Disease: SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876661124
rs876661124
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C1838492
Disease:
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder) 		0.700 GeneticVariation UNIPROT TRPV4 mutations in children with congenital distal spinal muscular atrophy. 22526352 2012
dbSNP: rs876661124
rs876661124
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C1838492
Disease:
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder) 		0.700 GeneticVariation UNIPROT Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel. 22702953 2012
dbSNP: rs876661124
rs876661124
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C1838492
Disease:
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder) 		0.700 GeneticVariation UNIPROT Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. 20037588 2010