Disease table of MYOFIBRILLAR MYOPATHY OMIM ID: PS601419

Gene-disease associations table

GeneAssociated with MYOFIBRILLAR MYOPATHY inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
BAG3ClinVar, OMIM, HUMSAVARHGNC link10q26.112PS115200, PS601419
DESClinVar, OMIM, HUMSAVARHGNC link2q355181400, PS253600, PS601419, 142340, PS115200
CRYABClinVar, OMIM, HUMSAVARHGNC link11q23.13PS116200, PS115200, PS601419
DNAJB6ClinVarHGNC link7q36.32PS159000, PS601419
MYOTClinVar, OMIM, HUMSAVARHGNC link5q31.22PS159000, PS601419
LDB3ClinVar, OMIMHGNC link10q23.24PS604169, PS192600, PS601419, PS115200
FLNCClinVar, OMIMHGNC link7q32.12614065, PS601419

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
7q32FLNC, DNAJB6
10q22BAG3, LDB3
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
10q2BAG3, LDB3
7q2FLNC, DNAJB6
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
102BAG3, LDB3
72FLNC, DNAJB6
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
BAG3YES2GTF3A, HSF10
DESYES1TRIM160
CRYABYES4TP53, HMGA1, TFAP2B, TFAP2A0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
BAG3DESNo7CRYAB, CAPN1, CCT7, HNRNPUL1, S100A1, HSPB1, YWHAQ
BAG3CRYABYes10CRYAB, BCL2, HSPA4, BAX, CASP3, PRKAG3, HSPB1, HSPB8, PSMA3, BAG3
BAG3DNAJB6Yes12BAG1, HSPA8, HSPB8, EBNA-LP, HDAC6, HSPA1A, SOX2, BAG3, BAG2, MLF2, DYNLT1, STUB1
BAG3LDB3No1HSPA1A
BAG3FLNCNo8PSMD3, EBNA-LP, MCM5, WNK1, FBXW11, TNFAIP1, SYNPO2, PSMD12
DESCRYABYes2CRYAB, HSPB1
DESMYOTNo2TRIM55, TRIM63
DESFLNCNo2TRIM55, TRIM63
CRYABDNAJB6No4HSPB8, TP53, APP, BAG3
CRYABMYOTNo1APP
CRYABLDB3No1ALB
CRYABFLNCNo1HSPB2
DNAJB6MYOTNo1APP
DNAJB6LDB3No1HSPA1A
DNAJB6FLNCNo4CUL3, KSR1, EBNA-LP, TP63
MYOTFLNCYes3TRIM55, MYOT, TRIM63

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
BAG3DESNo-1UBC
BAG3DNAJB6No-6HSPA8, HSPA4, HSP90AA1, HSPA6, HSP90AB1, UBC
BAG3FLNCNo-1UBC
DESDNAJB6No-1UBC
DESLDB3No-1ACTN2
DESFLNCNo-1UBC
DNAJB6LDB3No-1HSP90B1
DNAJB6FLNCNo-1UBC
LDB3FLNCNo-3MYOZ3, MYOZ2, MYOZ1

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
Hypertrophic cardiomyopathy (HCM) (hsa05410) NEW6.210.003CRYAB, DES, FLNC
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Cellular response to heat stressR-HSA-33715566.592DNAJB6, BAG3
Cellular responses to stressR-HSA-22627524.562DNAJB6, BAG3
Regulation of HSF1-mediated heat shock responseR-HSA-33714536.942DNAJB6, BAG3

