DisGeNET - a database of gene-disease associations

Exudative vitreoretinopathy 1, C1851402

Gene: TSPAN12 ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

0.110

GeneticVariation

disease

BEFREE

Here, we report that mutations in TSPAN12 also cause autosomal-dominant FEVR.

2010

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

0.110

GeneticVariation

disease

CLINVAR