Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.700 CausalMutation CLINVAR Clinical and molecular characteristics of childhood-onset Stargardt disease. 25312043

2015

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.700 CausalMutation CLINVAR Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. 26497376

2015

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.700 GeneticVariation CLINVAR Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. 20554613

2010

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.700 CausalMutation CLINVAR Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. 11527935

2001

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.700 GeneticVariation CLINVAR Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1). 11594993

2001

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.700 GeneticVariation CLINVAR Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 9973280

1999

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.700 GeneticVariation CLINVAR Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. 9781034

1998