DisGeNET - a database of gene-disease associations

HTT, huntingtin, 3064

N. diseases: 188; N. variants: 32

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:

rs768047421

Entrez Id:	3064
Gene Symbol:	HTT

HTT

CUI:	C4479491
Disease:

LOPES-MACIEL-RODAN SYNDROME

0.800

GeneticVariation

UNIPROT

dbSNP:

rs10015979

Entrez Id:	3064
Gene Symbol:	HTT

HTT

CUI:	C0020179
Disease:

Huntington Disease

0.700

GeneticVariation

GWASDB

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.

22387017

2012

dbSNP:

rs1085307052

Entrez Id:	3064
Gene Symbol:	HTT

HTT

CUI:	C4479491
Disease:

LOPES-MACIEL-RODAN SYNDROME

0.700

GeneticVariation

UNIPROT

dbSNP:

rs110501

Entrez Id:	3064
Gene Symbol:	HTT

HTT

CUI:	C0020179
Disease:

Huntington Disease

0.700

GeneticVariation

GWASDB

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.

22387017

2012

dbSNP:

rs11731237

Entrez Id:	3064
Gene Symbol:	HTT

HTT

CUI:	C0020179
Disease:

Huntington Disease

0.700

GeneticVariation

GWASDB

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.

22387017

2012

dbSNP:

rs2071655

Entrez Id:	3064
Gene Symbol:	HTT

HTT

CUI:	C0020179
Disease:

Huntington Disease

0.700

GeneticVariation

GWASDB

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.

22387017

2012

dbSNP:

rs2269499

Entrez Id:	3064
Gene Symbol:	HTT

HTT

CUI:	C0020179
Disease:

Huntington Disease

0.700

GeneticVariation

GWASDB

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.

22387017

2012

dbSNP:

rs2285086

Entrez Id:	3064
Gene Symbol:	HTT

HTT

CUI:	C0020179
Disease:

Huntington Disease

0.700

GeneticVariation

GWASDB

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.

22387017

2012

dbSNP:

rs2298969

Entrez Id:	3064
Gene Symbol:	HTT

HTT

CUI:	C0020179
Disease:

Huntington Disease

0.700

GeneticVariation

GWASDB

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.

22387017

2012

dbSNP:

rs2471347

Entrez Id:	3064
Gene Symbol:	HTT

HTT

CUI:	C0020179
Disease:

Huntington Disease

0.700

GeneticVariation

GWASDB

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.

22387017

2012

dbSNP:

rs2798296

Entrez Id:	3064;100750326
Gene Symbol:	HTT;HTT-AS

HTT;HTT-AS

CUI:	C0020179
Disease:

Huntington Disease

0.700

GeneticVariation

GWASDB

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.

22387017

2012

dbSNP:

rs362272

Entrez Id:	3064
Gene Symbol:	HTT

HTT

CUI:	C0020179
Disease:

Huntington Disease

0.700

GeneticVariation

GWASDB

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.

22387017

2012

dbSNP:

rs362272

Entrez Id:	3064
Gene Symbol:	HTT

HTT

CUI:	C0474702
Disease:

Sulfate measurement

0.700

GeneticVariation

GWASCAT

From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases.

27412988

2016

dbSNP:

rs362307

Entrez Id:	3064;345222
Gene Symbol:	HTT;MSANTD1

HTT;MSANTD1

CUI:	C0021704
Disease:

Intelligence

0.700

GeneticVariation

GWASCAT

Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

29844566

2018

dbSNP:

rs363066

Entrez Id:	3064
Gene Symbol:	HTT

HTT

CUI:	C0020179
Disease:

Huntington Disease

0.700

GeneticVariation

GWASDB

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.

22387017

2012

dbSNP:

rs363092

Entrez Id:	3064
Gene Symbol:	HTT

HTT

CUI:	C0020179
Disease:

Huntington Disease

0.700

GeneticVariation

GWASDB

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.

22387017

2012

dbSNP:

rs363096

Entrez Id:	3064
Gene Symbol:	HTT

HTT

CUI:	C0020179
Disease:

Huntington Disease

0.700

GeneticVariation

GWASDB

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.

22387017

2012

dbSNP:

rs3856973

Entrez Id:	3064
Gene Symbol:	HTT

HTT

CUI:	C0020179
Disease:

Huntington Disease

0.700

GeneticVariation

GWASDB

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.

22387017

2012

dbSNP:

rs55962025

Entrez Id:	3064
Gene Symbol:	HTT

HTT

CUI:	C0205682
Disease:

Waist-Hip Ratio

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs6855981

Entrez Id:	3064
Gene Symbol:	HTT

HTT

CUI:	C0020179
Disease:

Huntington Disease

0.700

GeneticVariation

GWASDB

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.

22387017

2012

dbSNP:

rs6855981

Entrez Id:	3064
Gene Symbol:	HTT

HTT

CUI:	C0023508
Disease:

White Blood Cell Count procedure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs82333

Entrez Id:	3064
Gene Symbol:	HTT

HTT

CUI:	C0020179
Disease:

Huntington Disease

0.700

GeneticVariation

GWASDB

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.

22387017

2012

dbSNP:

rs916171

Entrez Id:	3064
Gene Symbol:	HTT

HTT

CUI:	C0020179
Disease:

Huntington Disease

0.700

GeneticVariation

GWASDB

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.

22387017

2012

dbSNP:

rs1210554604

Entrez Id:	3064
Gene Symbol:	HTT

HTT

CUI:	C0020179
Disease:

Huntington Disease

0.010

GeneticVariation

BEFREE

In order to assess the importance of this pathway in HD pathology, JNK inhibitors including dominant-negative mutants of upstream kinases (ASK1(K709R), MEKK1(D1369A)), a c-Jun mutant (Delta169c-Jun) and the active domain of the scaffold protein JIP-1/IBI (IBI-JBD) were tested for their ability to mitigate the effect of htt171-82Q.

19022249

2009

dbSNP:

rs1217364684

Entrez Id:	3064;100750326
Gene Symbol:	HTT;HTT-AS

HTT;HTT-AS

CUI:	C0002736
Disease:

Amyotrophic Lateral Sclerosis

0.010

GeneticVariation

BEFREE

We also find that neuronal over-expression of CAST in hSOD1(G93A) transgenic mice inhibited production of putative neurotoxic caspase-cleaved tau and activation of Cdk5, which have been implicated in neurodegeneration in ALS models, and also reduced the formation of SOD1 oligomers.

26756888

2016