Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.450 GeneticVariation disease BEFREE Recently, TRPV4 mutation has also been identified in a spectrum of neuromuscular diseases that includes congenital distal spinal muscular atrophy (SMA), scapuloperoneal SMA, and hereditary motor and sensory neuropathy type IIC. 20505684 2010
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.430 GeneticVariation disease BEFREE To evaluate, by skin biopsy, dermal nerve fibers in 31 patients with 3 common Charcot-Marie-Tooth (CMT) genotypes (CMT1A, late-onset CMT1B, and CMTX1), and rarer forms of CMT caused by mutations in RAB7 (CMT2B), TRPV4 (CMT2C), and GDAP1 (AR-CMT2K) genes. 26362287 2015
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.430 GeneticVariation disease BEFREE TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies. 21288981 2011
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.430 Biomarker disease BEFREE Hereditary motor and sensory neuropathy type 2C (HMSN2C, Charcot-Marie-Tooth 2C [CMT2C]) is an autosomal dominant motor and sensory neuropathy involving limb, diaphragm, vocal cord, and intercostal muscles. 12682323 2003
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia 		0.410 GeneticVariation disease BEFREE TRPV4 mutation was first identified in brachyolmia, and then in a spectrum of autosomal-dominant skeletal dysplasias, which includes Kozlowski type of spondylometaphyseal dysplasia, metatropic dysplasia, Maroteaux type of spondyloepiphyseal dysplasia and parastremmatic dysplasia. 20505684 2010
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia 		0.380 Biomarker phenotype BEFREE The TRPV1 antagonist capsazepine, the selective TRPV4 antagonist HC-067047 and the calcium ions inhibitor ruthenium red were used to treat thermal and/or mechanical hyperalgesia. 29637027 2018
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia 		0.380 AlteredExpression phenotype BEFREE In conclusion, overexpression of TRPM3 and TRPV4 can jointly mediate the occurrence of mechanical hyperalgesia in TN. 31116130 2019
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia 		0.380 Biomarker phenotype BEFREE The selective TRPV4 channel antagonist HC-067047 attenuates mechanical allodynia in diabetic mice. 31129158 2019
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia 		0.380 Biomarker phenotype BEFREE Intraplantar injection of PAR2 agonist caused mechanical hyperalgesia in mice and sensitized pain responses to the TRPV4 agonists 4alphaPDD and hypotonic solutions. 17124270 2007
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia 		0.380 GeneticVariation phenotype BEFREE Among them there are TRP canonical 6 (TRPC6) and TRP vanilloid 4 (TRPV4) ion channels, which are known to cooperate in mechanical hyperalgesia. 27874267 2017
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia 		0.380 AlteredExpression phenotype BEFREE PAR2 causes receptor-operated activation of TRPV4 channels and TRPV4 null mice have attenuated PAR2-stimulated neurogenic inflammation and mechanical hyperalgesia. 24779362 2014
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia 		0.380 Biomarker phenotype BEFREE These results suggest that prostanoids and PAR2 activation elicit TRPV1- and TRPA1-mediated spontaneous pain and TRPV4-mediated mechanical allodynia, respectively, independently of bacterial infection, following oral mucosal trauma. 28381109 2017
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia 		0.380 Biomarker phenotype BEFREE Additionally, BK was able to sensitize TRPV4, thus contributing to mechanical hyperalgesia. 28283888 2018
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
Distal Spinal Muscular Atrophy 		0.350 GeneticVariation disease BEFREE Adding to the clinical and molecular heterogeneity of TRPV4-associated diseases, our results suggest that molecular testing of the TRPV4 gene is warranted in cases of congenital dSMA with bone abnormalities and vocal cord paralysis. 22526352 2012
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
Distal Spinal Muscular Atrophy 		0.350 GeneticVariation disease BEFREE Recently, TRPV4 mutation has also been identified in a spectrum of neuromuscular diseases that includes congenital distal spinal muscular atrophy (SMA), scapuloperoneal SMA, and hereditary motor and sensory neuropathy type IIC. 20505684 2010
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
Distal Spinal Muscular Atrophy 		0.350 Biomarker disease BEFREE The gene for HMSN2C maps to 12q23-24.This region is associated with SCA2, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy. 12682323 2003
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
Distal Spinal Muscular Atrophy 		0.350 GeneticVariation disease BEFREE Mutations in TRPV4 are linked to a group of clinically distinct, but also overlapping axonal neuropathies, including Charcot-Marie-Tooth disease type 2C (CMT2C), scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy. 31468327 2020
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
Distal Spinal Muscular Atrophy 		0.350 GeneticVariation disease BEFREE Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy). 21964829 2011
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.340 AlteredExpression disease BEFREE At the protein level, TRPV4 was over expressed in early OA sfMPCs, while KCNJ12 and KCNMA1 were unchanged between normal and early OA sfMPCs. 26632350 2016
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.340 Biomarker disease BEFREE Our recent results suggest that local injection of a TRPV4 agonist is a potential treatment for osteoarthritis (OA). 31622206 2019
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.340 AlteredExpression disease BEFREE TRPV4 was upregulated in ALCT-induced OA articular cartilage, and we found that administration of a TRPV4 inhibitor attenuated cartilage degeneration. 31055086 2019
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.340 Biomarker disease BEFREE Discovery of Novel Transient Receptor Potential Vanilloid 4 (TRPV4) Agonists as Regulators of Chondrogenic Differentiation: Identification of Quinazolin-4(3 H)-ones and in Vivo Studies on a Surgically Induced Rat Model of Osteoarthritis. 30629441 2019
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia 		0.330 Biomarker phenotype BEFREE Our findings suggest an important role of this phosphorylation in TRPV4 sensitization and the development of hyperalgesia. 20043876 2010
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia 		0.330 GeneticVariation phenotype BEFREE Phα1β did not affect calcium responses evoked by selective TRPV1 (capsaicin) or TRPV4 (GSK 1016790A) agonists on the various cell types.Intrathecal (i.t.) and intraplantar (i.pl.) administration of low doses of Phα1β (up to 300 pmol per paw) attenuated acute nociception and mechanical and cold hyperalgesia evoked by AITC (i.t. or i.pl.), without affecting responses produced by capsaicin or hypotonic solution. 27759880 2017
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia 		0.330 Biomarker phenotype BEFREE We studied the possible role of TRPV1 and TRPV4 in transducing cancer-induced hyperalgesia. 29637027 2018