1. Gene
  2. ELANE - elastase, neutrophil expressed Gene

ELANE - elastase, neutrophil expressed Gene

中文名称:弹性蛋白酶,中性粒细胞表达

种属: Homo sapiens

同用名: GE; NE; HLE; HNE; ELA2; SCN1; PMN-E

基因 ID: 1991 | 基因类型: protein coding

关于 ELANE

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:852,303-856,243 (from NCBI)

This gene has 2 transcripts (splice variants), 1 gene allele, 92 orthologues, 6 paralogues and is associated with 4 phenotypes. Restricted expression toward bone marrow (RPKM 675.1).

功能概要

弹性蛋白酶形成丝氨酸蛋白酶的一个亚家族,除了弹性蛋白之外,它还能水解许多蛋白质。人类有六个弹性蛋白酶基因,它们编码结构相似的蛋白质。编码的前原蛋白经过蛋白水解处理以产生活性蛋白酶。激活后,这种蛋白酶水解特化嗜中性粒细胞溶酶体内的蛋白质,称为天青粒细胞,以及细胞外基质的蛋白质。该酶可能通过胶原蛋白 IV 和弹性蛋白的蛋白水解在退行性和炎症性疾病中发挥作用。这种蛋白质还可以降解大肠杆菌的外膜蛋白 A (OmpA) 以及志贺氏菌、沙门氏菌和耶尔森氏菌等细菌的毒力因子。该基因的突变与周期性中性粒细胞减少症和严重的先天性中性粒细胞减少症 (SCN) 相关。该基因存在于 19 号染色体上的一个基因簇中。[RefSeq 提供,2016 年 1 月]

Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six Elastase genes which encode structurally similar proteins. The encoded preproprotein is proteolytically processed to generate the active Protease. Following activation, this Protease hydrolyzes proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix. The Enzyme may play a role in degenerative and inflammatory diseases through proteolysis of collagen-IV and elastin. This protein also degrades the outer membrane protein A (OmpA) of E. coli as well as the virulence factors of such bacteria as Shigella, Salmonella and Yersinia. Mutations in this gene are associated with cyclic neutropenia and severe congenital neutropenia (SCN). This gene is present in a gene cluster on chromosome 19. [provided by RefSeq, Jan 2016]

ELANE 基因产物(1)

mRNA Protein Name
NM_001972.4 NP_001963.1 neutrophil elastase preproprotein
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 cytokine binding IPI
IPI: 通过物理相互作用推断
12393522 GOA
enables endopeptidase activity IDA
IDA: 通过直接分析推断
6980881 GOA
enables heparin binding IDA
IDA: 通过直接分析推断
11907569 GOA
enables peptidase activity IDA
IDA: 通过直接分析推断
11907569 GOA
enables protease binding IPI
IPI: 通过物理相互作用推断
6980881 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12114510 GOA
enables serine-type endopeptidase activity EXP
EXP: 通过实验结果推断
29539421 GOA
enables serine-type endopeptidase activity IDA
IDA: 通过直接分析推断
36899106 GOA
enables transcription corepressor activity IMP
IMP: 通过突变表型推断
19506020 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell surface IDA
IDA: 通过直接分析推断
12114510 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
19506020 GOA
located in extracellular space IDA
IDA: 通过直接分析推断
20421939 GOA
located in secretory granule IDA
IDA: 通过直接分析推断
11907569 GOA
part of transcription repressor complex IDA
IDA: 通过直接分析推断
19506020 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

ELANE 蛋白结构

Trypsin

Trypsin: Trypsin (30 - 242)

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

neutrophil elastase

PMN elastase

重组 ELANE 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72179 ELANE Protein, Human (GST) P08246 (I30-H267) ≥95%

