Disease table of CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC OMIM ID: PS192600

Gene-disease associations table

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Gene	Associated with CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
ACTC1	ClinVar, OMIM, HUMSAVAR	HGNC link	15q14	4	PS108800, PS192600, PS115200, PS604169
ACTN2	ClinVar, OMIM, HUMSAVAR	HGNC link	1q43	2	PS192600, PS115200
CALR3	ClinVar, OMIM, HUMSAVAR	HGNC link	19p13.11	1	PS192600
CAV3	ClinVar, OMIM, HUMSAVAR	HGNC link	3p25.3	7	PS192600, 272120, PS192500, 123320, 614321, PS159000, 606072
CSRP3	ClinVar, OMIM, HUMSAVAR	HGNC link	11p15.1	2	PS192600, PS115200
JPH2	ClinVar, OMIM, HUMSAVAR	HGNC link	20q13.12	2	PS192600, 603829
LDB3	ClinVar, OMIM, HUMSAVAR	HGNC link	10q23.2	4	PS604169, PS192600, PS601419, PS115200
MYBPC3	ClinVar, OMIM, HUMSAVAR	HGNC link	11p11.2	4	PS604169, PS604772, PS115200, PS192600
MYH6	ClinVar, OMIM, HUMSAVAR	HGNC link	14q11.2	6	PS192600, 234750, PS108800, PS115200, 140500, PS608567
MYH7	ClinVar, OMIM, HUMSAVAR	HGNC link	14q11.2	9	PS192600, 160500, PS604169, PS115200, 603829, 255310, 255160, 608358, 181430

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Relations among genes:

Tandem repeat annotations from DGD

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Common tandem group	Number of genes in this tandem group associated to this disease	Genes in this tandem group associated to this disease
Group 626	2	MYH6, MYH7

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Cytogenetic band analysis

By sub-band

Shared sub_band	Number of genes associated with the disease	Genes associated with the disease
14q11.2	2	MYH6, MYH7

By band

Shared band	Number of genes associated with the disease	Genes associated with the disease
14q11	2	MYH6, MYH7
3p21	2	MYL3, TNNC1

By region

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Shared region	Number of genes associated with the disease	Genes associated with the disease
10q2	3	MYPN, LDB3, VCL
11p1	2	CSRP3, MYBPC3
14q1	2	MYH6, MYH7
20q1	2	JPH2, MYLK2
3p2	3	MYL3, CAV3, TNNC1

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By arm

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Shared arm	Number of genes associated with the disease	Genes associated with the disease
10q	3	MYPN, LDB3, VCL
11p	2	CSRP3, MYBPC3
14q	2	MYH6, MYH7
15q	2	ACTC1, TPM1
1q	2	TNNT2, ACTN2
20q	2	JPH2, MYLK2
3p	3	MYL3, CAV3, TNNC1

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By chromosome

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Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
1	3	NEXN, TNNT2, ACTN2
3	3	MYL3, CAV3, TNNC1
10	3	MYPN, LDB3, VCL
11	2	CSRP3, MYBPC3
14	2	MYH6, MYH7
15	2	ACTC1, TPM1
19	2	CALR3, TNNI3
20	2	JPH2, MYLK2

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Transcription Factors (TF) annotation from TRRUST

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regulated gene	associated to this disease	# TFs	TFs
ACTC1	YES	1	YY1
MYL2	YES	1	ANKRD1
TNNI3	YES	2	SP1, MEF2A
CAV3	YES	1	RORA
MYH6	YES	3	JARID2, TBX5, ELK3

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Interactions from BIOGRID - physical

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Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
ACTC1	TPM1	Yes	4	SP1, TPM1, PAN2, ACTA2
JPH2	CAV3	Yes	0
TNNI3	TNNT2	Yes	1	TNNC1
TNNI3	TNNC1	Yes	2	TNNT2, TRIM63
TNNT2	TPM1	Yes	2	TPM1, TNNI1
TNNT2	TNNC1	Yes	2	TNNI3, TNNI1
MYH6	TPM1	Yes	4	ACTN2, TPM1, TNNI1, TPM2
MYH6	ACTN2	Yes	4	ACTN2, TPM1, TNNI1, TPM2
MYH7	ACTN2	Yes	6	ACTN2, DISC1, TNNI1, ACTN3, YWHAQ, TPM2
TPM1	ACTN2	Yes	14	ACTN2, TPM1, MYH2, ACTN1, YWHAQ, MYH4, TNNI1, MYH6, MYH1, TPM3, TPM4, ACTN4, MYH8, TPM2

