Disease: Scapuloperoneal Form of Spinal Muscular Atrophy ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751335
Disease: Scapuloperoneal Form of Spinal Muscular Atrophy
Scapuloperoneal Form of Spinal Muscular Atrophy 		0.740 Biomarker disease CTD_human Axonal neuropathy-associated TRPV4 regulates neurotrophic factor-derived axonal growth. 22187434 2012
CUI: C0751335
Disease: Scapuloperoneal Form of Spinal Muscular Atrophy
Scapuloperoneal Form of Spinal Muscular Atrophy 		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
CUI: C0751335
Disease: Scapuloperoneal Form of Spinal Muscular Atrophy
Scapuloperoneal Form of Spinal Muscular Atrophy 		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
CUI: C0751335
Disease: Scapuloperoneal Form of Spinal Muscular Atrophy
Scapuloperoneal Form of Spinal Muscular Atrophy 		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
CUI: C0751335
Disease: Scapuloperoneal Form of Spinal Muscular Atrophy
Scapuloperoneal Form of Spinal Muscular Atrophy 		0.740 Biomarker disease CTD_human Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. 20037588 2010
CUI: C0751335
Disease: Scapuloperoneal Form of Spinal Muscular Atrophy
Scapuloperoneal Form of Spinal Muscular Atrophy 		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
CUI: C0751335
Disease: Scapuloperoneal Form of Spinal Muscular Atrophy
Scapuloperoneal Form of Spinal Muscular Atrophy 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C0751335
Disease: Scapuloperoneal Form of Spinal Muscular Atrophy
Scapuloperoneal Form of Spinal Muscular Atrophy 		0.740 Biomarker disease GENOMICS_ENGLAND