DisGeNET - a database of gene-disease associations

Source: ALL

Disease: HUNTINGTON DISEASE-LIKE 1 ×

Variant: rs74315405 ×

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:

rs74315405

PRNP

CUI:	C1864112
Disease:	HUNTINGTON DISEASE-LIKE 1

HUNTINGTON DISEASE-LIKE 1

0.700

CausalMutation

CLINVAR

Structural effects of multiple pathogenic mutations suggest a model for the initiation of misfolding of the prion protein.

25959220

2015

dbSNP:

rs74315405

PRNP

CUI:	C1864112
Disease:	HUNTINGTON DISEASE-LIKE 1

HUNTINGTON DISEASE-LIKE 1

0.700

CausalMutation

CLINVAR

The unfolded state of the murine prion protein and properties of single-point mutants related to human prion diseases.

20541558

2010

dbSNP:

rs74315405

PRNP

CUI:	C1864112
Disease:	HUNTINGTON DISEASE-LIKE 1

HUNTINGTON DISEASE-LIKE 1

0.700

CausalMutation

CLINVAR

Early intermediate in human prion protein folding as evidenced by ultrarapid mixing experiments.

16939293

2006

dbSNP:

rs74315405

PRNP

CUI:	C1864112
Disease:	HUNTINGTON DISEASE-LIKE 1

HUNTINGTON DISEASE-LIKE 1

0.700

CausalMutation

CLINVAR

Disease-associated F198S mutation increases the propensity of the recombinant prion protein for conformational conversion to scrapie-like form.

12372829

2002

dbSNP:

rs74315405

PRNP

CUI:	C1864112
Disease:	HUNTINGTON DISEASE-LIKE 1

HUNTINGTON DISEASE-LIKE 1

0.700

CausalMutation

CLINVAR

Influence of amino acid substitutions related to inherited human prion diseases on the thermodynamic stability of the cellular prion protein.

10079068

1999

dbSNP:

rs74315405

PRNP

CUI:	C1864112
Disease:	HUNTINGTON DISEASE-LIKE 1

HUNTINGTON DISEASE-LIKE 1

0.700

CausalMutation

CLINVAR

Proteinase-K-resistant prion protein isoforms in Gerstmann-Sträussler-Scheinker disease (Indiana kindred).

8939199

1996

dbSNP:

rs74315405

PRNP

CUI:	C1864112
Disease:	HUNTINGTON DISEASE-LIKE 1

HUNTINGTON DISEASE-LIKE 1

0.700

CausalMutation

CLINVAR

Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles.

1363810

1992

dbSNP:

rs74315405

PRNP

CUI:	C1864112
Disease:	HUNTINGTON DISEASE-LIKE 1

HUNTINGTON DISEASE-LIKE 1

0.700

CausalMutation

CLINVAR

Linkage of the Indiana kindred of Gerstmann-Sträussler-Scheinker disease to the prion protein gene.

1363809

1992