1. Gene
  2. MB - myoglobin Gene

MB - myoglobin Gene

Homo sapiens

Also known as PVALB

Gene ID: 4151 | Gene type: protein coding

About MB

Cytogenetic location: 22q12.3 Genomic coordinates (GRCh38): 22:35,606,764-35,623,354 (from NCBI)

This gene has 10 transcripts (splice variants), 207 orthologues and 11 paralogues. Restricted expression toward heart (RPKM 2708.0).

Summary

This gene encodes a member of the globin superfamily and is predominantly expressed in skeletal and cardiac muscles. The encoded protein forms a monomeric globular haemoprotein that is primarily responsible for the storage and facilitated transfer of oxygen from the cell membrane to the mitochondria. This protein also plays a role in regulating physiological levels of nitric oxide. Multiple transcript variants encoding distinct isoforms exist for this gene. [provided by RefSeq, May 2020]

MB Products(9)

mRNA Protein Name
NM_001362846.2 NP_001349775.1 myoglobin isoform 1
NM_001382809.1 NP_001369738.1 myoglobin isoform 1
NM_001382810.1 NP_001369739.1 myoglobin isoform 1
NM_001382811.1 NP_001369740.1 myoglobin isoform 1
NM_001382812.1 NP_001369741.1 myoglobin isoform 2
NM_001382813.1 NP_001369742.1 myoglobin isoform 2
NM_005368.3 NP_005359.1 myoglobin isoform 1
NM_203377.1 NP_976311.1 myoglobin isoform 1
NM_203378.1 NP_976312.1 myoglobin isoform 1

MB Protein Structure

Globin

Globin: Globin (7 - 112)

  • 0
  • 100
  • 154 a.a.
Protein Preferred Names Protein Names

myoglobin

Recombinant MB Proteins

Cat. No. Product Name Accession Purity
HY-P70243 Myoglobin Protein, Human (His) P02144 (M1-G154) ≥95%

Related Diseases

Diseases Alias
Compartment Syndrome

Compartment Syndromes

Compartmental Syndrome

Acute Kidney Tubular Necrosis

Acute Tubular Necrosis

Acute Renal Failure With Tubular Necrosis

Acute Tubule Necrosis

Acute Renal Failure With Lesion Of Tubular Necrosis

Atn - Acute Tubular Necrosis

Tubular Necrosis Acute

Kidney Tubular Necrosis, Acute

Acute Renal Tubular Necrosis

Acute Tubular Nephrosis

Ischaemic Acute Tubular Necrosis

Ischaemic Tubular Necrosis

Kidney Tubular Necrosis

Lower Nephron Nephrosis

Necrotising Renal Oedema

Renal Tubular Necrosis

Toxic Tubular Necrosis

Tubular Kidney Necrosis

Tubular Necrosis Nos

Tubular Nephrosis

Myxosarcoma
Neuroleptic Malignant Syndrome
Alveolar Soft Part Sarcoma

ASPS

Alveolar Soft-Part Sarcoma

Sarcoma, Alveolar Soft Part

Alveolar Soft Tissue Sarcoma

Sarcoma Alveolar Soft Part

Adult Alveolar Soft-Part Sarcoma

Childhood Alveolar Soft-Part Sarcoma

Acute Kidney Failure

Acute Renal Failure

Acute Kidney Injury

Renal Failure Acute

Kidney Failure, Acute

Pre-Renal Acute Kidney Injury

Nontraumatic Acute Kidney Injury

Aki - [Acute Kidney Injury]

Arf - [Acute Kidney Failure]

Acute Kidney Disease

Acute Kidney Impairment

Acute Ischaemic Renal Failure

Acute Hypoxic Kidney Failure

Acute Kidney Shutdown

Acute Renal Oedema

Acute Renal Impairment

Acute Kidney Collapse

Acute Necrotising Kidney

Acute Renal Suppression

Acute Myocardial Infarction

Cardiac Attack

Heart Attack

Medullomyoblastoma
Myoglobinuria
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration

