NECTIN4, nectin cell adhesion molecule 4, 81607

N. diseases: 77; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606992
rs267606992
Entrez Id: 81607
Gene Symbol: NECTIN4
NECTIN4
CUI: C3150807
Disease:
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 		0.800 GeneticVariation UNIPROT Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. 20691405 2010
dbSNP: rs267606992
rs267606992
Entrez Id: 81607
Gene Symbol: NECTIN4
NECTIN4
CUI: C3150807
Disease:
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs387907014
rs387907014
Entrez Id: 81607
Gene Symbol: NECTIN4
NECTIN4
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
dbSNP: rs387907014
rs387907014
Entrez Id: 81607
Gene Symbol: NECTIN4
NECTIN4
CUI: C3150807
Disease:
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 		C 0.710 CausalMutation CLINVAR
dbSNP: rs1085307124
rs1085307124
Entrez Id: 81607
Gene Symbol: NECTIN4
NECTIN4
CUI: C3150807
Disease:
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1085307125
rs1085307125
Entrez Id: 81607
Gene Symbol: NECTIN4
NECTIN4
CUI: C3150807
Disease:
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs267606991
rs267606991
Entrez Id: 81607
Gene Symbol: NECTIN4
NECTIN4
CUI: C3150807
Disease:
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs730880260
rs730880260
Entrez Id: 81607
Gene Symbol: NECTIN4
NECTIN4
CUI: C3150807
Disease:
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 		G 0.700 CausalMutation CLINVAR