Disease: POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906921
rs387906921
Entrez Id: 54101
Gene Symbol: RIPK4
RIPK4
CUI: C1849718
Disease:
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE 		0.710 GeneticVariation BEFREE Collectively, our findings provide important mechanistic insight into how the p.Arg412X and p.Ser376X mutations may cause VWS and BPS, respectively. 25784454 2015
dbSNP: rs387906921
rs387906921
Entrez Id: 54101
Gene Symbol: RIPK4
RIPK4
CUI: C1849718
Disease:
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE 		T 0.710 CausalMutation CLINVAR