1. Gene
  2. NEB - nebulin Gene

NEB - nebulin Gene

中文名称:星云蛋白

种属: Homo sapiens

同用名: AMC6; NEM2; NEB177D

基因 ID: 4703 | 基因类型: protein coding

关于 NEB

Cytogenetic location: 2q23.3 Genomic coordinates (GRCh38): 2:151,485,339-151,734,476 (from NCBI)

This gene has 21 transcripts (splice variants), 244 orthologues, 4 paralogues and is associated with 9 phenotypes. Biased expression in prostate (RPKM 10.5), esophagus (RPKM 3.3) and 4 other tissues.

功能概要

该基因编码 nebulin,这是细胞骨架基质的一种巨大蛋白质成分,与骨骼肌肌节内的粗丝和细丝共存。在大多数脊椎动物中,nebulin 占肌原纤维蛋白总量的 3% 至 4%。编码的蛋白质包含大约 30 个氨基酸长的模块,可分为 7 种类型和其他重复模块。由于组织、物种和发育阶段特异性的可变剪接,蛋白质亚型大小从 600 到 800 kD 不等。在 nebulin 基因的 183 个外显子中,至少有 43 个被交替剪接,尽管外显子 143 和 144 不在同一转录本中。在针对 nebulin 预测的数千个转录本变体中,RefSeq 项目已决定创建三个具有代表性的 RefSeq 记录。该基因的突变与隐性线虫肌病有关。[RefSeq 提供,2009 年 9 月]

This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and Other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]

NEB 基因产物(4)

mRNA Protein Name
NM_001164507.2 NP_001157979.2 nebulin isoform 1
NM_001164508.2 NP_001157980.2 nebulin isoform 2
NM_001271208.2 NP_001258137.2 nebulin isoform 4
NM_004543.5 NP_004534.3 nebulin isoform 3
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
12482578 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
9501083 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

NEB 蛋白结构

Nebulin

Nebulin: Nebulin repeat (83 - 110)

Nebulin

Nebulin: Nebulin repeat (118 - 142)

Nebulin

Nebulin: Nebulin repeat (156 - 180)

Nebulin

Nebulin: Nebulin repeat (188 - 215)

Nebulin

Nebulin: Nebulin repeat (258 - 283)

Nebulin

Nebulin: Nebulin repeat (329 - 357)

Nebulin

Nebulin: Nebulin repeat (369 - 396)

Nebulin

Nebulin: Nebulin repeat (507 - 534)

Nebulin

Nebulin: Nebulin repeat (542 - 570)

Nebulin

Nebulin: Nebulin repeat (578 - 606)

Nebulin

Nebulin: Nebulin repeat (616 - 644)

Nebulin

Nebulin: Nebulin repeat (789 - 817)

Nebulin

Nebulin: Nebulin repeat (825 - 853)

Nebulin

Nebulin: Nebulin repeat (863 - 890)

Nebulin

Nebulin: Nebulin repeat (929 - 955)

Nebulin

Nebulin: Nebulin repeat (1069 - 1097)

Nebulin

Nebulin: Nebulin repeat (1107 - 1135)

Nebulin

Nebulin: Nebulin repeat (1173 - 1200)

Nebulin

Nebulin: Nebulin repeat (1242 - 1270)

Nebulin

Nebulin: Nebulin repeat (1277 - 1302)

Nebulin

Nebulin: Nebulin repeat (1313 - 1341)

Nebulin

Nebulin: Nebulin repeat (1351 - 1378)

Nebulin

Nebulin: Nebulin repeat (1523 - 1548)

Nebulin

Nebulin: Nebulin repeat (1557 - 1585)

Nebulin

Nebulin: Nebulin repeat (1595 - 1622)

Nebulin

Nebulin: Nebulin repeat (1765 - 1793)

Nebulin

Nebulin: Nebulin repeat (1801 - 1829)

Nebulin

Nebulin: Nebulin repeat (1839 - 1866)

Nebulin

Nebulin: Nebulin repeat (1905 - 1929)

Nebulin

Nebulin: Nebulin repeat (1974 - 2001)

Nebulin

Nebulin: Nebulin repeat (2009 - 2037)

Nebulin

Nebulin: Nebulin repeat (2045 - 2073)

Nebulin

Nebulin: Nebulin repeat (2083 - 2110)

Nebulin

Nebulin: Nebulin repeat (2218 - 2245)

Nebulin

Nebulin: Nebulin repeat (2253 - 2279)

Nebulin

Nebulin: Nebulin repeat (2289 - 2317)

