DisGeNET - a database of gene-disease associations

THAP1, THAP domain containing 1, 55145

N. diseases: 51; N. variants: 27

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:

rs267607111

Entrez Id:	55145
Gene Symbol:	THAP1

THAP1

CUI:	C1414216
Disease:

Dystonia 6, torsion (disorder)

0.800

GeneticVariation

UNIPROT

In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.

28299530

2017

dbSNP:

rs267607112

Entrez Id:	55145
Gene Symbol:	THAP1

THAP1

CUI:	C1414216
Disease:

Dystonia 6, torsion (disorder)

0.800

GeneticVariation

UNIPROT

In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.

28299530

2017

dbSNP:

rs387907176

Entrez Id:	55145
Gene Symbol:	THAP1

THAP1

CUI:	C1414216
Disease:

Dystonia 6, torsion (disorder)

0.800

GeneticVariation

UNIPROT

In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.

28299530

2017

dbSNP:

rs387907177

Entrez Id:	55145
Gene Symbol:	THAP1

THAP1

CUI:	C1414216
Disease:

Dystonia 6, torsion (disorder)

0.800

GeneticVariation

UNIPROT

In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.

28299530

2017

dbSNP:

rs267607111

Entrez Id:	55145
Gene Symbol:	THAP1

THAP1

CUI:	C1414216
Disease:

Dystonia 6, torsion (disorder)

0.800

GeneticVariation

UNIPROT

High variability of clinical symptoms in a Polish family with a novel THAP1 mutation.

25385508

2015

dbSNP:

rs267607112

Entrez Id:	55145
Gene Symbol:	THAP1

THAP1

CUI:	C1414216
Disease:

Dystonia 6, torsion (disorder)

0.800

GeneticVariation

UNIPROT

High variability of clinical symptoms in a Polish family with a novel THAP1 mutation.

25385508

2015

dbSNP:

rs387907176

Entrez Id:	55145
Gene Symbol:	THAP1

THAP1

CUI:	C1414216
Disease:

Dystonia 6, torsion (disorder)

0.800

GeneticVariation

UNIPROT

High variability of clinical symptoms in a Polish family with a novel THAP1 mutation.

25385508

2015

dbSNP:

rs387907177

Entrez Id:	55145
Gene Symbol:	THAP1

THAP1

CUI:	C1414216
Disease:

Dystonia 6, torsion (disorder)

0.800

GeneticVariation

UNIPROT

High variability of clinical symptoms in a Polish family with a novel THAP1 mutation.

25385508

2015

dbSNP:

rs267607111

Entrez Id:	55145
Gene Symbol:	THAP1

THAP1

CUI:	C1414216
Disease:

Dystonia 6, torsion (disorder)

0.800

GeneticVariation

UNIPROT

Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.

22377579

2012

dbSNP:

rs267607111

Entrez Id:	55145
Gene Symbol:	THAP1

THAP1

CUI:	C1414216
Disease:

Dystonia 6, torsion (disorder)

0.800

GeneticVariation

UNIPROT

THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.

21800139

2012

dbSNP:

rs267607111

Entrez Id:	55145
Gene Symbol:	THAP1

THAP1

CUI:	C1414216
Disease:

Dystonia 6, torsion (disorder)

0.800

GeneticVariation

UNIPROT

Identification and functional analysis of novel THAP1 mutations.

21847143

2012

dbSNP:

rs267607112

Entrez Id:	55145
Gene Symbol:	THAP1

THAP1

CUI:	C1414216
Disease:

Dystonia 6, torsion (disorder)

0.800

GeneticVariation

UNIPROT

Identification and functional analysis of novel THAP1 mutations.

21847143

2012

dbSNP:

rs267607112

Entrez Id:	55145
Gene Symbol:	THAP1

THAP1

CUI:	C1414216
Disease:

Dystonia 6, torsion (disorder)

0.800

GeneticVariation

UNIPROT

Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.

22377579

2012

dbSNP:

rs267607112

Entrez Id:	55145
Gene Symbol:	THAP1

THAP1

CUI:	C1414216
Disease:

Dystonia 6, torsion (disorder)

0.800

GeneticVariation

UNIPROT

THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.

21800139

2012

dbSNP:

rs387907176

Entrez Id:	55145
Gene Symbol:	THAP1

THAP1

CUI:	C1414216
Disease:

Dystonia 6, torsion (disorder)

0.800

GeneticVariation

UNIPROT

Identification and functional analysis of novel THAP1 mutations.

21847143

2012

dbSNP:

rs387907176

Entrez Id:	55145
Gene Symbol:	THAP1

THAP1

CUI:	C1414216
Disease:

Dystonia 6, torsion (disorder)

0.800

GeneticVariation

UNIPROT

THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.

21800139

2012

dbSNP:

rs387907176

Entrez Id:	55145
Gene Symbol:	THAP1

THAP1

CUI:	C1414216
Disease:

Dystonia 6, torsion (disorder)

0.800

GeneticVariation

UNIPROT

Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.

22377579

2012

dbSNP:

rs387907177

Entrez Id:	55145
Gene Symbol:	THAP1

THAP1

CUI:	C1414216
Disease:

Dystonia 6, torsion (disorder)

0.800

GeneticVariation

UNIPROT

THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.

21800139

2012

dbSNP:

rs387907177

Entrez Id:	55145
Gene Symbol:	THAP1

THAP1

CUI:	C1414216
Disease:

Dystonia 6, torsion (disorder)

0.800

GeneticVariation

UNIPROT

Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.

22377579

2012

dbSNP:

rs387907177

Entrez Id:	55145
Gene Symbol:	THAP1

THAP1

CUI:	C1414216
Disease:

Dystonia 6, torsion (disorder)

0.800

GeneticVariation

UNIPROT

Identification and functional analysis of novel THAP1 mutations.

21847143

2012

dbSNP:

rs118204013

Entrez Id:	55145
Gene Symbol:	THAP1

THAP1

CUI:	C1414216
Disease:

Dystonia 6, torsion (disorder)

0.800

GeneticVariation

UNIPROT

EFNS guidelines on diagnosis and treatment of primary dystonias.

20482602

2011

dbSNP:

rs267607111

Entrez Id:	55145
Gene Symbol:	THAP1

THAP1

CUI:	C1414216
Disease:

Dystonia 6, torsion (disorder)

0.800

GeneticVariation

UNIPROT

DYT 6--a novel THAP1 mutation with excellent effect on pallidal DBS.

21425341

2011

dbSNP:

rs267607111

Entrez Id:	55145
Gene Symbol:	THAP1

THAP1

CUI:	C1414216
Disease:

Dystonia 6, torsion (disorder)

0.800

GeneticVariation

UNIPROT

Homozygous THAP1 mutations as cause of early-onset generalized dystonia.

21425335

2011

dbSNP:

rs267607111

Entrez Id:	55145
Gene Symbol:	THAP1

THAP1

CUI:	C1414216
Disease:

Dystonia 6, torsion (disorder)

0.800

GeneticVariation

UNIPROT

EFNS guidelines on diagnosis and treatment of primary dystonias.

20482602

2011

dbSNP:

rs267607111

Entrez Id:	55145
Gene Symbol:	THAP1

THAP1

CUI:	C1414216
Disease:

Dystonia 6, torsion (disorder)

0.800

GeneticVariation

UNIPROT

Novel THAP1 gene mutations in patients with primary dystonia from southwest China.

21839475

2011