1. Gene
  2. HLA-A - major histocompatibility complex, class I, A Gene

HLA-A - major histocompatibility complex, class I, A Gene

中文名称:主要组织相容性复合体,I 类,A

种属: Homo sapiens

同用名: HLAA

基因 ID: 3105 | 基因类型: protein coding

关于 HLA-A

Cytogenetic location: 6p22.1 Genomic coordinates (GRCh38): 6:29,942,532-29,945,870 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 564 orthologues, 22 paralogues and is associated with 85 phenotypes. Ubiquitous expression in colon (RPKM 288.9), lung (RPKM 280.7) and 25 other tissues.

功能概要

HLA-A 属于 HLA I 类重链旁系同源物。这种 I 类分子是由重链和轻链 (β2 微球蛋白) 组成的异二聚体。重链锚定在膜中。 I 类分子通过呈递源自内质网腔的肽使它们可以被细胞毒性 T 细胞识别,从而在免疫系统中发挥核心作用。它们在几乎所有细胞中都有表达。重链约为 45 kDa,其基因包含 8 个外显子。外显子 1 编码前导肽,外显子 2 和 3 编码与肽结合的 alpha1 和 alpha2 结构域,外显子 4 编码 alpha3 结构域,外显子 5 编码跨膜区域,外显子 6 和 7 编码细胞质尾部。外显子 2 和外显子 3 内的多态性负责每个一级分子的肽结合特异性。这些多态性的分型通常用于骨髓和肾移植。已经描述了超过 6000 个 HLA-A 等位基因。 HLA 系统在传染病的发生和结果中起着重要作用,包括由疟原虫、人类免疫缺陷病毒 (HIV) 和严重急性呼吸系统综合症冠状病毒 (SARS-CoV) 引起的传染病。据报道,导致 2019 年冠状病毒病 (COVID-19) 的新型冠状病毒 SARS-CoV-2 的结构尖峰和核衣壳蛋白包含多个具有预测 HLA 限制的 I 类表位。个体 HLA 遗传变异可能有助于解释人群对病毒的不同免疫反应。[RefSeq 提供,2020 年 8 月]

HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a LIGHT chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting Peptides derived from the endoplasmic reticulum lumen so that they can be recognized by cytotoxic T cells. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. More than 6000 HLA-A alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria Parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020]

HLA-A 基因产物(6)

mRNA Protein Name
NM_001242758.1 NP_001229687.1 HLA class I histocompatibility antigen, A alpha chain isoform A*01:01:01:01 precursor
NM_002116.8 NP_002107.3 HLA class I histocompatibility antigen, A alpha chain isoform A*03:01:01:01 precursor
NM_001242758.1 NP_001229687.1 HLA class I histocompatibility antigen, A alpha chain isoform A*01:01:01:01 precursor
NM_002116.8 NP_002107.3 HLA class I histocompatibility antigen, A alpha chain isoform A*03:01:01:01 precursor
NM_001242758.1 NP_001229687.1 HLA class I histocompatibility antigen, A alpha chain isoform A*01:01:01:01 precursor
NM_002116.8 NP_002107.3 HLA class I histocompatibility antigen, A alpha chain isoform A*03:01:01:01 precursor

HLA-A 蛋白结构

MHC_I

MHC_I: pfam00129 (24 - 202)

IgC1_MHC_Ia_HLA-B

IgC1_MHC_Ia_HLA-B: cd21026 (203 - 298)

IgC1_MHC_Ia_HLA-B

IgC1_MHC_Ia_HLA-B: cd21026 (207 - 215)

IgC1_MHC_Ia_HLA-B

IgC1_MHC_Ia_HLA-B: cd21026 (223 - 232)

IgC1_MHC_Ia_HLA-B

IgC1_MHC_Ia_HLA-B: cd21026 (236 - 242)

IgC1_MHC_Ia_HLA-B

IgC1_MHC_Ia_HLA-B: cd21026 (244 - 247)

IgC1_MHC_Ia_HLA-B

IgC1_MHC_Ia_HLA-B: cd21026 (251 - 259)

IgC1_MHC_Ia_HLA-B

IgC1_MHC_Ia_HLA-B: cd21026 (262 - 272)

IgC1_MHC_Ia_HLA-B

IgC1_MHC_Ia_HLA-B: cd21026 (279 - 286)

IgC1_MHC_Ia_HLA-B

IgC1_MHC_Ia_HLA-B: cd21026 (292 - 297)

MHC_I_C

MHC_I_C: pfam06623 (336 - 363)

