1. Gene
  2. HFE - homeostatic iron regulator Gene

HFE - homeostatic iron regulator Gene

中文名称:稳态铁调节因子

种属: Homo sapiens

同用名: HH; HFE1; HLA-H; MVCD7; TFQTL2

基因 ID: 3077 | 基因类型: protein coding

关于 HFE

Cytogenetic location: 6p22.2 Genomic coordinates (GRCh38): 6:26,087,429-26,098,343 (from NCBI)

This gene has 14 transcripts (splice variants), 398 orthologues, 22 paralogues and is associated with 12 phenotypes. Ubiquitous expression in thyroid (RPKM 5.0), gall bladder (RPKM 4.6) and 24 other tissues.

功能概要

该基因编码的蛋白质是一种膜蛋白,类似于 MHC I 类蛋白质,并与 beta2-微球蛋白 (beta2M) 结合。据认为,这种蛋白质通过调节转铁蛋白受体与转铁蛋白的相互作用来调节铁的吸收。铁储存障碍,即遗传性血色素沉着症,是一种由该基因缺陷引起的隐性遗传病。[RefSeq 提供,2022 年 5 月]

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 the Transferrin Receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. [provided by RefSeq, May 2022]

HFE 基因产物(13)

mRNA Protein Name
NM_000410.4 NP_000401.1 hereditary hemochromatosis protein isoform 1 precursor
NM_001300749.3 NP_001287678.1 hereditary hemochromatosis protein isoform 12 precursor
NM_001384164.1 NP_001371093.1 hereditary hemochromatosis protein isoform 13 precursor
NM_001406751.1 NP_001393680.1 hereditary hemochromatosis protein isoform 14 precursor
NM_001406752.1 NP_001393681.1 hereditary hemochromatosis protein isoform 15 precursor
NM_139003.3 NP_620572.1 hereditary hemochromatosis protein isoform 3 precursor
NM_139004.3 NP_620573.1 hereditary hemochromatosis protein isoform 4 precursor
NM_139006.3 NP_620575.1 hereditary hemochromatosis protein isoform 6 precursor
NM_139007.3 NP_620576.1 hereditary hemochromatosis protein isoform 7 precursor
NM_139008.3 NP_620577.1 hereditary hemochromatosis protein isoform 8 precursor
NM_139009.3 NP_620578.1 hereditary hemochromatosis protein isoform 9 precursor
NM_139010.3 NP_620579.1 hereditary hemochromatosis protein isoform 10 precursor
NM_139011.3 NP_620580.1 hereditary hemochromatosis protein isoform 11 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables beta-2-microglobulin binding IPI
IPI: 通过物理相互作用推断
9465039 GOA
enables co-receptor binding IPI
IPI: 通过物理相互作用推断
22728873 GOA
NOT enables peptide antigen binding IDA
IDA: 通过直接分析推断
9546397 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
14691533 GOA
enables signaling receptor binding IPI
IPI: 通过物理相互作用推断
10638746 GOA
enables transferrin receptor binding IPI
IPI: 通过物理相互作用推断
9465039 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in BMP signaling pathway IDA
IDA: 通过直接分析推断
24904118 GOA
involved in cellular response to iron ion IGI
IGI: 通过遗传相互作用推断
18353247 GOA
involved in intracellular iron ion homeostasis IDA