关联疾病

疾病名称 别名
Cyclic Neutropenia

Cyclic Hematopoiesis

Cyclical Neutropenia

Neutropenia Cyclic

Cyclic Hematopoesis

Neutropenia, Cyclic

Cyclic Agranulocytosis

Neutropenia, Periodic

Cyclic Leucopenia

Periodic Neutropenia

Cyclic Haematopoiesis

CH

Hematopoiesis, Cyclic

Neutropenia, Cyclical

Neutropenia, Severe Congenital, 1, Autosomal Dominant

SCN1

Neutropenia, Severe Congenital 1, Autosomal Dominant

Neutropenia, Severe Congenital, Autosomal Dominant 1

Neutropenia

Leukopenia

Severe Congenital Neutropenia

Congenital Neutropenia

Neutropenia, Severe Congenital

Congenital Agranulocytosis

Infantile Genetic Agranulocytosis

Kostmann Disease

Kostmann'S Agranulocytosis

Kostmann'S Syndrome

Severe Infantile Genetic Neutropenia

Neutropenia, Severe Congenital, X-Linked

X-Linked Severe Congenital Neutropenia

XLN

SCNX

Severe Congenital Neutropenia X-Linked

Neutropenia, Congenital, Severe, X-Linked

Autosomal Dominant Severe Congenital Neutropenia

Severe Congenital Neutropenia Autosomal Dominant

Neutropenia, Congenital, Severe, Autosomal Dominant

Autoinflammatory Syndrome
Adult Respiratory Distress Syndrome

Acute Respiratory Distress Syndrome

Ards

Non-Cardiogenic Pulmonary Edema

Acute Lung Injury

Respiratory Distress Syndrome, Adult

Shock Lung

Acute Respiratory Distress

Respiratory Distress Syndrome

Adult Rds

Ali

Increased-Permeability Pulmonary Edema

Stiff Lung

Respiratory Distress Syndrome Adult

Bronchitis

Chronic Bronchitis

Acute Bronchitis

Bronchitis, Chronic

Acute Bronchitis And Bronchiolitis

Chest Cold

Chest Infection

Ci - Chest Infection

Recurrent Wheezy Bronchitis

Bronchitis Chronic

Lower Respiratory Tract Infection

Acute Lower Respiratory Tract Infection

Chronic Bronchitis Nos

Senile Bronchitis

Bronchitis Nos In Those Under L5 Years Of Age

Bronchitis Nos

Pulmonary Emphysema
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

Gingivitis

Chronic Gingivitis

Acute Gingivitis

Otitis Externa

Swimmer'S Ear

Infective Otitis Externa

Acute Infective Otitis Externa

Bronchiectasis

Polynesian Bronchiectasis

Kartagener Syndrome

Bronchiectasis Nos

Bronchial Disease

Bronchial Diseases

Bronchial Disorders

Bronchial Spasm

Lung Disease

Lung Diseases

Disorder Of Lung

Abnormality Of The Lung

Pasteurellosis

Pasteurella Infection

Pasteurella Infections

Pasteurella Infectious Disease

Shipping Fever

Transport Fever

Netherton Syndrome

NETH

Ns

Netherton Disease

Comel-Netherton Syndrome

Erythroderma, Ichthyosiform, With Hypotrichosis And Hyper-Ige

Bamboo Hair Syndrome

Ichthyosis Linearis Circumflexa

Ichthyosiform Erythroderma With Hypotrichosis And Hyper-Ige

Ilc

Nts

N Syndrome

Vasculitis

Angiitis

Autoimmune Vasculitis

Systemic Vasculitis

Vasculitis, Autoimmune

Elephantiasis
Disseminated Intravascular Coagulation

Defibrination Syndrome

Dic

Diffuse Or Disseminated Intravascular Coagulation

Fibrinolytic Purpura

Consumption Coagulopathy

Diffuse Intravascular Coagulation

Dic - [Disseminated Intravascular Coagulation]

Disseminated Intravascular Coagulopathy

Fibrinolysis Nos

Thrombolytic Purpura

Erysipelas
Aspergillosis

Aspergillosis, Susceptibility To

Infection Due To Aspergillus

Aspergilloma

Aspergillus Nodule

Simple Aspergilloma

Aspergillus

Aspergillus Flavus Infection

Aspergillus Fumigatus Infection

Aspergillus Infection

Infection By Aspergillus Fumigatus

Intracavitary Aspergillus Fungus Ball

Aspergillus Terreus

Farmer'S Lung

Farmer Lung

Farmers Lung

Farmer'S Lung Disease

Farmers' Lung

Farmers' Lung Disease

Mouldy Hay Disease

Moldy Hay Disorder

Fibrosis Of Lung With Farmers' Lung

Harvesters' Hypersensitivity Pneumonitis

Moldy Hay Pneumoconiosis

Haymakers' Hypersensitivity Pneumonitis

Threshers' Lung

Harvester Lung

Haymaker Lung

Pustular Psoriasis
Bronchopneumonia

Lobular Pneumonia

Bronchial Pneumonia

Chest Infection - Bronchopneumonia

Acute Pancreatitis

Pancreatitis

Pancreatitis, Acute Necrotizing

Pancreatitis Nos

Acute Pancreas Inflammation

Pneumonia

Acute Pneumonia

Pneumonias

Infectious Pneumonia

Pn - [Pneumonia]

