IRF6, interferon regulatory factor 6, 3664

N. diseases: 233; N. variants: 43
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434227
rs121434227
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: rs121434227
rs121434227
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0265259
Disease:
Popliteal pterygium syndrome 		T 0.810 CausalMutation CLINVAR
dbSNP: rs121434227
rs121434227
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0265259
Disease:
Popliteal pterygium syndrome 		A 0.810 CausalMutation CLINVAR
dbSNP: rs121434227
rs121434227
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: rs121434227
rs121434227
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: rs121434227
rs121434227
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: rs121434227
rs121434227
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 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 		A 0.810 CausalMutation CLINVAR
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 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 Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. 12219090 2002
dbSNP: rs121434226
rs121434226
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0265259
Disease:
Popliteal pterygium syndrome 		A 0.800 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: 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: rs121434226
rs121434226
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0265259
Disease:
Popliteal pterygium syndrome 		A 0.800 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: C0265259
Disease:
Popliteal pterygium syndrome 		A 0.800 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: C0265259
Disease:
Popliteal pterygium syndrome 		0.800 GeneticVariation UNIPROT Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. 12219090 2002
dbSNP: rs121434226
rs121434226
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: rs121434226
rs121434226
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
CUI: C0265259
Disease:
Popliteal pterygium syndrome 		A 0.800 CausalMutation CLINVAR A familial case of popliteal pterygium syndrome. 18617879 2008
dbSNP: rs121434226
rs121434226
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: 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 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 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 Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. 12219090 2002