NET-GE enrichment

Term New enriched termICP valueGenes
Regulation of HSF1-mediated heat shock response (R-HSA-3371453) -6.940.004DNAJB6, BAG3
Cellular responses to stress (R-HSA-2262752) -4.560.028DNAJB6, FLNC, CRYAB, BAG3
Cellular response to heat stress (R-HSA-3371556) -6.590.006DNAJB6, BAG3
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.187CRYAB, MYOT, DES, FLNC, LDB3, DNAJB6, BAG3
protein binding (GO:0005515) 0.467CRYAB, MYOT, DES, FLNC, LDB3, DNAJB6, BAG3
cytoskeletal protein binding (GO:0008092) 3.025MYOT, FLNC, DES, CRYAB, LDB3
structural molecule activity (GO:0005198) 3.13CRYAB, DES, MYOT
cation binding (GO:0043169) 1.42CRYAB, LDB3
metal ion binding (GO:0046872) 1.412CRYAB, LDB3
organic cyclic compound binding (GO:0097159) 1.052DNAJB6, BAG3
enzyme regulator activity (GO:0030234) 2.852DNAJB6, BAG3
chaperone binding (GO:0051087) 5.342DNAJB6, BAG3
unfolded protein binding (GO:0051082) 5.132CRYAB, DNAJB6
ion binding (GO:0043167) 1.362CRYAB, LDB3
actin binding (GO:0003779) 3.742FLNC, MYOT
alpha-actinin binding (GO:0051393) 6.62MYOT, LDB3
macromolecular complex binding (GO:0044877) 2.612FLNC, BAG3
ATPase regulator activity (GO:0060590) 6.342DNAJB6, BAG3
protein complex binding (GO:0032403) 3.092FLNC, BAG3
actinin binding (GO:0042805) 6.32MYOT, LDB3
molecular function regulator (GO:0098772) 2.512DNAJB6, BAG3
nucleoside-triphosphatase regulator activity (GO:0060589) 3.922DNAJB6, BAG3
heterocyclic compound binding (GO:1901363) 1.062DNAJB6, BAG3
identical protein binding (GO:0042802) 2.632CRYAB, DES

