DisGeNET - a database of gene-disease associations

SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder), C1838492

Variant: rs267607144 ×

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:

rs267607144

TRPV4

0.800

GeneticVariation

UNIPROT

TRPV4 mutations in children with congenital distal spinal muscular atrophy.

22526352

2012

dbSNP:

rs267607144

TRPV4

0.800

GeneticVariation

UNIPROT

Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel.

22702953

2012

dbSNP:

rs267607144

TRPV4

0.800

GeneticVariation

UNIPROT

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.

20037588

2010

dbSNP:

rs267607144

TRPV4

0.800

CausalMutation

CLINVAR