DisGeNET - a database of gene-disease associations

Hepatolenticular Degeneration, C0019202

Variant: rs786204578 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs786204578

ATP7B

0.700

CausalMutation

CLINVAR

Gastrointestinal side effects in children with Wilson's disease treated with zinc sulphate.

23885147

2013

dbSNP:

rs786204578

ATP7B

0.700

CausalMutation

CLINVAR

Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis.

22677543

2012

dbSNP:

rs786204578

ATP7B

0.700

CausalMutation

CLINVAR

Clinical presentation and mutations in Danish patients with Wilson disease.

21610751

2011

dbSNP:

rs786204578

ATP7B

0.700

CausalMutation

CLINVAR

Critical roles for the COOH terminus of the Cu-ATPase ATP7B in protein stability, trans-Golgi network retention, copper sensing, and retrograde trafficking.

21454443

2011

dbSNP:

rs786204578

ATP7B

0.700

CausalMutation

CLINVAR

Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson's disease.

17272994

2007

dbSNP:

rs786204578

ATP7B

0.700

CausalMutation

CLINVAR

Revised King's College score for liver transplantation in adult patients with Wilson's disease.

17154398

2007

dbSNP:

rs786204578

ATP7B

0.700

CausalMutation

CLINVAR

Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.

16283883

2005