Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3077
Gene name	Homeostatic iron regulator
Gene symbol	HFE
Synonyms (NCBI Gene)	HFE1HHHLA-HMVCD7TFQTL2
Chromosome	6
Chromosome location	6p22.2
Summary	The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of th

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SNP ID	Visualize variation	Clinical significance	Consequence
rs111033558	G>C,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant

134

Show/Hide all (134)

miRTarBase ID	miRNA	Experiments	Reference
MIRT054541	hsa-miR-200b-3p	Western blotqRT-PCR	23708087
MIRT054542	hsa-miR-200a-3p	Western blotqRT-PCR	23708087
MIRT054543	hsa-miR-200c-3p	Western blotqRT-PCR	23708087
MIRT693483	hsa-miR-4511	HITS-CLIP	23313552
MIRT693482	hsa-miR-4731-3p	HITS-CLIP	23313552
MIRT693481	hsa-miR-4801	HITS-CLIP	23313552
MIRT693480	hsa-miR-95-5p	HITS-CLIP	23313552
MIRT693479	hsa-miR-4789-5p	HITS-CLIP	23313552
MIRT676964	hsa-miR-2392	HITS-CLIP	23824327
MIRT676962	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676963	hsa-miR-1976	HITS-CLIP	23824327
MIRT676961	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676959	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676960	hsa-miR-1193	HITS-CLIP	23824327
MIRT676958	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676957	hsa-miR-640	HITS-CLIP	23824327
MIRT676956	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT676955	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT676954	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT693483	hsa-miR-4511	HITS-CLIP	23313552
MIRT693482	hsa-miR-4731-3p	HITS-CLIP	23313552
MIRT693481	hsa-miR-4801	HITS-CLIP	23313552
MIRT693480	hsa-miR-95-5p	HITS-CLIP	23313552
MIRT693479	hsa-miR-4789-5p	HITS-CLIP	23313552
MIRT676964	hsa-miR-2392	HITS-CLIP	23824327
MIRT676962	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676963	hsa-miR-1976	HITS-CLIP	23824327
MIRT676961	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676959	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676960	hsa-miR-1193	HITS-CLIP	23824327
MIRT676958	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676957	hsa-miR-640	HITS-CLIP	23824327
MIRT676956	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT676955	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT676954	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT1044890	hsa-miR-1245b-3p	CLIP-seq
MIRT1044891	hsa-miR-499-3p	CLIP-seq
MIRT1044892	hsa-miR-499a-3p	CLIP-seq
MIRT1044893	hsa-miR-7	CLIP-seq
MIRT2242173	hsa-miR-3646	CLIP-seq
MIRT2242174	hsa-miR-3919	CLIP-seq
MIRT2242175	hsa-miR-4668-3p	CLIP-seq
MIRT2242173	hsa-miR-3646	CLIP-seq
MIRT2242174	hsa-miR-3919	CLIP-seq
MIRT2242175	hsa-miR-4668-3p	CLIP-seq
MIRT2451134	hsa-miR-185	CLIP-seq
MIRT2451135	hsa-miR-361-5p	CLIP-seq
MIRT2451136	hsa-miR-4306	CLIP-seq
MIRT2451137	hsa-miR-4428	CLIP-seq
MIRT2451138	hsa-miR-4644	CLIP-seq
MIRT2451139	hsa-miR-4786-5p	CLIP-seq
