KEGG    Network variation - Cytoskeleton in muscle cells
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ENTRYnt06539
NameCytoskeleton in muscle cells
CategoryPathway view; Cellular process
Pathwayhsa04820 Cytoskeleton in muscle cells
DiseaseH00294 Dilated cardiomyopathy
H00292 Hypertrophic cardiomyopathy
H01219 Restrictive cardiomyopathy
H00293 Arrhythmogenic right ventricular cardiomyopathy
H01810 Congenital myopathy
H00562 Dystrophinopathies
H00593 Limb-girdle muscular dystrophy
Display drug-target relation   disease type
N01814    (COL1/3/5/9/11A+DC..=(COL6A+THBS)=(COL4A+FBLN1/2+HSP..=Costamere
    OI1/2/3/4/OST/ICH/EDSARTH1/OIEDS1 COL1A1*
    OI2/3/4/OST/EDSCV/EDSARTH2/OIEDS2 COL1A2*
    PMGEDSV/EDSVASC COL3A1*
    EDSCL1/FMDMF COL5A1*
    EDSCL2 COL5A2*
    EDM6/STL4 COL9A1*
    EDM2/STL5 COL9A2*
    EDM3/STL6/IDD COL9A3*
    DFNA37/STL2/FBCG1/MRSHS/IDD COL11A1*
    DFNA13/DFNB53/STL3/OSMED/FBCG2 COL11A2*
    CSCD DCN*
    WGVRP VCAN*
    SVAS/ADCL1 ELN*
    UCMD1A/BTHLM1A   COL6A1*
    UCMD1B/BTHLM1B   COL6A2*
    UCMD1/BTHLM1/DYT27   COL6A3*
    IDD/EDSCL3   THBS2*
    EDM1/PSACH/CTS2   COMP*
    HANAC/BSVD1     COL4A1*
    PADMAL     COL4A1*
    BSVD2     COL4A2*
    ATS3/BFH2     COL4A3*
    ATS2/BFH1     COL4A4*
    ATS1     COL4A5*
    DFNX6     COL4A6*
    SPD2     FBLN1*
    DDSH/SJS1     HSPG2*
    GFND/SMDCF     FN1*
    CMS8     AGRN*
    SEMDX/MRLS     BGN*
    MFS/WMS2/SSS/GPHYSD2/ACMICD     FBN1*
    DA9     FBN2*
 
N01758    (DSC2,DSG2)=(PKP2,JUP+DSP)=(DES,VIM)=Z-disc
    ARVD11 DSC2*
    ARVD10/CMD1BB DSG2*
    ARVD9   PKP2*
    ARVD12/NXD   JUP*
    ARVD8/PPKS2/EBLA/DCWHK   DSP*
    CMD1I/MFM1/SCPNK     DES*
 
N01815    ECM=LAMA=(ITGA+ITGB)=TLN=VCL=ACTN=ACTB/G=Z-disc
    JEB7     ITGA3*
    JEB5     ITGB4*
    JEB6     ITGA6*
    CMD     ITGA7*
    CMH15/CMD1W         VCL*
    CMH23/CMD1AA/MPD6/CMYP8           ACTN2*
    BNS             ACTB*
    VSCM1/MMIHS5             ACTG2*
    BRWS1/DDS1             ACTB*
    BRWS2/DFNA20/26             ACTG1*
 
N01816    ECM=LAMA=(DAG1+SGC+SSPN)=(DMD+SNTA/B+DTNA+F..=DES=Z-disc
    LGMDR23/MDC1A   LAMA2*
    LGMDR16/MDDG     DAG1*
    LGMDR3     SGCA*
    LGMDR4     SGCB*
    LGMDR6/CMD1L     SGCD*
    DYT11     SGCE*
    LGMDR5     SGCG*
       D1,D2,D3,D4
 |
    DMD/BMD/CMD3B       DMD*
    LVNC1       DTNA*
    CMH26/MPD4/MFM5/RCM5       FLNC*
 
