1. Gene
  2. FLNC - filamin C Gene

FLNC - filamin C Gene

中文名称:细丝蛋白 C

种属: Homo sapiens

同用名: ABPA; ABPL; FLN2; MFM5; MPD4; RCM5; CMH26; ABP-280; ABP280A

基因 ID: 2318 | 基因类型: protein coding

关于 FLNC

Cytogenetic location: 7q32.1 Genomic coordinates (GRCh38): 7:128,830,406-128,859,272 (from NCBI)

This gene has 3 transcripts (splice variants), 269 orthologues, 36 paralogues and is associated with 9 phenotypes. Biased expression in heart (RPKM 81.4), prostate (RPKM 45.4) and 9 other tissues.

功能概要

该基因编码三个相关的细丝蛋白基因之一,特别是伽马细丝蛋白。这些细丝蛋白将肌动蛋白丝交联成皮质细胞质中的正交网络,并参与肌动蛋白细胞骨架膜蛋白的锚定。细丝蛋白中存在三个功能域:N 端丝状肌动蛋白结合域、C 端自缔合域和膜糖蛋白结合域。该基因的突变是心脏病的一个原因。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2022 年 5 月]

This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin Cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Mutations in this gene are a cause of cardiopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2022]

FLNC 基因产物(2)

mRNA Protein Name
NM_001127487.2 NP_001120959.1 filamin-C isoform b
NM_001458.5 NP_001449.3 filamin-C isoform a
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 ankyrin binding IPI
IPI: 通过物理相互作用推断
21223964 GOA
enables cytoskeletal protein binding IPI
IPI: 通过物理相互作用推断
17987659 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
15642266 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11038172 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in sarcomere organization IMP
IMP: 通过突变表型推断
34405687 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
12393796 GOA
located in sarcolemma IDA
IDA: 通过直接分析推断
21223964 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

FLNC 蛋白结构

CH

CH: Calponin homology (CH) domain (40 - 141)

CH

CH: Calponin homology (CH) domain (163 - 257)

Filamin

Filamin: Filamin/ABP280 repeat (274 - 365)

Filamin

Filamin: Filamin/ABP280 repeat (374 - 464)

Filamin

Filamin: Filamin/ABP280 repeat (472 - 562)

Filamin

Filamin: Filamin/ABP280 repeat (571 - 654)

Filamin

Filamin: Filamin/ABP280 repeat (665 - 755)

Filamin

Filamin: Filamin/ABP280 repeat (762 - 858)

Filamin

Filamin: Filamin/ABP280 repeat (866 - 956)

Filamin

Filamin: Filamin/ABP280 repeat (965 - 1052)

Filamin

Filamin: Filamin/ABP280 repeat (1060 - 1146)

Filamin

Filamin: Filamin/ABP280 repeat (1153 - 1240)

Filamin

Filamin: Filamin/ABP280 repeat (1248 - 1341)

Filamin

Filamin: Filamin/ABP280 repeat (1348 - 1434)

Filamin

Filamin: Filamin/ABP280 repeat (1441 - 1530)

Filamin

Filamin: Filamin/ABP280 repeat (1538 - 1627)

Filamin

Filamin: Filamin/ABP280 repeat (1634 - 1731)

Filamin

Filamin: Filamin/ABP280 repeat (1795 - 1850)

Filamin

Filamin: Filamin/ABP280 repeat (1859 - 1943)

Filamin

Filamin: Filamin/ABP280 repeat (2040 - 2125)

Filamin

Filamin: Filamin/ABP280 repeat (2238 - 2303)

Filamin

Filamin: Filamin/ABP280 repeat (2314 - 2397)

Filamin

Filamin: Filamin/ABP280 repeat (2418 - 2493)

Filamin

Filamin: Filamin/ABP280 repeat (2503 - 2589)

Filamin

Filamin: Filamin/ABP280 repeat (2633 - 2721)