Lobar Pneumonia Nos

Multifocal Pneumonia

Orthostatic Pneumonia

Pneumonia Nos

Chronic Pneumonia Nos

Atypical Pneumonia

Passive Pneumonia

Purulent Pneumonia

Interstitial Lobar Pneumonia

Pneumonia, Unspecified

Pneumonia Due To Chlamydia

Pneumonia Due To Chlamydia Pneumoniae

Pneumonia Due To E. Coli

Escherichia Coli Lobar Pneumonia

Pneumonia Due To H. Influenzae

Pneumonia Due To Hemophilus Influenzae

Bronchopneumonia Due To H. Influenzae

Haemophilus Influenzae Lobar Pneumonia

Bronchopneumonia Due To Hemophilus Influenzae

Pseudomonal Pneumonia

Pseudomonas Pneumonia

Pseudomonas Lobar Pneumonia

Staphylococcal Pneumonia

Staphylococcus Pneumonia

Acute Staphylococcal Pneumonia

Staphylococcal Double Pneumonia

Staphylococcal Lobar Pneumonia

Staphylococcal Purulent Pneumonia

Staphylococcal Bronchopneumonia

Pneumococcal Pneumonia

Pneumococcus Pneumonia

Bronchopneumonia Due To S. Pneumoniae

Pneumococcal Lobar Pneumonia

Streptococcal Pneumoniae Pneumonia

Streptococcus Pneumoniae Lobar Pneumonia

Pyemic Pneumococcal Embolism With Pneumonia

Bronchopneumonia Due To Streptococcus Pneumoniae

Pneumonia Due To Streptococcus, Group B

Group B Streptococcal Pneumonia

Adenovirus Pneumonia

Adenoviral Pneumonia

Adenovirus Viral Pneumonia

Pneumonia Respiratory Syncytial Viral

Parainfluenza Viral Pneumonia

Parainfluenzal Pneumonia

Parainfluenza Virus Pneumonia

Human Metapneumovirus Pneumonia

Human Metapneumovirus Infection Resulting In Pneumonia

Pneumocystis Pneumonia

Plasma Cells Pneumonia

Rapidly Progressive Glomerulonephritis

Glomerulonephritis Rapidly Progressive

Idiopathic Crescentic Glomerulonephritis

Chorioamnionitis
Severe Congenital Neutropenia 1
Status Asthmaticus

Asthma With Status Asthmaticus

Severe Asthma Attack

Bronchopulmonary Dysplasia

Bpd

Impetigo
Plasma Protein Metabolism Disease
Pulmonary Disease, Chronic Obstructive

Chronic Obstructive Pulmonary Disease

COPD

Pulmonary Disease, Chronic Obstructive, Severe Early-Onset

Chronic Obstructive Lung Disease

Chronic Obstructive Airway Disease

Pulmonary Disease, Chronic Obstructive, Susceptibility To

Cold

Severe Early-Onset Chronic Obstructive Pulmonary Disease

Pulmonary Disease Chronic Obstructive

Pulmonary Disease, Obstructive, Chronic, Susceptibility To

Chronic Obstructive Pulmonary Disease Of Horses

Common Cold

Upper Respiratory Infections

Copd - [Chronic Obstructive Pulmonary Disease]

Coad - [Chronic Obstructive Airways Disease]

Cold - [Chronic Obstructive Lung Disease]

