Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.740 Biomarker disease BEFREE TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature. 26948711 2017
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.740 Biomarker disease CTD_human Axonal neuropathy-associated TRPV4 regulates neurotrophic factor-derived axonal growth. 22187434 2012
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.740 GeneticVariation disease BEFREE Similarly, heterozygous missense mutations of TRPV4 cause a spectrum of peripheral neuropathy, including hereditary motor and sensory neuropathy type IIC, congenital spinal muscular atrophy, and scapuloperoneal spinal muscular atrophy. 22419508 2012
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.740 GeneticVariation disease UNIPROT Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel. 22702953 2012
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.740 GeneticVariation disease BEFREE Here we report that SPSMA and CMT2C are allelic disorders caused by mutations in the gene encoding the transient receptor potential cation channel, subfamily V, member 4 (TRPV4). 20037587 2010
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.740 GermlineCausalMutation disease ORPHANET Functional analysis revealed that increased calcium channel activity is a distinct property of both SPSMA- and CMT2C-causing mutant proteins. 20037587 2010
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.740 Biomarker disease CTD_human Functional analysis revealed that increased calcium channel activity is a distinct property of both SPSMA- and CMT2C-causing mutant proteins. 20037587 2010
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.740 Biomarker disease CTD_human Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. 20037588 2010
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.740 GeneticVariation disease UNIPROT Functional analysis revealed that increased calcium channel activity is a distinct property of both SPSMA- and CMT2C-causing mutant proteins. 20037587 2010
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.740 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
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.740 CausalMutation disease CLINVAR
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.740 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 6606
Gene Symbol: SMN1
SMN1 		0.300 Biomarker disease CTD_human Oxidative Stress Triggers Body-Wide Skipping of Multiple Exons of the Spinal Muscular Atrophy Gene. 27111068 2016
Entrez Id: 6606
Gene Symbol: SMN1
SMN1 		0.300 Biomarker disease CTD_human Discovery, synthesis, and biological evaluation of novel SMN protein modulators. 21819082 2011
Entrez Id: 6606
Gene Symbol: SMN1
SMN1 		0.300 Biomarker disease CTD_human Disruption of the Survival Motor Neuron (SMN) gene in pigs using ssDNA. 21350916 2011
Entrez Id: 6607
Gene Symbol: SMN2
SMN2 		0.300 Therapeutic disease CTD_human Disruption of the Survival Motor Neuron (SMN) gene in pigs using ssDNA. 21350916 2011
Entrez Id: 6606
Gene Symbol: SMN1
SMN1 		0.300 Biomarker disease CTD_human Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo. 19150990 2009
Entrez Id: 6606
Gene Symbol: SMN1
SMN1 		0.300 Biomarker disease CTD_human Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin-induced cell death. 15862279 2005