IDA: 通过直接分析推断
10085150 GOA
involved in multicellular organismal-level iron ion homeostasis IMP
IMP: 通过突变表型推断
21173098 GOA
involved in negative regulation of CD8-positive, alpha-beta T cell activation IGI
IGI: 通过遗传相互作用推断
24643698 GOA
involved in negative regulation of T cell cytokine production IGI
IGI: 通过遗传相互作用推断
24643698 GOA
involved in negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I IGI
IGI: 通过遗传相互作用推断
24643698 GOA
involved in negative regulation of proteasomal ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
24904118 GOA
involved in negative regulation of receptor binding IDA
IDA: 通过直接分析推断
9465039 GOA
involved in negative regulation of signaling receptor activity IDA
IDA: 通过直接分析推断
9465039 GOA
involved in negative regulation of ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
24904118 GOA
involved in positive regulation of SMAD protein signal transduction IDA
IDA: 通过直接分析推断
24904118 GOA
involved in positive regulation of ferrous iron binding IGI
IGI: 通过遗传相互作用推断
18353247 GOA
involved in positive regulation of peptide hormone secretion IMP
IMP: 通过突变表型推断
21173098 GOA
involved in positive regulation of protein binding IGI
IGI: 通过遗传相互作用推断
18353247 GOA
involved in positive regulation of receptor binding IGI
IGI: 通过遗传相互作用推断
18353247 GOA
involved in positive regulation of receptor-mediated endocytosis IGI
IGI: 通过遗传相互作用推断
18353247 GOA
involved in positive regulation of signaling receptor activity IGI
IGI: 通过遗传相互作用推断
18353247 GOA
involved in positive regulation of transferrin receptor binding IGI
IGI: 通过遗传相互作用推断
18353247 GOA
involved in regulation of iron ion transport IGI
IGI: 通过遗传相互作用推断
18353247 GOA
involved in regulation of protein localization to cell surface IMP
IMP: 通过突变表型推断
12704209 GOA
involved in response to iron ion IMP
IMP: 通过突变表型推断
21173098 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of HFE-transferrin receptor complex IDA
IDA: 通过直接分析推断
9465039 GOA
NOT part of MHC class I protein complex IDA
IDA: 通过直接分析推断
9546397 GOA
located in apical part of cell IDA
IDA: 通过直接分析推断
15880641 GOA
located in basal part of cell IDA
IDA: 通过直接分析推断
15880641 GOA
located in cytoplasmic vesicle IDA
IDA: 通过直接分析推断
12704209 GOA
located in early endosome IDA
IDA: 通过直接分析推断
15880641 GOA
located in external side of plasma membrane IDA
IDA: 通过直接分析推断
24904118 GOA
located in extracellular space IDA
IDA: 通过直接分析推断
21173098 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
9990067 GOA
located in recycling endosome IDA
IDA: 通过直接分析推断
15880641 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

