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:

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

dbSNP:

rs363092

Entrez Id:	3064
Gene Symbol:	HTT

HTT

CUI:	C0017654
Disease:

Glomerular Filtration Rate

0.700

GeneticVariation

GWASCAT

A catalog of genetic loci associated with kidney function from analyses of a million individuals.

31152163

2019

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:

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:

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:

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:

rs71180116

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

HTT;HTT-AS

CUI:	C0020179
Disease:

Huntington Disease

CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG

0.700

CausalMutation

CLINVAR

dbSNP:

rs71180116

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

HTT;HTT-AS

CUI:	C0020179
Disease:

Huntington Disease

CCAGCAGCAGCAGCAGCAGCAGCAG

0.700

CausalMutation

CLINVAR

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:

rs13102260

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

HTT;HTT-AS

CUI:	C0020179
Disease:

Huntington Disease

0.010

GeneticVariation

BEFREE

The presence of the rs13102260 minor (A) variant on the HD disease allele was associated with delayed age of onset in familial cases, whereas the presence of the rs13102260 (A) variant on the wild-type HTT allele was associated with earlier age of onset in HD patients in an extreme case-based cohort.

25938884

2015

dbSNP:

rs1313770

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

HTT;HTT-AS

CUI:	C0020179
Disease:

Huntington Disease

0.010

GeneticVariation

BEFREE

Haplotype A-7-A (H1) was observed in 47 out of 48 phase-known mutant chromosomes, obtained by segregation analysis, through the haplotype analysis of rs1313770-HD/CCG-rs82334, as it also was in 120 out of 166 chromosomes constructed by means of the PHASE program.

15832309

2005

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