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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
ACTC1	MYL2	Yes	binding	18	TPM1, MYH6, MYH7, TNNC1, MYH8, MYH1, MYH3, TNNI3, MYH9, MYL4, TNNC2, TPM3, MYH14, MYH10, MYH7B, TPM4, TPM2, MYL3
ACTC1	MYL3	Yes	binding	21	TPM2, TPM1, MYH11, MYH6, MYH2, TNNC1, MYH9, MYL4, TPM3, MYH1, MYH3, TNNI3, UBC, MYH14, TNNC2, MYH8, MYH7, MYH10, MYH4, TPM4, MYL2
ACTC1	TNNI3	Yes	binding	18	MYL3, TPM1, MYH11, MYH6, MYH7, MYL2, MYH8, MYH14, MYH3, TNNC1, MYH1, TNNC2, TPM3, MYO5B, TPM4, MYL4, TPM2, MYO5C
ACTC1	MYH6	Yes	binding	21	TPM4, TPM1, MYH11, MYH7, MYH2, TNNC1, MYL4, TPM2, TPM3, MYH14, MYH3, TNNI3, MYH9, TNNC2, MYH8, MYH1, UBC, MYH10, MYH4, MYL2, MYL3
ACTC1	MYH7	Yes	binding	18	TPM1, MYH11, MYL3, MYL2, TPM2, MYH4, MYH2, MYH14, MYH3, TNNI3, TNNC1, MYH1, TNNC2, TPM3, MYH6, MYH10, MYH8, MYH9
ACTC1	TPM1	Yes	binding	20	TPM2, CFL1, MYH11, MYH6, MYH7, TNNC1, MYL4, TPM3, MYH1, MYH3, TNNI3, MYH14, MYL2, UBC, DSTN, TPM4, ACTN4, MYH8, TNNC2, MYL3
ACTC1	TNNC1	Yes	activation	17	TPM1, MYO5B, MYL3, MYH7, MYH8, TPM3, TNNI3, MYH14, TNNC2, MYH3, MYH6, UBC, MYL2, TPM4, MYL4, TPM2, MYO5C
MYL2	MYL3	Yes	binding	32	TPM1, TMOD1, TNNI1, MYL4, MYH9, VIM, TPM3, MYH1, MYBPC1, TPM2, MYL1, TNNT2, MYH7, MYBPC2, MYH14, NEB, TNNC2, MYH6, MYH8, TNNT1, ACTC1, TNNI3, MYBPC3, MYH10, ACTN2, TNNC1, DES, TNNT3, MYH3, TTN, TNNI2, TPM4
MYL2	TNNI3	Yes	binding	30	TPM1, TMOD1, TNNI1, MYL4, TNNT3, VIM, TPM3, MYH1, MYBPC1, TPM2, MYL1, TNNT2, MYH7, MYBPC2, MYH14, NEB, TNNC2, MYH6, MYH8, TNNT1, ACTC1, MYBPC3, MYL3, ACTN2, TNNC1, DES, MYH3, TTN, TNNI2, TPM4
MYL2	TNNT2	Yes	binding	28	TPM1, TMOD1, DES, MYL4, TNNT3, VIM, MYL3, MYBPC1, TPM2, MYL1, MYH3, MYBPC2, MYH14, NEB, TNNC2, MYH6, MYH8, TNNT1, TNNI3, MYH7, MYBPC3, ACTN2, TTN, TNNI1, TPM3, TNNC1, TNNI2, TPM4

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

Interactions from CORUM

Interactions from CENSUS

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
ACTC1	TPM1	Yes	1	ACTA2

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

Interactions from PDB

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Gene1	Gene2	Interaction	Number of common interactors	Common genes in interaction
TNNI3	TNNT2	Yes	3	TNNC1, TNNI3, TNNT2
TNNI3	TNNC1	Yes	3	TNNC1, TNNI3, TNNT2
TNNT2	TNNC1	Yes	3	TNNC1, TNNI3, TNNT2
TTN	TCAP	Yes	2	TTN, TCAP

