DisGeNET - a database of gene-disease associations

Hepatolenticular Degeneration, C0019202

Variant: rs121907999 ×

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:

rs121907999

ATP7B

0.700

CausalMutation

CLINVAR

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

23518715

2013

dbSNP:

rs121907999

ATP7B

0.700

CausalMutation

CLINVAR

Wilson disease: high prevalence in a mountainous area of Crete.

15845031

2005

dbSNP:

rs121907999

ATP7B

0.700

CausalMutation

CLINVAR

Efficient detection of mutations in Wilson disease by manifold sequencing.

8938442

1996