Metabolic Encephalomyopathic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration

MECRCN

Rhabdomyolysis

Leiomyosarcoma

Leiomyosarcomas

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

Orbit Embryonal Rhabdomyosarcoma

Embryonal Rhabdomyosarcoma Of The Orbit

Anuria

Suppression Of Urinary Secretion

Granular Cell Leiomyosarcoma
Angina Pectoris

Prinzmetal'S Variant Angina

Angina

Prinzmetal Angina

Variant Angina

Angina Inversa

Prinzmetal'S Angina

Coronary Artery Vasospasm

Angina Pectoris, Variant

Variant Angina Pectoris

Vasospastic Angina

Angor Pectoris

Anginal Syndrome

Ischaemic Chest Pain

Angina Pectoris Syndrome

Angina Syndrome

Cardiac Angina Syndrome

Ap - [Angina Pectoris]

Angina Nos

Ap - [Angina Pectoris] Syndrome

Ischaemic Heart Disease With Angina

Heart Angina

Chest Angina

Angina Attack

Anginal Cardiopathy

Coronary Pain Nos

Myositis

Idiopathic Inflammatory Myopathy

Idiopathic Inflammatory Myositis

Iim

Imm

Idiopathic Inflammatory Myopathies

Myopathy, Familial Idiopathic Inflammatory

Inflammatory Disorder Of Muscle

Idiopathic Inflammatory Myopathy, Familial

Inflammatory Myopathy, Idiopathic

Myopathies Idiopathic Inflammatory

Familial Idiopathic Inflammatory Myopathy

Ischemia

Acute Coronary Syndrome

Malignant Hyperthermia

Anesthesia Related Hyperthermia

Malignant Hyperpyrexia Due To Anesthesia

Hyperpyrexia, Malignant

Hyperthermia, Malignant

Malignant Hyperpyrexia

Mhs

Malignant Fever

Plantar Fascial Fibromatosis

Dupuytren'S Contracture Of Foot

Ledderhose'S Disease

Fibromatosis, Plantar

Ledderhose Disease

Rhabdomyosarcoma
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

Embryonal Rhabdomyosarcoma

Rhabdomyosarcoma, Embryonal

Rhabdomyosarcoma Embryonal

Botryoid Rhabdomyosarcoma

Erms

Spindle Cell Rhabdomyosarcomas

Adenosarcoma

Mullerian Adenosarcoma

Polymyositis

Pm - [Polymyositis]

