rs121912633, TRPV4

N. diseases: 10
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Brachyolmia Type 3
CUI: C0432227
Disease: Brachyolmia Type 3
0.800 GeneticVariation UNIPROT Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. 18587396 2008
Brachyolmia Type 3
CUI: C0432227
Disease: Brachyolmia Type 3
0.800 CausalMutation CLINVAR
Neuromuscular Diseases
CUI: C0027868
Disease: Neuromuscular Diseases
0.700 CausalMutation CLINVAR
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
0.700 CausalMutation CLINVAR
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
CUI: C1853710
Disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
0.700 CausalMutation CLINVAR
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
Channelopathies
CUI: C1720983
Disease: Channelopathies
0.010 GeneticVariation BEFREE The human TRPV4(V620I) channelopathy mutation was transfected into primary porcine chondrocytes and caused significant (2.6-fold) up-regulation of follistatin (FST) expression levels. 24577120 2014
Wheezing
CUI: C0043144
Disease: Wheezing
0.010 GeneticVariation BEFREE Although none of the SNPs modified the risk of suffering from asthma, carriers of the TRPV1-I585V genetic variant showed a lower risk of current wheezing (odds ratio = 0.51; p = 0.01), a characteristic of active asthma, or cough (odds ratio = 0.57; p = 0.02). 20639579 2010
Childhood asthma
CUI: C0264408
Disease: Childhood asthma
0.010 GeneticVariation BEFREE We now report on the association of two functional SNPs, TRPV1-I585V and TRPV4-P19S, with childhood asthma. 20639579 2010
Coughing
CUI: C0010200
Disease: Coughing
0.010 GeneticVariation BEFREE Although none of the SNPs modified the risk of suffering from asthma, carriers of the TRPV1-I585V genetic variant showed a lower risk of current wheezing (odds ratio = 0.51; p = 0.01), a characteristic of active asthma, or cough (odds ratio = 0.57; p = 0.02). 20639579 2010
Asthma
CUI: C0004096
Disease: Asthma
0.010 GeneticVariation BEFREE Although none of the SNPs modified the risk of suffering from asthma, carriers of the TRPV1-I585V genetic variant showed a lower risk of current wheezing (odds ratio = 0.51; p = 0.01), a characteristic of active asthma, or cough (odds ratio = 0.57; p = 0.02). 20639579 2010