1. Gene
  2. SGCB - sarcoglycan beta Gene

SGCB - sarcoglycan beta Gene

Homo sapiens

Also known as A3b; SGC; LGMD2E; LGMDR4

Gene ID: 6443 | Gene type: protein coding

About SGCB

Cytogenetic location: 4q12 Genomic coordinates (GRCh38): 4:52,020,706-52,038,299 (from NCBI)

This gene has 3 transcripts (splice variants), 201 orthologues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 22.7), brain (RPKM 22.7) and 23 other tissues.

Summary

This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle Cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008]

SGCB Products(1)

mRNA Protein Name
NM_000232.5 NP_000223.1 beta-sarcoglycan
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
Cellular Component GO Annotation Evidence Reference Source
part of dystrophin-associated glycoprotein complex IDA
IDA: Inferred from direct assay
17993586 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

SGCB Protein Structure

Sarcoglycan_1

Sarcoglycan_1: Sarcoglycan complex subunit protein (52 - 308)

  • 0
  • 100
  • 200
  • 300
  • 318 a.a.
Protein Preferred Names Protein Names

beta-sarcoglycan

43 kDa dystrophin-associated glycoprotein

SGCB Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra SGCB Q16585 MGST2 Homo sapiens Q99735
Validated Y2H
32296183
Intra SGCB Q16585 CMTM5 Homo sapiens Q96DZ9-2
Validated Y2H
32296183
Intra SGCB Q16585 CLEC7A Homo sapiens Q9BXN2-6
Validated Y2H
32296183
Intra SGCB Q16585 BRICD5 Homo sapiens Q6PL45-2
Validated Y2H
32296183
Intra SGCB Q16585 SLC52A1 Homo sapiens Q9NWF4
Validated Y2H
32296183
Intra SGCB Q16585 NINJ1 Homo sapiens Q92982
Validated Y2H
32296183
Intra SGCB Q16585 SMIM3 Homo sapiens Q9BZL3
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

Lgmd2e

Muscular Dystrophy, Limb-Girdle, Type 2e

LGMDR4

Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

Beta-Sarcoglycan-Related Lgmd R4

Beta-Sarcoglycanopathy

Lgmd Due To Beta-Sarcoglycan Deficiency

Lgmd Type 2e

Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency

Limb-Girdle Muscular Dystrophy Type 2e

Limb-Girdle Muscular Dystrophy 2e

Qualitative Or Quantitative Defects Of Beta-Sarcoglycan
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Lgmd2b

Muscular Dystrophy, Limb-Girdle, Type 2b

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

Beta-Sarcoglycanopathy

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y

Muscular Dystrophy, Limb-Girdle, Type 3

Lgmd3

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s

LGMDR2

Muscular Dystrophy, Limb-Girdle, Type 2s

Limb-Girdle Muscular Dystrophy Type 2b

Lgmd2e

Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency

Muscular Dystrophy, Limb-Girdle, Type 2e

Lgmd2s

Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency

Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency

Lgmd2y

Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine

Muscular Dystrophy, Limb-Girdle, Type 2y

Dysferlin-Related Limb-Girdle Muscular Dystrophy R2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Dysferlin-Related Lgmd R2

