DisGeNET - a database of gene-disease associations

TSPAN12, tetraspanin 12, 23554

N. diseases: 44; N. variants: 15

Source: ALL

Results per page

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

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs267607151

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

CUI:	C2750079
Disease:

Exudative Vitreoretinopathy 5

0.800

GeneticVariation

UNIPROT

Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

22427576

2012

dbSNP:

rs267607152

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

CUI:	C2750079
Disease:

Exudative Vitreoretinopathy 5

0.800

GeneticVariation

UNIPROT

Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

22427576

2012

dbSNP:

rs267607154

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

CUI:	C2750079
Disease:

Exudative Vitreoretinopathy 5

0.800

GeneticVariation

UNIPROT

Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

22427576

2012

dbSNP:

rs538591733

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

CUI:	C2750079
Disease:

Exudative Vitreoretinopathy 5

0.800

GeneticVariation

UNIPROT

Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

22427576

2012

dbSNP:

rs587777283

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

CUI:	C2750079
Disease:

Exudative Vitreoretinopathy 5

0.800

GeneticVariation

UNIPROT

Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

22427576

2012

dbSNP:

rs267607151

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

CUI:	C2750079
Disease:

Exudative Vitreoretinopathy 5

0.800

GeneticVariation

UNIPROT

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

20159111

2010

dbSNP:

rs267607151

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

CUI:	C2750079
Disease:

Exudative Vitreoretinopathy 5

0.800

GeneticVariation

UNIPROT

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.

20159112

2010

dbSNP:

rs267607152

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

CUI:	C2750079
Disease:

Exudative Vitreoretinopathy 5

0.800

GeneticVariation

UNIPROT

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.

20159112

2010

dbSNP:

rs267607152

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

CUI:	C2750079
Disease:

Exudative Vitreoretinopathy 5

0.800

GeneticVariation

UNIPROT

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

20159111

2010

dbSNP:

rs267607154

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

CUI:	C2750079
Disease:

Exudative Vitreoretinopathy 5

0.800

GeneticVariation

UNIPROT

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

20159111

2010

dbSNP:

rs267607154

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

CUI:	C2750079
Disease:

Exudative Vitreoretinopathy 5

0.800

GeneticVariation

UNIPROT

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.

20159112

2010

dbSNP:

rs538591733

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

CUI:	C2750079
Disease:

Exudative Vitreoretinopathy 5

0.800

GeneticVariation

UNIPROT

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.

20159112

2010

dbSNP:

rs538591733

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

CUI:	C2750079
Disease:

Exudative Vitreoretinopathy 5

0.800

GeneticVariation

UNIPROT

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

20159111

2010

dbSNP:

rs587777283

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

CUI:	C2750079
Disease:

Exudative Vitreoretinopathy 5

0.800

GeneticVariation

UNIPROT

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

20159111

2010

dbSNP:

rs587777283

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

CUI:	C2750079
Disease:

Exudative Vitreoretinopathy 5

0.800

GeneticVariation

UNIPROT

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.

20159112

2010

dbSNP:

rs267607151

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

CUI:	C2750079
Disease:

Exudative Vitreoretinopathy 5

0.800

CausalMutation

CLINVAR

dbSNP:

rs267607152

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

CUI:	C2750079
Disease:

Exudative Vitreoretinopathy 5

0.800

CausalMutation

CLINVAR

dbSNP:

rs267607154

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

CUI:	C2750079
Disease:

Exudative Vitreoretinopathy 5

0.800

CausalMutation

CLINVAR

dbSNP:

rs538591733

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

CUI:	C2750079
Disease:

Exudative Vitreoretinopathy 5

0.800

CausalMutation

CLINVAR

dbSNP:

rs587777283

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

CUI:	C2750079
Disease:

Exudative Vitreoretinopathy 5

0.800

CausalMutation

CLINVAR

dbSNP:

rs71569047

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

CUI:	C0005938
Disease:

Bone Density

0.700

GeneticVariation

GWASCAT

Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.

29304378

2018

dbSNP:

rs1171910750

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

CUI:	C0339539
Disease:

Familial Exudative Vitreoretinopathy

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1554403626

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

CUI:	C2750079
Disease:

Exudative Vitreoretinopathy 5

GAAACAGC

0.700

CausalMutation

CLINVAR

dbSNP:

rs1554403767

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

CUI:	C0344290
Disease:

Vitreoretinal degeneration

0.700

CausalMutation

CLINVAR

dbSNP:

rs200519776

Entrez Id:	23554
Gene Symbol:	TSPAN12

TSPAN12

CUI:	C2750079
Disease:

Exudative Vitreoretinopathy 5

0.700

CausalMutation

CLINVAR