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 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 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 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: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
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: 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