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蛋白主名 其他名称

HLA class I histocompatibility antigen, A alpha chain

HLA class I histocompatibility antigen, A-1 alpha chain

重组 HLA-A 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70391 HLA-A*0201 AFP complex Protein, Human (HEK293, His) FMNKFIYEI&P61769 (I21-M119)&P01892 (G25-I308) ≥95%
HY-P70392 HLA-A*0201 GP100 complex Protein, Human (A269V, HEK293, His) IMDQVPFSV&P61769 (I21-M119)&P04439 (G25-I308, A269V) ≥95%
HY-P70393 HLA-A*0201 HPV16 E7 complex Protein, Human (HEK293, His) P61769 (I21-M119)&P01892 (G25-I308)&YMLDLQPET ≥95%
HY-P70394 HLA-A*0201 NY-ESO-1 complex Protein, Human (HEK293, His) P61769 (I21-M119)&P01892 (G25-I308, A269V)&SLLMWITQC ≥95%
HY-P70395 HLA-A*0201 WT-1 complex Protein, Human (HEK293, His) P61769 (I21-M119)&P01892 (G25-I308, A269L)&RMFPNAPYL ≥95%
HY-P72288 HLA-A Protein, Human (His) P04439-1 (G25-I308) ≥95%
HY-P72377 HLA-A*0201 GP100 complex Protein, Human (Biotinylated, HEK293, Avi-His) P61769 (I21-M119)&P01892 (G25-I308) ≥95%
HY-P77781 HLA-A*0301 KRAS G12V Complex Protein, Human (HEK293, His-Avi) NP_002107.3 (G25-T305)&P61769 (I21-M119)&VVGAVGVGK ≥95%
HY-P77782 HLA-A*0301 KRAS G12V Complex Tetramer Protein, Human (HEK293, His-Avi) NP_002107.3 (G25-T305)&P61769 (I21-M119)&VVGAVGVGK ≥95%
HY-P77783 HLA-A*1101 KRAS G12D Protein, Human (HEK293, His-Avi) AAV53343 (G25-T305)&P61769 (I21-M119)&VVVGADGVGK ≥95%
HY-P77784 HLA-A*1101 KRAS G12D Complex Protein, Human (Biotinylated, VVVGADGVGK, HEK293, His-Avi) AAV53343 (G25-T305)&P61769 (I21-M119)&VVVGADGVGK ≥95%
HY-P77785 HLA-A*1101 KRAS G12D Tetramer Protein, Human (HEK293, His-Avi) AAV53343 (G25-T305)&P61769 (I21-M119)&VVVGADGVGK ≥95%
HY-P77786 HLA-A*1101 KRAS G12V Complex Protein, Human (HEK293, His-Avi) AAV53343 (G25-T305)&P61769 (I21-M119)&VVGAVGVGK ≥95%
HY-P77787 HLA-A*1101 KRAS G12V Complex Protein, Human (Biotinylated, VVGAVGVGK, HEK293, His-Avi) AAV53343 (G25-T305)&P61769 (I21-M119)&VVGAVGVGK ≥95%
HY-P77788 HLA-A*1101 KRAS G12V Complex Tetramer Protein, Human (HEK293, His-Avi) AAV53343 (G25-T305)&P61769 (I21-M119)&VVGAVGVGK ≥95%
HY-P77790 HLA-A*0301 KRAS WT Protein, Human (Biotinylated, HEK293, His-Avi) NP_002107.3 (G25-T305)&P61769 (I21-M119)&VVVGAGGVGK ≥95%
HY-P77789 HLA-A*0301 KRAS WT Protein, Human (HEK293, His-Avi) NP_002107.3 (G25-T305)&P61769 (I21-M119)&VVVGAGGVGK ≥95%

关联疾病

疾病名称 别名
Severe Cutaneous Adverse Reaction

Stevens-Johnson Syndrome

Toxic Epidermal Necrolysis

Drug-Induced Stevens Johnson Syndrome

Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum

Susceptibility To Severe Cutaneous Adverse Reaction

Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis

Lyell'S Syndrome

Lyell Syndrome

Severe Cutaneous Adverse Reaction, Susceptibility To

Hypersensitivity Syndrome, Carbamazepine-Induced, Susceptibility To

Hypersensitivity Syndrome, Carbamazepine-Induced

Stevens-Johnson Syndrome, Susceptibility To

Toxic Epidermal Necrolysis, Susceptibility To

Sjs/Ten

Susceptibility To Severe Cutaneous Adverse Reaction Ity To

Mycoplasma-Induced Stevens Johnson Syndrome

Dermatostomatitis, Stevens Johnson Type

Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum

Sjs-Ten

Toxic Epidermolysis

SJS

Dermatostomatitis Stevens Johnson Type

Ten

Sjs/Ten - [Stevens-Johnson Syndrome And Toxic Epidermal Necrolysis]

Ten - [Toxic Epidermal Necrolysis]

Birdshot Chorioretinopathy

Birdshot Chorioretinitis

Bscr

Birdshot Retinochoroiditis

Birdshot Retinochoroidopathy

Vitiliginous Choroiditis

Multiple Small, Cream-Colored Lesions, Symmetrically Scattered Mainly Around The Optic Disk