Chronic Airway Disease Nos

Chronic Airways Limitation, Unspecified

Chronic Obstructed Airway, Unspecified

Chronic Obstructive Airway Disease, Unspecified

Chronic Obstructive Airway, Unspecified

Obstructive Lung Disease Nos

Chronic Obstructive Lung Disease Nos

Chronic Obstructive Lung Nos

Obstructive Pulmonary Disease Nos

Exacerbation Copd Nos

Acute Exacerbation Copd

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

Kawasaki Disease

Mucocutaneous Lymph Node Syndrome

Acute Febrile Mucocutaneous Lymph Node Syndrome

Kawasaki Syndrome

Kd

Infantile Polyarteritis

Kawasaki Disease, Susceptibility To

Acute Febrile Mcls

Kawasaki'S Disease

Mlns

KWD

Pancreatitis

Mumps Pancreatitis

Cutis Laxa

Generalized Elastolysis

Loose Skin

Dermatolysis

Dermatomegaly

Cutis Laxa Syndrome

Granulomatosis With Polyangiitis

GPA

Wegener Granulomatosis

Wegener Granulomatosis, Formerly

Midline Granulomatosis

Wg, Formerly

Necrotizing Respiratory Granulomatosis

Wg

Wegeners Granulomatosis

Pauci-Immune Glomerulonephritis Associated With Granulomatosis With Polyangiitis

Neutropenia, Severe Congenital, 3, Autosomal Recessive

Kostmann Disease

SCN3

Neutropenia, Severe Congenital 3, Autosomal Recessive

Agranulocytosis Infantile

Agranulocytosis, Infantile

Severe Congenital Neutropenia Autosomal Recessive 3

Neutropenia, Severe Congenital, Autosomal Recessive 3

Kostmanns Syndrome

Neutropenia, Congenital, Severe, Type 3, Autosomal Recessive

Severe Congenital Neutropenia

Aortic Aneurysm, Familial Abdominal, 1

Abdominal Aortic Aneurysm

Aortic Aneurysm, Familial Abdominal 1

Aneurysm, Abdominal Aortic

AAA

Aortic Aneurysm, Abdominal

AAA1

Aortic Aneurysm, Familial Abdominal

Aortic Aneurysm Abdominal

Abdominal Aortic Aneurysms

Abdominal Aortic Aneurysm Without Mention Of Perforation Or Rupture

Abdomen Aneurysm

Abdominal Aorta Aneurysm

Aneurysm Of Abdominal Aorta

Aortic Abdomen Aneurysm

Aaa - [Abdominal Aortic Aneurysm]

Abdominal Aneurysm

Abdominal Aorta Aneurysm Rupture

Abdominal Aorta Aneurysm Ruptured

Abdominal Aortic Aneurysm Which Has Ruptured

Ruptured Aaa

Abdomen Aorta Aneurysm Ruptured

Abdomen Aorta Rupture

Abdomen Aortic Aneurysm Rupture

Abdomen Aneurysm Rupture

Abdomen Aortic Aneurysm Ruptured

Abdomen Aortic Rupture

Abdominal Aorta Rupture

Abdominal Aortic Rupture

Rupture Abdomen Aorta Aneurysm

Rupture Abdominal Aortic Aneurysm

Ruptured Abdomen Aneurysm

Ruptured Abdomen Aorta

Ruptured Abdomen Aortic

Ruptured Abdominal Aneurysm

Ruptured Abdominal Aorta

Ruptured Abdominal Aortic

Ruptured Aorta Abdominalis Aneurysm

False Abdomen Aorta Aneurysm Ruptured

False Abdominal Aortic Aneurysm Ruptured

False Abdominal Aorta Aneurysm Ruptured

False Abdomen Aortic Aneurysm Ruptured

Exocrine Pancreatic Insufficiency
Chronic Ulcer Of Skin

Chronic Wounds

Callous Ulcer

Indolent Ulcer

Chronic Ulcer

Severe Congenital Neutropenia 3

Kostmann Syndrome

Infantile Agranulocytosis

Kostmann Disease

Scn3

Severe Congenital Neutropenia Type 3

Arthus Reaction

Arthus Phenomenon

Arthus Type Urticaria

Bacterial Infectious Disease

Bacterial Infections

Bacterial Infection Nos

Disease Caused By Bacteria

Bacterial Disease Or Disorder

Glomerulonephritis

Bright'S Disease

Pulmonary Hypertension

Primary Pulmonary Hypertension

Hypertension Pulmonary

Hypertension, Pulmonary

Hypertension, Pulmonary, Primary

Idiopathic Pulmonary Hypertension

Idiopathic Pulmonary Arterial Hypertension

Pulmonary Htn - [Hypertension]

