DisGeNET - a database of gene-disease associations

NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4, C3277900

Variant: rs74315421 ×

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:

rs74315421

rs74315421

RSPO4

0.800

GeneticVariation

UNIPROT

The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.

2006

dbSNP:

rs74315421

rs74315421

RSPO4

G

0.800

CausalMutation

CLINVAR