Severe Acute Respiratory Syndrome

Sars

Sars-Cov Infection

Sars-1

Sar Deficiency

Sars - [Severe Acute Respiratory Syndrome]

Uveitis
Autoimmune Disease

Autoimmune Diseases

Autoimmune Hypersensitivity Disease

Hypersensitivity Reaction Type Ii Disease

Type Ii Hypersensitivity Reaction Disease

Pars Planitis

Posterior Cyclitis

Vitritis

Intermediate Uveitis

Peripheral Retinal Inflammation

Uveitis, Intermediate

Autoimmune Uveitis
Malaria

Malaria, Susceptibility To

Malaria, Resistance To

Malaria, Cerebral

Cerebral Malaria

Malaria, Severe, Susceptibility To

Malaria, Severe, Resistance To

Malaria, Cerebral, Susceptibility To

Induced Malaria

Malaria, Vivax, Protection Against

Malaria, Severe

Malaria, Cerebral, Reduced Risk Of

Malaria, Protection Against

Resistance To Malaria Due To G6pd Deficiency

Malaria Due To G6pd Deficiency

Malarial Encephalitis

CM

Malaria Cerebral

Susceptibility To Malaria

Acute Pernicious Fever

Aestivo-Autumnal Fever

Aestivo Autumnal Malaria

Chagres Fever

Continued Malaria Fever

Estivo-Autumnal Fever

Estivo-Autumnal Malaria

Estivo-Autumnal Malarial Fever

Falciparum Fever

Malignant Tertian Fever

Malignant Tertian Malaria

Pernicious Intermittent Fever

Pernicious Malaria

Quotidian Malaria

Subtertian Fever

Subtertian Malaria Fever

Subtertian Malignant Tertian Malaria

Tropical Malaria

Algid Malaria

Bilious Haemoglobinuric Fever

Black Water Fever

Blackwater Fever

Malarial Blackwater Fever

Severe Malarial Falciparum

West African Fever

Malarial Haematinuria

Haemoglobinuric Fever

Haemoglobinuric Malaria

Severe Plasmodium Falciparum Malaria

Malarial Haemoglobinuria

Malarial Haematuria

Falciparum Malaria [Malignant Tertian]

Malaria Tropica

Malarial Shock

Chagres Virus Disease

Malignant Malaria

Mtm - [Malignant Tertian Malaria]

Tm -[Malignant Tertian Malaria]

Panama Fever

St - [Subtertian Malaria]

Malarial Quotidian

Benign Tertian Malaria

Tertian Ague

Vivax Fever

Plasmodium Vivax Malaria Nos

Btm - [Benign Tertian Malaria]

Bt - [Benign Tertian Malaria]