  • 0
  • 500
  • 1000
  • 1500
  • 2000
  • 2500
  • 2725 a.a.
蛋白主名 其他名称

filamin-C

ABP-280-like protein

FLNC 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
种属内
FLNC Q14315 MYOT Homo sapiens Q9UBF9
Anti Tag CoIP
11038172
种属内
FLNC Q14315 MYOT Homo sapiens Q9UBF9
Y2H
11038172
种属内
FLNC Q14315 MYOT Homo sapiens Q9UBF9
Anti Bait CoIP
11038172
种属内
FLNC Q14315 XIRP1 Homo sapiens Q702N8
Y2H
16631741
种属内
FLNC Q14315 CRK Homo sapiens P46108
Peptide Array
17474147
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
Myopathy, Distal, 4

Distal Myopathy With Posterior Leg And Anterior Hand Involvement

MPD4

Williams Distal Myopathy

Distal Muscular Dystrophy 4

Distal Abd-Filaminopathy

Distal Myopathy 4

Myopathy, Distal, Type 4

Myopathy, Myofibrillar, 5

Myofibrillar Myopathy 5

MFM5

Myopathy, Myofibrillar, Filamin C-Related

Filaminopathy, Autosomal Dominant

Filaminopathy

Muscle Filaminopathy

Autosomal Dominant Filaminopathy

Mfm Filamin C-Related

Myopathy Myofibrillar Filamin C-Related

Myopathy, Myofibrillar, Type 5

Cardiomyopathy, Familial Hypertrophic, 26

Hypertrophic Cardiomyopathy 26

CMH26

Cardiomyopathy, Familial Restrictive 5

Cardiomyopathy, Familial Restrictive, 5

Cardiomyopathy Familial Hypertrophic 26

Cardiomyopathy, Familial Hypertrophic 26

RCM5

Familial Isolated Restrictive Cardiomyopathy

Familial Or Idiopathic Restrictive Cardiomyopathy

Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy

Cardiomyopathy, Restrictive

Cardiomyopathy, Constrictive

Primary Restrictive Cardiomyopathy

Rcm

Cardiomyopathy Restrictive

Hemifacial Hyperplasia

Hemifacial Hypertrophy

Facial Asymmetry

Facial Hemihypertrophy

Asymmetric Face

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]

Patent Foramen Ovale

Atrial Septal Defect Within Oval Fossa

Foramen Ovale Patent

Ostium Secundum Atrial Septal Defect

Atrial Septal Defect, Ostium Secundum Type

Foramen Ovale, Patent

Defect, Patent Or Persistent, Ostium Secundum

Ostium Secundum Type Atrial Septal Defect

Persistent Ostium Secundum

Asd Ostium Secundum Type

Ostium Secundum Asd

Osasd

Asd, Ostium Secundum Type

Pfo - [Patent Foramen Ovale]

