Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23554
Gene Symbol: TSPAN12
TSPAN12
CUI: C2750079
Disease: Exudative Vitreoretinopathy 5
Exudative Vitreoretinopathy 5
0.700 GeneticVariation UNIPROT Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR). 22427576

2012

Entrez Id: 23554
Gene Symbol: TSPAN12
TSPAN12
CUI: C2750079
Disease: Exudative Vitreoretinopathy 5
Exudative Vitreoretinopathy 5
0.700 GeneticVariation UNIPROT Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. 20159111

2010

Entrez Id: 23554
Gene Symbol: TSPAN12
TSPAN12
CUI: C2750079
Disease: Exudative Vitreoretinopathy 5
Exudative Vitreoretinopathy 5
0.700 GeneticVariation UNIPROT Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. 20159112

2010