Vivax Malaria

Benign Tertian Vivax Malaria

Tertian Malaria

Quartan Malaria

Quartan Ague

Quartan Fever

Plasmodium Malariae Malaria Nos

Quartan Malarial

Malaria By Plasmodium Malariae

Malariae Malaria

Ovale Tertian Malaria

Plasmodium Ovale Fever

Malaria Fever By Plasmodium Ovale

Ovale Malaria

Malaria By Plasmodium Ovale

Malarial Ovale

Marsh Fever

Remittent Congestive Fever

Coastal Fever

Remittent Gastric Fever

Miasmatic Fever

Congestive Remittent Fever

Intermittent Fever

Jungle Fever

Paludism

Cameroon Fever

Ague

Corsican Fever

Intermittent Bilious Fever

Disease Due To Plasmodiidae

Malarial Fever

Plasmodiosis

Remittent Fever

Roman Fever

Malaria Fever Nos

Malaria Nos

Paludal Fever

Clinically Diagnosed Malaria

Clinically Diagnosed Malaria Without Parasitological Confirmation

Congestive Fever

Malarial Cachexia

Marsh Cachexia

Paludal Cachexia

Recurrent Malaria

Remittent Malaria

Pure Red-Cell Aplasia

Pure Red Cell Aplasia

Primary Red Cell Aplasia

Red Cell Hypoplasia

Prca

Red-Cell Aplasia Pure

Red-Cell Aplasia, Pure

Cytomegalovirus Retinitis

Cmv Retinitis

Herpes Zoster

Shingles

Zoster

Herpes Zona

Herpes Zoster Disease

Zona Zoster

Herpes Zoster Of Skin And Mucous Membranes

Zoster Nos

Zoster With Nervous System Involvement

Chromoblastomycosis

Chromomycosis

Mossy Foot Disease

Verrucous Dermatitis

Fonseca Disease

Pedroso Disease

Drechslera Hawaiiensis

Drechslera Infection

Covid-19

2019 Novel Coronavirus

2019-Ncov Infection

Covid19

Sars-Cov-2 Infection

Wuhan Coronavirus Infection

Wuhan Seafood Market Pneumonia Virus Infection

Multiple Sclerosis

MS

Multiple Sclerosis, Susceptibility To

Disseminated Sclerosis

Multiple Sclerosis, Disease Progression, Modifier Of

Insular Sclerosis

Multiple Sclerosis Modifier Of Disease Progression

Multiple Sclerosis, Susceptibility To 1

Multiple Sclerosis, Susceptibility To, 1

Multiple Sclerosis 1

Generalized Multiple Sclerosis

Multiple Sclerosis Variant

Multiple Sclerosis Susceptibility To

Cerebrospinal Sclerosis

Generalised Multiple Sclerosis

Ms - [Multiple Sclerosis]

Disseminated Cerebrospinal Sclerosis

Disseminated Multiple Sclerosis

Disseminated Nervous System Myelosclerosis

Multiple Cerebrospinal Sclerosis

Multiple Combined Sclerosis

Multiple Sclerosis Generalised

Disseminated Brain Sclerosis

Disseminated Spinal Sclerosis

Insular Brain Sclerosis

Miliary Brain Sclerosis

Multiple Combined Sclerosis Of Spinal Cord

Multiple Ascending Sclerosis

Multiple Brain Sclerosis

Multiple Sclerosis Of Brain Stem

Multiple Sclerosis Of The Brain Stem

Multiple Sclerosis Of Cord

Sclérose En Plaques

Plaque Sclerosis

Multiple Sclerosis Of The Spinal Cord

Human Herpesvirus 8

HHV8S

Human Herpesvirus 8, Susceptibility To

Hhv-8

Hhv-8, Susceptibility To

HHV8

Kaposi Sarcoma

Familial Mediterranean Fever

Periodic Fever Syndrome

FMF

Benign Paroxysmal Peritonitis

Periodic Disease

Recurrent Polyserositis

Familial Paroxysmal Polyserositis

Periodic Fever

Familial Mediterranean Fever, Autosomal Recessive

Familial Mediterranean Fever, Ar

Polyserositis, Recurrent

Polyserositis, Familial Paroxysmal

Periodic Peritonitis

Mef

Reimann Periodic Disease

Siegal-Cattan-Mamou Disease

Wolff Periodic Disease

Benign Recurrent Polyserositis

Mediterranean Fever, Familial

ARFMF

Autosomal Recessive Familial Mediterranean Fever

Fever, Mediterranean, Familial, Autosomal Recessive

Hereditary Autoinflammatory Diseases

Fmf - [Familial Mediterranean Fever]

Periodic Polyserositis

Periodic Familial Polyserositis

Periodic Familial Peritonitis

Paroxysmal Polyserositis

Hereditary Amyloid Nephropathy

Familial Recurrent Polyserositis

Familial Non-Neuropathic Amyloidosis

Armenian Disease

Riemann Periodic Disease

Siegal Cattan Mamou Disease

Histoplasmosis

Darling Disease

Reticuloendotheliosis, X-Linked

Infection By Histoplasma Capsulatum

Histoplasma Infection

Reticuloendothelial Cytomycosis

Cytomycosis

Darling Histoplasmosis

African Histoplasmosis

Histoplasmosis Duboisii

Pityriasis Rosea

Pityriasis Circinata

Gibert Pityriasis

Takayasu Arteritis

Aortic Arch Syndrome

Pulseless Disease

Takayasu'S Arteritis

Idiopathic Aortitis

Young Female Arteritis

Aortic Arch Arteritis

Aortic Arches Defect

Aortic Arch Defects

Takayasu Disease

Aortic Arch Syndromes

Takayasu'S Disease

Ta

Obliterative Aortitis

Aortic Arch Giant-Cell Arteritis

Subclavian-Carotid Obstruction Syndrome

Idiopathic Medial Aortopathy And Arteriopathy

Takayasu Syndrome

Obliterative Brachiocephalic Arteritis Syndrome

Raeder-Harbitz Syndrome

Chronic Subclavian-Carotid Obstruction Syndrome

Giant-Cell Aortitis

Takayasu Aortitis

Nonspecific Aortoarteritis

Sclerosing Aortitis And Arteritis

Martorell 2 Syndrome

Young Female Aortic Arch Arteritis Syndrome

Rubella

German Measles

Three Day Measles

Rubella Nos

Graves' Disease

Graves Disease

Exophthalmic Goiter

Basedow'S Disease

Grave'S Disease

Basedow Disease

Toxic Diffuse Goiter

Graves' Hyperthyroidism

Parry Disease

Autoimmune Hyperthyroidism

Toxic Multinodular Goiter

Hemoglobinuria
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]

