Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Magnetic resonance imaging in familial paroxysmal ataxia. | 3358708 | 1988 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Familial paroxysmal ataxia: report of a family. | 1564484 | 1992 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. | 8898206 | 1996 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. | 9302278 | 1997 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. | 8988170 | 1997 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p. | 9005860 | 1997 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. | 9403487 | 1997 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia. | 9559993 | 1998 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds. | 9436730 | 1998 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls. | 9879686 | 1998 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. | 11723274 | 2001 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2. | 11179022 | 2001 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel. | 11564488 | 2001 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family. | 12707077 | 2003 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Clinical spectrum of episodic ataxia type 2. | 14718690 | 2004 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia. | 15483044 | 2004 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2. | 15300451 | 2004 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. | 15710862 | 2005 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | New calcium channel mutations predict aberrant RNA splicing in episodic ataxia. | 16043807 | 2005 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. | 16325861 | 2006 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity. | 16595610 | 2006 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Primary episodic ataxias: diagnosis, pathogenesis and treatment. | 17575281 | 2007 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Migraine: gene mutations and functional consequences. | 17495624 | 2007 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | The genetic spectrum of a population-based sample of familial hemiplegic migraine. | 17142831 | 2007 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Stepwise developmental regression associated with novel CACNA1A mutation. | 18940563 | 2008 |