   D5
 |
      
N01817    Actin_thin_filamen..=(MYH+MYL+MYBP)=TTN=(MYOM,TCAP)=M-band,Z-disc
    CMYP6   MYH2*
    DA2A/B3/CPSFS   MYH3*
    CMH14/CMD1EE/ASD3/SSS3   MYH6*
    CMH1/CMD1S/MPD1/CMYP7   MYH7*
    DA7   MYH8*
    AAT4/MMIHS2/VSCM2   MYH11*
    CMYP14   MYL1*
    CMH10/MFM12   MYL2*
    CMH8   MYL3*
    ATFB18   MYL4*
    MMIHS4   MYL9*
    DA1C   MYL11*
    DA1B/LCCS4/CMYP16   MYBPC1*
    CMH4/CMD1MM   MYBPC3*
    CMD1G/LGMDR10/MFM9/CMYP5     TTN*
    CMH9     TTN*
    LGMDR7       TCAP*
    CMH25       TCAP*
 
         D5
 |
  
N01818    Ca2+(TNNC+TNNI+TNNT)TPMACTA/C=MYH=Myosin_thick_filam..
    CMD1Z   TNNC1*
    CMYP15   TNNC2*
    CMD1FF/CMD2A/RCM1   TNNI3*
    NEM5   TNNT1*
    CMD1D/RCM3   TNNT2*
    CMH13   TNNC1*
    DA2B1   TNNI2*
    CMH7   TNNI3*
    RCM3/CMH2   TNNT2*
    DA2B2   TNNT3*
    CMD1Y     TPM1*
    CMYP4     TPM3*
    CMH3     TPM1*
    CMYP4A     TPM3*
    CMYP2/SHPM       ACTA1*
    CMD1R/ASD5       ACTC1*
    CMH11       ACTC1*
 
N01819    (TMOD,LMOD)=(ACTA/C+TPM+(NEB,N..=CAPZ=Z-disc
    MMIHS3 LMOD1*
    CMD2G LMOD2*
    NEM2/AMC6   NEB*
 
N01820    Actin_thin_filamen..=ACTA/C=(MYOT+ACTN2/3)=(MLP,MYOZ,MYPN,MAR..
    MFM3     MYOT*
    CMD1M/CMH12       CSRP3*
    CMH16       MYOZ2*
    CMH22/CMYP24/CMD1KK/RCM4       MYPN*
    CMH28       FHOD3*
 
N01821    Myosin_thick_filam..=MYOM=(OBSCN,ENO,MURF,CA..
    SPG76     CAPN1*
    LGMDD4/R1     CAPN3*
    NEM7     CFL2*
 
N01822    DES=PLEC=(SYNE3,SYNE1,SYNE2..=(SUN,TMEM43,EMD,LB..=(LMNA+LMNB)
    EBS5/LGMDR17   PLEC*
    EDMD5     SYNE2*
    ARVD5/EDMD7/AUNA3       TMEM43*
    EDMD1       EMD*
    PHA/REYNOLDS/SKPHA       LBR*
    EDMD2/3/CMD1A/FPLD2/CMT2B1/CMD/HGPS/RSDM2/MADA/HHS-S         LMNA*
    MCPH27/APLD/EPM9         LMNB2*
    MCPH26         LMNB1*
    ADLD         LMNB1*