MIRT2545766	hsa-miR-1299	CLIP-seq
MIRT2451134	hsa-miR-185	CLIP-seq
MIRT2545767	hsa-miR-205	CLIP-seq
MIRT2545768	hsa-miR-28-3p	CLIP-seq
MIRT2545769	hsa-miR-302a	CLIP-seq
MIRT2545770	hsa-miR-302b	CLIP-seq
MIRT2545771	hsa-miR-302c	CLIP-seq
MIRT2545772	hsa-miR-302d	CLIP-seq
MIRT2545773	hsa-miR-302e	CLIP-seq
MIRT2545774	hsa-miR-3140-3p	CLIP-seq
MIRT2545775	hsa-miR-324-5p	CLIP-seq
MIRT2451135	hsa-miR-361-5p	CLIP-seq
MIRT2545776	hsa-miR-3647-3p	CLIP-seq
MIRT2545777	hsa-miR-372	CLIP-seq
MIRT2545778	hsa-miR-373	CLIP-seq
MIRT2545779	hsa-miR-3927	CLIP-seq
MIRT2451136	hsa-miR-4306	CLIP-seq
MIRT2451137	hsa-miR-4428	CLIP-seq
MIRT2545780	hsa-miR-4528	CLIP-seq
MIRT2451138	hsa-miR-4644	CLIP-seq
MIRT2545781	hsa-miR-4650-3p	CLIP-seq
MIRT2545782	hsa-miR-4775	CLIP-seq
MIRT2451139	hsa-miR-4786-5p	CLIP-seq
MIRT2545783	hsa-miR-4793-5p	CLIP-seq
MIRT2545784	hsa-miR-487a	CLIP-seq
MIRT2545785	hsa-miR-519a	CLIP-seq
MIRT2545786	hsa-miR-519b-3p	CLIP-seq
MIRT2545787	hsa-miR-519c-3p	CLIP-seq
MIRT2545788	hsa-miR-520a-3p	CLIP-seq
MIRT2545789	hsa-miR-520b	CLIP-seq
MIRT2545790	hsa-miR-520c-3p	CLIP-seq
MIRT2545791	hsa-miR-520d-3p	CLIP-seq
MIRT2545792	hsa-miR-520e	CLIP-seq
MIRT2545793	hsa-miR-520f	CLIP-seq
MIRT2545794	hsa-miR-590-3p	CLIP-seq
MIRT2545795	hsa-miR-875-3p	CLIP-seq
MIRT2545796	hsa-miR-944	CLIP-seq
MIRT2451134	hsa-miR-185	CLIP-seq
MIRT2545767	hsa-miR-205	CLIP-seq
MIRT2545769	hsa-miR-302a	CLIP-seq
MIRT2545770	hsa-miR-302b	CLIP-seq
MIRT2545771	hsa-miR-302c	CLIP-seq
MIRT2545772	hsa-miR-302d	CLIP-seq
MIRT2545773	hsa-miR-302e	CLIP-seq
MIRT2545774	hsa-miR-3140-3p	CLIP-seq
MIRT2682276	hsa-miR-3145-3p	CLIP-seq
MIRT2682277	hsa-miR-3152-5p	CLIP-seq
MIRT2451135	hsa-miR-361-5p	CLIP-seq
MIRT2545776	hsa-miR-3647-3p	CLIP-seq
MIRT2545777	hsa-miR-372	CLIP-seq
MIRT2545778	hsa-miR-373	CLIP-seq
MIRT2545779	hsa-miR-3927	CLIP-seq
MIRT2682278	hsa-miR-412	CLIP-seq
MIRT2451136	hsa-miR-4306	CLIP-seq
MIRT2451137	hsa-miR-4428	CLIP-seq
MIRT2545780	hsa-miR-4528	CLIP-seq
MIRT2451138	hsa-miR-4644	CLIP-seq
MIRT2545781	hsa-miR-4650-3p	CLIP-seq
MIRT2682279	hsa-miR-4774-3p	CLIP-seq
MIRT2545782	hsa-miR-4775	CLIP-seq
MIRT2451139	hsa-miR-4786-5p	CLIP-seq
MIRT2545783	hsa-miR-4793-5p	CLIP-seq
MIRT2545784	hsa-miR-487a	CLIP-seq
MIRT2682280	hsa-miR-498	CLIP-seq
MIRT2682281	hsa-miR-513b	CLIP-seq
MIRT2545785	hsa-miR-519a	CLIP-seq
MIRT2545786	hsa-miR-519b-3p	CLIP-seq
MIRT2545787	hsa-miR-519c-3p	CLIP-seq
MIRT2545788	hsa-miR-520a-3p	CLIP-seq
MIRT2545789	hsa-miR-520b	CLIP-seq
MIRT2545790	hsa-miR-520c-3p	CLIP-seq
MIRT2545791	hsa-miR-520d-3p	CLIP-seq
MIRT2545792	hsa-miR-520e	CLIP-seq
MIRT2545793	hsa-miR-520f	CLIP-seq
MIRT2682282	hsa-miR-548ac	CLIP-seq
MIRT2682283	hsa-miR-548ae	CLIP-seq
MIRT2682284	hsa-miR-548aj	CLIP-seq
MIRT2682285	hsa-miR-548am	CLIP-seq
MIRT2682286	hsa-miR-548d-3p	CLIP-seq
MIRT2682287	hsa-miR-548x	CLIP-seq
MIRT2682288	hsa-miR-548z	CLIP-seq
MIRT2545794	hsa-miR-590-3p	CLIP-seq
MIRT2545796	hsa-miR-944	CLIP-seq