NET-GE enrichment

Term New enriched termICP valueGenes
structural constituent of muscle (GO:0008307) NEW6.020.042DES, MYOT
chaperone binding (GO:0051087) -5.340.008DNAJB6, BAG3
unfolded protein binding (GO:0051082) -5.130.029CRYAB, DNAJB6
cytoskeletal protein binding (GO:0008092) -3.020.0MYOT, FLNC, DES, CRYAB, LDB3
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.266FLNC, DES, CRYAB, LDB3, DNAJB6, BAG3
single-organism cellular process (GO:0044763) 0.656FLNC, DES, CRYAB, LDB3, DNAJB6, BAG3
single-organism process (GO:0044699) 0.486FLNC, DES, CRYAB, LDB3, DNAJB6, BAG3
cellular component organization (GO:0016043) 1.245DNAJB6, FLNC, DES, CRYAB, LDB3
cellular component organization or biogenesis (GO:0071840) 1.225FLNC, CRYAB, DES, DNAJB6, LDB3
developmental process (GO:0032502) 1.364DNAJB6, FLNC, CRYAB, BAG3
organelle organization (GO:0006996) 2.024CRYAB, DES, DNAJB6, LDB3
cytoskeleton organization (GO:0007010) 3.224CRYAB, DES, DNAJB6, LDB3
anatomical structure development (GO:0048856) 1.584DNAJB6, FLNC, CRYAB, BAG3
single-organism developmental process (GO:0044767) 1.494DNAJB6, FLNC, CRYAB, BAG3
single-organism organelle organization (GO:1902589) 2.684CRYAB, DES, DNAJB6, LDB3
biological regulation (GO:0065007) 0.394CRYAB, DES, DNAJB6, BAG3
regulation of biological process (GO:0050789) 0.454CRYAB, DES, DNAJB6, BAG3
multicellular organismal process (GO:0032501) 1.453CRYAB, DES, MYOT
protein folding (GO:0006457) 4.323CRYAB, DNAJB6, BAG3
actin filament-based process (GO:0030029) 3.943DNAJB6, DES, LDB3
muscle contraction (GO:0006936) 4.373CRYAB, DES, MYOT
regulation of cellular response to stress (GO:0080135) 3.43CRYAB, DNAJB6, BAG3
negative regulation of cell death (GO:0060548) 2.953CRYAB, DNAJB6, BAG3
regulation of response to stress (GO:0080134) 2.533CRYAB, DNAJB6, BAG3
regulation of catalytic activity (GO:0050790) 1.973CRYAB, DNAJB6, BAG3
regulation of response to stimulus (GO:0048583) 1.543CRYAB, DNAJB6, BAG3
regulation of programmed cell death (GO:0043067) 2.493CRYAB, DNAJB6, BAG3
regulation of cellular process (GO:0050794) 0.53CRYAB, DNAJB6, BAG3
muscle system process (GO:0003012) 4.183CRYAB, DES, MYOT
negative regulation of apoptotic process (GO:0043066) 3.043CRYAB, DNAJB6, BAG3
negative regulation of cellular process (GO:0048523) 1.413CRYAB, DNAJB6, BAG3
regulation of cellular response to heat (GO:1900034) 5.413CRYAB, DNAJB6, BAG3
negative regulation of biological process (GO:0048519) 1.333CRYAB, DNAJB6, BAG3
regulation of molecular function (GO:0065009) 1.783CRYAB, DNAJB6, BAG3
regulation of cell death (GO:0010941) 2.433CRYAB, DNAJB6, BAG3
regulation of apoptotic process (GO:0042981) 2.53CRYAB, DNAJB6, BAG3
negative regulation of programmed cell death (GO:0043069) 3.023CRYAB, DNAJB6, BAG3
system process (GO:0003008) 2.33CRYAB, DES, MYOT
cellular component assembly (GO:0022607) 2.142FLNC, CRYAB
negative regulation of metabolic process (GO:0009892) 1.932CRYAB, DNAJB6
regulation of primary metabolic process (GO:0080090) 1.082CRYAB, DNAJB6
regulation of metabolic process (GO:0019222) 1.022CRYAB, DNAJB6
negative regulation of cellular metabolic process (GO:0031324) 2.012CRYAB, DNAJB6
regulation of cellular metabolic process (GO:0031323) 1.072CRYAB, DNAJB6
actin cytoskeleton organization (GO:0030036) 4.12DNAJB6, LDB3
regulation of cellular component organization (GO:0051128) 2.012CRYAB, DNAJB6
negative regulation of gene expression (GO:0010629) 2.482CRYAB, DNAJB6
signal transduction (GO:0007165) 1.282CRYAB, BAG3
cell death (GO:0008219) 3.052CRYAB, BAG3
negative regulation of catalytic activity (GO:0043086) 3.02CRYAB, DNAJB6
cellular response to stimulus (GO:0051716) 1.972CRYAB, BAG3
negative regulation of macromolecule metabolic process (GO:0010605) 2.012CRYAB, DNAJB6
negative regulation of hydrolase activity (GO:0051346) 3.742CRYAB, DNAJB6
regulation of cysteine-type endopeptidase activity (GO:2000116) 4.372CRYAB, DNAJB6
negative regulation of cysteine-type endopeptidase activity (GO:2000117) 5.252CRYAB, DNAJB6
regulation of protein metabolic process (GO:0051246) 1.932CRYAB, DNAJB6
regulation of endopeptidase activity (GO:0052548) 3.82CRYAB, DNAJB6
negative regulation of peptidase activity (GO:0010466) 4.222CRYAB, DNAJB6
negative regulation of molecular function (GO:0044092) 2.742CRYAB, DNAJB6
regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281) 4.432CRYAB, DNAJB6
cellular response to abiotic stimulus (GO:0071214) 4.152CRYAB, BAG3
regulation of gene expression (GO:0010468) 1.372CRYAB, DNAJB6
regulation of peptidase activity (GO:0052547) 3.752CRYAB, DNAJB6
regulation of macromolecule metabolic process (GO:0060255) 1.082CRYAB, DNAJB6
apoptotic process (GO:0006915) 3.142CRYAB, BAG3
negative regulation of protein metabolic process (GO:0051248) 2.822CRYAB, DNAJB6
programmed cell death (GO:0012501) 3.12CRYAB, BAG3
regulation of proteolysis (GO:0030162) 3.22CRYAB, DNAJB6
negative regulation of endopeptidase activity (GO:0010951) 4.262CRYAB, DNAJB6
regulation of localization (GO:0032879) 1.942CRYAB, DNAJB6
response to abiotic stimulus (GO:0009628) 2.82CRYAB, BAG3
regulation of hydrolase activity (GO:0051336) 2.532CRYAB, DNAJB6
animal organ development (GO:0048513) 2.532CRYAB, BAG3
negative regulation of cellular protein metabolic process (GO:0032269) 2.882CRYAB, DNAJB6
regulation of cellular protein metabolic process (GO:0032268) 1.992CRYAB, DNAJB6
intermediate filament organization (GO:0045109) 6.732DNAJB6, DES
intermediate filament cytoskeleton organization (GO:0045104) 6.042DNAJB6, DES
response to stimulus (GO:0050896) 1.222CRYAB, BAG3
intermediate filament-based process (GO:0045103) 6.022DNAJB6, DES
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154) 5.292CRYAB, DNAJB6
cellular developmental process (GO:0048869) 1.822FLNC, DNAJB6
negative regulation of proteolysis (GO:0045861) 3.982CRYAB, DNAJB6