Disease nameDisease category
OI1/2/3/4/OST/ICH/EDSARTH1/OIEDS1H00506Osteogenesis imperfectaCongenital malformation
H01593OsteoporosisMusculoskeletal disease
H00613Infantile cortical hyperostosisMusculoskeletal disease
H02243Ehlers-Danlos syndrome arthrochalasia typeCongenital malformation
H02724Combined osteogenesis imperfecta and Ehlers-Danlos syndromeCongenital malformation
OI2/3/4/OST/EDSCV/EDSARTH2/OIEDS2H00506Osteogenesis imperfectaCongenital malformation
H01593OsteoporosisMusculoskeletal disease
H02241Ehlers-Danlos syndrome cardiac valvular typeCongenital malformation
H02243Ehlers-Danlos syndrome arthrochalasia typeCongenital malformation
H02724Combined osteogenesis imperfecta and Ehlers-Danlos syndromeCongenital malformation
PMGEDSV/EDSVASCH00271PolymicrogyriaCongenital malformation
H02242Ehlers-Danlos syndrome vascular typeCongenital malformation
EDSCL1/FMDMFH00802Ehlers-Danlos syndromeCongenital malformation
H02719Multifocal fibromuscular dysplasiaCardiovascular disease
EDSCL2H00802Ehlers-Danlos syndromeCongenital malformation
EDM6/STL4H00476Multiple epiphyseal dysplasiaCongenital malformation
H02072Stickler syndromeCongenital malformation
EDM2/STL5H00476Multiple epiphyseal dysplasiaCongenital malformation
H02072Stickler syndromeCongenital malformation
EDM3/STL6/IDDH00476Multiple epiphyseal dysplasiaCongenital malformation
H02072Stickler syndromeCongenital malformation
H02539Intervertebral disc diseaseMusculoskeletal disease
DFNA37/STL2/FBCG1/MRSHS/IDDH00604Deafness, autosomal dominantNervous system disease
H00805Vitreoretinal degenerationNervous system disease
H02080FibrochondrogenesisCongenital malformation
H02081Marshall syndromeCongenital malformation
H02539Intervertebral disc diseaseMusculoskeletal disease
DFNA13/DFNB53/STL3/OSMED/FBCG2H00604Deafness, autosomal dominantNervous system disease
H00605Deafness, autosomal recessiveNervous system disease
H02072Stickler syndromeCongenital malformation
H02079Oto-spondylo-megaepiphyseal dysplasiaCongenital malformation
H02080FibrochondrogenesisCongenital malformation
CSCDH00958Congenital stromal corneal dystrophyNervous system disease
WGVRPH00805Vitreoretinal degenerationNervous system disease
SVAS/ADCL1H00553Congenital supravalvular aortic stenosisCongenital malformation
H00557Cutis laxaCongenital malformation
UCMD1A/BTHLM1AH01341Collagen VI myopathyNervous system disease
UCMD1B/BTHLM1BH01341Collagen VI myopathyNervous system disease
UCMD1/BTHLM1/DYT27H01341Collagen VI myopathyNervous system disease
H00831Primary dystoniaNervous system disease
IDD/EDSCL3H02539Intervertebral disc diseaseMusculoskeletal disease
H00802Ehlers-Danlos syndromeCongenital malformation
EDM1/PSACH/CTS2H00476Multiple epiphyseal dysplasiaCongenital malformation
H00477PseudoachondroplasiaCongenital malformation
H00798Familial carpal tunnel syndromeNervous system disease
HANAC/BSVD1H00579Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC)Congenital malformation
H00877Brain small vessel diseaseCardiovascular disease
PADMALH02718Autosomal dominant pontine microangiopathy and leukoencephalopathyCongenital malformation
BSVD2H00877Brain small vessel diseaseCardiovascular disease
ATS3/BFH2H00581Alport syndromeCongenital malformation
H00582Benign familial hematuriaUrinary system disease
ATS2/BFH1H00581Alport syndromeCongenital malformation
