TCAP - titin-cap Gene

Also Known as TELE; CMD1N; CMH25; T-cap; LGMD2G; LGMDR7; telethonin

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8557

About TCAP

Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:39,665,349-39,666,554 (from NCBI)

This gene has 2 transcripts (splice variants), 194 orthologues and is associated with 5 phenotypes. Restricted expression toward heart (RPKM 1072.6).

Summary

Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and Other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008]

TCAP Products (1)

mRNA Protein Name
NM_003673.4 NP_003664.1 telethonin
Molecular Function GO Annotation Evidence References Source
enables BMP binding IPI
IPI: Inferred from physical interaction
17921333 GOA
enables FATZ binding IPI
IPI: Inferred from physical interaction
15582318 GOA
enables molecular adaptor activity EXP
EXP: Inferred from Experiment
16713295 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10984498 GOA
enables protein-macromolecule adaptor activity IDA
IDA: Inferred from direct assay
15582318 GOA
enables structural constituent of muscle IMP
IMP: Inferred from mutant phenotype
9817758 GOA
enables titin Z domain binding IPI
IPI: Inferred from physical interaction
11846417 GOA
enables titin binding IPI
IPI: Inferred from physical interaction
9817758 GOA
enables transmembrane transporter binding IPI
IPI: Inferred from physical interaction
11697903 GOA
Biological Process GO Annotation Evidence References Source
involved in adult heart development IMP
IMP: Inferred from mutant phenotype
9817758 GOA
involved in cardiac muscle cell development IMP
IMP: Inferred from mutant phenotype
9817758 GOA
involved in cardiac muscle contraction IMP
IMP: Inferred from mutant phenotype
12507422 GOA
involved in cardiac muscle hypertrophy IMP
IMP: Inferred from mutant phenotype
15582318 GOA
involved in cardiac muscle hypertrophy in response to stress IMP
IMP: Inferred from mutant phenotype
12507422 GOA
involved in cardiac muscle tissue morphogenesis IMP
IMP: Inferred from mutant phenotype
9817758 GOA
involved in cardiac myofibril assembly IMP
IMP: Inferred from mutant phenotype
9817758 GOA
involved in detection of muscle stretch IMP
IMP: Inferred from mutant phenotype
12507422 GOA
involved in sarcomere organization IMP
IMP: Inferred from mutant phenotype
9817758 GOA
involved in sarcomerogenesis IMP
IMP: Inferred from mutant phenotype
9817758 GOA
involved in skeletal muscle contraction IEP
IEP: Inferred from expression pattern
9817758 GOA
involved in skeletal muscle myosin thick filament assembly IMP
IMP: Inferred from mutant phenotype
9817758 GOA
involved in skeletal muscle thin filament assembly IMP
IMP: Inferred from mutant phenotype
9817758 GOA
Cellular Component GO Annotation Evidence References Source
located in Z disc IDA
IDA: Inferred from direct assay
9817758 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

TCAP Protein Structure

Telethonin

Telethonin: Telethonin protein (1 - 167)