Nebulin

Nebulin: Nebulin repeat (2327 - 2354)

Nebulin

Nebulin: Nebulin repeat (2394 - 2421)

Nebulin

Nebulin: Nebulin repeat (2461 - 2488)

Nebulin

Nebulin: Nebulin repeat (2496 - 2523)

Nebulin

Nebulin: Nebulin repeat (2532 - 2560)

Nebulin

Nebulin: Nebulin repeat (2570 - 2597)

Nebulin

Nebulin: Nebulin repeat (2639 - 2664)

Nebulin

Nebulin: Nebulin repeat (2704 - 2731)

Nebulin

Nebulin: Nebulin repeat (2739 - 2766)

Nebulin

Nebulin: Nebulin repeat (2775 - 2803)

Nebulin

Nebulin: Nebulin repeat (2813 - 2840)

Nebulin

Nebulin: Nebulin repeat (2882 - 2907)

Nebulin

Nebulin: Nebulin repeat (2947 - 2974)

Nebulin

Nebulin: Nebulin repeat (2982 - 3009)

Nebulin

Nebulin: Nebulin repeat (3018 - 3046)

Nebulin

Nebulin: Nebulin repeat (3056 - 3083)

Nebulin

Nebulin: Nebulin repeat (3190 - 3217)

Nebulin

Nebulin: Nebulin repeat (3225 - 3253)

Nebulin

Nebulin: Nebulin repeat (3261 - 3289)

Nebulin

Nebulin: Nebulin repeat (3299 - 3326)

Nebulin

Nebulin: Nebulin repeat (3366 - 3393)

Nebulin

Nebulin: Nebulin repeat (3433 - 3461)

Nebulin

Nebulin: Nebulin repeat (3468 - 3496)

Nebulin

Nebulin: Nebulin repeat (3504 - 3532)

Nebulin

Nebulin: Nebulin repeat (3542 - 3569)

Nebulin

Nebulin: Nebulin repeat (3676 - 3703)

Nebulin

Nebulin: Nebulin repeat (3711 - 3738)

Nebulin

Nebulin: Nebulin repeat (3747 - 3775)

Nebulin

Nebulin: Nebulin repeat (3785 - 3812)

Nebulin

Nebulin: Nebulin repeat (3852 - 3879)

Nebulin

Nebulin: Nebulin repeat (3919 - 3946)

Nebulin

Nebulin: Nebulin repeat (3954 - 3982)

Nebulin

Nebulin: Nebulin repeat (3989 - 4017)

Nebulin

Nebulin: Nebulin repeat (4095 - 4121)

Nebulin

Nebulin: Nebulin repeat (4161 - 4189)

Nebulin

Nebulin: Nebulin repeat (4231 - 4259)

Nebulin

Nebulin: Nebulin repeat (4269 - 4297)

Nebulin

Nebulin: Nebulin repeat (4337 - 4363)

Nebulin

Nebulin: Nebulin repeat (4405 - 4433)

Nebulin

Nebulin: Nebulin repeat (4440 - 4468)

Nebulin

Nebulin: Nebulin repeat (4479 - 4504)

Nebulin

Nebulin: Nebulin repeat (4582 - 4608)

Nebulin

Nebulin: Nebulin repeat (4615 - 4641)

Nebulin

Nebulin: Nebulin repeat (4650 - 4677)

Nebulin

Nebulin: Nebulin repeat (4723 - 4749)

Nebulin

Nebulin: Nebulin repeat (4860 - 4882)

Nebulin

Nebulin: Nebulin repeat (4966 - 4994)

Nebulin

Nebulin: Nebulin repeat (5037 - 5065)

Nebulin

Nebulin: Nebulin repeat (5073 - 5099)

Nebulin

Nebulin: Nebulin repeat (5107 - 5134)

Nebulin

Nebulin: Nebulin repeat (5247 - 5275)

Nebulin

Nebulin: Nebulin repeat (5317 - 5345)

Nebulin

Nebulin: Nebulin repeat (5352 - 5380)

Nebulin

Nebulin: Nebulin repeat (5387 - 5414)

Nebulin

Nebulin: Nebulin repeat (5422 - 5449)

Nebulin

Nebulin: Nebulin repeat (5457 - 5484)

Nebulin

Nebulin: Nebulin repeat (5493 - 5520)

Nebulin

Nebulin: Nebulin repeat (5633 - 5658)

Nebulin

Nebulin: Nebulin repeat (5670 - 5698)

