SELENON - selenoprotein N Gene

Also Known as RSS; CFTD; SELN; MDRS1; RSMD1; SEPN1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57190

About SELENON

Cytogenetic location: 1p36.11 Genomic coordinates (GRCh38): 1:25,800,193-25,818,221 (from NCBI)

This gene has 4 transcripts (splice variants), 106 orthologues, 2 paralogues and is associated with 7 phenotypes. Ubiquitous expression in prostate (RPKM 28.6), lung (RPKM 27.8) and 25 other tissues.

Summary

This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in this gene are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. SEPN1-related myopathy consists of 4 autosomal recessive disorders, originally thought to be separate entities: rigid spine muscular dystrophy (RSMD1), the classical form of multiminicore disease, desmin related myopathy with Mallory-body like inclusions, and congenital fiber-type disproportion (CFTD). This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2016]

SELENON Products (2)

mRNA Protein Name
NM_020451.3 NP_065184.2 selenoprotein N isoform 2
NM_206926.2 NP_996809.1 selenoprotein N isoform 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
17474147 GOA
Biological Process GO Annotation Evidence References Source
involved in calcium ion homeostasis IMP
IMP: Inferred from mutant phenotype
19557870 GOA
involved in positive regulation of response to oxidative stress IMP
IMP: Inferred from mutant phenotype
19557870 GOA
involved in regulation of ryanodine-sensitive calcium-release channel activity IMP
IMP: Inferred from mutant phenotype
18713863 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
12700173 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

SELENON Protein Structure

(105 - 136)

(105 - 136)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 590 a.a.
Protein Preferred Names Protein Names

selenoprotein N

  • selenoprotein N, 1

SELENON Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SELENON Q9NZV5 NCK1 Homo sapiens P16333 17474147
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Rigid Spine Muscular Dystrophy 1
  • Rigid Spine Syndrome

  • RSMD1

  • Rss

  • Mdrs1

  • Eichsfeld Type Congenital Muscular Dystrophy

  • Desmin-Related Myopathy With Mallory Bodies

  • Classic Multiminicore Myopathy

  • Sepn1-Related Myopathy

  • Multicore Myopathy, Severe Classic Form

  • Minicore Myopathy, Severe Classic Form

  • Multiminicore Disease, Severe Classic Form

  • Muscular Dystrophy, Rigid Spine, 1

  • Classic Mmd

  • Classic Multiminicore Disease

  • Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity

  • Desmin-Related Myopathy With Mallory Body-Like Inclusions

  • Early-Onset Desmin-Related Myopathy

  • Myopathy, Sepn1-Related

  • Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity

  • Muscular Dystrophy, Congenital, Eichsfeld Type

  • Severe Classic Form Minicore Myopathy

  • Severe Classic Form Multicore Myopathy

  • Severe Classic Form Multiminicore Disease

  • Desmin-Related Myopathies With Mallory Bodies

  • Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity

  • Rigid Spine Muscular Dystrophy-1

  • Rigid Spine Congenital Muscular Dystrophy

  • Congenital Muscular Dystrophy Eichsfeld Type

  • Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity

  • Minicore Myopathy Severe Classic Form

  • Multicore Myopathy Severe Classic Form

  • Multiminicore Disease Severe Classic Form

  • Dystrophy, Muscular, Rigid Spine, Type 1

Myopathy, Congenital, With Fiber-Type Disproportion
  • CFTD

  • Fiber-Type Disproportion Myopathy, Congenital

  • Cftdm

  • Myopathy, Congenital, With Fiber-Type Disproportion 1

  • Congenital Fiber-Type Disproportion Myopathy

  • Myopathy, Congenital, With Fiber Type Disproportion

Congenital Fiber-Type Disproportion
  • Congenital Fiber Type Disproportion

  • Cftdm

  • Congenital Myopathy With Fiber Type Disproportion

  • Cftd

  • Congenital Fiber-Type Disproportion Myopathy

  • Fiber-Type Disproportion Myopathy, Congenital

  • Myopathy, Congenital With Fiber-Type Disproportion

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

Multiminicore Disease
  • Multiminicore Myopathy

  • Mmd

  • Minicore Disease

  • Minicore Myopathy

  • Multi-Core Congenital Myopathy

  • Multi-Core Disease

  • Multi-Minicore Disease

  • Multicore Disease

  • Multicore Myopathy

  • Minicore Myopathy With External Ophthalmoplegia

Rigid Spine Muscular Dystrophy
  • Congenital Muscular Dystrophy With Spine Rigidity Syndrome

  • Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity

  • Rigid Spinal Muscular Dystrophy

  • Rigid Spine Congenital Muscular Dystrophy

  • Rsmd

  • Congenital Muscular Dystrophy With Rigid Spine

  • Dystrophy, Muscular, Rigid Spine

Central Core Disease Of Muscle
  • Central Core Disease

  • Central Core Myopathy

  • CCD

  • Cco

  • Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber

  • Myopathy, Central Core

  • Shy-Magee Syndrome

  • Muscle Core Disease

  • Muscular Central Core Disease

  • Myopathy, Central Fibrillar

  • Shy'S Disease

  • Moderate Multiminicore Disease With Hand Involvement

Myopathy, Myofibrillar, 1
  • Desmin-Related Myofibrillar Myopathy

  • Desmin-Related Myopathy

  • MFM1

  • Myopathy, Myofibrillar, Desmin-Related

  • Drm

  • Myofibrillar Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy

  • Desmin-Related Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy

  • Myofibrillar Myopathy 1

  • Desminopathy

  • Muscular Dystrophy, Limb-Girdle, Type 2r

  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 7

  • Desminopathy, Primary

  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly

  • Arvd7, Formerly

  • Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly

  • Arvc7, Formerly

  • Inclusion Body Myopathy 1, Autosomal Dominant, Formerly

  • Ibm1, Formerly

  • Cardiomyopathy, Dilated, 1f And Limb-Girdle Muscular Dystrophy Type 1d, Formerly

  • Cmd1f And Lgmd1d, Formerly

  • Cardiomyopathy, Dilated, With Conduction Defect And Muscular Dystrophy

  • Cdcd3, Formerly

  • Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly

  • Lgmd2r, Formerly

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r

  • Arrhythmogenic Right Ventricular Cardiomyopathy 7

  • Arvc7

  • Arvd7

  • Autosomal Dominant Inclusion Body Myopathy 1

  • Cdcd3

  • Cmd1f And Lgmd1d

  • Desminopathy Primary

  • Dilated Cardiomyopathy 1f And Limb-Girdle Muscular Dystrophy Type 1d

  • Dilated Cardiomyopathy With Conduction Defect And Muscular Dystrophy

  • Familial Arrhythmogenic Right Ventricular Dysplasia 7

  • Lgmd2r

  • Limb-Girdle Muscular Dystrophy 2r

  • Mfm Desmin-Related

  • Myopathy Myofibrillar Desmin-Related

  • Dystrophy, Muscular, Limb-Girdle, Type 2r

Myopathy
  • Muscular Diseases

  • Myopathies

Batten-Turner Congenital Myopathy
  • Congenital Myopathy

  • Batten Turner Congenital Myopathy

  • Myopathy Congenital

  • Myopathy, Congenital

  • Myotonia Congenita

  • Benign Congenital Myopathy

Congenital Muscular Dystrophy-Dystroglycanopathy Type A10
  • Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A10

  • Mddga10

  • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Tmem5-Related

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

Muscular Dystrophy, Congenital, Lmna-Related
  • Congenital Muscular Dystrophy

  • Congenital Muscular Dystrophy Due To Lmna Mutation

  • MDCL

  • L-Cmd

  • Lmna-Related Congenital Muscular Dystrophy

  • Muscular Dystrophy, Congenital

  • Congenital Muscular Dystrophy Lmna-Related

  • Lmna-Related Cmd

  • Cmd

  • Mdc

  • Muscular Dystrophy Congenital Lmna-Related

  • Dystrophy, Muscular, Congenital, Lmna-Related

  • Dystrophy, Muscular, Congenital

  • Hereditary Muscular Dystrophy

  • Congenital Hereditary Muscular Dystrophy

  • Congenital Progressive Muscular Dystrophy

  • Hereditary Progressive Muscular Dystrophy

Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
  • EMARDD

  • Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset, Mild Variant

  • Early-Onset Myopathy-Areflexia-Respiratory Distress-Dysphagia Syndrome

  • Early-Onset Myopathy, Areflexia, Respiratory Distress And Dysphagia

  • Myopathy, Early-Onset, Areflexia, Respiratory Distress, And Dysphagia

Congenital Muscular Dystrophy-Dystroglycanopathy A14
  • Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A14

