Gene table of HFE : hemochromatosis

Gene-disease associations table

Disease ID	Disease name	Source of annotation with HFE	OMIM link	Number of associated genes	genes
104300	ALZHEIMER DISEASE	OMIM	link to OMIM	13	HFE, PSEN2, ACE, APBB2, APP, A2M, PAXIP1, NOS3, MPO, PLAU, BLMH, PSEN1, SORL1
614193	TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2	ClinVar, OMIM	link to OMIM	1	HFE
PS235200	HEMOCHROMATOSIS	ClinVar, OMIM, HUMSAVAR	link to OMIM	7	TFR2, HAMP, FTH1, BMP2, HFE2, SLC40A1, HFE
PS603933	MICROVASCULAR COMPLICATIONS OF DIABETES	ClinVar, OMIM	link to OMIM	7	EPO, ACE, PON1, IL1RN, SOD2, HFE, VEGFA
176100	PORPHYRIA CUTANEA TARDA	OMIM	link to OMIM	2	UROD, HFE
176200	PORPHYRIA VARIEGATA	OMIM	link to OMIM	2	HFE, PPOX

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
beta-2-microglobulin binding	GO:0030881	7.34
antigen binding	GO:0003823	5.02
peptide antigen binding	GO:0042605	6.18
amide binding	GO:0033218	4.14
transferrin receptor binding	GO:1990459	7.66
co-receptor binding	GO:0039706	7.54
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
peptide binding	GO:0042277	4.22
receptor binding	GO:0005102	2.43