Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		1.000 Biomarker GENOMICS_ENGLAND Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. 27250579

2016
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		1.000 Biomarker GENOMICS_ENGLAND De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654

2016
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		1.000 Biomarker GENOMICS_ENGLAND A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias. 21734179

2011
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		1.000 Biomarker GENOMICS_ENGLAND Mutations in the 1A-subunit of the brain P/Q-type calcium channel gene CACNA1A are responsible for spinocerebellar ataxia type 6 (SCA6), familial haemiplegic migraine (FHM) and episodic ataxia type 2 (EA2). 19182766

2009
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		1.000 Biomarker GENOMICS_ENGLAND Primary episodic ataxias: diagnosis, pathogenesis and treatment. 17575281

2007
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		1.000 Biomarker GENOMICS_ENGLAND Primary episodic ataxias: diagnosis, pathogenesis and treatment. 17575281

2007
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		1.000 Biomarker GENOMICS_ENGLAND Expanding the phenotypic spectrum of the CACNA1A gene T666M mutation: a description of 5 families with familial hemiplegic migraine. 12756131

2003