DisGeNET - a database of gene-disease associations

rs765998048, BEST1;LOC107984334

N. diseases: 2

Disease: Vitelliform Macular Dystrophy ×

Source: ALL

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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

Vitelliform Macular Dystrophy

CUI:	C0339510
Disease:	Vitelliform Macular Dystrophy

0.010

GeneticVariation

BEFREE

Of them, 14 were associated with ARB, 23 with BVMD and two (c.604C>T and c.898G>A) with both BVMD and ARB.

2019