Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.100 Biomarker disease HPO
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C1621895
Disease: Adrenal hyperplasia
Adrenal hyperplasia 		0.100 Biomarker disease HPO
CUI: C1845206
Disease: Decreased circulating renin level
Decreased circulating renin level 		0.100 Biomarker phenotype HPO
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.100 Biomarker disease HPO
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.100 Biomarker disease HPO
CUI: C3714697
Disease: AV Block Second Degree by ECG Finding
AV Block Second Degree by ECG Finding 		0.100 Biomarker phenotype HPO
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		0.100 Biomarker disease HPO
CUI: C4021038
Disease: Abnormal circulating renin
Abnormal circulating renin 		0.100 Biomarker disease HPO
CUI: C4022168
Disease: EMG: impaired neuromuscular transmission
EMG: impaired neuromuscular transmission 		0.100 Biomarker phenotype HPO
CUI: C4023501
Disease: Focal myoclonic seizures
Focal myoclonic seizures 		0.100 Biomarker disease HPO
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		0.100 Biomarker phenotype HPO
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.030 Biomarker disease BEFREE The determination of the structures of the human CACNL1A2 and CACNLB3 genes should facilitate study of the role of these genes in the development of NIDDM and also other genetic diseases such as long QT syndrome. 7557998 1995
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.010 Biomarker disease BEFREE The determination of the structures of the human CACNL1A2 and CACNLB3 genes should facilitate study of the role of these genes in the development of NIDDM and also other genetic diseases such as long QT syndrome. 7557998 1995
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.010 AlteredExpression disease BEFREE Studies of animal models with chronic hyperglycemia and starvation have indicated that the reduced CACN4 mRNA levels in pancreatic islets are associated with impaired insulin responses to stimuli in both hyperglycemic and fasting states. 8529524 1995
CUI: C0021670
Disease: insulinoma
insulinoma 		0.010 Biomarker disease BEFREE Molecular cloning of a novel alpha 1 subunit (beta-cell/neuroendocrine type, CACN4) of VDCCs from pancreatic islets and insulinoma have made it possible to study the electrophysiological and pharmacogical properties, regulation, and genetics of the VDCCs expressed in beta-cells. 8529524 1995
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group CLINVAR Congenital deafness and sinoatrial node dysfunction in mice lacking class D L-type Ca2+ channels. 10929716 2000
CUI: C0025261
Disease: Memory Disorders
Memory Disorders 		0.200 Biomarker disease RGD Age-related working memory impairment is correlated with increases in the L-type calcium channel protein alpha1D (Cav1.3) in area CA1 of the hippocampus and both are ameliorated by chronic nimodipine treatment. 12591156 2003
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group CLINVAR Functional role of L-type Cav1.3 Ca2+ channels in cardiac pacemaker activity. 12700358 2003
CUI: C3554018
Disease: SINOATRIAL NODE DYSFUNCTION AND DEAFNESS
SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 		0.720 Biomarker disease CLINGEN Null mutation of alpha1D Ca2+ channel gene results in deafness but no vestibular defect in mice. 15357422 2004
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		0.300 Biomarker disease CTD_human Null mutation of alpha1D Ca2+ channel gene results in deafness but no vestibular defect in mice. 15357422 2004
CUI: C0011053
Disease: Deafness
Deafness 		0.300 Biomarker phenotype CTD_human Null mutation of alpha1D Ca2+ channel gene results in deafness but no vestibular defect in mice. 15357422 2004
CUI: C0086395
Disease: Hearing Loss, Extreme
Hearing Loss, Extreme 		0.300 Biomarker phenotype CTD_human Null mutation of alpha1D Ca2+ channel gene results in deafness but no vestibular defect in mice. 15357422 2004