Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
CUI: C0432227
Disease: Brachyolmia Type 3
Brachyolmia Type 3 		0.760 GermlineCausalMutation ORPHANET Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. 18587396

2008