ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
Disease: STARGARDT DISEASE 1 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61753046
rs61753046
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease:
STARGARDT DISEASE 1 (disorder) 		A 0.700 CausalMutation CLINVAR Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs. 28118664 2017
dbSNP: rs61753046
rs61753046
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease:
STARGARDT DISEASE 1 (disorder) 		A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs61753046
rs61753046
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease:
STARGARDT DISEASE 1 (disorder) 		A 0.700 CausalMutation CLINVAR Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. 22968130 2013
dbSNP: rs61753046
rs61753046
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease:
STARGARDT DISEASE 1 (disorder) 		A 0.700 CausalMutation CLINVAR Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan. 23134348 2013
dbSNP: rs61753046
rs61753046
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease:
STARGARDT DISEASE 1 (disorder) 		A 0.700 CausalMutation CLINVAR Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. 10958761 2000