DisGeNET - a database of gene-disease associations

Neurodegenerative Disorders, C0524851

Variant: rs1800562 ×

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:

rs1800562

HFE ; LOC108783645

0.020

GeneticVariation

BEFREE

The C282Y mutation is more frequently associated with Hemochromatosis and the frequency of the H63D mutation is receiving increasing attention in neurodegenerative disorders.

17119292

2006

dbSNP:

rs1800562

HFE ; LOC108783645

0.020

GeneticVariation

BEFREE

These changes may explain why C282Y-HFE is a risk factor for colon and breast cancer and possibly protective against Alzheimer's disease while H63D-HFE is a risk factor for neurodegenerative diseases.

21243428

2011