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Transcription factor	Regulation	Reference
PARP1	Unknown	24184271

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GO ID	Ontology	Definition	Evidence	Reference
GO:0002474	Process	Antigen processing and presentation of peptide antigen via MHC class I	IKR	8696333
GO:0002709	Process	Regulation of T cell mediated immunity	IEA
GO:0002725	Process	Negative regulation of T cell cytokine production	IGI	24643698
GO:0005102	Function	Signaling receptor binding	IPI	10638746, 24904118
GO:0005515	Function	Protein binding	IPI	14691533, 15880641, 15965644, 20133674, 20618438, 33961781
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	21173098
GO:0005654	Component	Nucleoplasm	IDA
GO:0005769	Component	Early endosome	IDA	15880641
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10638746
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006826	Process	Iron ion transport	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IDA	10085150, 18353247
GO:0006898	Process	Receptor-mediated endocytosis	IDA	9465039
GO:0007166	Process	Cell surface receptor signaling pathway	IDA	9465039
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009897	Component	External side of plasma membrane	IDA	24904118
GO:0010039	Process	Response to iron ion	IMP	21173098
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0016020	Component	Membrane	IEA
GO:0019882	Process	Antigen processing and presentation	IC	9546397
GO:0030509	Process	BMP signaling pathway	IDA	24904118
GO:0030881	Function	Beta-2-microglobulin binding	IEA
GO:0030881	Function	Beta-2-microglobulin binding	IPI	9465039, 9546397, 9990067
GO:0031410	Component	Cytoplasmic vesicle	IDA	12704209, 15880641
GO:0032435	Process	Negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA	24904118
GO:0032435	Process	Negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA
GO:0033572	Process	Transferrin transport	IDA	9465039, 18353247
GO:0034756	Process	Regulation of iron ion transport	IBA
GO:0034756	Process	Regulation of iron ion transport	IGI	18353247
GO:0039706	Function	Co-receptor binding	IPI	22728873
GO:0042446	Process	Hormone biosynthetic process	IEA
GO:0042605	Function	Peptide antigen binding	IDA	9546397
GO:0042605	Function	Peptide antigen binding	IKR	8696333
GO:0042612	Component	MHC class I protein complex	IDA	9546397
GO:0042612	Component	MHC class I protein complex	IKR	8696333
GO:0045177	Component	Apical part of cell	IDA	15880641
GO:0045178	Component	Basal part of cell	IDA	15880641
GO:0048260	Process	Positive regulation of receptor-mediated endocytosis	IGI	18353247
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	9990067, 15880641
GO:0055037	Component	Recycling endosome	IDA	15880641
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	24904118
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IMP	21173098
GO:0065003	Process	Protein-containing complex assembly	TAS	10638746
GO:0071281	Process	Cellular response to iron ion	IGI	18353247
GO:0090277	Process	Positive regulation of peptide hormone secretion	IMP	21173098
GO:0141109	Function	Transporter activator activity	IGI	18353247
GO:1904283	Process	Negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I	IGI	24643698
GO:1990459	Function	Transferrin receptor binding	IBA
GO:1990459	Function	Transferrin receptor binding	IEA
GO:1990459	Function	Transferrin receptor binding	IPI	9465039, 9546397, 9990067, 18353247, 22728873
GO:1990641	Process	Response to iron ion starvation	IBA
GO:1990712	Component	HFE-transferrin receptor complex	IDA	9465039, 9546397, 9990067, 12704209, 22728873
GO:1990712	Component	HFE-transferrin receptor complex	IEA
GO:2000008	Process	Regulation of protein localization to cell surface	IMP	12704209
GO:2000059	Process	Negative regulation of ubiquitin-dependent protein catabolic process	IDA	24904118
GO:2001186	Process	Negative regulation of CD8-positive, alpha-beta T cell activation	IGI	24643698