Ligneous Conjunctivitis

Conjunctivitis Lignosa

Conjunctivitis, Ligneous

Trigonitis

Bladder Trigonitis

Pseudomembranous Trigonitis

Pulmonary Fibrosis

Fibrosis Of Lung

Venous Insufficiency

Peripheral Venous Insufficiency

Onchocerciasis

Infection By Onchocerca Volvulus

River Blindness

Onchocerca Volvulus Infection

Volvulosis

Robles' Disease

Onchocerciasis, Ocular

Robles Disease

Onchocercosis

Blinding Filariasis

Robles

Onchocerca Infestation

Craw-Craw

Papillon-Lefevre Syndrome

Papillon-Lefevre Disease

Papillon-Lefèvre Syndrome

PLS

Keratosis Palmoplantaris With Periodontopathia

PALS

Papillon Lefevre Syndrome

Keratosis Palmoplantar-Periodontopathy Syndrome

Papillon-Lefvre Syndrome

Hyperkeratosis Palmoplantaris With Periodontosis

Keratoris Palmoplantaris With Periodontopathia

Keratosis Palmoplantar - Periodontopathy

Palmar-Plantar Hyperkeratosis And Concomitant Periodontal Destruction

Palmoplantar Keratoderma With Periodontosis

Palsy

Periodontitis

Chronic Pericementitis

Chronic Periodontitis

Capillary Leak Syndrome

Systemic Capillary Leak Syndrome

Clarkson Disease

Capillary Leak Syndrome With Monoclonal Gammopathy

Scls

Periodic Systemic Capillary Leak Syndrome

Capillary Hyperpermeability Syndrome

Idiopathic Capillary Leak Syndrome

Peritonitis

Retractile Mesenteritis

Sclerosing Mesenteritis

Acute Generalized Peritonitis

Primary Bacterial Peritonitis

Idiopathic Sclerosing Mesenteritis

Mesenteric Panniculitis

Peritoneal Retractile Mesenteritis

Liposclerotic Mesenteritis

Mesenteric Fibromatosis

Mesenteric Lipodystrophy

Mesenteric Lipogranuloma

Fibromatosis, Abdominal

Peritoneum Inflammation

Peritonitis Of Undetermined Cause

Peritonitis Of Unspecified Cause

Pelviperitonitis

Pelvic Peritonitis, Nos

Generalised Peritonitis Nos

Abdominal Peritonitis

Acute Idiopathic Peritonitis

Acute Lesser Sac Peritonitis

Acute Peritoneal Inflammation

Diffuse Peritonitis

Peritoneal Inflammation

Acute Primary Peritonitis

Pneumococcal Peritonitis

Aggressive Periodontitis

Juvenile Periodontitis

Periodontitis, Juvenile

Prepubertal Periodontitis

Respiratory Failure

Acute Respiratory Failure

Chronic Respiratory Failure

Respiratory Insufficiency

Acute-On-Chronic Respiratory Failure

Respiratory Disease

Acute And Chronic Respiratory Failure

Respiratory Insufficiency/Failure

Chronic Respiratory Disease

Pulmonary Valve Insufficiency

Chronic Disease Of Respiratory System

Respiration Disorders

Respiratory Tract Diseases

Lung Failure Nos

Pulmonary Failure

Arf - [Acute Respiratory Failure]

