DisGeNET - a database of gene-disease associations

Iron deficiency anemia, C0162316

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

0.030

GeneticVariation

BEFREE

We investigated the role of HFE C282Y, H63D, and TMPRSS6 A736V variants in the pathogenesis of iron deficiency anemia (IDA) in celiac disease (CD) patients, at diagnosis and after 1 year of gluten-free diet (GFD).

29194702

2018

dbSNP:

rs1800562

HFE ; LOC108783645

0.030

GeneticVariation

BEFREE

The protective effect of the heterozygous genotype for HFE C282Y mutation against ID and IDA in female blood donors was also determined.

19747287

2009

dbSNP:

rs1800562

HFE ; LOC108783645

0.030

GeneticVariation

BEFREE

We determined whether the rise in post-prandial serum iron is increased in fully treated patients with hereditary haemochromatosis (HFE C282Y+/+; HH) compared to iron deficiency anaemia (IDA), iron-replete heterozygous subjects (HFE C282Y+/-) and iron-replete controls (HFE C282Y-/-).

18276042

2008