MIM	HGNC	e!Ensembl
613609	4886	ENSG00000010704

Q30201

Protein name

Hereditary hemochromatosis protein (HLA-H)

Protein function

Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.

PDB

1A6Z , 1DE4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00129	MHC_I	26 → 202	Class I Histocompatibility antigen, domains alpha 1 and 2	Domain
PF07654	C1-set	206 → 289	Immunoglobulin C1-set domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in all tissues tested except brain.

Sequence

MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVF
YDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQV
ILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNR
AYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWL
KDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPS
PSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAERE

Sequence length

348

Interactions

View interactions

	KEGG		Reactome
	TGF-beta signaling pathway		Transferrin endocytosis and recycling

343

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Alzheimer disease type 1	Likely pathogenic	rs776994377	RCV002249071
Gastric cancer	Likely pathogenic; Pathogenic	rs573745685	RCV005912576
Hemochromatosis type 1	Likely pathogenic; Pathogenic	rs573745685, rs759524388, rs1199530060, rs766992720, rs111033558, rs111033563, rs199916850, rs1192141992, rs773443949, rs749553271, rs765804978, rs1561939338, rs146519482	RCV001376186 RCV003127860 RCV003485713 RCV001582388 RCV000000035 RCV000000036 RCV005045240 RCV003319951 RCV005632652 RCV003230498 RCV003126743 RCV000781466 RCV000190906
Hepatocellular carcinoma	Likely pathogenic; Pathogenic	rs573745685	RCV005912575
Hereditary hemochromatosis	Likely pathogenic; Pathogenic	rs573745685, rs759524388, rs777018511, rs1199530060, rs1762806344, rs773296212, rs780563614, rs111033563, rs776994377, rs199916850, rs2481621832, rs2481606711, rs773443949, rs1256311452, rs2481619371 View all (13 more)	RCV002550228 RCV001387126 RCV001385485 RCV001383379 RCV001950938 RCV001942148 RCV001958725 RCV001050090 RCV003588782 RCV003079167 RCV002640614 RCV002851723 RCV002932944 RCV003051883 RCV003590486 RCV003589475 RCV003591047 RCV003751649 RCV003752099 RCV003824890 RCV003864217 RCV003874112 RCV002230773 RCV002230337 RCV000636244 RCV001048895 RCV001222163 RCV001058987
Incidental Discovery	Likely pathogenic; Pathogenic	rs111033563	RCV005229758
Juvenile hemochromatosis	Likely pathogenic	rs773443949	RCV004018185
Lung cancer	Likely pathogenic; Pathogenic	rs749553271	RCV005899458
Nonpapillary renal cell carcinoma	Likely pathogenic	rs1192141992	RCV005931076

