Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: C0004936
Disease: Mental disorders
Mental disorders 		0.010 GeneticVariation group BEFREE Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders. 22488967 2012
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: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.010 GeneticVariation phenotype BEFREE Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders. 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: C0019693
Disease: HIV Infections
HIV Infections 		0.010 Biomarker group BEFREE Purified recombinant soluble CD4 (rCD 4) is a new antiviral agent which has been shown to block HIV infection of lymphocytic and monocytic cell lines as well as peripheral blood mononuclear cells. 1762833 1991
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: C0596887
Disease: mathematical ability
mathematical ability 		0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Gene-smoking interactions identify several novel blood pressure loci in the Framingham Heart Study. 25189868 2015
CUI: C0009398
Disease: Color vision defect
Color vision defect 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0085636
Disease: Photophobia
Photophobia 		0.100 Biomarker phenotype HPO
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		0.100 Biomarker phenotype HPO
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		0.100 Biomarker phenotype 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: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		0.100 Biomarker phenotype HPO
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		0.100 Biomarker phenotype HPO