H00582Benign familial hematuriaUrinary system disease
ATS1H00581Alport syndromeCongenital malformation
DFNX6H01209Deafness, X-linkedNervous system disease
SPD2H00459SynpolydactylyCongenital malformation
DDSH/SJS1H00493Heparan sulfate proteoglycan gene defectsCongenital malformation
GFND/SMDCFH01260Glomerulopathy with fibronectin depositsUrinary system disease
H02185Spondylometaphyseal dysplasiaCongenital malformation
CMS8H00770Congenital myasthenic syndromeNervous system disease
SEMDX/MRLSH02187Spondyloepimetaphyseal dysplasiaCongenital malformation
H02720Meester-Loeys syndromeCardiovascular disease
MFS/WMS2/SSS/GPHYSD2/ACMICDH00653Marfan syndromeCongenital malformation
H00673Weill-Marchesani syndromeCongenital malformation
H01173Stiff skin syndromeSkin disease
H00900Geleophysic dysplasiaCongenital malformation
H02228Acromicric dysplasiaCongenital malformation
DA9H00811Distal arthrogryposisCongenital malformation
ARVD11H00293Arrhythmogenic right ventricular cardiomyopathyCardiovascular disease
ARVD10/CMD1BBH00293Arrhythmogenic right ventricular cardiomyopathyCardiovascular disease
H00294Dilated cardiomyopathyCardiovascular disease
ARVD9H00293Arrhythmogenic right ventricular cardiomyopathyCardiovascular disease
ARVD12/NXDH00293Arrhythmogenic right ventricular cardiomyopathyCardiovascular disease
H00669Naxos diseaseCongenital malformation
ARVD8/PPKS2/EBLA/DCWHKH00293Arrhythmogenic right ventricular cardiomyopathyCardiovascular disease
H00717Striate palmoplantar keratodermaCongenital malformation
H01737Epidermolysis bullosaCongenital malformation
H02094Carvajal syndromeCongenital malformation
CMD1I/MFM1/SCPNKH00294Dilated cardiomyopathyCardiovascular disease
H00595Myofibrillar myopathiesNervous system disease
H00656Scapuloperoneal myopathyNervous system disease
JEB7H00586Epidermolysis bullosa, junctionalCongenital malformation
JEB5H00586Epidermolysis bullosa, junctionalCongenital malformation
JEB6H00586Epidermolysis bullosa, junctionalCongenital malformation
CMDH00590Congenital muscular dystrophies (CMD/MDC)Nervous system disease
CMH15/CMD1WH00292Hypertrophic cardiomyopathyCardiovascular disease
H00294Dilated cardiomyopathyCardiovascular disease
CMH23/CMD1AA/MPD6/CMYP8H00292Hypertrophic cardiomyopathyCardiovascular disease
H00294Dilated cardiomyopathyCardiovascular disease
H00594Distal myopathyNervous system disease
H01810Congenital myopathyNervous system disease
BNSH02716Becker nevus syndromeCongenital malformation
VSCM1/MMIHS5H02553Visceral myopathyCongenital malformation
H01869Megacystis microcolon intestinal hypoperistalsis syndromeCongenital malformation
BRWS1/DDS1H02023Baraitser-Winter syndromeCongenital malformation
H01255Juvenile-onset dystoniaCongenital malformation
BRWS2/DFNA20/26H02023Baraitser-Winter syndromeCongenital malformation
H00604Deafness, autosomal dominantNervous system disease
LGMDR23/MDC1AH00593Limb-girdle muscular dystrophyNervous system disease
H01958Merosin-deficient congenital muscular dystrophyNervous system disease
LGMDR16/MDDGH00593Limb-girdle muscular dystrophyNervous system disease
H02307Muscular dystrophy-dystroglycanopathyInherited metabolic disorder
LGMDR3H00593Limb-girdle muscular dystrophyNervous system disease
LGMDR4H00593Limb-girdle muscular dystrophyNervous system disease
LGMDR6/CMD1LH00593Limb-girdle muscular dystrophyNervous system disease
