DisGeNET - a database of gene-disease associations

Hepatolenticular Degeneration, C0019202

Variant: rs193922109 ×

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:

rs193922109

ATP7B

0.700

CausalMutation

CLINVAR

A genetic study of Wilson's disease in the United Kingdom.

23518715

2013

dbSNP:

rs193922109

ATP7B

0.700

CausalMutation

CLINVAR

Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

21682854

2011

dbSNP:

rs193922109

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:

rs193922109

ATP7B

0.700

CausalMutation

CLINVAR

Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.

18483695

2008

dbSNP:

rs193922109

ATP7B

0.700

CausalMutation

CLINVAR

Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene.

15952988

2005

dbSNP:

rs193922109

ATP7B

0.700

CausalMutation

CLINVAR

Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.

15024742

2004

dbSNP:

rs193922109

ATP7B

0.700

CausalMutation

CLINVAR

Haemolytic onset of Wilson disease in a patient with homozygous truncation of ATP7B at Arg1319.

11472373

2001

dbSNP:

rs193922109

ATP7B

0.700

CausalMutation

CLINVAR

Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.

10544227

1999

dbSNP:

rs193922109

ATP7B

0.700

CausalMutation

CLINVAR

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.

9311736

1997

dbSNP:

rs193922109

ATP7B

0.700

CausalMutation

CLINVAR

Efficient detection of mutations in Wilson disease by manifold sequencing.

8938442

1996

dbSNP:

rs193922109

ATP7B

0.700

CausalMutation

CLINVAR

The Wilson disease gene: spectrum of mutations and their consequences.

7626145

1995

dbSNP:

rs193922109

ATP7B

0.700

CausalMutation

CLINVAR

Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.

8533760

1995