Acute Respiratory Insufficiency

Acute Pulmonary Insufficiency

Acute Respiration Failure

Chronic Respiration Failure

Otitis Media

Opsoclonus-Myoclonus Syndrome

OMS

Otitis Media, Susceptibility To

Kinsbourne Syndrome

Otitis Media, Chronic/Recurrent

Come/Rom

Ataxo-Opso-Myoclonus Syndrome

Dancing Eye Syndrome

Dancing Eye-Dancing Feet Syndrome

Oma Syndrome

Opsoclonus Myoclonus Syndrome

Opsoclonus-Myoclonus-Ataxia Syndrome

Poma Syndrome

Paraneoplastic Opsoclonus-Myoclonus

Paraneoplastic Opsoclonus-Myoclonus-Ataxia Syndrome

Opsoclonus Myoclonus

OM

{Otitis Media, Susceptibility To}

Infectious Otitis Media

Extrinsic Allergic Alveolitis

Hypersensitivity Pneumonitis

Alveolitis, Extrinsic Allergic

Alveolitis

Allergic Interstitial Pneumonitis

Allergic Pneumonitis

Extrinsic Allergic Pneumonia Hypersensitivity Pneumonitis

Hp

Pneumonitis Hypersensitivity

Allergic Alveolitis

Extrinsic Allergic Alveolitis Nos

Airway Obstruction With Allergic Alveolitis

Unspecified Allergic Alveolitis And Pneumonitis

Extrinsic Allergic Bronchiolo-Alveolitis

Hypersensitivity Pneumonia

Hypersensitivity Pneumonitis Nos

Obstructive Lung Disease With Allergic Alveolitis

Obstructive Lung Disorder With Hypersensitivity Pneumonitis

Obstructive Lung Disorder With Allergic Alveolitis

Obstructive Lung Disease With Hypersensitivity Pneumonitis

Bullous Pemphigoid

Benign Pemphigus

Senile Dermatitis Herpetiformis

Old Age Pemphigus

Parapemphigus

Pemphigoid

Pemphigoid Bullous

Pemphigoid, Bullous

Pancreas Disease

Abnormality Of The Pancreas

Pancreatic Diseases

Alcoholic Hepatitis

Acute Alcoholic Hepatitis

Acute Alcoholic Liver Disease

Hepatitis, Alcoholic

Hepatitis Alcoholic

Ah - [Alcoholic Hepatitis]

Ethanol Hepatitis

Aortic Aneurysm

Aortic Rupture

Thoracoabdominal Aortic Aneurysm, Ruptured

Ruptured Aortic Aneurysm

Aortic Aneurysms

Aortic Aneurysm Without Mention Of Rupture Nos

Ruptured Abdominal Aortic Aneurysm

Aortic Aneurysm, Ruptured

Ruptured Thoracic Aortic Aneurysm

Immunodeficiency 45

IMD45

Autoimmune Vasculitis
Acute Promyelocytic Leukemia

Leukemia, Acute Promyelocytic

Acute Myeloblastic Leukemia Type 3

Aml M3

APL

Leukemia, Acute Promyelocytic, Somatic

Aml With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Apml

Acute Myeloblastic Leukemia 3

Acute Myeloid Leukemia With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Acute Myeloblastic Leukaemia Type 3

Acute Myeloid Leukaemia M3

Acute Myeloid Leukemia M3

Acute Promyelocytic Leukaemia

M3 Anll

Myeloid Leukemia, Acute, M3

Leukemia Promyelocytic Acute

Leukemia, Promyelocytic, Acute

Leukemia, Acute, Promyelocytic

Cerebral Aneurysms

Cerebral Aneurysm

Cerebral Arterial Aneurysm

Acute Hemorrhagic Pancreatitis

Pancreatitis, Acute Hemorrhagic

Vascular Disease

Vascular Diseases

Aneurysm

Spinal Cord Ischemia

Vascular Anomaly

Spinal Cord Vascular Diseases

Vascular Tissue Disease

Interstitial Lung Disease 2

Idiopathic Pulmonary Fibrosis

Ipf

Fibrocystic Pulmonary Dysplasia

Pulmonary Fibrosis, Idiopathic

Pulmonary Fibrosis, Idiopathic, Susceptibility To

Cryptogenic Fibrosing Alveolitis

ILD2

Idiopathic Pulmonary Fibrosis, Familial

Fibrosing Alveolitis, Cryptogenic

Uip

Fibrosing Alveolitis

Interstitial Pneumonitis, Usual

Familial Idiopathic Pulmonary Fibrosis

Idiopathic Fibrosing Alveolitis, Chronic Form

Usual Interstitial Pneumonia

Fibrosing Alveolitis Cryptogenic

Hamman-Rich Disease

Idiopathic Pulmonary Fibrosis Familial

Interstitial Pneumonitis Usual

Fibrosis Idiopathic Pulmonary

Fibrosis, Pulmonary, Idiopathic

Hamman-Rich Syndrome

Chronic Idiopathic Pulmonary Fibrosis

Acute Interstitial Pneumonia

Interstitial Pulmonary Fibrosis

Ipf - [Idiopathic Pulmonary Fibrosis]

Idiopathic Lung Fibrosis

Fibrosing Lung Disease

Pulmonary Fibrosis Nos

Fibrosing Pneumonitis

Proteasome-Associated Autoinflammatory Syndrome 1

Jmp Syndrome

Nakajo-Nishimura Syndrome

Nkjo

Autoinflammation, Lipodystrophy, And Dermatosis Syndrome

Proteasome-Associated Autoinflammatory Syndrome 1 And Digenic Forms

Nakajo Syndrome

PRAAS1

Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy And Elevated Temperature Syndrome

