Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 GermlineCausalMutation disease ORPHANET Phenotypic variability in a Spanish family with a Caveolin-3 mutation. 18930476 2009
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 GeneticVariation disease UNIPROT Molecular and muscle pathology in a series of caveolinopathy patients. 15580566 2005
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 GermlineCausalMutation disease ORPHANET Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. 11805270 2002
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 GeneticVariation disease UNIPROT Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. 11805270 2002
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 CausalMutation disease CLINVAR
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 Biomarker disease CTD_human
Entrez Id: 51066
Gene Symbol: SSUH2
SSUH2 		0.100 CausalMutation disease CLINVAR