1. Gene
  2. TCAP - titin-cap Gene

TCAP - titin-cap Gene

中文名称:钛帽

种属: Homo sapiens

同用名: TELE; CMD1N; CMH25; T-cap; LGMD2G; LGMDR7; telethonin

基因 ID: 8557 | 基因类型: protein coding

关于 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).

功能概要

肌节组装受肌肉蛋白肌联蛋白调节。 Titin 是一种巨大的弹性蛋白,具有激酶活性,可延伸肌节长度的一半。它充当支架,肌原纤维和其他肌肉相关蛋白附着在其上。该基因编码一种在横纹肌和心肌中发现的蛋白质,该蛋白质与肌联蛋白 Z1-Z2 结构域结合,是肌联蛋白激酶的底物,这种相互作用被认为对肌节组装至关重要。该基因的突变与 2G 型肢带型肌营养不良症有关。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_003673.4 NP_003664.1 telethonin
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables BMP binding IPI
IPI: 通过物理相互作用推断
17921333 GOA
enables FATZ binding IPI
IPI: 通过物理相互作用推断
15582318 GOA
enables molecular adaptor activity EXP
EXP: 通过实验结果推断
16713295 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10984498 GOA
enables protein-macromolecule adaptor activity IDA
IDA: 通过直接分析推断
15582318 GOA
enables structural constituent of muscle IMP
IMP: 通过突变表型推断
9817758 GOA
enables titin Z domain binding IPI
IPI: 通过物理相互作用推断
11846417 GOA
enables titin binding IPI
IPI: 通过物理相互作用推断
9817758 GOA
enables transmembrane transporter binding IPI
IPI: 通过物理相互作用推断
11697903 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in adult heart development IMP
IMP: 通过突变表型推断
9817758 GOA
involved in cardiac muscle cell development IMP
IMP: 通过突变表型推断
9817758 GOA
involved in cardiac muscle contraction IMP
IMP: 通过突变表型推断
12507422 GOA
involved in cardiac muscle hypertrophy IMP
IMP: 通过突变表型推断
15582318 GOA
involved in cardiac muscle hypertrophy in response to stress IMP
IMP: 通过突变表型推断
12507422 GOA
involved in cardiac muscle tissue morphogenesis IMP
IMP: 通过突变表型推断
9817758 GOA
involved in cardiac myofibril assembly IMP
IMP: 通过突变表型推断
9817758 GOA
involved in detection of muscle stretch IMP
IMP: 通过突变表型推断
12507422 GOA
involved in sarcomere organization IMP
IMP: 通过突变表型推断
9817758 GOA
involved in sarcomerogenesis IMP
IMP: 通过突变表型推断
9817758 GOA
involved in skeletal muscle contraction IEP
IEP: 通过表达模式推断
9817758 GOA
involved in skeletal muscle myosin thick filament assembly IMP
IMP: 通过突变表型推断
9817758 GOA
involved in skeletal muscle thin filament assembly IMP
IMP: 通过突变表型推断
9817758 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Z disc IDA
IDA: 通过直接分析推断
9817758 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

TCAP 蛋白结构

Telethonin

Telethonin: Telethonin protein (1 - 167)