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

telethonin

  • 19 kDa sarcomeric protein

TCAP Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TCAP O15273 KRTAP19-7 Homo sapiens Q3SYF9 32296183
Intra
TCAP O15273 KRTAP19-7 Homo sapiens Q3SYF9 32296183
Intra
TCAP O15273 KRTAP19-7 Homo sapiens Q3SYF9 32296183
Intra
TCAP O15273 JPH3 Homo sapiens Q8WXH2 32814053
Intra
TCAP O15273 JPH3 Homo sapiens Q8WXH2 32814053
Intra
TCAP O15273 JPH3 Homo sapiens Q8WXH2 32814053
Intra
TCAP O15273 ATN1 Homo sapiens Q86V38 32814053
Intra
TCAP O15273 ATN1 Homo sapiens Q86V38 32814053
Intra
TCAP O15273 ATN1 Homo sapiens Q86V38 32814053
Intra
TCAP O15273 ACTMAP Homo sapiens Q5BKX5-3 32296183
Intra
TCAP O15273 ACTMAP Homo sapiens Q5BKX5-3 32296183
Intra
TCAP O15273 ACTMAP Homo sapiens Q5BKX5-3 32296183
Intra
TCAP O15273 FAM153B Homo sapiens P0C7A2-2 32296183
Intra
TCAP O15273 FAM153B Homo sapiens P0C7A2-2 32296183
Intra
TCAP O15273 FAM153B Homo sapiens P0C7A2-2 32296183
Intra
TCAP O15273 SAPCD1 Homo sapiens Q5SSQ6-2 32296183
Intra
TCAP O15273 SAPCD1 Homo sapiens Q5SSQ6-2 32296183
Intra
TCAP O15273 SAPCD1 Homo sapiens Q5SSQ6-2 32296183
Intra
TCAP O15273 CDCA4 Homo sapiens Q9BXL8 32296183
Intra
TCAP O15273 CDCA4 Homo sapiens Q9BXL8 32296183
Intra
TCAP O15273 CDCA4 Homo sapiens Q9BXL8 32296183
Intra
TCAP O15273 BLZF1 Homo sapiens Q9H2G9 32296183
Intra
TCAP O15273 BLZF1 Homo sapiens Q9H2G9 32296183
Intra
TCAP O15273 BLZF1 Homo sapiens Q9H2G9 32296183
Intra
TCAP O15273 F13A1 Homo sapiens P00488 32814053
Intra
TCAP O15273 F13A1 Homo sapiens P00488 32814053
Intra
TCAP O15273 F13A1 Homo sapiens P00488 32814053
Intra
TCAP O15273 q9y649_human Homo sapiens Q9Y649 32814053
Intra
TCAP O15273 q9y649_human Homo sapiens Q9Y649 32814053
Intra
TCAP O15273 q9y649_human Homo sapiens Q9Y649 32814053
Intra
TCAP O15273 GIPC1 Homo sapiens O14908-2 32814053
Intra
TCAP O15273 GIPC1 Homo sapiens O14908-2 32814053
Intra
TCAP O15273 GIPC1 Homo sapiens O14908-2 32814053
Intra
TCAP O15273 FGFR3 Homo sapiens P22607 32814053
Intra
TCAP O15273 FGFR3 Homo sapiens P22607 32814053
Intra
TCAP O15273 FGFR3 Homo sapiens P22607 32814053
Intra
TCAP O15273 GSN Homo sapiens P06396 32814053
Intra
TCAP O15273 GSN Homo sapiens P06396 32814053
Intra
TCAP O15273 GSN Homo sapiens P06396 32814053
Intra
TCAP O15273 HSPA8 Homo sapiens P11142 28514442
Intra
TCAP O15273 HSPA8 Homo sapiens P11142 23414517
Intra
TCAP O15273 HSPA8 Homo sapiens P11142 33961781
Intra
TCAP O15273 VIM Homo sapiens P08670 32814053
Intra
TCAP O15273 VIM Homo sapiens P08670 32814053
Intra
TCAP O15273 VIM Homo sapiens P08670 32814053
Intra
TCAP O15273 TRAF2 Homo sapiens Q12933 32296183
Intra
TCAP O15273 TRAF2 Homo sapiens Q12933 32296183
Intra
TCAP O15273 TRAF2 Homo sapiens Q12933 32296183
Intra
TCAP O15273 ASB6 Homo sapiens Q9NWX5 32296183
Intra
TCAP O15273 ASB6 Homo sapiens Q9NWX5 32296183
Intra
TCAP O15273 ASB6 Homo sapiens Q9NWX5 32296183
Intra
TCAP O15273 TTN Homo sapiens Q8WZ42
Y2H
11846417
Intra
TCAP O15273 TTN Homo sapiens Q8WZ42 23414517
Intra
TCAP O15273 TTN Homo sapiens Q8WZ42
Y2H
15582318
Intra
TCAP O15273 LAMTOR5 Homo sapiens O43504 32296183
Intra
TCAP O15273 LAMTOR5 Homo sapiens O43504 23414517
Intra
TCAP O15273 LAMTOR5 Homo sapiens O43504 32296183
Intra
TCAP O15273 PECAM1 Homo sapiens P16284 32814053
Intra
TCAP O15273 PECAM1 Homo sapiens P16284 32814053
Intra
TCAP O15273 PECAM1 Homo sapiens P16284 32814053
Intra
TCAP O15273 PLEKHF2 Homo sapiens Q9H8W4 32296183
Intra
TCAP O15273 PLEKHF2 Homo sapiens Q9H8W4 32296183
Intra
TCAP O15273 PLEKHF2 Homo sapiens Q9H8W4 32296183
Intra
TCAP O15273 GFAP Homo sapiens P14136 32814053
Intra
TCAP O15273 GFAP Homo sapiens P14136 32814053
Intra
TCAP O15273 GFAP Homo sapiens P14136 32814053
Intra
TCAP O15273 MYOZ2 Homo sapiens Q9NPC6 15582318
Intra
TCAP O15273 IKZF3 Homo sapiens Q9UKT9 32296183
Intra
TCAP O15273 IKZF3 Homo sapiens Q9UKT9 32296183
Intra
TCAP O15273 IKZF3 Homo sapiens Q9UKT9 32296183
Intra
TCAP O15273 CBX5 Homo sapiens P45973 32296183
Intra
TCAP O15273 CBX5 Homo sapiens P45973 32296183
Intra
TCAP O15273 CBX5 Homo sapiens P45973 33961781
Intra
TCAP O15273 CBX5 Homo sapiens P45973 32296183
Intra
TCAP O15273 CBX5 Homo sapiens P45973 28514442
Intra
TCAP O15273 ATXN1 Homo sapiens P54253 32814053
Intra
TCAP O15273 ATXN1 Homo sapiens P54253 32814053
Intra
TCAP O15273 ATXN1 Homo sapiens P54253 32814053
Intra
TCAP O15273 ATXN1 Homo sapiens P54253 23414517
Intra
TCAP O15273 ATXN1 Homo sapiens P54253 16713569
Intra
TCAP O15273 TTC19 Homo sapiens Q6DKK2 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Cardiomyopathy, Familial Hypertrophic, 25
  • Hypertrophic Cardiomyopathy 25