H00294Dilated cardiomyopathyCardiovascular disease
DYT11H00831Primary dystoniaNervous system disease
LGMDR5H00593Limb-girdle muscular dystrophyNervous system disease
DMD/BMD/CMD3BH00562DystrophinopathiesNervous system disease
LVNC1H01216Left ventricular noncompactionCardiovascular disease
CMH26/MPD4/MFM5/RCM5H00292Hypertrophic cardiomyopathyCardiovascular disease
H00594Distal myopathyNervous system disease
H00595Myofibrillar myopathiesNervous system disease
H01219Restrictive cardiomyopathyCardiovascular disease
CMYP6H01810Congenital myopathyNervous system disease
DA2A/B3/CPSFSH00811Distal arthrogryposisCongenital malformation
H02717Contractures, pterygia, and spondylocarpotarsal fusion syndromeCongenital malformation
CMH14/CMD1EE/ASD3/SSS3H00292Hypertrophic cardiomyopathyCardiovascular disease
H00294Dilated cardiomyopathyCardiovascular disease
H00546Atrial septal defectCongenital malformation
H00729Sick sinus syndromeCardiovascular disease
CMH1/CMD1S/MPD1/CMYP7H00292Hypertrophic cardiomyopathyCardiovascular disease
H00294Dilated cardiomyopathyCardiovascular disease
H00594Distal myopathyNervous system disease
H01810Congenital myopathyNervous system disease
DA7H00811Distal arthrogryposisCongenital malformation
AAT4/MMIHS2/VSCM2H00801Familial thoracic aortic aneurysm and dissectionCardiovascular disease
H01869Megacystis microcolon intestinal hypoperistalsis syndromeCongenital malformation
H02553Visceral myopathyCongenital malformation
CMYP14H01810Congenital myopathyNervous system disease
CMH10/MFM12H00292Hypertrophic cardiomyopathyCardiovascular disease
H00595Myofibrillar myopathiesNervous system disease
CMH8H00292Hypertrophic cardiomyopathyCardiovascular disease
ATFB18H00731Atrial fibrillationCardiovascular disease
MMIHS4H01869Megacystis microcolon intestinal hypoperistalsis syndromeCongenital malformation
DA1CH00811Distal arthrogryposisCongenital malformation
DA1B/LCCS4/CMYP16H00811Distal arthrogryposisCongenital malformation
H00865Lethal congenital contractural syndromeCongenital malformation
H01810Congenital myopathyNervous system disease
CMH4/CMD1MMH00292Hypertrophic cardiomyopathyCardiovascular disease
H00294Dilated cardiomyopathyCardiovascular disease
CMD1G/LGMDR10/MFM9/CMYP5H00294Dilated cardiomyopathyCardiovascular disease
H00593Limb-girdle muscular dystrophyNervous system disease
H00595Myofibrillar myopathiesNervous system disease
H01810Congenital myopathyNervous system disease
CMH9H00292Hypertrophic cardiomyopathyCardiovascular disease
LGMDR7H00593Limb-girdle muscular dystrophyNervous system disease
CMH25H00292Hypertrophic cardiomyopathyCardiovascular disease
CMD1ZH00294Dilated cardiomyopathyCardiovascular disease
CMYP15H01810Congenital myopathyNervous system disease
CMD1FF/CMD2A/RCM1H00294Dilated cardiomyopathyCardiovascular disease
H01219Restrictive cardiomyopathyCardiovascular disease
NEM5H00698Nemaline myopathyNervous system disease
CMD1D/RCM3H00294Dilated cardiomyopathyCardiovascular disease
H01219Restrictive cardiomyopathyCardiovascular disease
CMH13H00292Hypertrophic cardiomyopathyCardiovascular disease
DA2B1H00811Distal arthrogryposisCongenital malformation
CMH7H00292Hypertrophic cardiomyopathyCardiovascular disease
RCM3/CMH2H01219Restrictive cardiomyopathyCardiovascular disease
H00292Hypertrophic cardiomyopathyCardiovascular disease
