ELANE - elastase, neutrophil expressed Gene

Also Known as GE; NE; HLE; HNE; ELA2; SCN1; PMN-E

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1991

About 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).

Summary

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 Products (1)

mRNA Protein Name
NM_001972.4 NP_001963.1 neutrophil elastase preproprotein
Molecular Function GO Annotation Evidence References Source
enables cytokine binding IPI
IPI: Inferred from physical interaction
12393522 GOA
enables endopeptidase activity IDA
IDA: Inferred from direct assay
6980881 GOA
enables heparin binding IDA
IDA: Inferred from direct assay
11907569 GOA
enables peptidase activity IDA
IDA: Inferred from direct assay
11907569 GOA
enables protease binding IPI
IPI: Inferred from physical interaction
6980881 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12114510 GOA
enables serine-type endopeptidase activity EXP
EXP: Inferred from Experiment
29539421 GOA
enables serine-type endopeptidase activity IDA
IDA: Inferred from direct assay
36899106 GOA
enables transcription corepressor activity IMP
IMP: Inferred from mutant phenotype
19506020 GOA
Biological Process GO Annotation Evidence References Source
involved in biosynthetic process of antibacterial peptides active against Gram-negative bacteria IDA
IDA: Inferred from direct assay
20421939 GOA
involved in defense response to bacterium IDA
IDA: Inferred from direct assay
14705961 GOA
involved in negative regulation of chemokine production IDA
IDA: Inferred from direct assay
12223522 GOA
involved in negative regulation of interleukin-8 production IDA
IDA: Inferred from direct assay
12223522 GOA
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
19506020 GOA
involved in neutrophil-mediated killing of gram-negative bacterium IDA
IDA: Inferred from direct assay
20421939 GOA
involved in positive regulation of interleukin-8 production IDA
IDA: Inferred from direct assay
14730209 GOA
involved in positive regulation of smooth muscle cell proliferation IDA
IDA: Inferred from direct assay
15010259 GOA
acts upstream of or within proteolysis IDA
IDA: Inferred from direct assay
11907569 GOA
involved in proteolysis IDA
IDA: Inferred from direct assay
20421939 GOA
involved in response to UV IDA
IDA: Inferred from direct assay
11928814 GOA
Cellular Component GO Annotation Evidence References Source
located in cell surface IDA
IDA: Inferred from direct assay
12114510 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
19506020 GOA
located in extracellular space IDA
IDA: Inferred from direct assay
20421939 GOA
located in secretory granule IDA
IDA: Inferred from direct assay
11907569 GOA
part of transcription repressor complex IDA
IDA: Inferred from direct assay
19506020 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ELANE Protein Structure

Trypsin

Trypsin: Trypsin (30 - 242)

  • 0
  • 100
  • 200
  • 267 a.a.
Protein Preferred Names Protein Names

neutrophil elastase

  • PMN elastase

ELANE Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Cross
ELANE P08246 S SARS-CoV-2 P0DTC2 33748632
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ELANE Proteins

Cat. No. Product Name Accession Purity
HY-P72179 ELANE Protein, Human (GST) P08246 (I30-H267) ≥ 90%, as determined by reducing SDS-PAGE.

ELANE Antibodies

Cat. No. Product Name Application Reactivity
HY-P81215 Neutrophil Elastase Antibody (YA3528) WB, IHC-P, ICC/IF, FC Human, Mouse
HY-P84004 Neutrophil Elastase Antibody (YA3701) WB, IHC-P, FC, ELISA Human, Monkey
HY-P84004A Neutrophil Elastase Antibody (YA3701)(PBS only) WB, IHC-P, FC, ELISA Human, Monkey
HY-P86073 Neutrophil Elastase Antibody (YA5765) WB, ICC/IF, IP, ELISA Human

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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