Nebulin

Nebulin: Nebulin repeat (5741 - 5767)

Nebulin

Nebulin: Nebulin repeat (5777 - 5804)

Nebulin

Nebulin: Nebulin repeat (5883 - 5911)

Nebulin

Nebulin: Nebulin repeat (5918 - 5945)

Nebulin

Nebulin: Nebulin repeat (5956 - 5981)

Nebulin

Nebulin: Nebulin repeat (5992 - 6016)

Nebulin

Nebulin: Nebulin repeat (6030 - 6058)

Nebulin

Nebulin: Nebulin repeat (6065 - 6092)

Nebulin

Nebulin: Nebulin repeat (6100 - 6128)

Nebulin

Nebulin: Nebulin repeat (6135 - 6157)

Nebulin

Nebulin: Nebulin repeat (6167 - 6188)

Nebulin

Nebulin: Nebulin repeat (6229 - 6253)

Nebulin

Nebulin: Nebulin repeat (6260 - 6282)

Nebulin

Nebulin: Nebulin repeat (6291 - 6315)

Nebulin

Nebulin: Nebulin repeat (6322 - 6347)

Nebulin

Nebulin: Nebulin repeat (6353 - 6378)

Nebulin

Nebulin: Nebulin repeat (6384 - 6410)

Nebulin

Nebulin: Nebulin repeat (6419 - 6447)

SH3_9

SH3_9: Variant SH3 domain (6617 - 6667)

  • 0
  • 1100
  • 2200
  • 3300
  • 4400
  • 5500
  • 6669 a.a.
蛋白主名 其他名称

nebulin

nemaline myopathy type 2

NEB 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 NEB P20929 DYSF Homo sapiens O75923
Confocal
23414517
Intra NEB P20929 DYSF Homo sapiens O75923
PLA
23414517
Intra NEB P20929 SVIL Homo sapiens O95425
Y2H
18639526
Intra NEB P20929 SVIL Homo sapiens O95425
IF
18639526
Intra NEB P20929 SVIL Homo sapiens O95425
Pull Down
18639526
Intra NEB P20929 KLHL41 Homo sapiens O60662
PLA
23414517
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
Nemaline Myopathy 2

