DisGeNET - a database of gene-disease associations

ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1, C3150807

Variant: rs387907014 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs387907014

rs387907014

NECTIN4

0.710

GeneticVariation

BEFREE

Sequence analysis revealed a homozygous missense mutation (c.635C>G; p.Pro212Arg) in the recently reported PVRL4 gene causing EDSS1.

2011

dbSNP:

rs387907014

rs387907014

NECTIN4

C

0.710

CausalMutation

CLINVAR