Liposarcoma

Lipomatous Cancer

Rhabdomyosarcoma 2

Alveolar Rhabdomyosarcoma

Rhabdomyosarcoma, Alveolar

Rhabdomyosarcoma Alveolar

RMS2

Rmsa

Rhabdomyosarcoma 2, Alveolar

Alveolar Childhood Rhabdomyosarcoma

Arms

Rhabdomyosarcoma, Type 2

Plasmodium Falciparum Malaria

Falciparum Malaria

Malaria, Falciparum

Malaria Fever, Subtertian

Malignant Tertian Fever

Malaria Falciparum

Cerebral Malaria Nos

Cerebral Malaria

Lipoprotein Quantitative Trait Locus

Coronary Artery Disease

Coronary Artery Anomaly

Coronary Artery Disease, Susceptibility To

Myocardial Ischemia

Congenital Anomaly Of Coronary Artery

Coronary Arteriosclerosis

Coronary Disease

Coronary Heart Disease

Coronary Artery Disorder

LPAQTL

Lpa Deficiency, Congenital

Coronary Artery Abnormality

Coronary Artery Anomaly, Congenital

Chd

Coronary Syndrome

Congenital Malformations Of Coronary Vessels

Malformation Of Coronary Vessels

Congenital Coronary Artery Anomaly

Congenital Coronary Artery Deformity

Congenital Coronary Artery Disorder

Abnormal Coronary Artery

Congenital Coronary Artery Malposition

Congenital Coronary Disease

Congenital Anomaly Of Coronary Arteries

Myocarditis

Myocardial Inflammation

Inflammatory Cardiomyopathy

Gas Gangrene

Myonecrosis

Gas Bacillus Infection

Gas Gangrene Due To Clostridia

Clostridial Myonecrosis

Clostridial Cellulitis

Pyomyositis

Tropical Pyomyositis

Myositis Tropicans

Myositis Purulenta Tropica

Pm

Suppurative Myositis

Purulent Myositis

Hemoglobinuria
Breast Leiomyosarcoma

Leiomyosarcoma Of The Breast

Malignant Mesenchymoma

Malignant Mesenchymal Tumor

Mesenchymoma, Malignant

Sarcoma

Rat Malignant Renal Mesenchymal Tumor

Malignant Fibrous Histiocytoma

Undifferentiated Pleomorphic Sarcoma

Ups

Histiocytoma, Malignant Fibrous

Fibroxanthosarcoma

Mfh

Malignant Fibrohistiocytic Tumors

Histiocytoma, Fibrous, Malignant

Botryoid Rhabdomyosarcoma

Sarcoma Botryoides

Botryoid Sarcoma

Botryoid-Type Embryonal Rhabdomyosarcoma

Thymus Lipoma

Thymolipoma

Immune System Organ Benign Neoplasm
Anterior Compartment Syndrome
Blastoma

Embryoma

Orbit Rhabdomyosarcoma

Rhabdomyosarcoma Of The Orbit

Rhabdomyosarcoma Of Orbit

Carcinosarcoma

Mixed Tumor, Mullerian

Malignant Mixed Mesodermal Tumor

Malignant Mixed Mullerian Tumor

Mmmt

Mixed Tumor, Mesodermal

Mesodermal Mixed Tumor

Mixed Mesodermal Tumor

Mullerian Mixed Tumor

Mixed Mullerian Tumor

Malignant Mixed Müllerian Tumor

Mixed Müllerian Tumor

Mixed Tumor Mullerian

Mixed Tumor, Not Otherwise Specified

Pulmonary Embolism

Pulmonary Artery Embolism

Pulmonary Embolus

Pulmonary Emboli

Peroneal Nerve Paralysis

Peroneal Nerve Palsy

Malignant Triton Tumor

Malignant Peripheral Nerve Sheath Neoplasm With Rhabdomyosarcoma

Malignant Triton Tumour

Mpnst With Rhabdomyoblastic Differentiation

Mpnst With Rhabdomyosarcoma

Mpnst With Rhabdomyosarcomatous Differentiation

Mtt

Malignant Peripheral Nerve Sheath Tumor With Rhabdomyosarcomatous Differenciation

Malignant Peripheral Nerve Sheath Tumor With Rhabdomyoblastic Differentiation

Fallopian Tube Papillary Adenocarcinoma

Papillary Adenocarcinoma Of The Fallopian Tube

Skeletal Muscle Neoplasm

Tumor Of Skeletal Muscle

Sulfhemoglobinemia
Mediastinal Lipomatosis
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