Open Foramen Ovale

Open Oval Foramen

Persistent Foramen Ovale

Secundum Atrial Septal Defect

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

Spastic Ataxia

Spax

Ataxia, Spastic

Aceruloplasminemia

Cerebellar Ataxia

Hypoceruloplasminemia

Hemosiderosis, Systemic, Due To Aceruloplasminemia

Familial Apoceruloplasmin Deficiency

Hereditary Ceruloplasmin Deficiency

Deficiency Of Ferroxidase

Hypoceruloplasminemia, Hereditary

Ceruloplasmin Deficiency

Systemic Hemosiderosis Due To Aceruloplasminemia

ACERULOP

Heart Conduction Disease

Conduction Disorder Of The Heart

Heart Rhythm Disease

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

Cardiac Conduction Defect

Sudden Cardiac Death

Cardiac Conduction Defect, Susceptibility To

SCD

Cardiac Conduction Abnormality

Death Sudden Cardiac

Cardiac Conduction Disease

Conduction Disorder Of The Heart

Cardiomyopathy, Dilated, 1b

Cardiomyopathy, Familial Dilated, 1

Cardiomyopathy, Dilated 1b

CMD1B

Cmpd1

Cardiomyopathy, Familial Dilated

Fdc

Dilated Cardiomyopathy 1b

Familial Dilated Cardiomyopathy

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

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

Myopathy

Muscular Diseases

Myopathies

Boomerang Dysplasia

BOOMD

Boomerang-Like Skeletal Dysplasia

Dwarfism With Short, Bowed, Rigid Limbs And Characteristic Facies

Piepkorn Dysplasia

Dysplasia, Boomerang

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

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 2

Ibmpfd2

Msp2

Multisystem Proteinopathy 2

Cardiomyopathy, Familial Restrictive, 2

RCM2

Restrictive Cardiomyopathy 2

Familial Restrictive Cardiomyopathy 2

Cardiomyopathy, Restrictive, Familial, Type 2

Myopathy, Myofibrillar, 2

Alpha-B Crystallinopathy

Myofibrillar Myopathy 2

MFM2

Myopathy, Myofibrillar, Alpha-B Crystallin-Related

Myopathy, Desmin-Related, Associated With Mutation In The Cryab Gene

Myopathy, Myofibrillar, With Or Without Cataract And/Or Cardiomyopathy

Alpha-B Crystallin-Related Late-Onset Myopathy

Alpha-B Crystallin-Related Late-Onset Distal Myopathy

Late-Onset Distal Crystallinopathy

Alpha-B Crystallinopathy With Cataract

Desmin-Related Myopathy With Cataract

Mfm Alpha-B Crystallin-Related

Myofibrillar Myopathy Alpha-B Crystallin-Related

Myofibrillar Myopathy With Or Without Cataract And/Or Cardiomyopathy

Myopathy Cardioskeletal Desmin-Related With Cataract

Myopathy Desmin-Related Associated With Mutation In The Cryab Gene

Myopathy, Cardioskeletal, Desmin-Related, With Cataract

Myopathy, Myofibrillar, Type 2

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

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

Melnick-Needles Syndrome

MNS

Melnick-Needles Osteodysplasty

Osteodysplasty Of Melnick And Needles

Osteochondrodysplasias

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

Myopathy, Myofibrillar, 4

Myofibrillar Myopathy 4

MFM4

Zaspopathy

Myopathy, Myofibrillar, Zasp-Related

Myopathy, Spheroid Body

Spheroid Body Myopathy

Autosomal Dominant Spheroid Body Myopathy

SBM

Crab Allergy

Green Mud Crab Allergy

Scylla Paramamosain Allergy

Miyoshi Muscular Dystrophy

Distal Myopathy

Distal Muscular Dystrophy

Miyoshi Myopathy

Distal Myopathies

Dystrophy, Muscular, Miyoshi

Myopathy, Distal

Distal Muscular Dystrophies

Atelosteogenesis

Atelosteogenesis, Type 1

Otopalatodigital Syndrome Spectrum Disorder

Opd Spectrum Disorder

Opsd

Fronto-Otopalatodigital Osteodysplasia

Autosomal Dominant Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant

Frontometaphyseal Dysplasia

Fmd

Dysplasia, Frontometaphyseal

Postural Orthostatic Tachycardia Syndrome

Irritable Heart

Mitral Valve Prolapse Syndrome

Neurocirculatory Asthenia