NEM2

Nemaline Myopathy 2, Autosomal Recessive

Nemaline Myopathy, Type 2

Neb-Related Nemaline Myopathy

Myopathy, Nemaline, Type 2

Arthrogryposis Multiplex Congenita 6

AMC6

Arthrogryposis Multiplex Congenita-6

Nemaline Myopathy

Rod Myopathy

Nemaline Body Disease

Nemaline Rod Myopathy

Myopathies, Nemaline

Nm

Nemaline Rod Disease

Rod Body Disease

Rod-Body Myopathy

Myopathy, Nemaline

Congenital Rod Disease

Nem

Nemaline Bodies

Myopathies Nemaline

Distal Nebulin Myopathy

Nebulin-Related Early-Onset Distal Myopathy

Intermediate Congenital Nemaline Myopathy

Intermediate Nemaline Myopathy

Intermediate Congenital Nm

Typical Congenital Nemaline Myopathy

Typical Nemaline Myopathy

Severe Congenital Nemaline Myopathy

Severe Congenital Nm

Childhood-Onset Nemaline Myopathy

Mild Nemaline Myopathy

Nemaline Myopathy, Childhood Onset

Multiple Pterygium Syndrome, Lethal Type

LMPS

Lethal Multiple Pterygium Syndrome

Pterygium Syndrome, Multiple, Lethal Type

Multiple Pterygium Syndrome Lethal Type

Pterygium Syndrome Multiple Lethal Type

Autosomal Recessive Lethal Multiple Pterygium Syndrome

Myopathy

Muscular Diseases

Myopathies

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

Congenital Structural Myopathy
Batten-Turner Congenital Myopathy

Congenital Myopathy

Batten Turner Congenital Myopathy

Myopathy Congenital

Myopathy, Congenital

Myotonia Congenita

Benign Congenital Myopathy

Central Core Disease Of Muscle

Central Core Disease

Central Core Myopathy

CCD

Cco

Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber

Myopathy, Central Core

Shy-Magee Syndrome

Muscle Core Disease

Muscular Central Core Disease

Myopathy, Central Fibrillar

Shy'S Disease

Moderate Multiminicore Disease With Hand Involvement

Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Myositis

Idiopathic Inflammatory Myopathy

Idiopathic Inflammatory Myositis

Iim

Imm

Idiopathic Inflammatory Myopathies

Myopathy, Familial Idiopathic Inflammatory

Inflammatory Disorder Of Muscle

Idiopathic Inflammatory Myopathy, Familial

Inflammatory Myopathy, Idiopathic

Myopathies Idiopathic Inflammatory

Familial Idiopathic Inflammatory Myopathy

Hyaline Body Myopathy

Myosin Storage Myopathy

Autosomal Dominant Hyaline Body Myopathy

Myopathy, Myosin Storage

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

Myopathy, Myofibrillar, 4

Myofibrillar Myopathy 4

MFM4

Zaspopathy

Myopathy, Myofibrillar, Zasp-Related

Multiple Pterygium Syndrome, Escobar Variant

Multiple Pterygium Syndrome

Pterygium

Escobar Syndrome

EVMPS

Pterygium Syndrome

Autosomal Recessive Multiple Pterygium Syndrome

Pterygium Colli Syndrome

Pterygium Universale

Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome

Escobar Variant Multiple Pterygium Syndrome

Multiple Pterygium Syndrome, Nonlethal Type

Surfer'S Eye

Multiple Pterygium Syndrome Escobar Type

Multiple Pterygium Syndrome Nonlethal Type

Familial Pterygium Syndrome

Pterygium Colli

Multiple Pterygium Syndrome, Non-Lethal Type

Nonlethal Type Multiple Pterygium Syndrome

Pterygium Syndrome, Multiple, Escobar Type

Pterygium Of Eye

Web Eye

Nemaline Myopathy 5

Amish Nemaline Myopathy

NEM5

Anm

Nemaline Myopathy, Amish Type

Nemaline Myopathy 5, Amish Type

Nemaline Myopathy, Caused By Mutation In The Troponin T1 Gene

Nemaline Myopathy, Type 5

Nemaline Myopathy Amish Type

Tnnt1-Related Nemaline Myopathy

Myopathy, Nemaline, Type 5

Congenital Fiber-Type Disproportion

Congenital Fiber Type Disproportion

Cftdm

Congenital Myopathy With Fiber Type Disproportion

Cftd

Congenital Fiber-Type Disproportion Myopathy

Fiber-Type Disproportion Myopathy, Congenital

Myopathy, Congenital With Fiber-Type Disproportion

Myopathy, Spheroid Body

Spheroid Body Myopathy

Autosomal Dominant Spheroid Body Myopathy

SBM

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Jacobs Syndrome

Arthropathy-Camptodactyly Syndrome

Pericarditis-Arthropathy-Camptodactyly Syndrome

Xyy Syndrome

Pac Syndrome

Cacp Syndrome

CACP

Fibrosing Serositis, Familial

Camptodactyly-Arthropathy-Pericarditis Syndrome

Cap Syndrome

47, Xyy Syndrome

47,Xyy Syndrome

Double Y Syndrome

Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome

Hypertrophic Synovitis, Congenital Familial

Congenital Familial Hypertrophic Synovitis

Xyy Karyotype

Y Disomy

Yy Syndrome

Familial Fibrosing Serositis

Disomy Y

Double Y

Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome

Arthropathy Camptodactyly Syndrome

Camptodactyly Arthropathy Pericarditis Syndrome

Pericarditis Arthropathy Camptodactyly Syndrome

Jacob'S Syndrome

47,Xyy

Cdags Syndrome

Nemaline Myopathy 8

NEM8

Nemaline Myopathy 8, Autosomal Recessive

Myopathy, Nemaline, Type 8

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

Haverhill Fever

Streptobacillosis

Streptobacillary Rat-Bite Fever

Streptobacillary Fever

Rat-Bite Fever Due To Streptobacillus Moniliformis

Erythema Arthriticum Epidemicum

Epidemic Arthritic Erythema

Noonan Syndrome 2

NS2

Noonan Syndrome, Autosomal Recessive

Noonan Syndrome 2, Autosomal Recessive