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Bronze diabetes	Conflicting classifications of pathogenicity; other; risk factor	rs1800562, rs1799945	RCV001248830 RCV001248831
Cardiomyopathy	Conflicting classifications of pathogenicity; other; risk factor	rs1800562, rs1799945	RCV001731264 RCV001731265
Cutaneous photosensitivity	Conflicting classifications of pathogenicity; other; risk factor	rs1800562	RCV000414811
Cystic fibrosis	Conflicting classifications of pathogenicity; other	rs1799945	RCV000991133
Hereditary cancer-predisposing syndrome	Conflicting classifications of pathogenicity; other; risk factor	rs1800562	RCV000210820
HFE INTRONIC POLYMORPHISM	Benign	rs1800758	RCV000000031
HFE POLYMORPHISM	Uncertain significance	rs28934889, rs111033557	RCV000000032 RCV000000033
HFE-related disorder	Conflicting classifications of pathogenicity; other; risk factor; Likely benign; Uncertain significance	rs1800562, rs1800730, rs779438836, rs149342416, rs1762350545, rs114758821, rs143662783, rs143175221	RCV002280089 RCV004532264 RCV004531452 RCV004737315 RCV004544165 RCV004535453 RCV004737805 RCV004737806
Neuroendocrine neoplasm	Conflicting classifications of pathogenicity; other; risk factor	rs1800562, rs1799945	RCV005621842 RCV005621843
Porphyrinuria	Conflicting classifications of pathogenicity; other; risk factor	rs1800562	RCV000414811
See cases	Conflicting classifications of pathogenicity; other	rs1799945	RCV004584302
Variegate porphyria	Conflicting classifications of pathogenicity; other	rs1799945	RCV002272003

