Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.010 GeneticVariation phenotype BEFREE This is the first report of EA2 in a Chinese family that carries a novel mutation in CACNA1A gene and had abdominal pain as a novel phenotype associated with EA2. 23441182 2013
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.100 Biomarker phenotype HPO
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		0.400 Biomarker phenotype HPO
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		0.400 Biomarker phenotype CTD_human Forward genetic screen of mouse reveals dominant missense mutation in the P/Q-type voltage-dependent calcium channel, CACNA1A. 17376154 2007
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		0.100 Biomarker phenotype HPO
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		0.100 Biomarker phenotype HPO
CUI: C4021571
Disease: Abnormal vestibulo-ocular reflex
Abnormal vestibulo-ocular reflex 		0.100 Biomarker disease HPO
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation phenotype CLINVAR
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		0.100 GeneticVariation group CLINVAR
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		0.100 Biomarker disease HPO
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.760 Biomarker disease RGD Thus, the GRY rat with P/Q-type Ca(2+) channel disorders is a useful model for studying absence epilepsy and Cacna1a-related diseases. 17196942 2007
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.760 Biomarker disease CTD_human Thus, the GRY rat with P/Q-type Ca(2+) channel disorders is a useful model for studying absence epilepsy and Cacna1a-related diseases. 17196942 2007
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.760 GeneticVariation disease BEFREE In patients with the absence epilepsy/ataxia phenotype, genetic marker analysis was consistent with linkage to the CACNA1A gene on chromosome 19, which encodes the main pore-forming alpha1A subunit of CaV2.1 channels (CaV2.1alpha1). 15483044 2004
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.760 Biomarker disease BEFREE Cav2.1 (P/Q-type) calcium channels control synaptic transmission at presynaptic nerve terminals, and mutations in the gene encoding the Cav2.1 alpha1 subunit (CACNA1A) have been linked to absence seizures in both humans and rodents. 20091047 2010
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.760 Biomarker disease GENOMICS_ENGLAND Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 8898206 1996
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.760 Biomarker disease BEFREE Thus, the GRY rat with P/Q-type Ca(2+) channel disorders is a useful model for studying absence epilepsy and Cacna1a-related diseases. 17196942 2007
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.760 GeneticVariation disease BEFREE However, the subjects harboring SCN1A mutations and CACNA1A variants had absence seizures more frequently than the patients with only SCN1A mutations (8/20 vs. 0/20, p=0.002). 23103419 2013
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.760 Biomarker disease BEFREE Adult loss of Cacna1a in mice recapitulates childhood absence epilepsy by distinct thalamic bursting mechanisms. 31800012 2020
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.760 Biomarker disease BEFREE Thus, the tottering-6j mouse is a useful model for studying Cav2.1 channel functions and Cacna1a-related diseases, including absence epilepsy. 26002462 2015
CUI: C4553705
Disease: Absence Seizure Disorder
Absence Seizure Disorder 		0.300 Biomarker disease CTD_human The ataxic groggy rat has a missense mutation in the P/Q-type voltage-gated Ca2+ channel alpha1A subunit gene and exhibits absence seizures. 17196942 2007
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.130 GeneticVariation phenotype BEFREE It has been well established that mice with a mutation at Cacna1a such as tottering and leaner show absence seizures. 17196942 2007
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.130 Biomarker phenotype BEFREE Cav2.1 (P/Q-type) calcium channels control synaptic transmission at presynaptic nerve terminals, and mutations in the gene encoding the Cav2.1 alpha1 subunit (CACNA1A) have been linked to absence seizures in both humans and rodents. 20091047 2010
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.130 GeneticVariation phenotype BEFREE However, the subjects harboring SCN1A mutations and CACNA1A variants had absence seizures more frequently than the patients with only SCN1A mutations (8/20 vs. 0/20, p=0.002). 23103419 2013
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.130 GeneticVariation phenotype CLINVAR