HFE 蛋白结构

MHC_I

MHC_I: Class I Histocompatibility antigen, domains alpha 1 and 2 (27 - 200)

C1-set

C1-set: Immunoglobulin C1-set domain (218 - 293)

  • 0
  • 100
  • 200
  • 300
  • 348 a.a.
蛋白主名 其他名称

hereditary hemochromatosis protein

MHC class I-like protein HFE

HFE 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
HFE Q30201 TFRC Homo sapiens P02786
Anti Tag CoIP
15965644
种属内
HFE Q30201 TFRC Homo sapiens P02786
Anti Bait CoIP
15965644
种属内
HFE Q30201 B2M Homo sapiens P61769
Anti Tag CoIP
15965644
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Hemochromatosis, Type 1

Hemochromatosis

Hemochromatosis Type 1

Hereditary Hemochromatosis

Hh

HFE1

Hfe Hemochromatosis, Modifier Of

Symptomatic Form Of Classic Hemochromatosis

Symptomatic Form Of Hemochromatosis Type 1

Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

Haemochromatosis

Iron Storage Disorder

Bronze Diabetes

Hereditary Haemochromatosis

Hlah

Hfe

Hemochromatosis, Hereditary

Diabetes Bronze

Classic Hemochromatosis

Hfe-Associated Hereditary Hemochromatosis

Hemochromatosis Classic

Bronzed Cirrhosis

Familial Hemochromatosis

Genetic Hemochromatosis

Hc

Pigmentary Cirrhosis

Primary Hemochromatosis

Troisier-Hanot-Chauffard Syndrome

Von Recklenhausen-Applebaum Disease

Hemochromatosis 1

Primary Hereditary Hemochromatosis

Bronze Cirrhosis

Microvascular Complications Of Diabetes 7

Microvascular Complications Of Diabetes, Susceptibility To, 7

MVCD7

Diabetic Nephropathy

Proliferative Retinopathy, Diabetic

Proliferative Retinopathy, Diabetic, Susceptibility To

Nonproliferative Retinopathy, Diabetic

Nonproliferative Retinopathy, Diabetic, Susceptibility To

Nephropathy, Diabetic

Nephropathy, Diabetic, Susceptibility To

Diabetic Non-Proliferative Retinopathy

Diabetic Proliferative Retinopathy

Microvascular Complications Of Diabetes, Type 7

Proliferative Diabetic Retinopathy

Transferrin Serum Level Quantitative Trait Locus 2

TFQTL2

Transferrin Serum Level Qtl2

Variegate Porphyria

Porphyria Variegata

Protoporphyrinogen Oxidase Deficiency

VP

Ppox Deficiency

Porphyria, South African Type

Porphyria Variegata, Susceptibility To

Protocoproporphyria

Porphyria Variegate

Porphyria South African Type

Pv

Porphyria, Variegate

Vp - [Variegate Porphyria]

Porphyria Cutanea Tarda

Hepatoerythropoietic Porphyria

HEP

Uroporphyrinogen Decarboxylase Deficiency

Pct

Pct, Type Ii

Porphyria, Hepatocutaneous Type

Urod Deficiency

Porphyria, Hepatoerythropoietic

Porphyria Cutanea Tarda, Susceptibility To

Familial Porphyria Cutanea Tarda

Porphyria Cutanea Tarda, Type Ii

Pct, 'Familial' Type

Porphyria, Hepatic

FPCT

Pct Type Ii

Porphyria Cutanea Tarda Type Ii

Porphyria Hepatocutaneous Type

Heterozygous Uroporphyrinogen Decarboxylase Deficiency

Urod - [Uroporphyrinogen Decarboxylase] Deficiency

Pct - [Porphyria Cutanea Tarda]

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Paine Syndrome

Pain Disorder

Pain

Microcephaly With Spastic Diplegia

Pain Syndrome

Familial Porphyria Cutanea Tarda

Familial Pct

F-Pct

Porphyria Cutanea Tarda, Type Ii

Type Ii Pct

Urod-Related Porphyria Cutanea Tarda

Porphyria Cutanea Tarda Type Ii

Porphyria Cutanea Tarda, Familial Type

Porphyria Cutanea Tarda

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Alzheimer'S Disease 1

Alzheimer Disease Type 1

Alzheimer'S Disease 1, Early Onset

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Inherited Cancer-Predisposing Syndrome

