Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864849
Disease: RETINAL CONE DYSTROPHY 4
RETINAL CONE DYSTROPHY 4 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans. 26560832 2016
CUI: C1864849
Disease: RETINAL CONE DYSTROPHY 4
RETINAL CONE DYSTROPHY 4 		0.600 Biomarker disease CTD_human
CUI: C1864849
Disease: RETINAL CONE DYSTROPHY 4
RETINAL CONE DYSTROPHY 4 		0.600 CausalMutation disease CLINVAR
CUI: C1864849
Disease: RETINAL CONE DYSTROPHY 4
RETINAL CONE DYSTROPHY 4 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.510 GeneticVariation disease BEFREE Homozygosity mapping ruled out most known CSNB candidates as well as CACNA2D4 and GNB3. 26368928 2015
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.510 Biomarker disease GENOMICS_ENGLAND Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans. 26560832 2016
CUI: C0339535
Disease: Night blindness, congenital stationary
Night blindness, congenital stationary 		0.510 GeneticVariation disease ORPHANET Genotyping microarray for CSNB-associated genes. 19578023 2009
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.300 GermlineCausalMutation disease ORPHANET Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. 17033974 2006
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.110 GeneticVariation disease BEFREE We performed mutation analyses of 34 patients who received an initial diagnosis of night blindness, and, in two affected siblings, we detected a homozygous nucleotide substitution (c.2406C-->A) in CACNA2D4. 17033974 2006
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.110 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.100 Biomarker disease HPO
CUI: C1298695
Disease: Hypoplasia of optic disc
Hypoplasia of optic disc 		0.100 Biomarker disease HPO
CUI: C4024756
Disease: Abnormality of macular pigmentation
Abnormality of macular pigmentation 		0.100 Biomarker disease HPO
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.100 Biomarker disease HPO
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.020 Biomarker disease BEFREE A potential strategy to cure HIV-1 infection is to use latency reversing agents (LRAs) to eliminate latent reservoirs established in resting CD4+ T (rCD4+) cells. 28539614 2017
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.020 Biomarker disease BEFREE The authors investigated here the ability of rCD4 to inhibit HIV-1 infection of peripheral blood macrophages. 1762833 1991
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 GeneticVariation disease BEFREE <i>ASPH</i>, through interaction with <i>CACNA2D4</i> (calcium voltage-gated channel auxiliary subunit alpha2delta 4), may be associated with atherosclerosis by regulating the cellular response to calcium ion; and <i>PDE3B</i> may exert roles in negative regulation of angiogenesis through cross talk with <i>ELMO1</i> (engulfment and cell motility 1). 31804889 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 GeneticVariation disease BEFREE <i>ASPH</i>, through interaction with <i>CACNA2D4</i> (calcium voltage-gated channel auxiliary subunit alpha2delta 4), may be associated with atherosclerosis by regulating the cellular response to calcium ion; and <i>PDE3B</i> may exert roles in negative regulation of angiogenesis through cross talk with <i>ELMO1</i> (engulfment and cell motility 1). 31804889 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.010 GeneticVariation disease BEFREE Two candidate AF variants in the calcium channel subunit genes (CACNB2 and CACNA2D4) were identified in two separate families using expression data and predicted function. 24727801 2014
CUI: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder 		0.010 GeneticVariation disease BEFREE Based on the data we cannot claim causality to BPD of the identified CACNA2D4 deletion but nevertheless this deletion can be important in unraveling the underlying processes leading to psychiatric diseases in general and BPD in particular. 22488967 2012
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.010 GeneticVariation disease BEFREE Based on the data we cannot claim causality to BPD of the identified CACNA2D4 deletion but nevertheless this deletion can be important in unraveling the underlying processes leading to psychiatric diseases in general and BPD in particular. 22488967 2012
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		0.010 GeneticVariation disease BEFREE These findings represent the first report of a mutation in the human CACNA2D4 gene and define a novel gene defect that causes autosomal recessive cone dystrophy. 17033974 2006
CUI: C0009398
Disease: Color vision defect
Color vision defect 		0.100 Biomarker phenotype HPO