Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 Biomarker disease CTD_human
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3 		0.700 Biomarker disease CTD_human
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3 		0.700 CausalMutation disease CLINVAR
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		0.320 GeneticVariation disease ORPHANET
Entrez Id: 23418
Gene Symbol: CRB1
CRB1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease BEFREE ABCA4 mutation testing detected 15 STGD alleles, six of which harbor novel mutations. 23882696 2013
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease CLINVAR A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations. 23499370 2013
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 CausalMutation disease CLINVAR A map of human genome variation from population-scale sequencing. 20981092 2010
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease CLINVAR A map of human genome variation from population-scale sequencing. 20981092 2010
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 CausalMutation disease CLINVAR A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus. 10509673 1999
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease CLINVAR A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. 10612508 1999
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease UNIPROT A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. 10612508 1999
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease BEFREE A patient, who exhibited a STGD phenotype, was found to be homozygous for the p.Asn1805Asp (c.5413A>G) mutation in ABCA4. 18334942 2008
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 CausalMutation disease CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934 1997
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934 1997
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease UNIPROT A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934 1997
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 Biomarker disease BEFREE A primary role of the ABCA4 gene in STGD1/FFM and AR CRD, together with the gene's involvement in an as-yet-unknown proportion of cases with AR RP, strengthens the idea that mutations in the ABCA4 gene could be the most frequent cause of inherited retinal dystrophy in humans. 10958761 2000
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 Biomarker disease BEFREE A total of 238 patients with ABCA4-related STGD1 were enrolled at baseline (bilateral enrollment in 86.6%) and underwent repeat testing at months 6 and 12. 29890160 2018
Entrez Id: 263
Gene Symbol: AMD1P2
AMD1P2 		0.020 Biomarker disease BEFREE A total of 24 eyes of 12 patients with STGD and 23 eyes of 14 patients with atrophic AMD were enrolled in the study. 22589445 2012
Entrez Id: 262
Gene Symbol: AMD1
AMD1 		0.020 Biomarker disease BEFREE A total of 24 eyes of 12 patients with STGD and 23 eyes of 14 patients with atrophic AMD were enrolled in the study. 22589445 2012
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease CLINVAR ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype. 20335603 2010
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease CLINVAR ABCA4 disease progression and a proposed strategy for gene therapy. 19074458 2009
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 CausalMutation disease CLINVAR ABCA4 disease progression and a proposed strategy for gene therapy. 19074458 2009