DisGeNET - a database of gene-disease associations

Macular dystrophy, C0730292

Variant: rs281865377 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs281865377

ABCA4

0.700

CausalMutation

CLINVAR

Gene symbol: ABCA4. Disease: Macular dystrophy.

20960624

2008

dbSNP:

rs281865377

ABCA4

0.700

GeneticVariation

CLINVAR

Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.

11527935

2001