Hereditary Cancer-Predisposing Syndrome

Bap1 Tumor Predisposition Syndrome

Bap1-Related Tumor Predisposition Syndrome

Common Syndrome

Bap1 Cancer Syndrome

Bap1-Tpds

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms

Tumor Predisposition Syndrome

Tumor Susceptibility Linked To Germline Bap1 Mutations

Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms

Tumor Predisposition

Iron Metabolism Disease

Iron Deficiency

Iron Disorder

Iron Metabolism Disorders

Disorder Of Iron Metabolism

Iron

Fe Deficiency

Iron Storage Disease

Iron Storage Disorder

Hemochromatosis Type 2

Juvenile Hemochromatosis

Juvenile Hereditary Hemochromatosis

Hfe2

Jhh

Hemochromatosis Juvenile

Iron Overload Disease Juvenile

Hemochromatosis, Juvenile

Hemochromatosis, Type 2

Hemochromatosis

Hemochromatosis, Type 1

Siderosis

Pulmonary Siderosis

Deposition Of Iron

Arc-Welders' Disease

Arc-Welders' Lung

Arc-Welders' Nodulation

Arc-Welders' Pneumoconiosis

Iron Oxide Lung

Iron Pneumoconiosis

Pneumoconiosis Siderotico

Siderotic Lung Disease

Steel Grinders' Disease

Welders' Lung

Welders' Siderosis

Lung Fibrosis With Siderosis

Porphyria Cutanea Tarda, Type I

Sporadic Porphyria Cutanea Tarda

Pct, Type I

Pct, 'Sporadic' Type

Porphyria Cutanea Tarda Type I

Porphyria Cutanea Tarda, Sporadic Type

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Arthropathy

Ankylosis Of Ankle And Foot Joint

Ankylosis Of Forearm Joint

Ankylosis Of Hand Joint

Ankylosis Of Joint Of Ankle And/Or Foot

Ankylosis Of Joint Of Forearm

Ankylosis Of Joint Of Hand

Ankylosis Of Joint Of Lower Leg

Ankylosis Of Joint Of Multiple Sites

Ankylosis Of Joint Of Pelvic Region And Thigh

Ankylosis Of Joint Of Shoulder Region

Ankylosis Of Joint Of Upper Arm

Ankylosis Of Lower Leg Joint

Ankylosis Of Multiple Joints

Ankylosis Of Upper Arm Joint

Infectious Arthropathy

Joint Ankylosis Of The Ankle And Foot

Joint Ankylosis Of The Ankle And/Or Foot

Joint Ankylosis Of The Forearm

Joint Ankylosis Of The Hand

Joint Ankylosis Of The Lower Leg

Joint Ankylosis Of The Pelvic Region And Thigh

Joint Ankylosis Of The Shoulder Region

Joint Ankylosis Of The Upper Arm

Joint Diseases

Joint Disease

Arthropathy Associated With Infection

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Hemochromatosis, Type 3

Hemochromatosis Type 3

HFE3

Hemochromatosis Due To Defect In Transferrin Receptor 2

Tfr2-Related Hemochromatosis

Tfr2-Related Hereditary Hemochromatosis

Hemochromatosis 3

Iron Overload In Africa

African Iron Overload

Bantu Siderosis

African Hemochromatosis

Hereditary Iron Overload And African Americans

African Nutritional Hemochromatosis

African Siderosis

Rare Hereditary Hemochromatosis

Iron Overload

Iron Overload Disease

Idiopathic Haemosiderosis

Hemosiderosis

Porphyria

Hematoporphyria

Porphyrias

Disorder Of Porphyrin And Hem Metabolism

Disorder Of Porphyrin Metabolism

Porphyrinopathy

Porphyrin Disorder

Disorder Of Porphyrin And Heme Metabolism

Disorders Of Porphyrin Metabolism

Hyperferritinemia With Or Without Cataract

Hyperferritinemia-Cataract Syndrome

Hhcs

Hereditary Hyperferritinemia With Congenital Cataracts

Hyperferritinemia, Hereditary, With Congenital Cataracts

Bonneau-Beaumont Syndrome

HRFTC

Hereditary Hyperferritinemia-Cataract Syndrome

Cataract-Hyperferritinemia Syndrome

Hyperferritinemia Cataract Syndrome

Hereditary Hyperferritinemia Cataract Syndrome

Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder

Liver Cirrhosis

Cirrhosis

Cirrhosis Of Liver

CIRRH

Cryptogenic Cirrhosis

Cirrhosis, Cryptogenic

Cirrhosis Nos

Beta-Thalassemia

Beta Thalassemia

Cooley'S Anemia

Mediterranean Anemia

Beta Thalassemia Intermedia

Erythroblastic Anemia

Thalassemia, Hispanic Gamma-Delta-Beta

Thalassemia Major

Thalassemia Minor

Beta-Plus-Thalassemia

Thalassemia, Beta

Beta Thalassemia Major

Beta Thalassemia Minor

Thalassemias, Beta-

Microcytemia, Beta Type

Thalassemia, Beta Type

B-THAL

Mediterranean Anaemia

Beta Thalassaemia Syndrome

Mediterranean Disease

Beta Thalassaemia Disease

Hfe Hemochromatosis

Hemochromatosis Type 1

Hfe-Associated Hemochromatosis

Hfe-Hh

Iron Deficiency Anemia

Iron-Deficiency Anemia

Fe Deficiency Anaemia

Ida - [Iron Deficiency Anemia]

Fe - [Iron] Deficiency Anemia Nos

Chondrocalcinosis

Pseudogout

Calcium Pyrophosphate Deposition Disease

Familial Chondrocalcinosis

Chondrocalcinosis Nos

Cppd - [Calcium Pyrophosphate Deposition Disease]

Cpdd - [Calcium Pyrophosphate Deposition Disease]