  • CMH25

  • Cardiomyopathy, Hypertrophic, 25

  • Cardiomyopathy Familial Hypertrophic 25

  • Cardiomyopathy, Familial Hypertrophic 25

  • Cardiomyopathy, Hypertrophic, Type 25

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
  • Muscular Dystrophy, Limb-Girdle, Type 2g

  • Lgmd2g

  • LGMDR7

  • Limb-Girdle Muscular Dystrophy, Type 2g

  • Telethonin-Related Limb-Girdle Muscular Dystrophy R7

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

  • Lgmd Due To Telethonin Deficiency

  • Lgmd Type 2g

  • Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency

  • Limb-Girdle Muscular Dystrophy Type 2g

  • Telethonin-Related Lgmd R7

  • Limb-Girdle Muscular Dystrophy 2g

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

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g
  • Lgmd2g

  • Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency

  • Muscular Dystrophy, Limb-Girdle, Type 2g

Creatine Phosphokinase, Elevated Serum
  • Hyperckemia, Idiopathic

  • Cpk, Elevated Serum

  • Hyperckmia

  • HYPCK

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

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

Familial Isolated Dilated Cardiomyopathy
  • Familial Or Idiopathic Dilated Cardiomyopathy

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

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

Hypertrophic Cardiomyopathy
  • Hypertrophic Obstructive Cardiomyopathy

  • Cardiomyopathy, Hypertrophic

  • Cardiomyopathy Hypertrophic Obstructive

  • Cardiomyopathy, Hypertrophic, Familial

  • Idiopathic Myocardial Hypertrophy

  • Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Cardiomyopathy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Muscular Subaortic Stenosis

  • Hypertrophic Obstructive Subaortic Stenosis

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, Limb-Girdle, Autosomal Recessive 8
  • Sarcotubular Myopathy

  • Lgmd2h

  • Muscular Dystrophy, Limb-Girdle, Type 2h

  • Limb-Girdle Muscular Dystrophy Type 2h

  • LGMDR8

  • Muscular Dystrophy Hutterite Type

  • Muscular Dystrophy, Hutterite Type

  • Muscular Dystrophy Limb-Girdle Type 2h

  • Trim32-Related Limb-Girdle Muscular Dystrophy R8

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h

  • Lgmd Due To Trim32 Deficiency

  • Lgmd Type 2h

  • Limb-Girdle Muscular Dystrophy Due To Trim32 Deficiency

  • Trim32-Related Lgmd R8

  • Limb-Girdle Muscular Dystrophy 2h

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

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

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

Autosomal Recessive Limb-Girdle Muscular Dystrophy
  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Limb-Girdle Muscular Dystrophy Type 1a
  • Lgmd1a

  • Lgmd1

  • Muscular Dystrophy, Proximal, Type 1a

  • Limb-Girdle Muscular Dystrophy, Type 1a

  • Dystrophy, Muscular, Limb-Girdle, Type 1a

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
  • Lgmd2j

  • Muscular Dystrophy, Limb-Girdle, Type 2j

Myopathy
  • Muscular Diseases

  • Myopathies

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Due To Plectin Deficiency

  • Lgmd2q

  • Muscular Dystrophy, Limb-Girdle, Type 2q

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

Myasthenic Syndrome, Congenital, 20, Presynaptic
  • Congenital Myasthenic Syndrome 20

