DisGeNET - a database of gene-disease associations

Hepatolenticular Degeneration, C0019202

Variant: rs770829226 ×

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:

rs770829226

ATP7B

0.700

CausalMutation

CLINVAR

Biochemical staging of the chronic hepatic lesions of Wilson disease.

25130000

2014

dbSNP:

rs770829226

ATP7B

0.700

CausalMutation

CLINVAR

Mutational analysis of ATP7B in north Chinese patients with Wilson disease.

23235335

2013

dbSNP:

rs770829226

ATP7B

0.700

CausalMutation

CLINVAR

Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.

18034201

2008

dbSNP:

rs770829226

ATP7B

0.700

CausalMutation

CLINVAR

Iron accumulation in the liver of male patients with Wilson's disease.

11721763

2001

dbSNP:

rs770829226

ATP7B

0.700

CausalMutation

CLINVAR

Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.

10790207

2000

dbSNP:

rs770829226

ATP7B

0.700

CausalMutation

CLINVAR

A novel RNA splicing mutation in Japanese patients with Wilson disease.

8526905

1995

dbSNP:

rs770829226

ATP7B

0.700

GeneticVariation

CLINVAR