DisGeNET - a database of gene-disease associations

rs5030732, UCHL1;UCHL1-AS1

N. diseases: 10

Disease: Bilateral cataracts (disorder) ×

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

Bilateral cataracts (disorder)

CUI:	C0521707
Disease:	Bilateral cataracts (disorder)

0.010

GeneticVariation

BEFREE

Ubiquitin carboxyl-terminal esterase L1 (UCHL1) S18Y polymorphism in patients with cataracts.

2011