DisGeNET - a database of gene-disease associations

Summary of VDAs
Evidences for VDAs

rs137853006, PROM1

N. diseases: 11

Disease: Bull's eye 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

Bull's eye macular dystrophy

CUI:	C0339512
Disease:	Bull's eye macular dystrophy

0.800

GeneticVariation

UNIPROT

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.

18654668

2008

Bull's eye macular dystrophy

CUI:	C0339512
Disease:	Bull's eye macular dystrophy

0.800

CausalMutation

CLINVAR