Disease table of MYOFIBRILLAR MYOPATHY OMIM ID: PS601419

Gene-disease associations table

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Gene	Associated with MYOFIBRILLAR MYOPATHY in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
BAG3	ClinVar, OMIM, HUMSAVAR	HGNC link	10q26.11	2	PS115200, PS601419
CRYAB	ClinVar, OMIM, HUMSAVAR	HGNC link	11q23.1	3	PS116200, PS115200, PS601419
DES	ClinVar, OMIM, HUMSAVAR	HGNC link	2q35	5	181400, PS253600, PS601419, 142340, PS115200
DNAJB6	ClinVar	HGNC link	7q36.3	2	PS159000, PS601419
FLNC	ClinVar, OMIM	HGNC link	7q32.1	2	614065, PS601419
LDB3	ClinVar, OMIM	HGNC link	10q23.2	4	PS604169, PS192600, PS601419, PS115200
MYOT	ClinVar, OMIM, HUMSAVAR	HGNC link	5q31.2	2	PS159000, PS601419

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Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

By region

Shared region	Number of genes associated with the disease	Genes associated with the disease
10q2	2	BAG3, LDB3
7q3	2	FLNC, DNAJB6

By arm

Shared arm	Number of genes associated with the disease	Genes associated with the disease
10q	2	BAG3, LDB3
7q	2	FLNC, DNAJB6

By chromosome

Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
7	2	FLNC, DNAJB6
10	2	BAG3, LDB3

Transcription Factors (TF) annotation from TRRUST

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regulated gene	associated to this disease	# TFs	TFs
BAG3	YES	2	GTF3A, HSF1
DES	YES	1	TRIM16
CRYAB	YES	4	TP53, HMGA1, TFAP2B, TFAP2A

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Interactions from BIOGRID - physical

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Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
BAG3	CRYAB	Yes	10	CRYAB, BCL2, HSPA4, BAX, CASP3, PRKAG3, HSPB1, HSPB8, PSMA3, BAG3
BAG3	DNAJB6	Yes	12	BAG1, HSPA8, HSPB8, EBNA-LP, HDAC6, HSPA1A, SOX2, BAG3, BAG2, MLF2, DYNLT1, STUB1
DES	CRYAB	Yes	2	CRYAB, HSPB1
MYOT	FLNC	Yes	3	TRIM55, MYOT, TRIM63
BAG3	DES	No	7	CRYAB, CAPN1, CCT7, HNRNPUL1, S100A1, HSPB1, YWHAQ
BAG3	LDB3	No	1	HSPA1A
BAG3	FLNC	No	8	PSMD3, EBNA-LP, MCM5, WNK1, FBXW11, TNFAIP1, SYNPO2, PSMD12
DES	MYOT	No	2	TRIM55, TRIM63
DES	FLNC	No	2	TRIM55, TRIM63
CRYAB	DNAJB6	No	4	HSPB8, TP53, APP, BAG3

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

Interactions from BIOGRID - genetic

Interactions from STRING

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Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
BAG3	DES	No	-	1	UBC
BAG3	DNAJB6	No	-	6	HSPA8, HSPA4, HSP90AA1, HSPA6, HSP90AB1, UBC
BAG3	FLNC	No	-	1	UBC
DES	DNAJB6	No	-	1	UBC
DES	LDB3	No	-	1	ACTN2
DES	FLNC	No	-	1	UBC
DNAJB6	LDB3	No	-	1	HSP90B1
DNAJB6	FLNC	No	-	1	UBC
LDB3	FLNC	No	-	3	MYOZ3, MYOZ2, MYOZ1

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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 term	IC	P value	Genes
Hypertrophic cardiomyopathy (HCM) (hsa05410)	NEW	6.21	0.003	CRYAB, DES, FLNC

REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

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REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Regulation of HSF1-mediated heat shock response	R-HSA-3371453	6.94	2	DNAJB6, BAG3
Cellular response to heat stress	R-HSA-3371556	6.59	2	DNAJB6, BAG3
Cellular responses to stress	R-HSA-2262752	4.56	2	DNAJB6, BAG3

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Regulation of HSF1-mediated heat shock response (R-HSA-3371453)	-	6.94	0.004	DNAJB6, BAG3
Cellular response to heat stress (R-HSA-3371556)	-	6.59	0.006	DNAJB6, BAG3
Cellular responses to stress (R-HSA-2262752)	-	4.56	0.028	DNAJB6, FLNC, CRYAB, BAG3