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

Interactions from manually curated literature

KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

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KEGG term	KEGG term ID	IC	Number of genes with the same term	Genes
Viral myocarditis	hsa05416	6.45	2	MYH7, MYH6
Cardiac muscle contraction	hsa04260	6.34	9	TPM1, TNNT2, MYH7, TNNC1, ACTC1, MYH6, TNNI3, MYL3, MYL2
Bacterial invasion of epithelial cells	hsa05100	6.34	2	CAV3, VCL
Adherens junction	hsa04520	6.26	2	ACTN2, VCL
Hypertrophic cardiomyopathy (HCM)	hsa05410	6.21	12	TPM1, TNNT2, MYL3, MYH7, TNNC1, ACTC1, PRKAG2, TNNI3, TTN, MYH6, MYBPC3, MYL2
Dilated cardiomyopathy	hsa05414	6.08	12	PLN, TPM1, TNNT2, MYH7, TNNC1, ACTC1, MYH6, TNNI3, TTN, MYL3, MYBPC3, MYL2
Amoebiasis	hsa05146	5.82	2	ACTN2, VCL
Thyroid hormone signaling pathway	hsa04919	5.82	2	PLN, MYH6
Leukocyte transendothelial migration	hsa04670	5.74	3	ACTN2, VCL, MYL2
Tight junction	hsa04530	5.53	4	ACTN2, MYL2, MYH7, MYH6

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Cardiac muscle contraction (hsa04260)	-	6.34	0.0	ACTN2, TPM1, TNNT2, MYH7, TNNC1, ACTC1, MYH6, TNNI3, MYL3, MYL2
Hypertrophic cardiomyopathy (HCM) (hsa05410)	-	6.21	0.0	ACTN2, TPM1, TNNT2, MYL3, MYH7, TNNC1, ACTC1, TTN, PRKAG2, TNNI3, CAV3, MYH6, MYBPC3, MYL2
Dilated cardiomyopathy (hsa05414)	-	6.08	0.0	ACTN2, PLN, TPM1, TNNT2, MYL3, MYH7, TNNC1, ACTC1, MYH6, TNNI3, TTN, CAV3, MYBPC3, MYL2
Leukocyte transendothelial migration (hsa04670)	-	5.74	0.003	ACTN2, TNNT2, VCL, MYH6, MYBPC3, MYL2
Tight junction (hsa04530)	-	5.53	0.021	ACTN2, MYH7, MYL2, MYH6
Adrenergic signaling in cardiomyocytes (hsa04261)	-	5.44	0.0	ACTN2, PLN, TPM1, TNNT2, MYL3, MYH7, TNNC1, ACTC1, MYH6, TNNI3, CAV3, MYL2
cGMP-PKG signaling pathway (hsa04022)	-	5.32	0.022	ACTN2, PLN, CSRP3, MYH7, CAV3, MYLK2
Calcium signaling pathway (hsa04020)	-	5.22	0.0	ACTN2, PLN, TPM1, TNNT2, TNNC1, MYLK2, CAV3, MYL2
Cardiovascular diseases	NEW	5.06	0.0	ACTN2, PLN, TPM1, TNNT2, MYL3, MYH7, TNNC1, ACTC1, PRKAG2, VCL, TNNI3, TTN, CAV3, MYH6, MYBPC3, MYL2
Focal adhesion (hsa04510)	-	4.92	0.001	ACTN2, TPM1, TNNT2, MYH6, MYLK2, CAV3, VCL, MYL2

