Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021561
Disease: Electronegative electroretinogram
Electronegative electroretinogram 		0.100 Biomarker phenotype 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: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		0.100 Biomarker phenotype HPO
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: 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: 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: 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