Show/Hide Text Mining Associations (212)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	15018631, 18470614
Adenocarcinoma of Lung	Associate	31856248
Albuminuria	Associate	33941944
Alcohol Withdrawal Seizures	Associate	35229939
Alcoholism	Associate	19115475, 24556216, 35229939
alpha 1 Antitrypsin Deficiency	Associate	17650303, 20208481, 28617828
Alzheimer Disease	Associate	11445256, 15060098, 17047092, 20029940, 20164577, 29518107
Amyotrophic lateral sclerosis 1	Associate	33070529
Anemia	Associate	10090890, 30984307
Anemia Dyserythropoietic Congenital	Associate	10583252, 11071669
Anemia Hemolytic	Associate	10403746, 10691878, 14692443, 15865084, 19380292, 9753042
Anemia Iron Deficiency	Associate	24663082, 29194702, 30984307
Anemia Sickle Cell	Associate	14635204, 22183944, 27095682
Arrest of spermatogenesis	Associate	18395717
Arrhythmias Cardiac	Associate	22196777
Arthralgia	Associate	17284543
Arthritis	Associate	10471457, 18199861, 20583211, 29743178, 30657865
Arthritis Rheumatoid	Associate	30651232, 38003490
Atherosclerosis	Associate	18593631, 9753040
Attention Deficit Disorder with Hyperactivity	Associate	26710823
Autism Spectrum Disorder	Associate	20808228
Autoimmune enteropathy	Associate	15929194
Back Pain	Associate	30657865
Behcet Syndrome	Associate	28950260
beta Thalassemia	Associate	10895137, 11122155, 17160266, 20084012, 21491373, 21796974, 31522215, 31707418, 32588561
Blood Loss Surgical	Associate	24663082, 27784128
Brain Neoplasms	Associate	19386095
Breast Neoplasms	Associate	15018631, 16216474, 16503999, 20099304, 24443403, 33450138
Carcinoma Hepatocellular	Associate	10771090, 10986220, 12865278, 15929796, 16503999, 17461505, 17956864, 18061182, 31622736, 33231665, 33450138, 35567766
Carcinoma Ovarian Epithelial	Associate	20669231
Carcinoma Squamous Cell	Associate	31856248
Cardiomyopathies	Associate	23861158, 35659379
Cardiomyopathy Dilated	Associate	11040018, 15642540
Cardiomyopathy Right Ventricular Dilated	Associate	11040018
Cardiovascular Diseases	Associate	11040018, 30571559
Cataract	Associate	14692443
Celiac Disease	Associate	15929194, 29194702
Chemical and Drug Induced Liver Injury	Associate	10688809, 11079015, 14668040, 15841433, 19931264, 20503453, 25654085, 28617828
Cholestasis	Associate	28617828
Chondrocalcinosis	Associate	12117686, 17284543, 32228506
Choriocarcinoma	Associate	27034532
Chronic Disease	Associate	16102632, 16950433
Chronic Pain	Associate	30657865
Cirrhosis Cryptogenic	Associate	11079015, 17589946
Cluster Headache	Associate	34570359
Cognition Disorders	Associate	16824219, 17687449, 29518107
Cognitive Dysfunction	Associate	29518107
Colorectal Neoplasms	Associate	20099304, 25854174, 31422818
Communicable Diseases	Associate	10090890
Composite Lymphoma	Associate	35052344
Congenital atransferrinemia	Associate	25486930
Coronary Artery Disease	Associate	10719381, 27513231, 28684612
Coronary Disease	Associate	10719381, 20640879
Crigler Najjar Syndrome	Associate	39881831
Death	Associate	10673304, 11040018
Dementia	Associate	33427739
Dementia Vascular	Associate	29518107
Diabetes Mellitus	Associate	19018338, 19822954, 26365338, 26771691, 29899542, 30651232, 30657865, 33941944, 35567766, 35895739, 39653412
Diabetes Mellitus Type 1	Associate	29899542
Diabetes Mellitus Type 2	Associate	18566337, 19876870, 27317329, 27513231, 33450138, 35567766, 35659379
Diabetic Nephropathies	Associate	33941944
Diabetic Retinopathy	Associate	21067572
Disease	Associate	34440336
Dwarfism stiff joint ocular abnormalities	Associate	19018338
Dysmenorrhea	Associate	19401444, 24663082
Edema	Associate	19018338, 35895739
End Stage Liver Disease	Associate	17589946, 9873093
Endometrial Neoplasms	Associate	25741405
Erectile Dysfunction	Associate	12077102
Essential Hypertension	Associate	25634189, 28151915
Fatigue	Associate	12542563, 18199861, 20583211, 30657865, 32641120
Fatigue Syndrome Chronic	Associate	12542563, 19018338, 30244162
Fatty Liver	Associate	10471457, 16586555, 17640859, 19359997, 22611049, 27317329, 30145563