Candle

Joint Contractures, Muscular Atrophy, Microcytic Anemia, And Panniculitis-Induced Lipodystrophy

Aldd

Inflammation

Joint Contractures - Muscle Atrophy - Microcytic Anemia - Panniculitis-Induced Lipodystrophy

Nakajo Nishimura Syndrome

Amyotrophy Fat Tissue Anomaly

Japanese Autoinflammatory Syndrome With Lipodystrophy

Jasl

Joint Contractures Muscular Atrophy Microcytic Anemia And Panniculitis-Induced Lipodystrophy

Nns

Nodular Erythema With Digital Changes

Secondary Hypertrophic Osteoperiostosis With Pernio

Gastroesophageal Reflux

Gastroesophageal Reflux Disease

Gerd

GER

Gastroesophageal Reflux, Pediatric

Acid Reflux

Gastresophageal Reflux

Gastro-Esophageal Reflux

Gerd - Gastro-Esophageal Reflux Disease

Psoriasis
Corticosteroid-Binding Globulin Deficiency

CBG DEFICIENCY

Transcortin Deficiency

Asthma

Chronic Obstructive Asthma

Asthma, Diminished Response To Antileukotriene Treatment In

Bronchial Hyperreactivity

Asthma, Susceptibility To

Asthma, Bronchial

Asthma, Protection Against

Asthma, Nocturnal, Susceptibility To

Nocturnal Asthma

Asthma-Related Traits

Asthma-Related Traits, Susceptibility To

Asthma, Nocturnal

Chronic Obstructive Asthma With Acute Exacerbation

Chronic Obstructive Asthma With Status Asthmaticus

Exercise Induced Asthma

Exercise-Induced Asthma

Bronchial Asthma

Asthma, Exercise-Induced

Idiosyncratic Asthma

Unspecified Asthma With Acute Exacerbation

Asthma, Unspecified, With Stated Status Asthmaticus

Status Asthmaticus Nos

Acute Severe Asthma

Acute Severe Bronchial Asthma

Status Asthma

Status Post Asthmaticus

Ehlers-Danlos Syndrome

Eds

Cutis Hyperelastica

Elastic Skin

Ehlers-Danlos Syndromes

Ed Syndrome

Ehlers Danlos Syndrome

Ehlers Danlos Disease

Eds - [Ehlers-Danlos Syndrome]

Rheumatoid Arthritis

RA

Arthritis, Rheumatoid

Rheumatoid Arthritis, Susceptibility To

Arthritis Or Polyarthritis, Rheumatic

Atrophic Arthritis

Rheumatism Arthritis

Rheumatoid Polyarthritis

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Chronic Endophthalmitis
Whim Syndrome 1

Whim Syndrome

Whims

Warts, Hypogammaglobulinemia, Infections, And Myelokathexis

WHIMS1

Warts-Hypogammaglobulinemia-Infections-Myelokathexis Syndrome

Warts, Hypogammaglobulinemia, Infections, And Myelokathexis Syndrome 1

Myelokathexis, Isolated

Wilm

Warts-Infections-Leukopenia-Myelokatexis Syndrome

Warts, Hypogammaglobulinemia, Infections And Myelokathexis Syndrome 1

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

Gingival Disease

Gingival Diseases

Gum Disease

Gingival Disorder

Gingivitis And Periodontal Diseases

Cholangitis, Primary Sclerosing

Primary Sclerosing Cholangitis

PSC

Sclerosing Cholangitis

Cholangitis, Sclerosing

Cholangitis Primary Sclerosing

Psc - [Primary Sclerosing Cholangitis]