  • Mddga14

  • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Gmppb-Related

  • Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A 14

Pontocerebellar Hypoplasia, Type 2d
  • Pontocerebellar Hypoplasia Type 2d

  • Pcca

  • PCH2D

  • Progressive Cerebello-Cerebral Atrophy

  • Cerebellocerebral Atrophy, Progressive

  • Pontocerebellar Hypoplasia 2d

  • Progressive Cerebellocerebral Atrophy

  • Hypoplasia, Pontocerebellar, Type 2d

Congenital Muscular Dystrophy-Dystroglycanopathy Type A12
  • Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A12

  • Mddga12

  • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Pomk-Related

Staphyloenterotoxemia
  • Staphylococcal Food Poisoning

  • Staphylococcal Toxaemia Due To Food

  • Staphyloenterotoxicosis

Carey-Fineman-Ziter Syndrome 1
  • Carey-Fineman-Ziter Syndrome

  • CFZS

  • Congenital Nonprogressive Myopathy With Moebius And Robin Sequences

  • Myopathy, Congenital Nonprogressive, With Moebius Sequence And Robin Sequence

  • Cfz Syndrome

  • Carey Fineman Ziter Syndrome

  • Myopathy, Congenital Nonprogressive With Moebius And Robin Sequences

  • Myopathy-Moebius-Robin Syndrome

  • CFZS1

  • Moebius Sequence, Robin Complex, And Hypotonia

  • Congenital Non-Progressive Myopathy With Moebius And Robin Sequences

Bethlem Myopathy 1
  • Bethlem Myopathy

  • Myopathy, Benign Congenital, With Contractures

  • Muscular Dystrophy, Benign Congenital

  • BTHLM1

  • Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5

  • Lgmdd5

  • Benign Congenital Muscular Dystrophy

  • Benign Autosomal Dominant Myopathy

  • Myopathy, Bethlem

  • Myopathy, Bethlem, Type 1

Myopathy, Congenital, Bailey-Bloch
  • Native American Myopathy

  • Nam

  • MYPBB

  • Myopathy, Congenital, Baily-Bloch

  • Anti-Hmg-Coa Myopathy

  • Anti-Srp Myopathy

  • Autoimmune Necrotizing Myositis

  • Imnm

  • Immune Myopathy With Myocyte Necrosis

  • Immune-Mediated Necrotizing Myopathy

  • Myopathy, Congenital, With Myopathic Facies, Scoliosis, And Malignant Hyperthermia

  • Necrotizing Autoimmune Myopathy

  • Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome

  • Congenital Myopathy With Cleft Palate And Malignant Hyperthermia

Congenital Structural Myopathy
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
  • KAESER SYNDROME

  • Stark-Kaeser Syndrome

  • Neurogenic Scapuloperoneal Syndrome Kaeser Type

  • Neurogenic Scapuloperoneal Syndrome, Kaeser Type

  • Scapuloperoneal Syndrome, Neurogenic Type, Of Kaeser

  • SCPNK

  • Scapuloperoneal Syndrome Type Kaeser

Scoliosis
Rhabdomyolysis-Myalgia Syndrome
Muscular Dystrophy, Congenital Merosin-Deficient, 1a
  • MDC1A

  • Lama2-Related Muscular Dystrophy

  • Atrophie Blanche

  • Muscular Dystrophy, Congenital Merosin-Deficient

  • Congenital Merosin-Deficient Muscular Dystrophy 1a

  • Merosin-Negative Congenital Muscular Dystrophy

  • Muscular Dystrophy White Matter Spongiosis

  • Merosin Deficient Congenital Muscular Dystrophy

  • Muscular Dystrophy Congenital, Merosin Negative

  • Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient

  • Cmd1a

  • Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency

  • Congenital Muscular Dystrophy Type 1a

  • Laminin Alpha-2 Deficiency

  • Merosin-Deficient Congenital Muscular Dystrophy

  • Muscular Dystrophy, Congenital, Merosin-Deficient

  • Lama2 Md

  • Laminin Alpha 2 Deficiency

  • Laminin Alpha-2 Deficient Muscular Dystrophy

  • Merosin-Deficient Muscular Dystrophy

  • Muscular Dystrophy Due To Lama2 Deficiency

  • Merosin-Deficient Congenital Muscular Dystrophy 1a

  • Cardiomyopathy, Familial Idiopathic

Congenital Muscular Dystrophy-Dystroglycanopathy Type A11
  • Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A11