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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
Smooth Muscle Contraction	R-HSA-445355	8.23	2	TPM1, VCL
Striated Muscle Contraction	R-HSA-390522	7.81	12	ACTN2, TPM1, TNNT2, TCAP, TNNC1, ACTC1, MYH6, TNNI3, TTN, MYL3, MYBPC3, MYL2
Muscle contraction	R-HSA-397014	6.96	14	ACTN2, TPM1, TNNT2, MYL3, TCAP, TTN, ACTC1, MYH6, TNNI3, TNNC1, CAV3, VCL, MYBPC3, MYL2
Translocation of GLUT4 to the plasma membrane	R-HSA-1445148	6.77	3	MYH7, MYH6, PRKAG2
Platelet degranulation	R-HSA-114608	6.68	3	ACTN2, TTN, VCL
Response to elevated platelet cytosolic Ca2+	R-HSA-76005	6.59	3	ACTN2, TTN, VCL
Membrane Trafficking	R-HSA-199991	5.26	3	MYH7, MYH6, PRKAG2
Platelet activation, signaling and aggregation	R-HSA-76002	5.15	3	ACTN2, TTN, VCL
GRB2 events in ERBB2 signaling	R-HSA-1963640	5.15	2	ACTN2, VCL
SOS-mediated signalling	R-HSA-112412	5.15	2	ACTN2, VCL

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Smooth Muscle Contraction (R-HSA-445355)	-	8.23	0.006	TPM1, MYH6, VCL
Striated Muscle Contraction (R-HSA-390522)	-	7.81	0.0	ACTN2, TPM1, TNNT2, TCAP, TNNC1, ACTC1, MYH6, TNNI3, TTN, MYL3, MYBPC3, MYL2
Muscle contraction (R-HSA-397014)	-	6.96	0.0	ACTN2, TPM1, TNNT2, MYL3, TCAP, TNNC1, ACTC1, TTN, VCL, TNNI3, CAV3, MYH6, MYBPC3, MYL2
Translocation of GLUT4 to the plasma membrane (R-HSA-1445148)	-	6.77	0.049	ACTN2, MYH7, MYH6, PRKAG2

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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
titin Z domain binding (GO:0070080)	9.05	2	ACTN2, TCAP
troponin C binding (GO:0030172)	8.64	2	TNNI3, TNNT2
FATZ binding (GO:0051373)	8.64	2	ACTN2, TCAP
troponin T binding (GO:0031014)	8.35	2	TNNI3, TNNC1
telethonin binding (GO:0031433)	8.13	3	TTN, MYOZ2, CSRP3
troponin I binding (GO:0031013)	8.13	2	TNNC1, TNNT2
muscle alpha-actinin binding (GO:0051371)	7.54	3	TTN, MYPN, LDB3
titin binding (GO:0031432)	7.25	3	ACTN2, MYBPC3, TCAP
myosin heavy chain binding (GO:0032036)	7.25	3	MYBPC3, MYL3, MYL2
actin-dependent ATPase activity (GO:0030898)	7.17	2	MYH7, MYH6

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
titin Z domain binding (GO:0070080)	-	9.05	0.0	ACTN2, TCAP
troponin C binding (GO:0030172)	-	8.64	0.002	TNNI3, TNNT2
FATZ binding (GO:0051373)	-	8.64	0.002	ACTN2, TCAP
troponin T binding (GO:0031014)	-	8.35	0.002	TNNI3, TNNC1
telethonin binding (GO:0031433)	-	8.13	0.0	ACTN2, TTN, MYOZ2, CSRP3, MYH6
troponin I binding (GO:0031013)	-	8.13	0.0	TNNI3, TNNC1, TNNT2
muscle alpha-actinin binding (GO:0051371)	-	7.54	0.0	ACTN2, TTN, VCL, MYPN, LDB3
titin binding (GO:0031432)	-	7.25	0.0	ACTN2, MYBPC3, MYPN, TCAP
myosin heavy chain binding (GO:0032036)	-	7.25	0.0	MYBPC3, MYL3, MYL2
actin-dependent ATPase activity (GO:0030898)	-	7.17	0.015	ACTN2, ACTC1, MYH7, MYH6