Esophageal Cancer

Esophageal Carcinoma

Carcinoma Of Esophagus

Esophageal Squamous Cell Carcinoma, Somatic

Esophageal Carcinoma, Somatic

Esophagus Cancer

Gastric Cardia Adenocarcinoma

Esophageal Neoplasms

Esophageal Cancer, Somatic

Cancer Of Esophagus

Cancer Of Oesophagus

Carcinoma Of Oesophagus

Ca Lower Third Oesophagus

Ca Middle Third Oesophagus

Malignant Neoplasm Of Distal Third Of Esophagus

Malignant Neoplasm Of Lower Third Of Oesophagus

Malignant Neoplasm Of Middle Third Of Oesophagus

Malignant Neoplasm Of Proximal Third Of Esophagus

Malignant Neoplasm Of Upper Third Esophagus

Malignant Tumor Of Abdominal Esophagus

Malignant Tumor Of Distal Third Of Esophagus

Malignant Tumor Of Proximal Third Of Esophagus

Malignant Tumor Of The Middle Third Of The Esophagus

ESCR

Aerodigestive Tract Cancer

Escc

Esophageal Squamous Cell Carcinoma

Cancer, Esophageal

Malignant Neoplasm Of Esophagus

Squamous Cell Carcinoma Of Esophagus

Malignant Neoplasm Of Middle Third Of Esophagus

Periodontitis, Aggressive, 1

Pustulosis Palmaris Et Plantaris

Ppp

Periodontitis, Juvenile

Localized Pustular Psoriasis

Jpd

Periodontitis 1, Juvenile

Lpp

Palmoplantar Pustulosis

Prepubertal Periodontitis

Periodontitis, Aggressive 1

Periodontitis, Prepubertal

Periodontititis, Aggressive, 1

AP1

Juvenile Periodontitis

Periodontitis Juvenile

Pustulosis Of Palms And Soles

Generalized Pustular Psoriasis

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

Bacterial Pneumonia

Gram-Negative Pneumonia

Pneumonia Due To Other Gram-Negative Bacteria

Pneumonia Bacterial

Pneumonia, Bacterial

Acute Bacillus Pneumonia

Acute Bacterial Pneumonia

Bacillus Double Pneumonia

Bacillus Pneumonia

Bacteria Pneumonia

Bacterial Double Pneumonia

Bacterial Lobar Pneumonia

Bacterial Purulent Pneumonia

Bronchopneumonia Due To Bacteria Other Than S. Pneumoniae And H. Influenzae

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]

Corneal Dystrophy, Posterior Polymorphous, 4

PPCD4

Posterior Polymorphous Corneal Dystrophy 4

Melon Allergy

Cucumis Melo Fruit Allergy

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

Preterm Premature Rupture Of The Membranes

Preterm Premature Rupture Of Membranes

PPROM

Preterm Premature Rupture Of The Membranes, Susceptibility To

Pprom - [Preterm Premature Rupture Of Membranes]

Preterm Rupture Of Membranes

Shwachman-Diamond Syndrome 1

Shwachman-Diamond Syndrome

Shwachman Syndrome

Shwachman-Bodian-Diamond Syndrome

Sds

Pancreatic Insufficiency And Bone Marrow Dysfunction

Shwachman-Bodian Syndrome

SDS1

Lipomatosis Of Pancreas, Congenital

Congenital Lipomatosis Of Pancreas

Shwachman-Diamond Type Metaphyseal Dysplasia

Metaphyseal Chondrodysplasia, Shwachman Type

Shwachman-Diamond-Oski Syndrome

Leukemia, Chronic Myeloid

Chronic Myeloid Leukemia

Chronic Myelogenous Leukemia

CML

Chronic Granulocytic Leukemia

Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib

Chronic Myeloid Leukaemia

Chronic Granulocytic Leukaemia

Chronic Myelogenous Leukaemia

Myeloid Leukemia, Chronic

Leukemia, Chronic Myelogenous

Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic

Cml - Chronic Myelogenous Leukemia

Cgl

Chronic Myelocytic Leukemia

Leukemia, Chronic Myeloid, Atypical

ACML

Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative

Myeloid Leukemia Chronic

Leukemia, Myeloid, Chronic

Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative

Cml- [Chronic Myeloid Leukaemia]

Cgl - [Chronic Granulocytic Leukaemia]

Chronic Myelocytic Leukaemia

Diabetes Mellitus

Diabetes

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary

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 ELANE VGNC VGNC:108243
Rattus norvegicus ELANE RGD RGD:1307968
Macaca mulatta ELANE VGNC VGNC:72199
Felis catus ELANE VGNC VGNC:78446
Mus musculus ELANE MGD MGI:2679229
Bos taurus ELANE VGNC VGNC:28423
Others ELANE NCBI