  • CMS20

  • Congenital Myasthenic Syndrome 20 Presynaptic

  • Myasthenic Syndrome, Congenital, Type 20, Presynaptic

Tibial Muscular Dystrophy
  • Tmd

  • Udd Myopathy

  • Distal Titinopathy

  • Finnish Tibial Muscular Dystrophy

  • Tardive Tibial Muscular Dystrophy

  • Udd Type Distal Myopathy

  • Udd Distal Myopathy

  • Udd-Markesbery Muscular Dystrophy

  • Distal Myopathy, Udd Type

  • Distal Myopathies

  • Tibial Muscular Dystrophy, Tardive

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

Miyoshi Muscular Dystrophy
  • Distal Myopathy

  • Distal Muscular Dystrophy

  • Miyoshi Myopathy

  • Distal Myopathies

  • Dystrophy, Muscular, Miyoshi

  • Myopathy, Distal

  • Distal Muscular Dystrophies

Myopathy, Myofibrillar, 9, With Early Respiratory Failure
  • Hereditary Myopathy With Early Respiratory Failure

  • Hmerf

  • Myopathy, Proximal, With Early Respiratory Muscle Involvement

  • Edstrom Myopathy

  • Mfm-Titinopathy

  • MFM9

  • Mprm

  • Hereditary Inclusion Body Myopathy With Early Respiratory Failure

  • Hibm-Erf

  • Myofibrillar Myopathy-Titinopathy

  • Myofibrillar Myopathy With Early Respiratory Failure

  • Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant

  • Myofibrillar Myopathy 9

  • Myofibrillar Myopathy 9 With Early Respiratory Failure

  • Autosomal Dominant Distal Myopathy With Early Respiratory Failure

  • Proximal Myopathy With Early Respiratory Muscle Involvement

  • Hereditary Proximal Myopathy With Early Respiratory Failure

  • Admerf

  • Edström Myopathy

  • Hmerf-Erf

Myopathy, Myofibrillar, 3
  • Myotilinopathy

  • Myofibrillar Myopathy 3

  • MFM3

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a

  • Lgmd1a

  • Muscular Dystrophy, Limb-Girdle, Type 1a

  • Myopathy, Myofibrillar, Myotilin-Related

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

  • Lgmd1, Formerly

  • Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly

  • Lgmd1a, Formerly

  • Qualitative Or Quantitative Defects Of Myotilin

  • Limb-Girdle Muscular Dystrophy Due To Myotilin Deficiency

  • Distal Myotilinopathy

  • Lgmd1

  • Limb-Girdle Muscular Dystrophy 1a

  • Mfm Myotilin-Related

  • Muscular Dystrophy, Limb-Girdle, Type 1

  • Myopathy Myofibrillar Myotylin-Related

  • Myopathy, Myofibrillar, Type 3

Brugada Syndrome
  • Sudden Unexpected Nocturnal Death Syndrome

  • Sudden Unexplained Nocturnal Death Syndrome

  • Bangungut

  • Brugada Type Idiopathic Ventricular Fibrillation

  • Pokkuri Death Syndrome

  • Sunds

  • Idiopathic Ventricular Fibrillation, Brugada Type

  • Sudden Unexplained Death

  • Dream Disease

  • Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

  • Sudden Unexplained Death Syndrome

  • Suds

  • Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Cylindrical Spirals Myopathy
  • Myotonic Myopathy With Cylindrical Spirals

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

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

Myopathy, Spheroid Body
  • Spheroid Body Myopathy

  • Autosomal Dominant Spheroid Body Myopathy

  • SBM

Myopathy, Myofibrillar, 4
  • Myofibrillar Myopathy 4

  • MFM4

  • Zaspopathy

  • Myopathy, Myofibrillar, Zasp-Related

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

Cardiomyopathy, Dilated, 1m
  • Dilated Cardiomyopathy 1m

  • CMD1M

  • Cardiomyopathy, Dilated 1m

  • Cardiomyopathy, Dilated, Type 1m

Autosomal Dominant Limb-Girdle Muscular Dystrophy
  • Muscular Dystrophy, Limb-Girdle, Autosomal Dominant

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

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

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

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
  • Muscular Dystrophy, Limb-Girdle, Type 1e