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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
regulation of muscle filament sliding speed (GO:0032972)	9.04	2	TNNC1, TNNT2
striated muscle myosin thick filament assembly (GO:0071688)	8.63	2	TTN, TCAP
sarcomerogenesis (GO:0048769)	8.63	2	TTN, TCAP
myosin filament assembly (GO:0031034)	8.63	2	TTN, TCAP
myosin filament organization (GO:0031033)	8.63	2	TTN, TCAP
skeletal muscle myosin thick filament assembly (GO:0030241)	8.63	2	TTN, TCAP
detection of muscle stretch (GO:0035995)	8.34	4	TTN, CSRP3, CAV3, TCAP
regulation of muscle filament sliding (GO:0032971)	8.34	4	TNNC1, MYBPC3, TNNT2, MYLK2
skeletal muscle thin filament assembly (GO:0030240)	8.12	3	TTN, ACTC1, TCAP
transition between fast and slow fiber (GO:0014883)	7.78	2	TNNC1, MYH7

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
striated muscle myosin thick filament assembly (GO:0071688)	-	8.63	0.004	TTN, MYBPC3, TCAP
sarcomerogenesis (GO:0048769)	-	8.63	0.004	TTN, TCAP
myosin filament organization (GO:0031033)	-	8.63	0.0	TTN, MYBPC3, TPM1, TCAP
myosin filament assembly (GO:0031034)	-	8.63	0.0	TTN, MYBPC3, TPM1, TCAP
skeletal muscle myosin thick filament assembly (GO:0030241)	-	8.63	0.004	TTN, MYBPC3, TCAP
regulation of purine nucleotide catabolic process (GO:0033121)	NEW	8.34	0.001	ACTN2, PLN, TPM1, TNNT2, MYL3, MYH7, TNNC1, VCL, TNNI3, CAV3, MYH6, MYBPC3
detection of muscle stretch (GO:0035995)	-	8.34	0.0	TTN, CSRP3, TCAP
regulation of nucleotide catabolic process (GO:0030811)	NEW	8.34	0.001	ACTN2, PLN, TPM1, TNNT2, MYL3, MYH7, TNNC1, VCL, TNNI3, CAV3, MYH6, MYBPC3
regulation of muscle filament sliding (GO:0032971)	-	8.34	0.0	TNNC1, MYBPC3, MYLK2
skeletal muscle thin filament assembly (GO:0030240)	-	8.12	0.0	TTN, ACTC1, TCAP

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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
troponin complex (GO:0005861)	7.72	3	TNNI3, TNNC1, TNNT2
striated muscle thin filament (GO:0005865)	7.4	2	TTN, TNNT2
myofilament (GO:0036379)	7.16	3	TTN, MYBPC3, TNNT2
A band (GO:0031672)	7.09	3	MYBPC3, MYL3, MYL2
pseudopodium (GO:0031143)	6.97	2	ACTN2, LDB3
muscle myosin complex (GO:0005859)	6.86	5	MYH7, TTN, MYBPC3, MYL3, MYH6
myosin filament (GO:0032982)	6.71	3	MYBPC3, MYH7, MYH6
I band (GO:0031674)	6.67	5	TTN, ACTC1, MYPN, TCAP, MYL3
myosin II complex (GO:0016460)	6.54	5	MYH7, TTN, MYBPC3, MYL3, MYH6
myofibril (GO:0030016)	6.14	6	TPM1, TNNT2, MYH7, MYH6, TNNI3, MYL2

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
troponin complex (GO:0005861)	-	7.72	0.0	TNNI3, TNNC1, TNNT2
striated muscle thin filament (GO:0005865)	-	7.4	0.021	TTN, TNNT2
myofilament (GO:0036379)	-	7.16	0.0	TTN, MYBPC3, TNNT2
A band (GO:0031672)	-	7.09	0.0	MYBPC3, CSRP3, MYL2, MYL3
pseudopodium (GO:0031143)	-	6.97	0.022	ACTN2, LDB3
muscle myosin complex (GO:0005859)	-	6.86	0.0	MYH7, MYBPC3, MYL3, MYH6
myosin filament (GO:0032982)	-	6.71	0.001	MYBPC3, MYH7, MYH6
I band (GO:0031674)	-	6.67	0.0	ACTN2, TPM1, TCAP, TTN, ACTC1, MYPN, MYL3
myosin II complex (GO:0016460)	-	6.54	0.0	MYBPC3, MYH7, MYH6, MYL3
myofibril (GO:0030016)	-	6.14	0.0	ACTN2, CAV3, MYBPC3, MYH6, MYL2

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