Chondrocalcinosis, Due To Pyrophosphate Crystals, Involving Unspecified Site

Chondrocalcinosis, Cause Unspecified

Chondrocalcinosis Due To Pyrophosphate Crystals

Chondrocalcinosis Articularis

Calcium Pyrophosphate Arthritis And Periarthritis

Wilson Disease

Hepatolenticular Degeneration

WD

Wilson'S Disease

WND

Westphal-Strumpell Syndrome

Copper Storage Disease

Cerebral Pseudosclerosis

Westphal Pseudosclerosis

Hepatolenticular Degeneration Syndrome

Copper Retention

Hepatocerebral Degeneration

Kinnier-Wilson Disease

Neurohepatic Degeneration

Progressive Hepatolenticular Degeneration

Lenticular Degenerative Disease

Wilson'S Syndrome

Lenticular Syndrome

Hemosiderosis

Haemosiderosis

Iron Overload

Hepatitis C

Chronic Hepatitis C

Hepatitis C Infection

Hepatitis Nona Nonb

Nanbh

Viral Hepatitis C

Hepatitis C Chronic

Hepatitis C, Chronic

Chronic Type C Viral Hepatitis

Chronic Hcv - [Hepatitis C Virus] Infection

Hepatitis C Nos

Hepatitis C Infection Nos

Hepatitis C-Related Cirrhosis

Type C Viral Hepatitis

Hep C Nos

Viral Hepatitis

Animal Viral Hepatitis

Hepatitis, Viral, Animal

Human Viral Hepatitis

Viral Hepatitis With Hepatic Coma

Hereditary Spherocytosis

Congenital Spherocytic Hemolytic Anemia

Spherocytic Anemia

Congenital Spherocytosis

Spherocytosis, Type 1

Minkowski Chauffard Syndrome

Hs

Minkowski-Chauffard Disease

Minkowski-Chauffard Syndrome

Spherocytosis Hereditary

Spherocytosis, Hereditary

Anemia, Hereditary Spherocytic Hemolytic

Thalassemia

Sickle-Cell Thalassemia With Crisis

Sickle-Cell Thalassemia Without Crisis

Thalassemia Hb-S Disease With Crisis

Thalassemia Hb-S Disease Without Crisis

Thalassemias

Hereditary Leptocytosis

Haemoglobin Thalassaemia Disorder

Thalassaemia Syndrome

Thalassaemia Nos

Thalassemia Variants

End Stage Renal Disease

End Stage Renal Failure

End-Stage Kidney Disease

Kidney Failure, Chronic

Chronic Kidney Disease Stage 5

Alpha-1-Antitrypsin Deficiency

Alpha 1-Antitrypsin Deficiency

Alpha-1 Antitrypsin Deficiency

Aat Deficiency

Aatd

A1ATD

Emphysema Due To Aat Deficiency

A1at Deficiency

Emphysema-Cirrhosis, Due To Aat Deficiency

Hemorrhagic Diathesis Due To Antithrombin Pittsburgh

Alpha-1 Antiprotease Deficiency

Alpha 1 Antitrypsin Deficiency

Aat

Alpha-1 Protease Inhibitor Deficiency

Alpha-1 Related Emphysema

Genetic Emphysema

Hereditary Pulmonary Emphysema

Inherited Emphysema

Alpha-1-Proteinase Inhibitor Deficiency

Alpha1-Antitrypsin Deficiency

Alpha-1-Antitrypsin Deficiency, Autosomal Recessive

Emphysema, Hereditary Pulmonary

Aatd - [Alpha-1-Antitrypsin] Deficiency

Liver Disease

Liver Failure

Liver Diseases

Abnormality Of The Liver

Liver Dysfunction

Disorder Of Liver

Hepatic Disorder

Hepatic Disease

Disease Of Bilirubin Metabolism

Disorder Of Bilirubin Metabolism

Liver Decompensation

Liver Function Failure

Hepatic Failure Nos

Liver Failure Nos

End Stage Liver Disease

Decompensated Liver Failure

Decompensation Of Liver Function

Hepatic Decompensation

Hepatic Insufficiency

Liver Cell Necrosis With Hepatic Failure

Liver Insufficiency

Decompensated Liver Disease

End Stage Liver Failure

Liver Necrosis With Hepatic Failure

Acute Myocardial Infarction

Cardiac Attack

Heart Attack

Hemochromatosis, Type 2b

Hemochromatosis Type 2b

HFE2B

Hemochromatosis 2b

Congenital Dyserythropoietic Anemia

Congenital Dyshaematopoietic Anaemia

Dyserythropoietic Anemia, Congenital

Cda

Anemia, Dyserythropoietic, Congenital

Anemia Dyserythropoietic Congenital

Cda - [Congenital Dyserythropoietic Anaemia]