Cholangitis, Primary Sclerosing

Primary Sclerosing Cholangitis

PSC

Sclerosing Cholangitis

Cholangitis, Sclerosing

Cholangitis Primary Sclerosing

Psc - [Primary Sclerosing Cholangitis]

Optic Neuritis

Inflammatory Optic Neuropathy

Hemorrhagic Cystitis
Nasopharyngeal Carcinoma

Malignant Neoplasm Of Nasopharynx

Npc

Nasopharyngeal Cancer

Nasopharyngeal Carcinoma 1

Nasopharynx Carcinoma

Nasopharyngeal Neoplasms

Npca

Carcinoma Of Nasopharynx

Malignant Nasopharyngeal Tumor

Nasopharynx Cancer

Squamous Cell Carcinoma Of The Nasopharynx

Nasopharyngeal Neoplasm

Cancer Of Nasopharynx

Tetanus

Lockjaw

Clostridial Tetanus

Infection Due To Clostridium Tetani

Lock-Jaw

Leptospirosis

Fort Bragg Fever

Weil Disease

Leptospirosis Icterohaemorrhagica

Nanukayami Fever

Canicola Fever

Hemorrhagic Jaundice

Mud Fever

Stuttgart Disease

Swamp Fever

Rat Catcher'S Yellows

Spirochetal Jaundice

Weil'S Disease

Cane-Cutter Fever

Icterohemorrhagic Fever

Rice-Field Fever

Swineherd'S Disease

Weil Syndrome

Nanukayami

Canine Leptospirosis

Equine Infectious Anemia

Leptospirosis Canicola

Fever Due To Leptospira Autumnalis

Gikiyami

Leptospira Interrogans Autumnalis Infection

Leptospira Interrogans Canicola Infection

Leptospira Interrogans Hebdomadis Infection

Leptospira Interrogans Pomona Infection

Nanukayami Disease

Pretibial Fever

Seven-Day Fever

Eia - [Equine Infectious Anaemia]

Leptospira Interrogans Infection

Echinococcosis

Hydatidosis

Echinococcal Disease

Echinococcosis Of Liver

Hepatic Echinococcosis

Hydatid Disease

Liver Echinococcus

Pulmonary Echinococcosis

Hydatids

Echinococcosis, Hepatic

Echinococcosis, Pulmonary

Unilocular Echinococcosis

Echinococcus Disease

Echinococcus Granulosus Infection

Echinococcus Multilocularis Infection

Dog Tapeworm Infection

Echinococcus Granulosus Infestation

Echinococciasis

Cystic Echinococcosis

Alopecia Areata

Aa

Alopecia Celsi

Alopecia Circumscripta

Cazenave'S Vitiligo

Celsus' Vitiligo

Diffuse Alopecia

Jonston'S Alopecia

Marginal Alopecia

Pseudopelade

Circumscribed Alopecia

Alopecia Cicatrisata

Patchy Alopecia

Alopecia

Aa - [Alopecia Areata]

