SGCB - sarcoglycan beta Gene

Also Known as A3b; SGC; LGMD2E; LGMDR4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6443

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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
Cellular Component GO Annotation Evidence References 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 References
Intra
SGCB Q16585 MGST2 Homo sapiens Q99735 32296183
Intra
SGCB Q16585 CMTM5 Homo sapiens Q96DZ9-2 32296183
Intra
SGCB Q16585 CLEC7A Homo sapiens Q9BXN2-6 32296183
Intra
SGCB Q16585 BRICD5 Homo sapiens Q6PL45-2 32296183
Intra
SGCB Q16585 SLC52A1 Homo sapiens Q9NWF4 32296183
Intra
SGCB Q16585 NINJ1 Homo sapiens Q92982 32296183
Intra
SGCB Q16585 SMIM3 Homo sapiens Q9BZL3 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

SGCB Antibodies

Cat. No. Product Name Application Reactivity
HY-P810228 β-sarcoglycan Antibody (YA9572) WB, ICC/IF, IF-Tissue, IHC-P, IP, ELISA human, mouse, rat
HY-P810926 Beta-sarcoglycan Antibody WB, ICC/IF Human, Mouse, Rat

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
Others SGCB NCBI