  • Mddga11

  • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease B3galnt2-Related

  • Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A11

Ullrich Congenital Muscular Dystrophy 1
  • Ullrich Congenital Muscular Dystrophy

  • Ullrich Disease

  • Ucmd

  • Ullrich Scleroatonic Muscular Dystrophy

  • Scleroatonic Muscular Dystrophy

  • UCMD1

  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22

  • Lgmdr22

  • Muscular Dystrophy, Scleroatonic

  • Late Onset Scleroatonic Familial Myopathy

  • Congenital Muscular Dystrophy, Ullrich Type

Myopathy, Centronuclear, 1
  • Autosomal Dominant Centronuclear Myopathy

  • CNM1

  • Centronuclear Myopathy 1

  • Ad-Cnm

  • Myopathy, Centronuclear, Autosomal Dominant

  • Myotubular Myopathy, Autosomal Dominant

  • Centronuclear Myopathy, Autosomal, Modifier Of

  • Autosomal Dominant Myotubular Myopathy

  • Dnm2-Related Centronuclear Myopathy

  • Centronuclear Myopathy Autosomal Dominant

  • Myopathies, Structural, Congenital

  • Myopathy, Centronuclear, Type 1

Hyaline Body Myopathy
  • Myosin Storage Myopathy

  • Autosomal Dominant Hyaline Body Myopathy

  • Myopathy, Myosin Storage

Keshan Disease
  • Caused By Deficiency Of Selenium In The Diet

  • Enlarged Heart And Poor Heart Function

King-Denborough Syndrome
  • King Denborough Syndrome

  • King Syndrome

  • Kousseff Nichols Syndrome

  • KDS

  • Noonan Like Contracture Myopathy Hyperpyrexia

  • Anesthetic-Induced Malignant Hyperpyrexia In Children

  • Koussef-Nichols Syndrome

Bone Structure Disease
Centronuclear Myopathy
  • Myopathy, Centronuclear

  • Myotubular Myopathy

  • Cnm

  • Myopathy, Myotubular

  • Congenital Structural Myopathy

Myopathy, Distal, 1
  • Laing Distal Myopathy

  • Laing Early-Onset Distal Myopathy

  • MPD1

  • Distal Myopathy 1

  • Myopathy, Distal, Early-Onset, Autosomal Dominant

  • Distal Myopathy Type 1

  • Gowers Disease

  • Myopathy, Late Distal Hereditary

  • Myopathy Distal, Type 1

  • Myopathy Distal Early-Onset Autosomal Dominant

  • Myopathy Late Distal Hereditary

  • Myopathy, Distal, Type 1

  • Welander Distal Myopathy

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
  • Jacobs Syndrome

  • Arthropathy-Camptodactyly Syndrome

  • Pericarditis-Arthropathy-Camptodactyly Syndrome

  • Xyy Syndrome

  • Pac Syndrome

  • Cacp Syndrome

  • CACP

  • Fibrosing Serositis, Familial

  • Camptodactyly-Arthropathy-Pericarditis Syndrome

  • Cap Syndrome

  • 47, Xyy Syndrome

  • 47,Xyy Syndrome

  • Double Y Syndrome

  • Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome

  • Hypertrophic Synovitis, Congenital Familial

  • Congenital Familial Hypertrophic Synovitis

  • Xyy Karyotype

  • Y Disomy

  • Yy Syndrome

  • Familial Fibrosing Serositis

  • Disomy Y

  • Double Y

  • Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome

  • Arthropathy Camptodactyly Syndrome

  • Camptodactyly Arthropathy Pericarditis Syndrome

  • Pericarditis Arthropathy Camptodactyly Syndrome

  • Jacob'S Syndrome

  • 47,Xyy

  • Cdags Syndrome

Malignant Hyperthermia
  • Anesthesia Related Hyperthermia

  • Malignant Hyperpyrexia Due To Anesthesia

  • Hyperpyrexia, Malignant

  • Hyperthermia, Malignant

  • Malignant Hyperpyrexia

  • Mhs

  • Malignant Fever

Ocular Motility Disease
  • Ocular Motility Disorders

  • Abnormality Of Eye Movement

  • Disorder Of Eye Movements

  • Eye Movement Disorder

