ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
Disease: CONE-ROD DYSTROPHY 3 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.900 GeneticVariation disease UNIPROT Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. 10958761 2000
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.900 CausalMutation disease CLINVAR A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. 10958763 2000
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.900 CausalMutation disease CLINVAR Biochemical defects in ABCR protein variants associated with human retinopathies. 11017087 2000
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.900 GeneticVariation disease CLINVAR New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. 10711710 2000
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.900 CausalMutation disease CLINVAR Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 9973280 1999
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.900 CausalMutation disease CLINVAR Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene. 10413692 1999
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.900 GeneticVariation disease CLINVAR Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. 9503029 1998
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.900 GeneticVariation disease CLINVAR Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. 9781034 1998
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.900 CausalMutation disease CLINVAR Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. 9466990 1998
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.900 Biomarker disease CTD_human
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		0.900 Biomarker disease GENOMICS_ENGLAND