  • 0
  • 100
  • 167 a.a.
蛋白主名 其他名称

telethonin

19 kDa sarcomeric protein

TCAP 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra TCAP O15273 KRTAP19-7 Homo sapiens Q3SYF9
Y2H Prey Pooling
32296183
Intra TCAP O15273 KRTAP19-7 Homo sapiens Q3SYF9
Validated Y2H
32296183
Intra TCAP O15273 KRTAP19-7 Homo sapiens Q3SYF9
Y2H Array
32296183
Intra TCAP O15273 JPH3 Homo sapiens Q8WXH2
Y2H Pooling
32814053
Intra TCAP O15273 JPH3 Homo sapiens Q8WXH2
Validated Y2H
32814053
Intra TCAP O15273 JPH3 Homo sapiens Q8WXH2
Y2H Array
32814053
Intra TCAP O15273 ATN1 Homo sapiens Q86V38
Validated Y2H
32814053
Intra TCAP O15273 ATN1 Homo sapiens Q86V38
Y2H Pooling
32814053
Intra TCAP O15273 ATN1 Homo sapiens Q86V38
Y2H Array
32814053
Intra TCAP O15273 ACTMAP Homo sapiens Q5BKX5-3
Y2H Prey Pooling
32296183
Intra TCAP O15273 ACTMAP Homo sapiens Q5BKX5-3
Validated Y2H
32296183
Intra TCAP O15273 ACTMAP Homo sapiens Q5BKX5-3
Y2H Array
32296183
Intra TCAP O15273 FAM153B Homo sapiens P0C7A2-2
Y2H Prey Pooling
32296183
Intra TCAP O15273 FAM153B Homo sapiens P0C7A2-2
Validated Y2H
32296183
Intra TCAP O15273 FAM153B Homo sapiens P0C7A2-2
Y2H Array
32296183
Intra TCAP O15273 SAPCD1 Homo sapiens Q5SSQ6-2
Y2H Prey Pooling
32296183
Intra TCAP O15273 SAPCD1 Homo sapiens Q5SSQ6-2
Validated Y2H
32296183
Intra TCAP O15273 SAPCD1 Homo sapiens Q5SSQ6-2
Y2H Array
32296183
Intra TCAP O15273 CDCA4 Homo sapiens Q9BXL8
Y2H Prey Pooling
32296183
Intra TCAP O15273 CDCA4 Homo sapiens Q9BXL8
Validated Y2H
32296183
Intra TCAP O15273 CDCA4 Homo sapiens Q9BXL8
Y2H Array
32296183
Intra TCAP O15273 BLZF1 Homo sapiens Q9H2G9
Y2H Prey Pooling
32296183
Intra TCAP O15273 BLZF1 Homo sapiens Q9H2G9
Validated Y2H
32296183
Intra TCAP O15273 BLZF1 Homo sapiens Q9H2G9
Y2H Array
32296183
Intra TCAP O15273 F13A1 Homo sapiens P00488
Y2H Pooling
32814053
Intra TCAP O15273 F13A1 Homo sapiens P00488
Validated Y2H
32814053
Intra TCAP O15273 F13A1 Homo sapiens P00488
Y2H Array
32814053
Intra TCAP O15273 q9y649_human Homo sapiens Q9Y649
Y2H Array
32814053
Intra TCAP O15273 q9y649_human Homo sapiens Q9Y649
Y2H Pooling
32814053
Intra TCAP O15273 q9y649_human Homo sapiens Q9Y649
Validated Y2H
32814053
Intra TCAP O15273 GIPC1 Homo sapiens O14908-2
Y2H Array
32814053
Intra TCAP O15273 GIPC1 Homo sapiens O14908-2
Y2H Pooling
32814053
Intra TCAP O15273 GIPC1 Homo sapiens O14908-2
Validated Y2H
32814053
Intra TCAP O15273 FGFR3 Homo sapiens P22607
Validated Y2H
32814053
Intra TCAP O15273 FGFR3 Homo sapiens P22607
Y2H Array
32814053
Intra TCAP O15273 FGFR3 Homo sapiens P22607
Y2H Pooling
32814053
Intra TCAP O15273 GSN Homo sapiens P06396
Y2H Array
32814053
Intra TCAP O15273 GSN Homo sapiens P06396
Y2H Pooling
32814053
Intra TCAP O15273 GSN Homo sapiens P06396
Validated Y2H
32814053
Intra TCAP O15273 HSPA8 Homo sapiens P11142
Anti Tag CoIP