Lgmd Due To Dysferlin Deficiency

Lgmd Type 2b

Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

Limb-Girdle Muscular Dystrophy 2b

Limb-Girdle Muscular Dystrophy, Type 2b

Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2

Dystrophy, Muscular, Limb-Girdle, Type 2b

Limb-Girdle Muscular Dystrophy, Type 2e

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1

Calpainopathy

Lgmd2a

Muscular Dystrophy, Limb-Girdle, Type 2a

Lgmd2

Muscular Dystrophy, Pelvofemoral

LGMDR1

Muscular Dystrophy, Limb-Girdle, Type 2

Leyden-Moebius Muscular Dystrophy

Limb-Girdle Muscular Dystrophy Type 2a

Muscular Dystrophy Limb Girdle Type 2a, Erb Type

Limb-Girdle Muscular Dystrophy, Type 2e

Limb-Girdle Muscular Dystrophy Type 2

Limb-Girdle Muscular Dystrophy Type 2e

Beta-Sarcoglycan Limb-Girdle Muscular Dystrophy

Lgmd2e

Muscular Dystrophy Limb-Girdle With Beta-Sarcoglycan Deficiency

Leyden-Moebious Muscular Dystrophy

Limb-Girdle Muscular Dystrophy 2a

Limb-Girdle Muscular Dystrophy, Type 2a

Limb-Girdle Muscular Dystrophy, Type 2s

Dystrophy, Muscular, Limb-Girdle, Type 2e

Dystrophy, Muscular, Limb-Girdle, Type 2s

Muscular Dystrophy, Limb-Girdle, Type 2s

Beta-Sarcoglycanopathy

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

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

Limb-Girdle Muscular Dystrophy

Lgmd

Limb Girdle Muscular Dystrophy

Muscular Dystrophies, Limb-Girdle

Erb'S Muscular Dystrophy

Leyden-Mbius Muscular Dystrophy

Limb-Girdle Syndrome

Myopathic Limb-Girdle Syndrome

Limb Girdle

Muscular Dystrophy Limb-Girdle

Dystrophy, Muscular, Limb-Girdle

Lgmd - [Limb-Girdle Muscular Dystrophy]

