Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 859
Gene Symbol: CAV3
CAV3
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 GeneticVariation UNIPROT Molecular and muscle pathology in a series of caveolinopathy patients. 15580566

2005
Entrez Id: 859
Gene Symbol: CAV3
CAV3
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 GeneticVariation UNIPROT A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia. 15099591

2004
Entrez Id: 859
Gene Symbol: CAV3
CAV3
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 GeneticVariation UNIPROT A CAV3 microdeletion differentially affects skeletal muscle and myocardium. 14663034

2003
Entrez Id: 859
Gene Symbol: CAV3
CAV3
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 GeneticVariation UNIPROT Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene. 12082049

2002
Entrez Id: 859
Gene Symbol: CAV3
CAV3
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 GeneticVariation UNIPROT Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. 10746614

2000
Entrez Id: 859
Gene Symbol: CAV3
CAV3
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 Biomarker CTD_human

Entrez Id: 859
Gene Symbol: CAV3
CAV3
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 859
Gene Symbol: CAV3
CAV3
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 859
Gene Symbol: CAV3
CAV3
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 CausalMutation CLINVAR

Entrez Id: 859
Gene Symbol: CAV3
CAV3
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.700 Biomarker HPO

Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker HPO

Entrez Id: 2969
Gene Symbol: GTF2I
GTF2I
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker HPO

Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker HPO

Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker HPO

Entrez Id: 3939
Gene Symbol: LDHA
LDHA
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker HPO

Entrez Id: 4744
Gene Symbol: NEFH
NEFH
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker HPO

Entrez Id: 4624
Gene Symbol: MYH6
MYH6
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker HPO

Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 CausalMutation CLINVAR

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 GeneticVariation CLINVAR

Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker HPO

Entrez Id: 1376
Gene Symbol: CPT2
CPT2
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker HPO

Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker HPO

Entrez Id: 4572
Gene Symbol: TRNQ
TRNQ
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker HPO

Entrez Id: 285489
Gene Symbol: DOK7
DOK7
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 CausalMutation CLINVAR