Blackwater Fever

Black Water Fever

Hemoglobinuric, Malaria

Malarial Hemoglobinuria

Femoral Neuropathy

Femoral Nerve Dysfunction

Femoral Nerve Lesions

Interstitial Myocarditis
Myopathy

Muscular Diseases

Myopathies

Anteroseptal Myocardial Infarction
Sarcoma

Connective And Soft Tissue Neoplasm

Tumor Of Soft Tissue And Skeleton

Sarcomas

Sarcoma - Category

Breast Rhabdomyosarcoma

Rhabdomyosarcoma Of The Breast

Toxoplasmosis

Disseminated Toxoplasmosis

Multisystemic Disseminated Toxoplasmosis

Acquired Toxoplasmosis

Toxoplasmosis Disease Or Disorder

Infection By Toxoplasma Gondii

Toxoplasmal

Toxoplasma

Tetanus

Lockjaw

Clostridial Tetanus

Infection Due To Clostridium Tetani

Lock-Jaw

Skeletal Muscle Cancer

Malignant Tumor Of Skeletal Muscle

Skeletal Muscle Neoplasm

Ornithosis

Psittacosis

Chlamydial Pneumonia

Chlamydia Psittaci Infection

Chlamydia Psittaci

Angiomyoma

Vascular Leiomyoma

Malignant Granular Cell Myoblastoma

Malignant Granular Cell Tumor

Granular Cell Tumor, Malignant

Malignant Granular Cell Neoplasm

Rheumatic Myocarditis

Acute Rheumatic Myocarditis

Active Rheumatic Fever With Myocarditis

Acute Rheumatic Carditis

Rheumatic Degeneration Of Myocardium

Rheumatic Fever With Myocarditis

Rheumatoid Myocarditis

Acute Rheumatic Heart Disease

Acute Rheumatic Fever With Myocarditis

Active Or Acute Rheumatic Myocarditis

Active Rheumatic Myocarditis

Active Rheumatic Progressive Myocarditis

Chronic Active Rheumatic Myocarditis

Old Active Rheumatic Myocarditis

Active Rheumatic Fibroid Myocarditis

Active Rheumatic Interstitial Myocarditis

Acute Or Subacute Rheumatic Myocardial Insufficiency

Acute Rheumatic Toxic Myocarditis

Inactive Or Quiescent Rheumatic Fever With Myocarditis

Inactive Rheumatic Myocarditis

Rheumatic Progressive Myocarditis

Rheumatic Fibroid Myocarditis

Rheumatic Interstitial Myocarditis

Myocardial Degeneration With Rheumatic Fever

Myocardial Insufficiency With Rheumatic Fever

Rheumatic Cardiomyopathy

Dilated Cardiomyopathy Due To Rheumatic Fever

Myocarditis Due To Rheumatic Fever

Rheumatic Myocardial Insufficiency

Peroneal Neuropathy

Peroneal Neuropathies

Glycogen Storage Disease V

Mcardle Disease

Myophosphorylase Deficiency

Glycogen Storage Disease Type V

Muscle Glycogen Phosphorylase Deficiency

Pygm Deficiency

Gsd V

Glycogen Storage Disease, Type V

Glycogenosis Type V

Glycogen Storage Disease Type 5

GSD5

Pygmy

Mcardle'S Disease

Mcardle Type Glycogen Storage Disease

Gsd Type V

Pygmy, African

Gsdv

Gsd 5

Glycogenosis 5

Mcardle Syndrome

Muscle Phosphorylase Deficiency

Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency

Gsd Due To Muscle Glycogen Phosphorylase Deficiency

Gsd Type 5

Glycogenosis Due To Muscle Glycogen Phosphorylase Deficiency

Glycogenosis Type 5

Glycogen Storage Disease 5

Gsd-V

Mcardles Disease

Storage Disease, Glycogen, Type V

Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia

Muscle Cancer

Myosarcoma

Malignant Neoplasm Of Muscle

Malignant Tumor Of Muscle

Malignant Tumor Of The Muscle

Muscle Neoplasms

Myomatous Neoplasm

Uterine Carcinosarcoma

Carcinosarcoma Of The Corpus Uteri

Mixed Mullerian Sarcoma Of Uterus

Malignant Mixed Müllerian Tumor Of The Corpus Uteri

Malignant Mixed Müllerian Tumor Of Corpus Uteri

Mixed Müllerian Cancer Of Corpus Uteri

Malignant Mixed Mullerian Tumor Of The Corpus Uteri

Mixed Mullerian Cancer Of Corpus Uteri

Uterine Corpus Carcinosarcoma

Gallbladder Leiomyosarcoma

Leiomyosarcoma Of The Gallbladder

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Ectopic Pregnancy

Eccyesis

Pregnancy Ectopic

Pregnancy, Ectopic

Ectopic Pregnancies

Extrauterine Gestation Or Pregnancy

Extrauterine Pregnancy

Ep - [Ectopic Pregnancy]