Orthostatic Intolerance Due To Net Deficiency

Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency

Orhtostatic Intolerance

Postural Tachycardia Syndrome Due To Net Deficiency

Soldiers Heart

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

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, Centronuclear, 1

Autosomal Dominant Centronuclear Myopathy

CNM1

Centronuclear Myopathy 1

Ad-Cnm

Myopathy, Centronuclear, Autosomal Dominant

Myotubular Myopathy, Autosomal Dominant

Centronuclear Myopathy, Autosomal, Modifier Of

Autosomal Dominant Myotubular Myopathy

Dnm2-Related Centronuclear Myopathy

Centronuclear Myopathy Autosomal Dominant

Myopathies, Structural, Congenital

Myopathy, Centronuclear, Type 1

Myopathy, Myofibrillar, 8

Myofibrillar Myopathy 8

MFM8

Myopathy, Myofibrillar, Type 8

Otopalatodigital Syndrome, Type Ii

Otopalatodigital Syndrome Type 2

Faciopalatoosseous Syndrome

OPD2

Opd Ii Syndrome

Opd Syndrome 2

Cranioorodigital Syndrome

Fpo

Oto-Palato-Digital Syndrome, Type Ii

Andre Syndrome

Oto-Palato-Digital Syndrome Type 2

Otopalatodigital Syndrome Type Ii

Cranio-Oro-Digital Syndrome

Opd 2 Syndrome

Opd Syndrome, Type 2

Taybi Syndrome

Otopalatodigital Syndrome 2

Oto-Palato-Digital Syndrome, Type 2

Oto-Palato-Digital Syndrome Type 1

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

Scapuloperoneal Myopathy
Myopathy, Myofibrillar, 7

Myofibrillar Myopathy 7

MFM7

Kyphosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome

Myopathy, Myofibrillar, Type 7

Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma

Carvajal Syndrome

Palmoplantar Keratoderma With Left Ventricular Cardiomyopathy And Woolly Hair

DCWHK

Dilated Cardiomyopathy With Woolly Hair And Keratoderma

Cardiomyopathy Dilated With Woolly Hair And Keratoderma

Kwwh Type Ii

Keratoderma With Woolly Hair Type Ii

Woolly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome

Woolly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome

Wooly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome

Wooly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome

Epidermolytic Palmoplantar Keratoderma Woolly Hair And Dilated Cardiomyopathy

Wooly Hair - Palmoplantar Keratoderma - Dilated Cardiomyopathy

Cardiomyopathy, Dilated With Woolly Hair And Keratoderma

Mitochondrial Dna Depletion Syndrome 12b
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

Xanthomatosis

Xanthomatosis, Susceptibility To

Xanthelasmatosis

Gastric Cancer

Stomach Cancer

Gastric Carcinoma

Stomach Carcinoma

Gastric Cancer, Somatic

Gastric Neoplasm

Carcinoma Of Stomach

Stomach Neoplasms

Malignant Neoplasm Of Stomach

Gastric Cancer Risk After H. Pylori Infection

Cancer Of The Stomach

Adult Stomach Cancer

Adult Stomach Carcinoma

GASC

Gastric Cancer Intestinal

Gastric Cancers

Gastric Carcinomas

Cancer, Gastric

Stomach Neoplasm

Malignant Neoplasm Of Body Of Stomach

Malignant Tumor Of Lesser Curve Of Stomach

Gastrocarcinoma Of Unspecified Site

Leather Bottle Stomach

Carcinoma Of Fundus Of Stomach

Cancer Of Fundus Of Stomach

Primary Malignant Neoplasm Of Body Of Stomach

Cancer Of Body Of Stomach

Primary Malignant Neoplasm Of Pyloric Antrum

Pyloric Antrum Cancer

Malignant Tumour Of Stomach

Hyaline Body Myopathy

Myosin Storage Myopathy

Autosomal Dominant Hyaline Body Myopathy

Myopathy, Myosin Storage

Myopathy, Centronuclear, 5

CNM5

Centronuclear Myopathy 5

Myopathy, Centronuclear, Type 5

Naxos Disease

Mal De Naxos

NXD

Cardiomyopathy, Arrhythmogenic Right Ventricular, With Skin, Hair, And Nail Abnormalities

Woolly Hair, Palmoplantar Keratoderma, And Cardiac Abnormalities

Palmoplantar Keratoderma With Arrhythmogenic Right Ventricular Cardiomyopathy And Woolly Hair

