Disease: nervous system disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 GeneticVariation group BEFREE Mutations in the CACNA1A gene, encoding the pore-forming CaV2.1 (P/Q-type) channel α1A subunit, localized at presynaptic terminals of brain and cerebellar neurons, result in clinically variable neurological disorders including hemiplegic migraine (HM) and episodic or progressive adult-onset ataxia (EA2, SCA6). 28007337 2017
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 Biomarker group BEFREE CACNA1A related disorders manifest as a wide spectrum of paroxysmal neurological disorders: episodic ataxia 2, hemiplegic migraine, benign paroxysmal torticollis of infancy, and paroxysmal vertigo. 25596066 2015
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 GeneticVariation group BEFREE Familial hemiplegic migraine type 1, episodic ataxia type 2, and spinocerebellar ataxia type 6 are distinct neurological disorders associated with mutations in the CACNA1A gene. 25266619 2014
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 GeneticVariation group BEFREE The CACNA1A gene, encoding the voltage-gated calcium channel subunit α1A, is involved in pre- and postsynaptic Ca(2+) signaling, gene expression, and several genetic neurological disorders. 23827678 2013
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 GeneticVariation group BEFREE Mutations in the calcium channel voltage dependent P/Q-type alpha-1A subunit (CACNA1A) can cause different neurological disorders which share a wide range of symptoms, including episodic ataxia type 2 (EA2), familial hemiplegic migraine (FHM1) and progressive spinocerebellar ataxia (SCA6). 20682717 2010
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 GeneticVariation group BEFREE Mutations in the CACNA1A gene that encodes the pore-forming alpha1 subunit of human voltage-gated CaV2.1 (P/Q-type) Ca2+ channels cause several autosomal-dominant neurologic disorders, including familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2, and spinocerebellar ataxia type 6 (SCA6). 20204399 2010
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 Biomarker group BEFREE These results indicate that knock down of Ca(v)2.1 quantity to 13.8+/-3.3% of the wild-type level are sufficient to induce the all neurological disorders observed in natural occurring Cacna1a mutants. 19854154 2009
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 GeneticVariation group BEFREE Mutations at the mouse orthologue of the CACNA1A gene cause a group of recessive neurological disorders, including the tottering, leaner, and rocker phenotypes with ataxia and absence epilepsy, and the rolling Nagoya phenotype with ataxia without seizures. 11890456 2002
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 GeneticVariation group BEFREE Mutations of the P/Q type calcium channel alpha 1 subunit (CACNA1A) gene on chromosome 19p13 have been shown to cause several neurological disorders with a wide clinical spectrum, mainly episodic diseases. 11843866 2001
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 GeneticVariation group BEFREE Mutations in the CACNA1A calcium channel subunit gene on chromosome 19 are associated with a wide spectrum of mutation-specific episodic and chronic neurological disorders, including FHM with or without coma. 11409427 2001
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 GeneticVariation group BEFREE The gene CACNL1A4, encoding the principal (alpha1A) subunit of this calcium channel, is mutated in several inherited neurological disorders. 10674974 1999