Limb Girdle Muscle Dystrophy

Limb-Girdle Myopathy

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

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Delta-Sarcoglycanopathy

Lgmd2f

Limb-Girdle Muscular Dystrophy Due To Delta-Sarcoglycan Deficiency

Limb-Girdle Muscular Dystrophy Type 2f

Muscular Dystrophy-Dystroglycanopathy , Type C, 9

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2p

Lgmd2p

MDDGC9

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 16

Lgmdr16

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Dag1-Related

Muscular Dystrophy, Limb-Girdle, Type 2p

Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Dag1-Related

Muscular Dystrophy-Dystroglycanopathy Type C9

Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16

Alpha-Dystroglycan-Related Lgmd R16

Lgmd Type 2p

Limb-Girdle Muscular Dystrophy Type 2p

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C9

Muscular Dystrophy Limb-Girdle Type 2p

Dystrophy, Muscular, Limb-Girdle, Type 2p

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

Autosomal Recessive Duchenne-Like Muscular Dystrophy Type 1

Deficiency Of Sarcoglycan Gamma

Dmda1

Gamma-Sarcoglycanopathy

Lgmd2c

Limb-Girdle Muscular Dystrophy Due To Gamma-Sarcoglycan Deficiency

Maghrebian Myopathy

Muscular Dystrophy, Limb-Girdle, Type 2c

Scarmd

Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d

Alpha-Sarcoglycanopathy

Dmda2

Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2

Lgmd2d

Muscular Dystrophy, Limb-Girdle, Type 2d

Primary Adhalinopathy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6

Lgmd2f

Muscular Dystrophy, Limb-Girdle, Type 2f

Limb-Girdle Muscular Dystrophy Type 2f

LGMDR6

Muscular Dystrophy Limb-Girdle With Delta-Sarcoglyan Deficiency

Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f

Delta-Sarcoglycan-Related Lgmd R6

Delta-Sarcoglycanopathy

Lgmd Due To Delta-Sarcoglycan Deficiency

Lgmd Type 2f

Limb-Girdle Muscular Dystrophy Due To Delta-Sarcoglycan Deficiency

Limb-Girdle Muscular Dystrophy 2f

Limb-Girdle Muscular Dystrophy, Type 2f

Dystrophy, Muscular, Limb-Girdle, Type 2f

Cardiomyopathy, Dilated, 1l

Dilated Cardiomyopathy 1l

CMD1L

Cardiomyopathy, Dilated 1l

Cardiomyopathy, Dilated, Type 1l

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a

Leyden-Moebius Muscular Dystrophy

Lgmd2a

Limb-Girdle Muscular Dystrophy Due To Calpain Deficiency

Muscular Dystrophy, Limb-Girdle, Type 2a

Pelvofemoral Muscular Dystrophy

Primary Calpainopathy

N1 Diffuse Large B-Cell Lymphoma

N1 Dlbcl

Doid:0081067

Muscular Dystrophy, Limb-Girdle, Type 1h

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1h

LGMD1H

Muscular Dystrophy Limb-Girdle Type 1h

Dystrophy, Muscular, Limb-Girdle, Type 1h

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l

Lgmd2l

Muscular Dystrophy, Limb-Girdle, Type 2l

Miyoshi Muscular Dystrophy

Distal Myopathy

Distal Muscular Dystrophy

Miyoshi Myopathy

Distal Myopathies

Dystrophy, Muscular, Miyoshi

Myopathy, Distal

Distal Muscular Dystrophies

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

Muscular Dystrophy, Limb-Girdle, Type 1f

Lgmd1f

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f

LGMDD2

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 2

Muscular Dystrophy Limb-Girdle Type 1f

Tnp03-Related Limb-Girdle Muscular Dystrophy D2

Lgmd Type 1f

Limb-Girdle Muscular Dystrophy Type 1f

Limb-Girdle Muscular Dystrophy 1f

Dystrophy, Muscular, Limb-Girdle, Type 1f

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Cardiomyopathy, Dilated, 1g

Dilated Cardiomyopathy 1g

CMD1G

Cardiomyopathy, Dilated 1g

Cardiomyopathy, Dilated, Type 1g

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Lgmd2b

Lgmd3

Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

Limb-Girdle Muscular Dystrophy Type 3

Muscular Dystrophy, Limb-Girdle, Type 2b

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j

Lgmd2j

Muscular Dystrophy, Limb-Girdle, Type 2j

Myopathy

Muscular Diseases

Myopathies

Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k

Lgmd2k

MDDGC1

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 11

Lgmdr11

Muscular Dystrophy, Limb-Girdle, Type 2k

Limb-Girdle Muscular Dystrophy-Intellectual Disability Syndrome

Limb-Girdle Muscular Dystrophy Type 2k

Muscular Dystrophy Limb-Girdle Type 2k

Muscular Dystrophy-Dystroglycanopathy Type C 1

Pomt1-Related Limb-Girdle Muscular Dystrophy R11

Lgmd Type 2k

Pomt1-Related Lgmd R11

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C1

Dystrophy, Muscular, Limb-Girdle, Type 2k

Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C1

Muscular Dystrophy-Dystroglycanopathy , Type C, 14

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2t

Lgmd2t

MDDGC14

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 19

Lgmdr19

Muscular Dystrophy Limb-Girdle Type 2t

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Gmppb-Related

Muscular Dystrophy, Limb-Girdle, Type 2t

Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Gmppb-Related

Muscular Dystrophy-Dystroglycanopathy Type C14

Gmppb-Related Limb-Girdle Muscular Dystrophy R19

Gmppb-Related Lgmd R19

Lgmd Type 2t

Limb-Girdle Muscular Dystrophy Type 2t

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C14

Dystrophy, Muscular, Limb-Girdle, Type 2t

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

Lgmd2g

Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency

Muscular Dystrophy, Limb-Girdle, Type 2g

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w

Lgmd2w

Muscular Dystrophy, Limb-Girdle, Type 2w

Muscular Dystrophy-Dystroglycanopathy , Type C, 5

Lgmd2i

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i

MDDGC5

Limb-Girdle Muscular Dystrophy Due To Fkrp Deficiency

Limb-Girdle Muscular Dystrophy Type 2i

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9

Lgmdr9

Muscular Dystrophy, Limb-Girdle, Type 2i

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related

Fkrp-Related Limb-Girdle Muscular Dystrophy R9

Fkrp-Related Lgmd R9

Lgmd Due To Fkrp Deficiency

Lgmd Type 2i

Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related

Muscular Dystrophy Limb-Girdle Type 2i

Muscular Dystrophy-Dystroglycanopathy Type C 5

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5

Dystrophy, Muscular, Limb-Girdle, Type 2i

Muscular Dystrophy, Becker Type

Becker Muscular Dystrophy

BMD

Benign Pseudohypertrophic Muscular Dystrophy

Benign Congenital Myopathy

Becker Dystrophinopathy

Becker'S Muscular Dystrophy

Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type

Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type

Muscular Dystrophy Becker

Dystrophy, Muscular, Becker Type

Dystrophinopathy

Becker Dystrophy

Becker Type Dystrophy

Bmd - [Becker Muscular Dystrophy]

Autosomal Dominant Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant

Miyoshi Muscular Dystrophy 3

MMD3

Miyoshi Myopathy 3

Distal Anoctaminopathy

Miyoshi Muscular Dystrophy Type 3

Dystrophy, Muscular, Miyoshi, Type 3

Cardiomyopathy, Dilated, 3b

Dilated Cardiomyopathy 3b

CMD3B

X-Linked Dilated Cardiomyopathy

Xlcm

Dmd-Associated Dilated Cardiomyopathy

Cardiomyopathy, Dilated, X-Linked

Dmd-Related Dilated Cardiomyopathy

Xldc

Cardiomyopathy, Dilated, X-Linked 3b

Cardiomyopathy, Dilated, Type 3b

Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia

Arvc

Arvd

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Arvc Cardiomyopathy

Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia

Arvd/C

Right Ventricular Dysplasia, Arrhythmogenic

Ventricular Dysplasia, Right, Arrhythmogenic

Cardiomyopathy, Ventricular, Right, Arrhythmogenic

Dysplasia, Arrhythmogenic Right Ventricular

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h

Lgmd2h

Limb-Girdle Muscular Dystrophy Due To Trim32 Deficiency

Muscular Dystrophy Hutterite Type

Sarcotubular Myopathy

Limb-Girdle Muscular Dystrophy Type 2h

Myopathy With Extrapyramidal Signs

Proximal Myopathy With Extrapyramidal Signs

MPXPS

Myopathy, With Extrapyramidal Signs

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

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

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

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

EDMD2

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

Emd2

Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant

Scapuloilioperoneal Atrophy With Cardiopathy

Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant

Hauptmann-Thannhauser Muscular Dystrophy

Cardiomyopathy, Dilated, With Quadriceps Myopathy

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2

Muscular Dystrophy, Limb-Girdle, Type 1b

Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly

Lgmd1b, Formerly

Muscular Dystrophy, Proximal, Type 1b, Formerly

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

Lgmd1b

Limb-Girdle Muscular Dystrophy 1b

Muscular Dystrophy, Proximal, Type 1b

Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant

Muscle Tissue Disease
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

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]

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

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

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy

Left Ventricular Hypertrabeculation

Lvnc

Spongy Myocardium

Isolated Noncompaction Of The Ventricular Myocardium

Left Ventricular Myocardial Noncompaction Cardiomyopathy

Fetal Myocardium

Honeycomb Myocardium

Hypertrabeculation Syndrome

Left Ventricular Non-Compaction

Lvht

Non-Compaction Of The Left Ventricular Myocardium

Ventricular Noncompaction, Left

Non-Compaction Cardiomyopathy

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 SGCB VGNC VGNC:34536
Canis familiaris SGCB VGNC VGNC:46092
Mus musculus SGCB MGD MGI:1346523
Felis catus SGCB VGNC VGNC:65075
Rattus norvegicus SGCB RGD RGD:1594202