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 GeneticVariation phenotype UNIPROT Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. 10746614 2000
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 GeneticVariation phenotype UNIPROT A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia. 15099591 2004
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 GeneticVariation phenotype UNIPROT Molecular and muscle pathology in a series of caveolinopathy patients. 15580566 2005
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 GeneticVariation phenotype UNIPROT A CAV3 microdeletion differentially affects skeletal muscle and myocardium. 14663034 2003
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 GeneticVariation phenotype UNIPROT Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene. 12082049 2002
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 26092
Gene Symbol: TOR1AIP1
TOR1AIP1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1756
Gene Symbol: DMD
DMD 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 Biomarker phenotype CTD_human
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 Biomarker phenotype GENOMICS_ENGLAND
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		0.700 Biomarker phenotype HPO
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		0.100 Biomarker phenotype HPO
Entrez Id: 2969
Gene Symbol: GTF2I
GTF2I 		0.100 Biomarker phenotype HPO
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		0.100 Biomarker phenotype HPO
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		0.100 Biomarker phenotype HPO
Entrez Id: 3939
Gene Symbol: LDHA
LDHA 		0.100 Biomarker phenotype HPO
Entrez Id: 4744
Gene Symbol: NEFH
NEFH 		0.100 Biomarker phenotype HPO
Entrez Id: 4624
Gene Symbol: MYH6
MYH6 		0.100 Biomarker phenotype HPO
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		0.100 Biomarker phenotype HPO