Fatty Liver Alcoholic	Associate	15047754, 15841433, 17589946
Fibrosis	Associate	10471457, 11473464, 12377814, 14668040, 15865084, 18061182, 20008199, 20583211, 24556216, 25504993, 27816425, 30145563, 31622736, 31815349, 32745684 View all (5 more)
Fractures Spontaneous	Associate	33427739
Frailty	Associate	30657865
Gaucher Disease	Associate	20575041
Genetic Diseases Inborn	Associate	10085150, 10090890, 11230165, 12464008, 22530027, 29270100, 30514216
Gilbert Disease	Associate	10583252, 39881831
Glaucoma Open Angle	Associate	24603425
Glioblastoma	Associate	28358914
Glioma	Associate	27898674
Glucose Intolerance	Associate	19401444, 34051741
Hearing Loss	Associate	29270100
Hearing Loss Sensorineural	Associate	25789325, 38098073
Heart Diseases	Associate	19018338, 31226389, 39653412
Heart Failure	Associate	20208481, 23927520, 34051741
HELLP Syndrome	Associate	28617828
Hematologic Diseases	Associate	19380292
Hemochromatosis	Associate	10029606, 10085150, 10090890, 10194428, 10205270, 10318901, 10376150, 10460595, 10471457, 10520044, 10572108, 10583922, 10673304, 10681280, 10719381 View all (278 more)
Hemochromatosis type 2	Associate	17339196, 26142323
Hemochromatosis type 3	Associate	17298224
Hemochromatosis type 4	Associate	12730114
Hemosiderosis	Associate	11473464
Hepatitis C	Associate	11788568
Hepatitis C Chronic	Associate	11079015, 15865084, 15991291, 17135308, 17160239, 20208481, 31056361, 34582652
Hepatitis Chronic	Associate	19359997
Hepatolenticular Degeneration	Associate	29270100
Hepatomegaly	Associate	10471457, 15929798, 20583211, 26771691, 28617828
Heredodegenerative Disorders Nervous System	Associate	22048270
Hip Injuries	Associate	15885473
HIV Infections	Associate	29968489, 34766580
Hypercholesterolemia	Associate	20503453, 31220083
Hyperferritinemia	Associate	12730114, 16586555, 18209779, 22183642, 24395214, 25864213, 34048062, 34440336, 35895739, 37428170
Hyperferritinemia hereditary with congenital cataracts	Associate	12730114, 37569253
Hyperpigmentation	Associate	19018338, 34051741
Hypersensitivity Immediate	Associate	17852457, 20669231, 27518069
Hypertension	Associate	25634189, 27317329, 28151915, 30571559, 37175507
Hyperthyroidism	Associate	18651828
Hypertriglyceridemia	Associate	20503453, 35353274
Hypertrophy	Associate	26771691
Hypogonadism	Associate	35659379
Hypothyroidism	Associate	18651828
Hypoxia	Associate	21412944
Idiopathic Noncirrhotic Portal Hypertension	Associate	10189855, 12865278, 20208481, 27816425
Idiopathic Pulmonary Fibrosis	Associate	25504993
Immune System Diseases	Associate	15840699
Immunologic Deficiency Syndromes	Associate	15671438, 30244162, 30389309
Infections	Inhibit	16043695
Inflammation	Associate	19359997, 20478760, 29899542, 38003490
Insulin Resistance	Associate	19401444, 26771691
Intestinal Diseases	Associate	15929194
Iron Deficiencies	Associate	10571078, 10691878, 11529872, 12377814, 12464008, 12614226, 15841433, 16824219, 17135308, 19931264, 21483845, 22118647, 22611049, 23144979, 24663082, 25504993, 34291615 View all (2 more)
Iron Metabolism Disorders	Associate	11358905, 11473464, 17666895, 32418850
Iron Overload	Associate	10027719, 10764716, 10895137, 11090050, 11280947, 11358905, 11529872, 11581431, 12077102, 12130528, 12377814, 12406098, 12456502, 12464008, 12584229 View all (119 more)
Isodicentric Chromosome 15 Syndrome	Associate	9032645
Jervell Lange Nielsen Syndrome	Associate	29270100
Joint Diseases	Associate	12077102, 18061976, 18199861, 19018338, 20954257, 29743178
Kidney Failure Chronic	Associate	24785111, 30984307
Lead Poisoning	Associate	30691187
Leukemia	Associate	25085015, 27077775
Leukemia Lymphocytic Chronic B Cell	Associate	15018631
Liver Cirrhosis	Associate	10471457, 11079015, 11788568, 12377814, 12865278, 16802007, 17135308, 19030706, 19359997, 19380292, 24556216, 27816425, 28617828, 32745684, 35567766, 35659379, 37179448 View all (2 more)
Liver Diseases	Associate	10376150, 10673304, 14740507, 15858186, 17079357, 17589946, 17650303, 18199861, 19018338, 19115475, 19359997, 20583211, 22297603, 23657305, 25450707 View all (5 more)