Ectopic Mole

Aborted Ectopic Pregnancy

Ruptured Ectopic Pregnancy

Creatine Phosphokinase, Elevated Serum

Hyperckemia, Idiopathic

Cpk, Elevated Serum

Hyperckmia

HYPCK

Cardiac Arrest

Cardiopulmonary Arrest

Circulatory Arrest

Heart Arrest

Renal Pelvis Squamous Cell Carcinoma

Epidermoid Carcinoma Of The Kidney Pelvis

Squamous Cell Carcinoma Of Renal Pelvis

Methemoglobinemia
Intermediate Coronary Syndrome

Unstable Angina

Angina At Rest

Anginal Chest Pain At Rest

Impending Infarction

Preinfarction Angina

Worsening Angina

Angina, Unstable

Myocardial Preinfarction Syndrome

Angina Unstable

Crescendo Angina

Angina Decubitus

Acute Coronary Insufficiency

Unstable Angina Pectoris

Preinfarctional Angina Pectoris

Worsening Effort Angina

Preinfarction Syndrome

Unstable Angina Pectoris Syndrome

Unstable Anginal Attack

Unstable Cardiac Angina

Unstable Chest Angina

Unstable Heart Angina

De Novo Effort Angina Pectoris

Crescendo Angina Pectoris

Ua - [Unstable Angina]

Corneal Dystrophy, Subepithelial Mucinous

Subepithelial Mucinous Corneal Dystrophy

SMCD

Pericardium Disease
Ceftriaxone Allergy

Rocephin Allergy

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

Hypokalemia

Potassium Deficiency

Potassium Deficiency Disorder

Hypopotassemia

Potassium

Potassium [K] Deficiency

Hypokalaemic Syndrome

Hypopotassaemia

Hypopotassaemia Syndrome

Hypokalaemic

Potassium Depletion

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Muscular Disease
Critical Illness Polyneuropathy

Polyneuropathy, Critical Illness

Muscle Tissue Disease
Isolated Elevated Serum Creatine Phosphokinase Levels

Elevated Serum Cpk

Idiopathic Hyperckemia

Isolated Hyperckemia

Elevated Serum Creatine Phosphokinase

H-Ck

Idiopathic Persistent Elevation Of Serum Creatine Kinase

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Muscular Dystrophy, Duchenne Type

Duchenne Muscular Dystrophy

DMD

Muscular Dystrophy, Duchenne

Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type

Severe Dystrophinopathy, Duchenne Type

Muscular Dystrophy Duchenne

Dystrophy, Muscular, Duchenne Type

Benign Duchenne Muscular Dystrophy

Duchenne Motor Neuron Disease

Duchenne Type Dystrophy

Duchenne-Griesinger Disease

Porphyria, Acute Intermittent

Acute Intermittent Porphyria

Porphobilinogen Deaminase Deficiency

Pbgd Deficiency

AIP

Porphyria, Swedish Type

Uroporphyrinogen Synthase Deficiency

Ups Deficiency

Porphyria, Acute Intermittent, Nonerythroid Variant

Hydroxymethylbilane Synthase Deficiency

Aip - Acute Intermittent Porphyria

Porphyria Intermittent Acute

Pyrroloporphyria

Hmbs Deficiency

Porphyria Acute Intermittent

Plexopathy
Variegate Porphyria

Porphyria Variegata

Protoporphyrinogen Oxidase Deficiency

VP

Ppox Deficiency

Porphyria, South African Type

Porphyria Variegata, Susceptibility To

Protocoproporphyria

Porphyria Variegate

Porphyria South African Type

Pv

Porphyria, Variegate

Vp - [Variegate Porphyria]