  • Eye Movement Disorders

Distal Arthrogryposis
  • Arthrogryposis Multiplex Congenita

  • Arthrogryposis

  • Congenital Multiple Arthrogryposis

  • Congenital Arthromyodysplasia

  • Fibrous Ankylosis Of Multiple Joints

  • Guerin-Stern Syndrome

  • Guérin-Stern Syndrome

  • Myodystrophia Fetalis Deformans

  • Otto Syndrome

  • Rocher-Sheldon Syndrome

  • Rossi Syndrome

  • Amc

  • Multiple Congenital Arthrogryposis

  • Arthrogryposis Syndrome

  • Arthrogryposis, Distal

  • Distal Arthrogryposis Syndrome

  • Freeman-Sheldon Syndrome

  • Arthrogryposis, Distal, Type 2b

  • Congenital Multiplex Arthrogryposis

  • Amyoplasia Congenita

  • Congenital Amyoplasia

  • Amc - [Arthrogryposis Multiplex Congenita]

Myofibrillar Myopathy
  • Desmin Related Myopathy

  • Myotilinopathy

  • Myopathy, Myofibrillar

  • Alpha Beta Crystallinopathy

  • Desmin Storage Myopathy

  • Desminopathy

  • Filaminopathy

  • Protein Surplus Myopathy

  • Zaspopathy

  • Myofibrillar Myopathies

  • Myopathy, Myofibrillar, Desmin-Related

  • Myopathy, Desmin Storage

  • Mfm - [Myofibrillar Myopathy]

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

Walker-Warburg Syndrome
  • Hard Syndrome

  • Walker-Warburg Congenital Muscular Dystrophy

  • Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

  • Cod-Md Syndrome

  • Chemke Syndrome

  • Hydrocephalus, Agyria And Retinal Dysplasia

  • Cerebroocular Dysgenesis

  • Cerebroocular Dysplasia Muscular Dystrophy Syndrome

  • Hard +/- E Syndrome

  • Pagon Syndrome

  • Warburg Syndrome

  • Hydrocephalus, Agyria, And Retinal Dysplasia

  • Mddga

  • Muscular Dystrophy-Dystroglycanopathy , Type A

  • Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

  • Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

  • Wws

  • Dystrophy, Muscular, Dystroglycanopathy, Type A

Commensal Bacterial Infectious Disease
Congenital Myasthenic Syndrome
  • Congenital Myasthenia

  • Congenital Myasthenic Syndromes

  • Cms

  • Myasthenic Syndromes, Congenital

  • Myasthenic Syndromes Congenital

  • Myasthenic Syndrome, Congenital

  • Congenital Myasthenic Syndrome Ib

  • Congenital And Developmental Myasthenia

  • Developmental Myasthenia

Cardiomyopathy, Familial Hypertrophic, 1
  • Asymmetric Septal Hypertrophy

  • Familial Hypertrophic Cardiomyopathy

  • Hypertrophic Cardiomyopathy 1

  • CMH1

  • Hypertrophic Cardiomyopathy 19

  • CMH

  • Ventricular Hypertrophy, Hereditary

  • Ash

  • Hypertrophic Subaortic Stenosis, Idiopathic

  • Cardiomyopathy, Familial Hypertrophic

  • Cardiomyopathy, Hypertrophic, 1, Digenic

  • Cardiomyopathy, Familial Hypertrophic 1

  • Hcm

  • Hereditary Ventricular Hypertrophy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Hypertrophic Cardiomyopathy

  • Cardiomyopathy, Hypertrophic, Familial

  • Cardiomyopathy, Hypertrophic, 1

  • Familial Asymmetric Septal Hypertrophy

  • Heritable Hypertrophic Cardiomyopathy

  • Fhc

  • Cardiomyopathy, Hypertrophic, Familial, Type 1

Muscle Tissue Disease
Autosomal Recessive Limb-Girdle Muscular Dystrophy
  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

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

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 SELENON VGNC VGNC:56142
Felis catus SELENON VGNC VGNC:107618
Macaca mulatta SELENON VGNC VGNC:81190
Rattus norvegicus SELENON RGD RGD:1304574
Mus musculus SELENON MGD MGI:2151208