Dyserythropoietic Dyshaematopoietic Congenital Anaemia

Dyshaematopoietic Anaemia

Dyserythropoietic Anaemia

Hepatic Veno-Occlusive Disease

Veno-Occlusive Disease

Sinusoidal Obstruction Syndrome

Hepatic Venoocclusive Disease

Venoocclusive Disease

Hepatic Vein Thrombosis

Budd-Chiari Syndrome

Hepatic Vein Occlusion

Veno-Occlusive Disease Of The Liver

Hemochromatosis, Type 4

Hemochromatosis Type 4

Hemochromatosis Due To Defect In Ferroportin

HFE4

Hemochromatosis, Autosomal Dominant

Autosomal Dominant Hereditary Hemochromatosis

Ferroportin Disease

Hemochromatosis 4

Hemochromatosis Autosomal Dominant

Myocardial Infarction

Heart Attack

Myocardial Infarction, Susceptibility To

Myocardial Infarction 1

Myocardial Infarction, Protection Against

Myocardial Infarction, Decreased Susceptibility To

Myocardial Infarction, Decreased

Myocardial Infarct

MCI1

Premature Myocardial Infarction

Myocardial Infarction, Susceptibility To, Type 1

Non-Alcoholic Fatty Liver Disease

Fatty Liver

Non-Alcoholic Fatty Liver

Nafld

Nonalcoholic Fatty Liver Disease

Nonalcoholic Steatohepatitis

Steatosis

Nafl

Nash

Non-Alcoholic Steatohepatitis

Susceptibility To Nonalcoholic Fatty Liver Disease

Steatohepatitis

Fatty Degeneration

Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis

Nafld Without Nash

Nafld Without Mention Of Nash

Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia

Arthritis

Inflammatory Joint Disease

Inflammatory Disorder Of Joint

Diabetes Mellitus

Diabetes

Atransferrinemia

Familial Hypotransferrinemia

Congenital Atransferrinemia

Hypotransferrinemia, Familial

Congenital Hypotransferrinemia

ATRAF

Sideroblastic Anemia

Anemia Sideroblastic

Anemia, Sideroblastic

Anemia, Hypochromic With Iron Loading

Alcohol Use Disorder

Alcohol Abuse

Alcoholism

Ethanol Abuse

Alcohol Addiction

Alcohol Dependence

Alcoholic Intoxication, Chronic

Alcohol-Related Disorders

Hemochromatosis, Type 5

Hemochromatosis Type 5

HFE5

Fth1-Related Iron Overload

Iron Overload, Autosomal Dominant

Fth1-Associated Iron Overload

Hemochromatosis 5

Autosomal Dominant Iron Overload

Friedreich Ataxia

Friedreich Ataxia 1

FRDA

Friedreich Ataxia With Retained Reflexes

Frda1

Fa

Friedreich'S Ataxia

Hereditary Spinal Ataxia

Fa1

Friedreich'S Tabes

Hereditary Spinal Sclerosis

Spinocerebellar Ataxia, Friedreich

Friedreich Spinocerebellar Ataxia

Friedrich'S Ataxia

Acute Porphyria

Porphyrias, Hepatic

Hepatic Porphyria

Porphyria Hepatic

Acute Intermittent Porphyria

Beta-Thalassemia Major

Cooley'S Anemia

Cooley Anemia

Mediterranean Anemia

Varicose Veins

Varices

Varix

Venous Ectasia

Venous Varices

Varicosity

Hypertrichosis
Anemia, Sideroblastic, 1

Xlsa

X-Linked Sideroblastic Anemia

