DisGeNET - a database of gene-disease associations

Hepatolenticular Degeneration, C0019202

Variant: rs751202110 ×

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:

rs751202110

ATP7B

0.700

CausalMutation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

dbSNP:

rs751202110

ATP7B

0.700

CausalMutation

CLINVAR

Zinc mono-therapy in pre-symptomatic Chinese children with Wilson disease: a single center, retrospective study.

24475083

2014

dbSNP:

rs751202110

ATP7B

0.700

CausalMutation

CLINVAR

ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients.

17264425

2007