NET-GE enrichment

Term New enriched termICP valueGenes
protein folding (GO:0006457) -4.320.016CRYAB, DES, DNAJB6, BAG3
muscle system process (GO:0003012) -4.180.014CRYAB, DES, MYOT
cytoskeleton organization (GO:0007010) -3.220.009FLNC, DES, CRYAB, LDB3, DNAJB6, BAG3
muscle contraction (GO:0006936) -4.370.008FLNC, DES, CRYAB, MYOT
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.017CRYAB, MYOT, DES, FLNC, LDB3, DNAJB6, BAG3
cell part (GO:0044464) 0.117CRYAB, MYOT, DES, FLNC, LDB3, DNAJB6, BAG3
cytoplasmic part (GO:0044444) 0.827CRYAB, MYOT, DES, FLNC, LDB3, DNAJB6, BAG3
Z disc (GO:0030018) 5.117CRYAB, MYOT, DES, FLNC, LDB3, DNAJB6, BAG3
intracellular part (GO:0044424) 0.287CRYAB, MYOT, DES, FLNC, LDB3, DNAJB6, BAG3
organelle part (GO:0044422) 0.797CRYAB, MYOT, DES, FLNC, LDB3, DNAJB6, BAG3
contractile fiber part (GO:0044449) 4.537CRYAB, MYOT, DES, FLNC, LDB3, DNAJB6, BAG3
intracellular organelle (GO:0043229) 0.516FLNC, MYOT, DES, CRYAB, LDB3, DNAJB6
membrane (GO:0016020) 0.686CRYAB, MYOT, DES, FLNC, DNAJB6, BAG3
organelle (GO:0043226) 0.46FLNC, MYOT, DES, CRYAB, LDB3, DNAJB6
cytoskeleton (GO:0005856) 2.555MYOT, FLNC, DES, CRYAB, LDB3
cytosol (GO:0005829) 1.685FLNC, CRYAB, DES, DNAJB6, BAG3
non-membrane-bounded organelle (GO:0043228) 1.765MYOT, FLNC, DES, CRYAB, LDB3
intracellular non-membrane-bounded organelle (GO:0043232) 1.765MYOT, FLNC, DES, CRYAB, LDB3
plasma membrane (GO:0005886) 1.395MYOT, FLNC, DES, CRYAB, BAG3
intracellular organelle part (GO:0044446) 0.813CRYAB, DES, DNAJB6
sarcolemma (GO:0042383) 5.23FLNC, DES, MYOT
membrane-bounded organelle (GO:0043227) 0.473CRYAB, DES, DNAJB6
intracellular membrane-bounded organelle (GO:0043231) 0.62CRYAB, DNAJB6
cell projection (GO:0042995) 2.472BAG3, LDB3
extracellular organelle (GO:0043230) 1.892CRYAB, DES
vesicle (GO:0031982) 1.642CRYAB, DES
nucleus (GO:0005634) 1.072CRYAB, DNAJB6
anchoring junction (GO:0070161) 3.612FLNC, DES
membrane-bounded vesicle (GO:0031988) 1.712CRYAB, DES
nucleoplasm (GO:0005654) 1.892CRYAB, DNAJB6
cytoskeletal part (GO:0044430) 2.492CRYAB, DES
nuclear part (GO:0044428) 1.552CRYAB, DNAJB6
adherens junction (GO:0005912) 3.662FLNC, DES
contractile fiber (GO:0043292) 5.812CRYAB, DES
perinuclear region of cytoplasm (GO:0048471) 3.352DNAJB6, LDB3
extracellular vesicle (GO:1903561) 1.892CRYAB, DES
extracellular region part (GO:0044421) 1.572CRYAB, DES
cell junction (GO:0030054) 2.752FLNC, DES
extracellular exosome (GO:0070062) 1.892CRYAB, DES

NET-GE enrichment

Term New enriched termICP valueGenes
cytoskeleton (GO:0005856) -2.550.004MYOT, FLNC, CRYAB, LDB3
sarcolemma (GO:0042383) -5.20.005FLNC, DES, MYOT
cytosol (GO:0005829) -1.680.044DNAJB6, CRYAB, DES, FLNC, BAG3
fascia adherens (GO:0005916) NEW7.50.003FLNC, DES
Z disc (GO:0030018) -5.110.0CRYAB, MYOT, DES, FLNC, LDB3, DNAJB6, BAG3
contractile fiber part (GO:0044449) -4.530.0CRYAB, MYOT, DES, FLNC, LDB3, DNAJB6, BAG3