DisGeNET - a database of gene-disease associations

rs281865239, BEST1;LOC107984334

N. diseases: 3

Disease: Macular dystrophy ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Macular dystrophy

CUI:	C0730292
Disease:	Macular dystrophy

0.700

CausalMutation

CLINVAR

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

2019