DA2B2H00811Distal arthrogryposisCongenital malformation
CMD1YH00294Dilated cardiomyopathyCardiovascular disease
CMYP4H01810Congenital myopathyNervous system disease
CMH3H00292Hypertrophic cardiomyopathyCardiovascular disease
CMYP4AH01810Congenital myopathyNervous system disease
CMYP2/SHPMH01810Congenital myopathyNervous system disease
H02721Scapulohumeroperoneal myopathyNervous system disease
CMD1R/ASD5H00294Dilated cardiomyopathyCardiovascular disease
H00546Atrial septal defectCongenital malformation
CMH11H00292Hypertrophic cardiomyopathyCardiovascular disease
MMIHS3H01869Megacystis microcolon intestinal hypoperistalsis syndromeCongenital malformation
CMD2GH00294Dilated cardiomyopathyCardiovascular disease
NEM2/AMC6H00698Nemaline myopathyNervous system disease
H02299Arthrogryposis multiplex congenitaCongenital malformation
MFM3H00595Myofibrillar myopathiesNervous system disease
CMD1M/CMH12H00294Dilated cardiomyopathyCardiovascular disease
H00292Hypertrophic cardiomyopathyCardiovascular disease
CMH16H00292Hypertrophic cardiomyopathyCardiovascular disease
CMH22/CMYP24/CMD1KK/RCM4H00292Hypertrophic cardiomyopathyCardiovascular disease
H01810Congenital myopathyNervous system disease
H00294Dilated cardiomyopathyCardiovascular disease
H01219Restrictive cardiomyopathyCardiovascular disease
CMH28H00292Hypertrophic cardiomyopathyCardiovascular disease
SPG76H00266Hereditary spastic paraplegiaNervous system disease
LGMDD4/R1H00593Limb-girdle muscular dystrophyNervous system disease
NEM7H00698Nemaline myopathyNervous system disease
EBS5/LGMDR17H00584Epidermolysis bullosa simplexCongenital malformation
H00593Limb-girdle muscular dystrophyNervous system disease
EDMD5H00563Emery-Dreifuss muscular dystrophyNervous system disease
ARVD5/EDMD7/AUNA3H00293Arrhythmogenic right ventricular cardiomyopathyCardiovascular disease
H00563Emery-Dreifuss muscular dystrophyNervous system disease
H02339Auditory neuropathyNervous system disease
EDMD1H00563Emery-Dreifuss muscular dystrophyNervous system disease
PHA/REYNOLDS/SKPHAH00234Pelger-Huet anomalyHematologic disease
H01133Reynolds syndromeImmune system disease
H02732Rhizomelic skeletal dysplasia with or without Pelger-Huet anomalyCongenital malformation
EDMD2/3/CMD1A/FPLD2/CMT2B1/CMD/HGPS/RSDM2/MADA/HHS-SH00563Emery-Dreifuss muscular dystrophyNervous system disease
H00294Dilated cardiomyopathyCardiovascular disease
H00420Familial partial lipodystrophyInherited metabolic disorder
H00264Charcot-Marie-Tooth diseaseNeurodegenerative disease
H00590Congenital muscular dystrophies (CMD/MDC)Nervous system disease
H00601Hutchinson-Gilford progeria syndromeInherited metabolic disorder
H00663Restrictive dermopathyCongenital malformation
H00665Mandibuloacral dysplasiaCongenital malformation
H02725Heart-hand syndromeCongenital malformation
MCPH27/APLD/EPM9H00269Primary microcephalyCongenital malformation
H00420Familial partial lipodystrophyInherited metabolic disorder
H00810Progressive myoclonic epilepsyNervous system disease
MCPH26H00269Primary microcephalyCongenital malformation
ADLDH01230Adult-onset autosomal dominant leukodystrophyNervous system disease


Drug name
D1D09900Eteplirsen (USAN/INN)
D2D11528Viltolarsen (JAN/USAN)
D3D11707Golodirsen (USAN/INN)
D4D11988Casimersen (USAN/INN)
D5D12902Sevasemten (USAN/INN)