28514442
Intra TCAP O15273 HSPA8 Homo sapiens P11142
Y2H Fragment Pooling
23414517
Intra TCAP O15273 HSPA8 Homo sapiens P11142
Anti Tag CoIP
33961781
Intra TCAP O15273 VIM Homo sapiens P08670
Validated Y2H
32814053
Intra TCAP O15273 VIM Homo sapiens P08670
Y2H Pooling
32814053
Intra TCAP O15273 VIM Homo sapiens P08670
Y2H Array
32814053
Intra TCAP O15273 TRAF2 Homo sapiens Q12933
Y2H Array
32296183
Intra TCAP O15273 TRAF2 Homo sapiens Q12933
Validated Y2H
32296183
Intra TCAP O15273 TRAF2 Homo sapiens Q12933
Y2H Prey Pooling
32296183
Intra TCAP O15273 ASB6 Homo sapiens Q9NWX5
Validated Y2H
32296183
Intra TCAP O15273 ASB6 Homo sapiens Q9NWX5
Y2H Array
32296183
Intra TCAP O15273 ASB6 Homo sapiens Q9NWX5
Y2H Prey Pooling
32296183
Intra TCAP O15273 TTN Homo sapiens Q8WZ42
Y2H
11846417
Intra TCAP O15273 TTN Homo sapiens Q8WZ42
Y2H Fragment Pooling
23414517
Intra TCAP O15273 TTN Homo sapiens Q8WZ42
Y2H
15582318
Intra TCAP O15273 LAMTOR5 Homo sapiens O43504
Y2H Prey Pooling
32296183
Intra TCAP O15273 LAMTOR5 Homo sapiens O43504
Y2H Fragment Pooling
23414517
Intra TCAP O15273 LAMTOR5 Homo sapiens O43504
Y2H Array
32296183
Intra TCAP O15273 PECAM1 Homo sapiens P16284
Validated Y2H
32814053
Intra TCAP O15273 PECAM1 Homo sapiens P16284
Y2H Pooling
32814053
Intra TCAP O15273 PECAM1 Homo sapiens P16284
Y2H Array
32814053
Intra TCAP O15273 PLEKHF2 Homo sapiens Q9H8W4
Y2H Prey Pooling
32296183
Intra TCAP O15273 PLEKHF2 Homo sapiens Q9H8W4
Validated Y2H
32296183
Intra TCAP O15273 PLEKHF2 Homo sapiens Q9H8W4
Y2H Array
32296183
Intra TCAP O15273 GFAP Homo sapiens P14136
Y2H Pooling
32814053
Intra TCAP O15273 GFAP Homo sapiens P14136
Validated Y2H
32814053
Intra TCAP O15273 GFAP Homo sapiens P14136
Y2H Array
32814053
Intra TCAP O15273 MYOZ2 Homo sapiens Q9NPC6
Pull Down
15582318
Intra TCAP O15273 IKZF3 Homo sapiens Q9UKT9
Y2H Prey Pooling
32296183
Intra TCAP O15273 IKZF3 Homo sapiens Q9UKT9
Validated Y2H
32296183
Intra TCAP O15273 IKZF3 Homo sapiens Q9UKT9
Y2H Array
32296183
Intra TCAP O15273 CBX5 Homo sapiens P45973
Y2H Prey Pooling
32296183
Intra TCAP O15273 CBX5 Homo sapiens P45973
Validated Y2H
32296183
Intra TCAP O15273 CBX5 Homo sapiens P45973
Anti Tag CoIP
33961781
Intra TCAP O15273 CBX5 Homo sapiens P45973
Y2H Array
32296183
Intra TCAP O15273 CBX5 Homo sapiens P45973
Anti Tag CoIP
28514442
Intra TCAP O15273 ATXN1 Homo sapiens P54253
Validated Y2H
32814053
Intra TCAP O15273 ATXN1 Homo sapiens P54253
Y2H Pooling
32814053
Intra TCAP O15273 ATXN1 Homo sapiens P54253
Y2H Array
32814053
Intra TCAP O15273 ATXN1 Homo sapiens P54253
Y2H Fragment Pooling
23414517
Intra TCAP O15273 ATXN1 Homo sapiens P54253
Y2H Array
16713569
Intra TCAP O15273 TTC19 Homo sapiens Q6DKK2
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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