  • Lgmd1d

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d

  • LGMDD1

  • Lgmd1e

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1

  • Limb-Girdle Muscular Dystrophy Type 1d

  • Muscular Dystrophy, Limb-Girdle, Type 1d

  • Muscular Dystrophy, Limb-Girdle, Type 1d, Formerly

  • Lgmd1d, Formerly

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e

  • Muscular Dystrophy Limb-Girdle Type 1d

  • Muscular Dystrophy Limb-Girdle Type 1e

  • Dnajb6-Related Limb-Girdle Muscular Dystrophy D1

  • Dnajb6-Related Lgmd D1

  • Lgmd Type 1d

  • Limb-Girdle Muscular Dystrophy 1e

  • Limb-Girdle Muscular Dystrophy-1d, Autosomal Dominant

  • Dystrophy, Muscular, Limb-Girdle, Autosomal Dominant, Type 1

  • Dystrophy, Muscular, Limb-Girdle, Type 1e

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]

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

Facioscapulohumeral Muscular Dystrophy 1
  • Facioscapulohumeral Muscular Dystrophy

  • Fshd

  • Landouzy-Dejerine Muscular Dystrophy

  • Muscular Dystrophy, Facioscapulohumeral

  • FSHD1

  • Fshd1a

  • Muscular Dystrophy, Facioscapulohumeral, Type 1a

  • Facioscapulohumeral Muscular Dystrophy Type 1a

  • Fsh Muscular Dystrophy

  • Facioscapulohumeral Muscular Dystrophy 1a

  • Facioscapulohumeral Atrophy

  • Facioscapulohumeral Myopathy

  • Muscular Dystrophy, Facioscapulohumeral, Type 1

  • Facioscapulohumeral Muscular Dystrophy Type 1

  • Landouzy Dejerine Muscular Dystrophy

  • Muscular Dystrophy, Landouzy-Dejerine

  • Fshmd1a

  • Facio-Scapulo-Humeral Dystrophy

  • Facioscapulohumeral Type Progressive Muscular Dystrophy

  • Facioscapuloperoneal Muscular Dystrophy

  • Facioscapulohumeral Dystrophy

  • Fsh Dystrophy

  • Landouzy-Dejerine Dystrophy

  • Landouzy-Dejerine Myopathy

  • Fmd

  • Facioscapulohumeral Muscular Dystrophy-1a

  • Muscular Dystrophy Facioscapulohumeral

  • Dystrophy, Muscular, Facioscapulohumeral

  • Dystrophy, Muscular, Facioscapulohumeral, Type 1

  • Landouzy-Dejerine Disease

  • Landouzy-Déjerine Atrophy

  • Facioscapulohumeral Muscle Dystrophy

  • Fmd - [Facioscapulohumeral Muscular Dystrophy]

  • Fsh - [Facioscapulohumeral Muscular Dystrophy]

  • Fshd - [Facioscapulohumeral Muscular Dystrophy]

  • Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy

  • Landouzy-Déjérine Muscular Dystrophy

Intestinal Pseudo-Obstruction
  • Chronic Intestinal Pseudoobstruction

  • Chronic Intestinal Pseudo-Obstruction

  • Cipo

  • Neuronal Intestinal Dysplasia

  • Hollow Visceral Myopathy

  • Familial Visceral Neuropathy

  • Paralytic Ileus

  • Intestinal Pseudoobstruction

  • Chronic Idiopathic Intestinal Pseudo-Obstruction

  • Ciip

  • Congenital Short Bowel Syndrome

  • Enteric Neuropathy

  • Familial Visceral Myopathy

  • Ipo

  • Pseudo-Obstruction Of Intestine

  • Pseudointestinal Obstruction Syndrome

  • Pseudoobstructive Syndrome

  • Congenital Idiopathic Intestinal Pseudoobstruction

  • Visceral Myopathy, Familial

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

Intrinsic Cardiomyopathy
Restrictive Cardiomyopathy
  • Familial Restrictive Cardiomyopathy

  • Cardiomyopathy, Restrictive

  • Cardiomyopathy, Constrictive

  • Primary Restrictive Cardiomyopathy

  • Rcm

  • Cardiomyopathy Restrictive

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]

Familial Atrial Fibrillation
  • Atrial Fibrillation, Familial

  • Atfb

  • Atrial Fibrillation Autosomal Dominant

  • Autosomal Dominant Atrial Fibrillation

  • Auricular Fibrillation

  • Atrial Fibrillation

  • Atrial Fibrillation, Familial, 1

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

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
Rattus norvegicus TCAP RGD RGD:1592387
Mus musculus TCAP MGD MGI:1330233
Canis familiaris TCAP VGNC VGNC:47181
Bos taurus TCAP VGNC VGNC:35678
Felis catus TCAP VGNC VGNC:66014
Others TCAP NCBI