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GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
alpha-actinin binding (GO:0051393)	6.6	2	MYOT, LDB3
ATPase regulator activity (GO:0060590)	6.34	2	DNAJB6, BAG3
actinin binding (GO:0042805)	6.3	2	MYOT, LDB3
chaperone binding (GO:0051087)	5.34	2	DNAJB6, BAG3
unfolded protein binding (GO:0051082)	5.13	2	CRYAB, DNAJB6
nucleoside-triphosphatase regulator activity (GO:0060589)	3.92	2	DNAJB6, BAG3
actin binding (GO:0003779)	3.74	2	FLNC, MYOT
structural molecule activity (GO:0005198)	3.1	3	CRYAB, DES, MYOT
protein complex binding (GO:0032403)	3.09	2	FLNC, BAG3
cytoskeletal protein binding (GO:0008092)	3.02	5	MYOT, FLNC, DES, CRYAB, LDB3

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
structural constituent of muscle (GO:0008307)	NEW	6.02	0.042	DES, MYOT
chaperone binding (GO:0051087)	-	5.34	0.008	DNAJB6, BAG3
unfolded protein binding (GO:0051082)	-	5.13	0.029	CRYAB, DNAJB6
cytoskeletal protein binding (GO:0008092)	-	3.02	0.0	MYOT, FLNC, DES, CRYAB, LDB3

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GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
intermediate filament organization (GO:0045109)	6.73	2	DNAJB6, DES
intermediate filament cytoskeleton organization (GO:0045104)	6.04	2	DNAJB6, DES
intermediate filament-based process (GO:0045103)	6.02	2	DNAJB6, DES
regulation of cellular response to heat (GO:1900034)	5.41	3	CRYAB, DNAJB6, BAG3
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)	5.29	2	CRYAB, DNAJB6
negative regulation of cysteine-type endopeptidase activity (GO:2000117)	5.25	2	CRYAB, DNAJB6
regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	4.43	2	CRYAB, DNAJB6
muscle contraction (GO:0006936)	4.37	3	CRYAB, DES, MYOT
regulation of cysteine-type endopeptidase activity (GO:2000116)	4.37	2	CRYAB, DNAJB6
protein folding (GO:0006457)	4.32	3	CRYAB, DNAJB6, BAG3

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
muscle contraction (GO:0006936)	-	4.37	0.008	FLNC, DES, CRYAB, MYOT
protein folding (GO:0006457)	-	4.32	0.016	CRYAB, DES, DNAJB6, BAG3
muscle system process (GO:0003012)	-	4.18	0.014	CRYAB, DES, MYOT
cytoskeleton organization (GO:0007010)	-	3.22	0.009	FLNC, DES, CRYAB, LDB3, DNAJB6, BAG3

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GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
contractile fiber (GO:0043292)	5.81	2	CRYAB, DES
sarcolemma (GO:0042383)	5.2	3	FLNC, DES, MYOT
Z disc (GO:0030018)	5.11	7	CRYAB, MYOT, DES, FLNC, LDB3, DNAJB6, BAG3
contractile fiber part (GO:0044449)	4.53	7	CRYAB, MYOT, DES, FLNC, LDB3, DNAJB6, BAG3
adherens junction (GO:0005912)	3.66	2	FLNC, DES
anchoring junction (GO:0070161)	3.61	2	FLNC, DES
perinuclear region of cytoplasm (GO:0048471)	3.35	2	DNAJB6, LDB3
cell junction (GO:0030054)	2.75	2	FLNC, DES
cytoskeleton (GO:0005856)	2.55	5	MYOT, FLNC, DES, CRYAB, LDB3
cytoskeletal part (GO:0044430)	2.49	2	CRYAB, DES

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
fascia adherens (GO:0005916)	NEW	7.5	0.003	FLNC, DES
sarcolemma (GO:0042383)	-	5.2	0.005	FLNC, DES, MYOT
Z disc (GO:0030018)	-	5.11	0.0	CRYAB, MYOT, DES, FLNC, LDB3, DNAJB6, BAG3
contractile fiber part (GO:0044449)	-	4.53	0.0	CRYAB, MYOT, DES, FLNC, LDB3, DNAJB6, BAG3
cytoskeleton (GO:0005856)	-	2.55	0.004	MYOT, FLNC, CRYAB, LDB3
cytosol (GO:0005829)	-	1.68	0.044	DNAJB6, CRYAB, DES, FLNC, BAG3

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