Noonan Syndrome, Type 2

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

Myopathy, Myofibrillar, 1

Desmin-Related Myofibrillar Myopathy

Desmin-Related Myopathy

MFM1

Myopathy, Myofibrillar, Desmin-Related

Drm

Myofibrillar Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy

Desmin-Related Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy

Myofibrillar Myopathy 1

Desminopathy

Muscular Dystrophy, Limb-Girdle, Type 2r

Arrhythmogenic Right Ventricular Dysplasia, Familial, 7

Desminopathy, Primary

Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly

Arvd7, Formerly

Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly

Arvc7, Formerly

Inclusion Body Myopathy 1, Autosomal Dominant, Formerly

Ibm1, Formerly

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

Cmd1f And Lgmd1d, Formerly

Cardiomyopathy, Dilated, With Conduction Defect And Muscular Dystrophy

Cdcd3, Formerly

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

Lgmd2r, Formerly

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r

Arrhythmogenic Right Ventricular Cardiomyopathy 7

Arvc7

Arvd7

Autosomal Dominant Inclusion Body Myopathy 1

Cdcd3

Cmd1f And Lgmd1d

Desminopathy Primary

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

Dilated Cardiomyopathy With Conduction Defect And Muscular Dystrophy

Familial Arrhythmogenic Right Ventricular Dysplasia 7

Lgmd2r

Limb-Girdle Muscular Dystrophy 2r

Mfm Desmin-Related

Myopathy Myofibrillar Desmin-Related

Dystrophy, Muscular, Limb-Girdle, Type 2r

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]

Endocardial Fibroelastosis

Endomyocardial Fibroelastosis

Elastomyofibrosis

EFE

Efe - [Endocardial Fibroelastosis]

Primary Endocardial Fibroelastosis

Fibroelastosis Cordis

Fetal Endocarditis

Fibroelastosis

Congenital Endocardial Fibroelastosis

Congenital Valvular Endocarditis

Myopathy, Distal, 1

Laing Distal Myopathy

Laing Early-Onset Distal Myopathy

MPD1

Distal Myopathy 1

Myopathy, Distal, Early-Onset, Autosomal Dominant

Distal Myopathy Type 1

Gowers Disease

Myopathy, Late Distal Hereditary

Myopathy Distal, Type 1

Myopathy Distal Early-Onset Autosomal Dominant

Myopathy Late Distal Hereditary

Myopathy, Distal, Type 1

Welander Distal Myopathy

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]

Multiminicore Disease

Multiminicore Myopathy

Mmd

Minicore Disease

Minicore Myopathy

Multi-Core Congenital Myopathy

Multi-Core Disease

Multi-Minicore Disease

Multicore Disease

Multicore Myopathy

Minicore Myopathy With External Ophthalmoplegia

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

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j

Lgmd2j

Muscular Dystrophy, Limb-Girdle, Type 2j

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

Centronuclear Myopathy

Myopathy, Centronuclear

Myotubular Myopathy

Cnm

Myopathy, Myotubular

Congenital Structural Myopathy

Muscle Tissue Disease
Myopathy, Centronuclear, X-Linked

X-Linked Myotubular Myopathy

Xlmtm

X-Linked Centronuclear Myopathy

Xlcnm

CNMX

Mtm1

Myotubular Myopathy, X-Linked

Mtmx

Myotubular Myopathy 1

Centronuclear Myopathy X-Linked

Myotubular Myopathy

Mtm

Cnm

Xmtm

Myotubular Myopathy Type 1

Rigid Spine Muscular Dystrophy 1

Rigid Spine Syndrome

RSMD1

Rss

Mdrs1

Eichsfeld Type Congenital Muscular Dystrophy

Desmin-Related Myopathy With Mallory Bodies

Classic Multiminicore Myopathy

Sepn1-Related Myopathy

Multicore Myopathy, Severe Classic Form

Minicore Myopathy, Severe Classic Form

Multiminicore Disease, Severe Classic Form

Muscular Dystrophy, Rigid Spine, 1

Classic Mmd

Classic Multiminicore Disease

Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity

Desmin-Related Myopathy With Mallory Body-Like Inclusions

Early-Onset Desmin-Related Myopathy

Myopathy, Sepn1-Related

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

Muscular Dystrophy, Congenital, Eichsfeld Type

Severe Classic Form Minicore Myopathy

Severe Classic Form Multicore Myopathy

Severe Classic Form Multiminicore Disease

Desmin-Related Myopathies With Mallory Bodies

Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity

Rigid Spine Muscular Dystrophy-1

Rigid Spine Congenital Muscular Dystrophy

Congenital Muscular Dystrophy Eichsfeld Type

Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity

Minicore Myopathy Severe Classic Form

Multicore Myopathy Severe Classic Form

Multiminicore Disease Severe Classic Form

Dystrophy, Muscular, Rigid Spine, Type 1

Muscular Disease
Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

Physical Disorder

Physical Illness

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

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

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

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

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

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

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
Bos taurus NEB VGNC VGNC:31977
Rattus norvegicus NEB RGD RGD:1311134
Mus musculus NEB MGD MGI:97292
Others NEB NCBI