FLNC - filamin C Gene

Also Known as ABPA; ABPL; FLN2; MFM5; MPD4; RCM5; CMH26; ABP-280; ABP280A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2318

About 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.

Summary

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 Products (2)

mRNA Protein Name
NM_001127487.2 NP_001120959.1 filamin-C isoform b
NM_001458.5 NP_001449.3 filamin-C isoform a
Molecular Function GO Annotation Evidence References Source
enables ankyrin binding IPI
IPI: Inferred from physical interaction
21223964 GOA
enables cytoskeletal protein binding IPI
IPI: Inferred from physical interaction
17987659 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
15642266 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11038172 GOA
Biological Process GO Annotation Evidence References Source
involved in sarcomere organization IMP
IMP: Inferred from mutant phenotype
34405687 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
12393796 GOA
located in sarcolemma IDA
IDA: Inferred from direct assay
21223964 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

FLNC Protein Structure

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.
Protein Preferred Names Protein Names

filamin-C

  • ABP-280-like protein

FLNC Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
FLNC Q14315 MYOT Homo sapiens Q9UBF9 11038172
Intra
FLNC Q14315 MYOT Homo sapiens Q9UBF9
Y2H
11038172
Intra
FLNC Q14315 MYOT Homo sapiens Q9UBF9 11038172
Intra
FLNC Q14315 XIRP1 Homo sapiens Q702N8
Y2H
16631741
Intra
FLNC Q14315 CRK Homo sapiens P46108 17474147
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

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
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
Others FLNC NCBI