rs1553247595, IRF6

N. diseases: 3
Disease: OROFACIAL CLEFT 6, SUSCEPTIBILITY TO ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
CUI: C1837213
Disease: OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions. 25784454 2015
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
CUI: C1837213
Disease: OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases. 23154523 2013
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
CUI: C1837213
Disease: OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. 19282774 2009
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
CUI: C1837213
Disease: OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. 12219090 2002