Hypochromic Anemia

Anh1

Hereditary Iron-Loading Anemia

Anemia, Sideroblastic, X-Linked

Anemia, Hereditary Sideroblastic

Erythroid 5-Aminolevulinate Synthase Deficiency

Hereditary Sideroblastic Anemia

SIDBA1

Anemia, Hypochromic

Sideroblastic Anemia 1

Anemia Hypochromic

X Chromosome-Linked Sideroblastic Anemia

Sideroblastic Anaemia 1

X-Linked Sideroblastic Anaemia

Anemia Hereditary Sideroblastic

Anemia Sex-Linked Hypochromic Sideroblastic

Congenital Sideroblastic Anemia

Sideroblastic Anemia X-Linked

Anemia, Sex-Linked Hypochromic Sideroblastic

Congenital Sideroblastic Anaemia

X-Linked Pyridoxine-Responsive Sideroblastic Anemia

Anemia Congenital Sideroblastic

Anemia, Sideroblastic, Type 1

Sex-Linked Hypochromic Sideroblastic Anaemia

Autosomal Recessive Sideroblastic Anaemia

Familial Sex Linked Hypochromic Anaemia

Hypogonadotropic Hypogonadism

Klinefelter Syndrome

Klinefelter'S Syndrome

Xxy Syndrome

Xxy Trisomy

Hypogonadotropism

47, Xxy

Congenital Idiopathic Hypogonadotropic Hypogonadism

Isolated Congenital Gonadotropin Deficiency

47,Xxy Syndrome

47, Xxy Syndrome

Klinefelters Syndrome

Hypogonadism

Klinefelter Syndrome In Males

Klinefelter Syndrome, Unspecified

Klinefelter Syndrome Karyotype 47, Xxy

Alcoholic Liver Cirrhosis

Alcoholic Cirrhosis

Portal Cirrhosis

Alcoholic Cirrhosis Of Liver

Liver Cirrhosis, Alcoholic

Laennec'S Cirrhosis

Laennec'S Cirrhosis, Alcoholic

Alcohol Cirrhosis

Alcoholic Laennec Cirrhosis

Alcoholic Cirrhosis Nos

Etoh Cirrhosis

Alcohol Hepatic Cirrhosis

Alcohol Liver Cirrhosis

Laennec Cirrhosis

Cutaneous Porphyria

Porphyria, Erythropoietic

Erythropoietic Porphyria

Parkinson Disease 8, Autosomal Dominant

Parkinson Disease 8

Autosomal Dominant Parkinson Disease 8

PARK8

Parkinson'S Disease 8

Autosomal Dominant Parkinson'S Disease 8

Parkinson Disease-8

Parkinson Disease, Type 8, Autosomal Dominant

Hemoglobinopathy

Hemoglobinopathies

Celiac Disease 1

Celiac Disease

Coeliac Disease

Celiac Sprue

Celiac Disease, Susceptibility To

Gluten-Sensitive Enteropathy

Nontropical Sprue

Sprue

CELIAC1

Celiac Disease, Susceptibility To, 1

Celiac Sprue 1

Celiac Sprue, Susceptibility To, 1

Gluten-Sensitive Enteropathy 1

Gluten-Sensitive Enteropathy, Susceptibility To, 1

Idiopathic Steatorrhea

Cœliac Disease

Gluten Intolerance

Gluten-Induced Enteropathy

Gluten Enteropathy

Celiac Disease, Susceptibility To, Type 1

Childhood Celiac Disease

Coeliac Rickets

Gee Disease

Gee-Herter Disease

Heubner-Herter Disease

Idiopathic Steatorrhoea

Thaysen'S Disease

Herter Gee Syndrome

Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

Beta-Thalassemia Intermedia
Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Diabetic Neuropathy

