rs121912633, TRPV4

N. diseases: 10
Disease: Brachyolmia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Brachyolmia
CUI: C0432228
Disease: Brachyolmia
0.010 GeneticVariation BEFREE We generated a mouse model of the TRPV4(V620I) mutation, and found significant skeletal deformities (e.g., shortening of tibiae and digits, similar to the human disease brachyolmia) and increases in Fst/TRPV4 mRNA levels (2.8-fold). 24577120 2014