Keratosis Palmoplantaris With Arrythmogenic Cardiomyopathy

Keratosis Palmoplantaris With Arrhythmogenic Cardiomyopathy

Keratosis Palmoplantaris Arrythmogenic Cardiomyopathy Woolly Hair

Woolly Hair Palmoplantar Keratoderma Cardiac Abnormalities

Kwwh Type I

Keratoderma With Woolly Hair Type I

Palmoplantar Hyperkeratosis With Arrythmogenic Cardiomyopathy

Palmoplantar Keratoderma With Arrythmogenic Cardiomyopathy

Cardiac Sarcoidosis
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

Larsen Syndrome

LRS

Larsen Syndrome, Dominant Type

Dominant Larsen Syndrome

Autosomal Dominant Larsen Syndrome

Larsens Syndrome

Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j

Lgmd2j

Muscular Dystrophy, Limb-Girdle, Type 2j

Congenital Structural Myopathy
Terminal Osseous Dysplasia

Terminal Osseous Dysplasia And Pigmentary Defects

Terminal Osseous Dysplasia-Pigmentary Defects Syndrome

Todpd

TOD

Odpd

Odpf Syndrome

Osseous Dysplasia, Digital, With Facial Pigmentary Defects And Multiple Frenula

Odpf

Digital Osseous Dysplasia With Facial Pigmentary Defects And Multiple Frenula

Terminal Osseous Dysplasia With Pigmentary Defects

Dcd

Digitocutaneous Dysplasia

Terminal Osseous Dysplasia And Pigmentary Defect Syndrome

Osseous Dysplasia And Pigmentary Defects

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

Palmoplantar Keratoderma, Nonepidermolytic

Nonepidermolytic Palmoplantar Keratoderma

NEPPK

Tylosis

Unna-Thost Syndrome

Keratoderma, Palmoplantar, Diffuse

Ppkne

Keratoderma, Nonepidermolytic Palmoplantar

Diffuse Nonepidermolytic Palmomplantar Keratoderma

Thost-Unna Syndrome

Non-Epidermolytic Palmoplantar Keratoderma

Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type

Diffuse Palmoplantar Keratoderma, Bothnian Type

Krt1-Related Diffuse Nonepidermolytic Keratoderma

Krt1-Related Diffuse Neppk

Keratoderma, Palmoplantar, Non-Epidermolytic

Nonepidermolytic Unna-Thost Disease

Non-Epidermolytic Unna-Thost Disease

Keratoderma, Palmoplantar, Nonepidermolytic

Hyperkeratosis

Intrinsic Cardiomyopathy
Batten-Turner Congenital Myopathy

Congenital Myopathy

Batten Turner Congenital Myopathy

Myopathy Congenital

Myopathy, Congenital

Myotonia Congenita

Benign Congenital Myopathy

Familial Woolly Hair Syndrome

Wooly Hair

Familial Wooly Hair Syndrome

Hereditary Woolly Hair Syndrome

Hereditary Wooly Hair Syndrome

Woolly Hair

Syndrome With Woolly Hair

Wooly Hair Syndrome

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

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

Orthostatic Intolerance

Mitral Valve Prolapse

Neurocirculatory Asthenia

Mitral Valve Prolapse Syndrome

Irritable Heart

Systolic Click-Murmur Syndrome

Soldiers Heart

Cardiovascular Malfunction Arising From Mental Factors

Cardiovascular Neurosis

Da Costa'S Syndrome

Krishaber'S Disease

Barlow'S Syndrome

Floppy Mitral Valve

Mitral Leaflet Syndrome

Myxomatous Mitral Valve Prolapse

Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency

Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency

Orthostatic Intolerance Due To Net Deficiency

Pots Due To Net Deficiency

OI

Intolerance, Orthostatic

Mitral Valve Prolapse, Familial, X-Linked

Ballooning Mitral Valve

Barlow Syndrome

Flail Mitral Leaflet

Myxomatous Mitral Valve

Mitral Valve Prolapse-Click Syndrome

Prolapsing Mitral Valve Leaflet Syndrome

Billowing Mitral Valve Leaflet

Posterior Mitral Leaflet Deformity

Ballooning Posterior Leaflet Syndrome

Blue Valve Syndrome

Floppy Mitral Valve Syndrome

Mitral Valvular Prolapse

Systolic Click Syndrome

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

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

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

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

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]

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

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

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
Macaca mulatta FLNC VGNC VGNC:72673
Felis catus FLNC VGNC VGNC:62293
Rattus norvegicus FLNC RGD RGD:1308807
Mus musculus FLNC MGD MGI:95557
Bos taurus FLNC VGNC VGNC:29035
Canis familiaris FLNC VGNC VGNC:40902