Pelade

Bare Lymphocyte Syndrome, Type Ii

Mhc Class Ii Deficiency

Bare Lymphocyte Syndrome

Major Histocompatibility Complex Class Ii Deficiency

Bare Lymphocyte Syndrome 2

Bare Lymphocyte Syndrome Type 2

Severe Combined Immunodeficiency, Hla Class Ii-Negative

Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

Bare Lymphocyte Syndrome, Type Ii, Complementation Group D

Bare Lymphocyte Syndrome Type Ii

Scid, Hla Class Ii-Negative

Bare Lymphocyte Syndrome, Type Ii, Complementation Group A

Bare Lymphocyte Syndrome, Type Ii, Complementation Group B

Scid Due To Absent Class Ii Hla Antigens

Hla Class 1 Deficiency

Scid, Hla Class 2-Negative

Bls Type Ii

Bare Lymphocyte Syndrome Type 2, Complementation Group A

Bare Lymphocyte Syndrome Type 2, Complementation Group E

Severe Combined Immunodeficiency

Bls, Type Ii

Bls

Bare Lymphocyte Syndrome, Type Ii, Complementation Group E

Blsii

Bls Type 1

Bls 2

Scid Due To Absence Of Class Ii Hla Antigens

Severe Combined Immunodeficiency Due To Absent Class Ii Human Leukocyte Antigens

Immunodeficiency By Defective Expression Of Mhc Class Ii

BLS2

Bare Lymphocyte Syndrome Type Ii Complementation Group A

Bare Lymphocyte Syndrome Type Ii Complementation Group B

Bare Lymphocyte Syndrome Type Ii Complementation Group C

Bare Lymphocyte Syndrome Type Ii Complementation Group D

Bare Lymphocyte Syndrome Type Ii Complementation Group E

Bls Ii

Hereditary Mhc Class Ii Deficiency

Hla Class Ii Deficient Combined Immunodeficiency

Mhc-Ii Deficiency

Scid Hla Class Ii-Negative

Severe Combined Immunodeficiency Hla Class Ii-Negative

Bl-2

Immunodeficiency By Defective Expression Of Hla Class 2

Hla Class 2-Negative Severe Combined Immunodeficiency

Diabetes Mellitus

Diabetes

Juvenile Dermatitis Herpetiformis
Chagas Disease

American Trypanosomiasis

Chagas' Disease

Chagas' Disease With Digestive System Involvement

Chagas' Disease With Nervous System Involvement

Chagas' Disease With Other Organ Involvement

Infection Due To Trypanosoma Cruzi

South American Trypanosomiasis

Chronic Chagas Disease With Digestive System Involvement

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

Autoimmune Hepatitis

Aih

Hepatitis, Autoimmune

Autoimmune Chronic Active Hepatitis

Autoimmune Hepatitis With Centrilobular Necrosis

Autoimmune Chronic Hepatitis

Hepatitis Autoimmune

Behcet Syndrome

Behcet Disease

Behcet'S Syndrome

Behcet'S Disease

Behçet Disease

Bd

Adamantiades-Behcet Disease

Triple Symptom Complex

Behçet'S Disease

Behet'S Syndrome

Bd Syndrome

Behçet Syndrome

Behçet'S Syndrome

Behcet Triple Symptom Complex

Malignant Aphthosis

Old Silk Route Disease

Adamantiades-Behçet Disease

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

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

Cervical Cancer

Cervical Cancer, Somatic

Neoplasm Of Uterine Cervix

Cervix Cancer

Uterine Cervical Neoplasm

Cervical Neoplasm

Cervix Uteri Cancer

Tumor Of The Cervix Uteri

CERCA

Uterine Cervical Cancer

Neoplasms Cervical

Uterine Cervical Neoplasms

Cervical Cancers

Cancer, Cervical, Somatic

Malignant Tumor Of Cervix

Cervix Carcinoma

Immune Deficiency Disease

Immunodeficiency

Primary Immunodeficiency

Primary Immunodeficiency Disease

Immunologic Deficiency Syndromes

Hypoimmunity

Immune Deficiency Disorder

Immunodeficiency Syndrome

Immune Disorder

Primary Immune Deficiency Disorder

Immune System Diseases

Human Immunodeficiency Virus Infection

Hiv - [Human Immunodeficiency Virus Infection]

Hiv Positive Nos

Hiv Disease

Acquired Immune Deficiency Syndrome-Related Complex

Aids-Like Syndrome

Aids-Related Complex Nos

Arc - [Aids-Related Complex]

Immunodeficiency Due To Human Immunodeficiency Virus Infection

Unspecified Human Immunodeficiency Virus Disease

Hiv Disease Nos

Human Immunodeficiency Virus Positive Nos

Hiv Nos

Deficiency Of Complement Initial Pathway

Deficiency Of Complement Terminal Pathway

Cfdd - [Complement Factor D Deficiency]

Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

Nonfamilial Hypogammaglobulinaemia

Common Variable Immune Deficiency

Nonfamilial Agammaglobulinaemia

Common Variable Agammaglobulinaemia

Agammaglobulinaemia Nos

Agammaglobulinaemia Antibody Deficiency Syndrome

Hypogammaglobulinaemia Antibody Deficiency Syndrome

Acquired Agammaglobulinaemia Nos

Hypogammaglobulinaemia Nos

Hyper Igm

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Type 1 Diabetes Mellitus

Diabetes Mellitus, Insulin-Dependent

Diabetes Mellitus Type 1

IDDM

Type 1 Diabetes

Insulin-Dependent Diabetes Mellitus

T1D

Juvenile-Onset Diabetes

Jod

Diabetes Mellitus, Type 1

Diabetes Mellitus, Insulin-Dependent-1

Type I Diabetes Mellitus

Autoimmune Diabetes

Juvenile Diabetes

Juvenile-Onset Diabetes Mellitus

Diabetes, Insulin Dependent

Insulin-Dependent Diabetes Mellitus-1

Diabetes Mellitus Insulin-Dependent

Diabetes Autoimmune

Diabetes Mellitus, Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 1, Susceptibility To

Diabetes Type 1

Type I Diabetes

Diabetes, Autoimmune

T1dm - [Type 1 Diabetes Mellitus]

Iddm - [Insulin Dependent Diabetes Mellitus]