Liver Diseases Alcoholic	Associate	11579943, 17589946, 20424537, 23657305, 33596964
Liver Failure	Associate	18061182, 18593631
Long QT Syndrome	Associate	29270100
Lung Neoplasms	Associate	31856248
Lupus Erythematosus Systemic	Associate	33693920, 38003490
Lymphoma Non Hodgkin	Associate	15018631, 17650303
Meningioma	Stimulate	19386095
Mental Disorders	Associate	31226389
Metabolic Diseases	Associate	27317329
Metabolic Syndrome	Associate	26054392, 26771691, 27317329
Migraine Disorders	Associate	34570359
Multiple Organ Failure	Associate	10803694
Multiple Sclerosis	Associate	22883388, 29201641
Musculoskeletal Diseases	Associate	25822977
Myalgia	Associate	19018338, 35895739
Myelodysplastic Syndromes	Associate	25841232, 27077775
Myeloproliferative Disorders	Associate	15018631
Neonatal hemochromatosis	Associate	11446670
Neoplasm Metastasis	Associate	31856248
Neoplasms	Associate	15018631, 16216474, 16503999, 20099304, 20669231, 22234159, 23389292, 23801727, 23861158, 23991213, 24533143, 25085015, 25450707, 28358914, 31856248, 33231665, 35709753 View all (2 more)
Neoplastic Syndromes Hereditary	Associate	10189855, 10460595, 10520044, 10583252, 10792295, 11358905, 11472372, 11564085, 11788568, 12077102, 12117686, 12464008, 12584229, 12614226, 12846904 View all (37 more)
Neoplastic Syndromes Hereditary	Stimulate	15366698
Nervous System Diseases	Associate	33057367
Neural Tube Defects	Associate	15018631
Neuroblastoma	Associate	24533143
Neurodegenerative Diseases	Associate	16824219, 32143980, 35353274
Non alcoholic Fatty Liver Disease	Associate	15991291, 17160239, 19931264, 20503453, 22611049, 37118679
Obesity	Associate	15841433
Organizing Pneumonia	Associate	15841433, 19018338
Osteoarthritis	Associate	17284543, 24401005, 25822977, 30651232, 33450138, 35567766
Osteoarthritis Knee	Associate	24401005
Osteophyte	Associate	17284543
Osteoporosis	Associate	25822977, 34573286
Ovarian Neoplasms	Associate	16216474, 20669231
Overweight	Associate	24339903
Paget Disease Extramammary	Associate	33450138
Pain	Associate	29301508
Pancreatic Diseases	Associate	19030706
Pancreatic Neoplasms	Associate	17666895, 24798971
Pancreatitis Chronic	Associate	17666895
Parkinson Disease	Associate	16824219, 23750121, 40141040
Peripheral Nervous System Diseases	Associate	19374518, 33057367
Polycystic Ovary Syndrome	Associate	19401444
Polycythemia	Associate	35848311, 38244120
Polymyalgia Rheumatica	Associate	30657865
Polyps	Associate	25854174
Porphyria Cutanea Tarda	Associate	10688809, 11069625, 17298224, 17461505, 18809758, 18855993, 24068123, 37360939
Pre Eclampsia	Associate	37260121
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	25085015, 28211293
Prostatic Neoplasms	Associate	35709753
Prosthesis Failure	Associate	15885473
Pulmonary Arterial Hypertension	Associate	35442992, 37176017
Purpura Thrombotic Thrombocytopenic	Associate	9432031
Respiratory Tract Infections	Associate	32014855
Ring Chromosomes	Associate	17654685
Sarcopenia	Associate	30657865
Schnitzler Syndrome	Associate	19608676
Siderosis	Associate	19931264
Skin Diseases	Associate	11069625
Spherocytosis Hereditary	Associate	10895137, 19380292, 29563373
Squamous Cell Carcinoma of Head and Neck	Associate	23991213
Stomach Neoplasms	Associate	23389292, 27317329
Sutton disease 2	Associate	28950260
Thalassemia	Associate	17160266
Thrombocytosis	Associate	17654685
Thrombosis	Associate	10233369, 10520044
Ulcer	Associate	16102632, 16950433
Vaccine Preventable Diseases	Associate	22234159
Varicose Ulcer	Associate	16102632, 16950433, 19958990
Varicose Veins	Associate	16102632
Venous Insufficiency	Associate	16102632
Venous Thromboembolism	Associate	10233369, 10520044
Venous Thrombosis	Associate	10520044
Ventricular Dysfunction Left	Associate	15642540, 23861158
VLCAD deficiency	Associate	17852457
X linked sideroblastic anemia	Associate	10027719, 10029606
Zygomycosis	Associate	17852457

HFE (homeostatic iron regulator)