Coronary Artery Vasospasm

Coronary Vasospasm

Coronary Artery Spasm

Pericardial Effusion

Noninflammatory Pericardial Effusion

Pericardium Effusion

Prostate Embryonal Rhabdomyosarcoma

Embryonal Rhabdomyosarcoma Of The Prostate

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

Uterine Sarcoma

Sarcoma Of The Uterus

Uterine Corpus Sarcoma

Extrinsic Cardiomyopathy
Corneal Dystrophy, Posterior Polymorphous, 2

Posterior Polymorphous Corneal Dystrophy 2

PPCD2

Corneal Dystrophy, Posterior Polymorphous 2

Corneal Dystrophy Polymorphous Posterior, 2

Dystrophy, Corneal, Posterior Polymorphous, Type 2

Lung Clear Cell Carcinoma
Hemoglobinopathy

Hemoglobinopathies

Vulvar Proximal-Type Epithelioid Sarcoma
Central Epithelioid Sarcoma

Proximal-Type Epithelioid Sarcoma

Cardiovascular System Disease

Abnormality Of The Cardiovascular System

Cardiovascular Disease

Disease Of Subdivision Of Hemolymphoid System

Disorder Of Cardiovascular System

Cardiovascular Diseases

Hypermethioninemia Due To Adenosine Kinase Deficiency

Adk Hypermethioninemia

Hypermethioninemia Encephalopathy Due To Adenosine Kinase Deficiency

Hypermethioninemia Encephalopathy Due To Adk Deficiency

Mrt8

Mental Retardation, Autosomal Recessive 8, Formerly

Mrt8, Formerly

HMAKD

Mental Retardation, Autosomal Recessive 8

Lipid Metabolism Disorder

Dyslipidemia

Disorder Of Fatty Acid Metabolism

Lipid Metabolism Disorders

Fatty Acid Metabolism Disorder

Disorder Of Lipid Metabolism

Abnormality Of Lipid Metabolism

Lipid Metabolism, Inborn Errors

Dyslipidemias

Disorders Of Lipid Metabolism

Congenital Disorders Of Lipid Metabolism

Inherited Disorders Of Lipid Metabolism

Sodoku Disease

Spirillosis

Sodoku

Spirillary Fever

Rat-Bite Fever

Rat-Bite Fever Due To Spirillum Minus

Spirillary Rat-Bite Fever

Sokosho

Retinitis Pigmentosa 7

Leber Congenital Amaurosis 18

RP7

Retinitis Pigmentosa 7, Digenic Form

Retinitis Pigmentosa 7 And Digenic Form

Retinitis Pigmentosa 7, Digenic

LCA18

Retinitis Pigmentosa 7 Digenic

Stroke, Ischemic

Cerebral Infarction

Stroke

Ischemic Stroke

Cerebrovascular Accident

Cerebral Infarction, Susceptibility To

Stroke, Ischemic, Susceptibility To

Cerebral Infarct

Ischemic Stroke, Susceptibility To

Stroke, Susceptibility To

Cva - Cerebral Infarction

ISCHSTR

Ischemic Cerebrovascular Accident

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

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Bilirubin Metabolic Disorder

Hyperbilirubinemia

Hereditary Hyperbilirubinemia

Hyperbilirubinemia, Hereditary

Hyperbilirubinaemia

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

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
Bos taurus MB VGNC VGNC:31270
Canis familiaris MB VGNC VGNC:43046
Macaca mulatta MB VGNC VGNC:74668
Rattus norvegicus MB RGD RGD:620411
Mus musculus MB MGD MGI:96922
Macaca fascicularis MB NCBI
Leporidae MB NCBI
Others MB NCBI