Type 1 Iddm

Juvenile Diabetes Mellitus Without Compications

Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications

Juvenile-Onset Diabetes Mellitus Without Compications

Ketosis-Prone Diabetes Mellitus Without Compications

Juvenile-Onset-Type Diabetes Mellitus Without Compications

Polyomavirus-Associated Nephropathy

Polyomavirus Associated Nephropathy

Pvan

Caplan'S Syndrome

Caplan Syndrome

Caplan'S Disease

Caplans Syndrome

Rheumatoid Pneumoconiosis

Posterior Uveitis

Uveitis, Posterior

Choroiditis

Uveitis Posterior

Viral Infectious Disease

Viral Disease

Arbovirus Infections

Virus Infection

Virus Diseases

Viral Infection

Viral Infections

Virus Infections

Psoriasis
Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Human Immunodeficiency Virus Infectious Disease

Hiv Infections

Melanoma, Uveal

Uveal Melanoma

Choroidal Melanoma

Melanoma Of Uvea

Iris Melanoma

Malignant Melanoma Of Choroid

Malignant Melanoma Of Iris

Iritis
Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

Colorectal Cancer, Hereditary Nonpolyposis, Type 8

HNPCC8

Hereditary Nonpolyposis Colorectal Cancer Type 8

Hereditary Non-Polyposis Colorectal Cancer 8

Cancer, Colorectal, Nonpolyposis, Hereditary, Type 8

Ceftazidime Allergy

Fortaz Allergy

Tazicef Allergy

Sarcoidosis 1

Sarcoidosis

Boeck Sarcoid

Besnier-Boeck-Schaumann Disease

SS1

Sarcoidosis, Susceptibility To, 1

Lymphogranulomatosis

Hodgkin Disease

Boeck'S Disease

Boeck'S Sarcoid

Schaumann'S Disease Or Syndrome

Hutchinson-Boeck Disease Or Syndrome

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Spondyloarthropathy

Spondylarthropathies

Spondarthropathy

Spondylarthrosis

Spondyloarthropathy, Susceptibility To

Spondylarthritis

Autosomal Dominant Intellectual Developmental Disorder 19

Autosomal Dominant Non-Syndromic Intellectual Disability 19

Autosomal Dominant Mental Retardation 19

Mrd19

Mycobacterium Tuberculosis 1

Tuberculosis

Tuberculoma

Tuberculosis, Susceptibility To

Mycobacterium Tuberculosis, Susceptibility To, 1

Mtbs1

TB

Pfeiffer Syndrome

Infectious Mononucleosis

Acs5

Craniofacial-Skeletal-Dermatologic Dysplasia

Acs V

Noack Syndrome

Gammaherpesviral Mononucleosis

Acrocephalosyndactyly Type 5

Pfeiffer Syndrome Type 3

Acrocephalosyndactyly, Type V

Glandular Fever

Pfeiffer Type Acrocephalosyndactyly

Pfeiffer Syndrome Type 2

Acrocephalosyndactylia Type V

Filatov'S Disease

Monocytic Angina

Mononucleosis

Pfeiffer'S Disease

Acsv

Acrocephalosyndactyly, Type 5

Craniofacial-Skeletal-Dermatologic Syndrome

Pfeiffer Syndrome Type 1

Classic Pfeiffer Syndrome

PS

Pfeiffer Syndrome Variant

Dysplasia, Craniofacial-Skeletal-Dermatologic

Pfeiffer

Kissing Disease

Infectious Adenitis

Pfeiffer Disease

Autoimmune Disease Of Endocrine System
Abacavir Allergy

Abc Allergy

Bare Lymphocyte Syndrome, Type I

Hla Class I Deficiency

Mhc Class I Deficiency

Bls, Type I

Bare Lymphocyte Syndrome Type I

Bare Lymphocyte Syndrome, Type I, Due To Tap2 Deficiency

Blsi

Mhc Class 1 Deficiency

Major Histocompatibility Complex Class 1 Deficiency

Bare Lymphocyte Syndrome 1

BLS1

Bls I

Bls Type I

Bl-1

Bare Lymphocyte Syndrome Type 1

Immunodeficiency By Defective Expression Of Hla - [Human Leukocyte Antigen] Class 1

