DisGeNET - a database of gene-disease associations

TACSTD2, tumor associated calcium signal transducer 2, 4070

N. diseases: 130; N. variants: 9

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:

rs80358223

Entrez Id:	4070
Gene Symbol:	TACSTD2

TACSTD2

CUI:	C0339273
Disease:

Corneal dystrophy, Lattice type 3

0.750

GeneticVariation

BEFREE

More than 90% of GDLD patients possessed the same haplotype with a Q118X mutation in TACSTD2.

23038033

2012

dbSNP:

rs80358223

Entrez Id:	4070
Gene Symbol:	TACSTD2

TACSTD2

CUI:	C0339273
Disease:

Corneal dystrophy, Lattice type 3

0.750

GeneticVariation

BEFREE

Genetic analysis revealed that all the patients possessed a homozygous Q118X mutation in TACSTD2, a major founder mutation in Japanese GDLD.

21052915

2010

dbSNP:

rs80358223

Entrez Id:	4070
Gene Symbol:	TACSTD2

TACSTD2

CUI:	C0339273
Disease:

Corneal dystrophy, Lattice type 3

0.750

GeneticVariation

BEFREE

Because the compound heterozygote mutations Q118X and Y184C cosegregated with the phenotype, they are likely the cause of GDLD in this patient.

15013888

2004

dbSNP:

rs80358223

Entrez Id:	4070
Gene Symbol:	TACSTD2

TACSTD2

CUI:	C0339273
Disease:

Corneal dystrophy, Lattice type 3

0.750

GeneticVariation

BEFREE

The Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy.

11004271

2000

dbSNP:

rs80358223

Entrez Id:	4070
Gene Symbol:	TACSTD2

TACSTD2

CUI:	C0339273
Disease:

Corneal dystrophy, Lattice type 3

0.750

GeneticVariation

BEFREE

The Q118X mutation was the most common alteration in the GDLD patients examined, accounting for 33 of 40 (82.5%) disease alleles in our panel of families.

10192395

1999

dbSNP:

rs80358223

Entrez Id:	4070
Gene Symbol:	TACSTD2

TACSTD2

CUI:	C0339273
Disease:

Corneal dystrophy, Lattice type 3

0.750

CausalMutation

CLINVAR

dbSNP:

rs80358228

Entrez Id:	4070
Gene Symbol:	TACSTD2

TACSTD2

CUI:	C0339273
Disease:

Corneal dystrophy, Lattice type 3

0.710

GeneticVariation

BEFREE

The results confirm that the missense mutation L186P in the TACSTD2 gene is also responsible for the GDLD phenotype.

15652848

2005

dbSNP:

rs80358228

Entrez Id:	4070
Gene Symbol:	TACSTD2

TACSTD2

CUI:	C0339273
Disease:

Corneal dystrophy, Lattice type 3

0.710

CausalMutation

CLINVAR

dbSNP:

rs80358224

Entrez Id:	4070
Gene Symbol:	TACSTD2

TACSTD2

CUI:	C0339273
Disease:

Corneal dystrophy, Lattice type 3

0.700

CausalMutation

CLINVAR

dbSNP:

rs80358225

Entrez Id:	4070
Gene Symbol:	TACSTD2

TACSTD2

CUI:	C0339273
Disease:

Corneal dystrophy, Lattice type 3

0.700

CausalMutation

CLINVAR

dbSNP:

rs80358226

Entrez Id:	4070
Gene Symbol:	TACSTD2

TACSTD2

CUI:	C0339273
Disease:

Corneal dystrophy, Lattice type 3

0.700

CausalMutation

CLINVAR

dbSNP:

rs80358227

Entrez Id:	4070
Gene Symbol:	TACSTD2

TACSTD2

CUI:	C0339273
Disease:

Corneal dystrophy, Lattice type 3

0.700

CausalMutation

CLINVAR

dbSNP:

rs1434458385

Entrez Id:	4070
Gene Symbol:	TACSTD2

TACSTD2

CUI:	C2936349
Disease:

Plaque, Amyloid

0.010

GeneticVariation

BEFREE

A novel TGFBI phenotype with amyloid deposits and Arg124Leu mutation.

21447988

2011

dbSNP:

rs1282483375

Entrez Id:	4070
Gene Symbol:	TACSTD2

TACSTD2

CUI:	C0339273
Disease:

Corneal dystrophy, Lattice type 3

0.010

GeneticVariation

BEFREE

These data indicate that the K84X and C108R mutations in M1S1 cause GDLD.

15295654

2004

dbSNP:

rs190800473

Entrez Id:	4070
Gene Symbol:	TACSTD2

TACSTD2

CUI:	C0339273
Disease:

Corneal dystrophy, Lattice type 3

0.010

GeneticVariation

BEFREE

Because the compound heterozygote mutations Q118X and Y184C cosegregated with the phenotype, they are likely the cause of GDLD in this patient.

15013888

2004

dbSNP:

rs80358223

Entrez Id:	4070
Gene Symbol:	TACSTD2

TACSTD2

CUI:	C1641852
Disease:

Gelatinous droplike corneal dystrophy

0.010

GeneticVariation

BEFREE

This technique showed that the Q118X mutation is a founder mutation in Japanese patients with gelatinous droplike corneal dystrophy, and it reflects the linkage disequilibrium reported previously.

10937555

2000

dbSNP:

rs80358225

Entrez Id:	4070
Gene Symbol:	TACSTD2

TACSTD2

CUI:	C0027651
Disease:

Neoplasms

0.010

GeneticVariation

BEFREE

Here we report DNA sequencing, cDNA cloning and mutational analyses of four deleterious mutations (Q118X, 632delA, Q207X and S170X) in M1S1 (formerly TROP2 and GA733-1), encoding a gastrointestinal tumour-associated antigen.

10192395

1999