Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.420 GeneticVariation disease GWASCAT Genome-wide association study of paliperidone efficacy. 27846195 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.420 Biomarker disease BEFREE The finding for CACNG5, taken together with the earlier implication of CACNA1C and CACNA1B, strongly suggests a key role for voltage-dependent calcium channel genes in the susceptibility to bipolar disorder and/or schizophrenia. 21057379 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.420 Biomarker disease PSYGENET The finding for CACNG5, taken together with the earlier implication of CACNA1C and CACNA1B, strongly suggests a key role for voltage-dependent calcium channel genes in the susceptibility to bipolar disorder and/or schizophrenia. 21057379 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.420 Biomarker disease PSYGENET The promoters for 640 genes were found to be bound by β-catenin, many of which are known schizophrenia (SZ), autism spectrum disorder (ASD), and BD candidates, including CACNA1B, NRNG, SNAP29, FGFR1, PCDH9, and nine others identified in recently published GWASs and genome-wide searches for copy number variants (CNVs). 20615089 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.420 GeneticVariation disease BEFREE The promoters for 640 genes were found to be bound by β-catenin, many of which are known schizophrenia (SZ), autism spectrum disorder (ASD), and BD candidates, including CACNA1B, NRNG, SNAP29, FGFR1, PCDH9, and nine others identified in recently published GWASs and genome-wide searches for copy number variants (CNVs). 20615089 2010
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype GENOMICS_ENGLAND Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. 30982612 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker disease GENOMICS_ENGLAND Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. 30982612 2019
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.400 Biomarker disease GENOMICS_ENGLAND Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. 30982612 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group GENOMICS_ENGLAND Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. 30982612 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype GENOMICS_ENGLAND CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. 25296916 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker disease GENOMICS_ENGLAND CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. 25296916 2015
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.400 Biomarker disease GENOMICS_ENGLAND CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. 25296916 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group GENOMICS_ENGLAND CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. 25296916 2015
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.400 Biomarker disease HPO
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.400 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.300 Biomarker group GENOMICS_ENGLAND Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. 30982612 2019
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.300 Biomarker group GENOMICS_ENGLAND CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. 25296916 2015
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.300 Therapeutic group CTD_human Inhibition of transmitter release and attenuation of anti-retroviral-associated and tibial nerve injury-related painful peripheral neuropathy by novel synthetic Ca2+ channel peptides. 22891239 2012
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.300 Biomarker disease PSYGENET The finding for CACNG5, taken together with the earlier implication of CACNA1C and CACNA1B, strongly suggests a key role for voltage-dependent calcium channel genes in the susceptibility to bipolar disorder and/or schizophrenia. 21057379 2011
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia 		0.200 Biomarker phenotype RGD Differential role of N-type calcium channel splice isoforms in pain. 17567797 2007
CUI: C0014072
Disease: Experimental Autoimmune Encephalomyelitis
Experimental Autoimmune Encephalomyelitis 		0.200 Biomarker disease RGD Distribution of a calcium channel subunit in dystrophic axons in multiple sclerosis and experimental autoimmune encephalomyelitis. 11353727 2001
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0.110 Biomarker disease BEFREE Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. 30982612 2019
CUI: C0013421
Disease: Dystonia
Dystonia 		0.110 Biomarker phenotype BEFREE The novel myoclonus-dystonia genes KCTD17 and CACNA1B also implicate abnormal calcium signaling in dystonia. 26991507 2016