in IRF6: c.251G>T (R84L) and c.1271C>T (S424L). 20803643 2010
dbSNP: rs387906968
rs387906968
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0265259
Disease:
Popliteal pterygium syndrome 		0.810 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: rs387906968
rs387906968
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0265259
Disease:
Popliteal pterygium syndrome 		0.810 GeneticVariation UNIPROT Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal pterygium. 14640121 2003
dbSNP: rs387906968
rs387906968
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0265259
Disease:
Popliteal pterygium syndrome 		0.810 GeneticVariation UNIPROT Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. 12219090 2002
dbSNP: rs387906968
rs387906968
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0265259
Disease:
Popliteal pterygium syndrome 		A 0.810 CausalMutation CLINVAR