rs387907014, NECTIN4

N. diseases: 1
Disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
CUI: C3150807
Disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
0.710 GeneticVariation BEFREE Sequence analysis revealed a homozygous missense mutation (c.635C>G; p.Pro212Arg) in the recently reported PVRL4 gene causing EDSS1. 21346770 2011
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
CUI: C3150807
Disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
0.710 CausalMutation CLINVAR