Diabetic Neuropathies

Coproporphyria, Hereditary

Hereditary Coproporphyria

Coproporphyria

Coproporphyrinogen Oxidase Deficiency

HCP

Cpo Deficiency

Cpox Deficiency

Cpx Deficiency

Hereditary Coproporphyria Porphyria

Cpro Deficiency

Coproporphyria Hereditary

Porphyria Hepatica Ii

Porphyria Hepatica Coproporphyria

Porphyria, Hereditary Coproporphyria

Harderoporphyria

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

Hemolytic Anemia

Anemia, Hemolytic

Anemia Hemolytic

Anaemia Due To Other Disorders Of Glutathione Metabolism

Chronic Non Spherocytic Anaemia

G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

Favism Anaemia

Haemolytic Anaemia Due Tog6pd Deficiency

Favism

Pentose Phosphate Pathway Disorder Anaemia

Anaemia Due To Pentose Phosphate Pathway Defect

Microcytic Anemia

Iron-Refractory Iron Deficiency Anemia

Alpha-Thalassemia

Alpha Thalassemia

Alpha Thalassaemia

Alpha Plus Thalassemia

Thalassemia, Alpha-

Thalassemias, Alpha-

A-Thalassemia

Α-Thalassemia

A-THAL

Thalassemia

Alpha Thalassaemia Syndrome

Common Variable Immunodeficiency

Cvid

Common Variable Agammaglobulinemia

Common Variable Immune Deficiency

Acquired Hypogammaglobulinemia

Hypogamma-Globulinemia, Acquired

Idiopathic Immunoglobulin Deficiency

Primary Antibody Deficiency

Primary Hypogammaglobulinemia

Acquired Agammaglobulinemia

Sporadic Hypogammaglobulinemia

Common Variable Hypogamma-Globulinemia

Immunoglobulin Deficiency, Late-Onset

Common Variable Hypogammaglobulinemia

Immunodeficiency, Common Variable

Chronic Congestive Splenomegaly
Mineral Metabolism Disease

Mineral Metabolism Disorder

Disorder Of Mineral Metabolism

Aceruloplasminemia

Cerebellar Ataxia

Hypoceruloplasminemia

Hemosiderosis, Systemic, Due To Aceruloplasminemia

Familial Apoceruloplasmin Deficiency

Hereditary Ceruloplasmin Deficiency

Deficiency Of Ferroxidase

Hypoceruloplasminemia, Hereditary

Ceruloplasmin Deficiency

Systemic Hemosiderosis Due To Aceruloplasminemia

ACERULOP

Gilbert Syndrome

Gilbert Disease

Gilbert'S Disease

Gilbert'S Syndrome

Cholemia, Familial

Familial Nonhemolytic Jaundice

Meulengracht Syndrome

Gilbert Syndrome, Susceptibility To

Hyperbilirubinemia, Gilbert Type

Hblrg

Hyperbilirubinemia, Arias Type

Hyperbilirubinemia I

Constitutional Hyperbilirubinemia

Gilbert-Meulengracht Syndrome

Hereditary Nonhemolytic Jaundice

Hyperbilirubinemia Arias Type

Hyperbilirubinemia Type 1

Constitutional Liver Dysfunction

Gilbert-Lereboullet Syndrome

Hyperbilirubinemia 1

Unconjugated Benign Bilirubinemia

GILBS

Gilberts Syndrome

Familial Nonhaemolytic Jaundice

Constitutional Hyperbilirubinaemia

Hereditary Nonhaemolytic Bilirubinaemia

Familial Nonhaemolytic Bilirubinaemia

Idiopathic Hyperbilirubinaemia

Icterus Intermittens Juvenilis

Chronic Intermittent Juvenile Jaundice

Low-Grade Chronic Hyperbilirubinaemia Syndrome

Benign Unconjugated Bilirubinaemia Syndrome

Hereditary Nonhaemolytic Jaundice

Idiopathic Unconjugated Hyperbilirubinaemia

Gilbert--Lereboullet Syndrome

Constitutional Hepatic Dysfunction

Meulengracht Icterus

Cholaemia Familiaris Simplex

Familial Cholaemia

Congenital Familial Cholaemia

Physiologic Cholaemia

Hyperbilirubinaemia Type 1

Gilbert Cholaemia

Autosomal Dominant Beta Thalassemia

Inclusion Body Beta-Thalassemia

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Neurodegeneration With Brain Iron Accumulation

Nbia

Neurodegeneration With Brain Iron Accumulation Disorders

Neurodegeneration, With Brain Iron Accumulation

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Canis familiaris HFE VGNC VGNC:41671
Felis catus HFE VGNC VGNC:67561
Mus musculus HFE MGD MGI:109191
Bos taurus HFE VGNC VGNC:29831
Rattus norvegicus HFE RGD RGD:2793
Macaca mulatta HFE VGNC VGNC:73371
Macaca fascicularis HFE NCBI NCBI:102139119
Others HFE NCBI