Scid - [Severe Combined Immunodeficiency] Due To Absent Class 2 Hla Antigens

Bls - [Bare Lymphocyte Syndrome] Nos

Leprosy 3

Leprosy

Leprosy, Susceptibility To, 3

Hansen'S Disease

Leprosy, Susceptibility To

Hansen Disease

Infection Due To Mycobacterium Leprae

LPRS3

Leprosy, Type 3

Anaesthesia Leprosy

Anaesthetic Leprosy

Maculoanaesthetic Leprosy

Macular Leprosy

Leprosy Unspecified

Autosomal Dominant Intellectual Developmental Disorder 40

Autosomal Dominant Non-Syndromic Intellectual Disability 40

Autosomal Dominant Mental Retardation 40

Mrd40

Mental Retardation, Autosomal Dominant 40

Uveal Disease

Uveal Diseases

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

Gastric Cancer

Stomach Cancer

Gastric Carcinoma

Stomach Carcinoma

Gastric Cancer, Somatic

Gastric Neoplasm

Carcinoma Of Stomach

Stomach Neoplasms

Malignant Neoplasm Of Stomach

Gastric Cancer Risk After H. Pylori Infection

Cancer Of The Stomach

Adult Stomach Cancer

Adult Stomach Carcinoma

GASC

Gastric Cancer Intestinal

Gastric Cancers

Gastric Carcinomas

Cancer, Gastric

Stomach Neoplasm

Malignant Neoplasm Of Body Of Stomach

Malignant Tumor Of Lesser Curve Of Stomach

Gastrocarcinoma Of Unspecified Site

Leather Bottle Stomach

Carcinoma Of Fundus Of Stomach

Cancer Of Fundus Of Stomach

Primary Malignant Neoplasm Of Body Of Stomach

Cancer Of Body Of Stomach

Primary Malignant Neoplasm Of Pyloric Antrum

Pyloric Antrum Cancer

Malignant Tumour Of Stomach

Hematologic Cancer

Hematologic Neoplasm

Hematologic Neoplasms

Hematologic Malignancies

Blood Cancer

Hematologic Malignancy

Hematological Tumors

Hematopoietic And Lymphoid System Tumor

Hematopoietic Cancer

Hematopoietic Neoplasm

Hematopoietic Tumors

Malignant Hematopoietic Neoplasm

Liquid Tumor

Hematopoietic Neoplasms

Phenytoin Allergy

Dilantin Allergy

Wilms Tumor 1

Nephroblastoma

Wilms Tumor

WT1

Wilms' Tumor

Bilateral Wilms Tumor

Wilms Tumor, Type 1

Wilms Tumor, Somatic

Adult Nephroblastoma

Wt1 Disorder

Renal Embryonic Tumor

Adult Kidney Wilms Tumor

Childhood Kidney Wilms Tumor

Nonanaplastic Kidney Wilms Tumor

Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma

RCC

Nonpapillary Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma

Hypernephroma

Adenocarcinoma Of Kidney

Renal Carcinoma, Chromophobe, Somatic

Clear Cell Carcinoma Of Kidney

Clear-Cell Metastatic Renal Cell Carcinoma

Clear Cell Renal Carcinoma

Renal Cell Carcinoma, Somatic

Conventional Renal Cell Carcinoma

Conventional Renal Cell Carcinoma

Renal Clear Cell Carcinoma

Ccrcc

Hereditary Clear Cell Renal Cell Carcinoma

Carcinoma, Renal Cell

Renal Cell Carcinoma, Clear Cell, Somatic

Renal Cell Carcinoma, Clear Cell

Clear Cell Kidney Carcinoma

Clear Cell Rcc

Cystic-Multilocular Variant

Clear Cell Renal Cell Adenocarcinoma

Hereditary Clear Cell Renal Cell Adenocarcinoma

Common Renal Cell Carcinoma

Crcc

Renal Cell Carcinoma Non-Papillary

Carcinoma Renal Cell

Renal Cell Cancer

Carcinoma, Renal Cell, Nonpapillary

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

Lymphoma, Non-Hodgkin, Familial

Non-Hodgkin Lymphoma

Lymphoma, Non-Hodgkin

NHL

Lymphoma, Non-Hodgkin, Somatic

Lymphoma, Follicular, Somatic

Familial Non-Hodgkin Lymphoma

Lymphoma Non-Hodgkins

Follicular Lymphoma, Somatic

Lymphosarcoma

Non-Hodgkins Lymphoma

Aplastic Anemia

Aplastic Anemia, Susceptibility To

Anemia Aplastic

Idiopathic Aplastic Anemia

Secondary Aplastic Anemia

Idiopathic Bone Marrow Failure

Aplastic Anemia Idiopathic

AA

Anemia, Aplastic

Aplastic Anemia, Idiopathic

Erythroid Aplasia

Aa - [Aplastic Anaemia]

Haematopoietic Aplasia

Aleukia Haemorrhagica

Anaemia Due To Decreased Red Cell Production

Aplasia Bone Marrow

Aplastic Bone Marrow

Hypoplastic Anaemia Nos

Myeloid Bone Marrow Aplasia

Pancytopenia

Panhaematopenia

Hypoproliferative Anaemia

Medullary Hypoplasia

Red Blood Cells Hypoplastic Anaemia

Panmyelophthisis

Panhemocytopenia

Refractive Hypoproliferative Anaemia

Toxic Anaemia

Toxic Aplastic Anaemia

Aplastic Anaemia Due To Toxic Cause

Idiopathic Aplastic Anaemia Nos

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

Skin Disease

Skin Diseases

Genodermatosis

Abnormality Of The Skin

Skin Diseases, Genetic

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders

Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia

AML

Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

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
Mus musculus HLA-A NCBI