Disease table of MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT OMIM ID: PS159000

Gene-disease associations table

Gene	Associated with MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
TNPO3	ClinVar, OMIM, HUMSAVAR	HGNC link	7q32.1	1	PS159000
HNRNPDL	ClinVar, OMIM, HUMSAVAR	HGNC link	4q21.22	1	PS159000
DNAJB6	ClinVar, OMIM, HUMSAVAR	HGNC link	7q36.3	2	PS159000, PS601419
MYOT	ClinVar, OMIM, HUMSAVAR	HGNC link	5q31.2	2	PS159000, PS601419
LMNA	ClinVar, OMIM, HUMSAVAR	HGNC link	1q22	12	212112, PS310300, PS248370, PS176670, PS118220, PS604772, PS159000, PS115200, 613205, 275210, 610140, PS151660
CAV3	ClinVar, OMIM, HUMSAVAR	HGNC link	3p25.3	7	PS192600, 272120, PS192500, 123320, 614321, PS159000, 606072

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
7q3	2	DNAJB6, TNPO3

By arm

Shared arm	Number of genes associated with the disease	Genes associated with the disease
7q	2	DNAJB6, TNPO3

By chromosome

Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
7	2	DNAJB6, TNPO3

Transcription Factors (TF) annotation from TRRUST

regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
CAV3	YES	1	RORA	0

Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
TNPO3	HNRNPDL	No	4	UNK, NTRK1, HNRNPH1, ELAVL1
TNPO3	DNAJB6	No	2	NTRK1, SOX2
TNPO3	LMNA	No	4	NTRK1, NXF1, STX5, VCP
TNPO3	CAV3	No	1	EGFR
HNRNPDL	DNAJB6	No	7	TARDBP, STIP1, MATR3, KSR1, NTRK1, CUL2, CUL3
HNRNPDL	LMNA	No	17	OBSL1, FN1, HNRNPA1, EED, DDX3X, PARK2, HNRNPR, RPA1, HNRNPA2B1, FUS, HNRNPM, CUL7, FBXO6, NTRK1, H2AFX, HNRNPA0, ITGA4
DNAJB6	MYOT	No	1	APP
DNAJB6	LMNA	No	4	NTRK1, MYC, DYNLT1, TP53
LMNA	CAV3	No	2	PCBP1, SENP1

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

Interactions from BIOGRID - genetic

Interactions from STRING

Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
TNPO3	DNAJB6	No	-	1	UBC

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

Interactions from CORUM

Gene1	Gene2	Direct Interaction	Complexes	Number of shared interactors	Shared genes in interaction
HNRNPDL	LMNA	No	-	1	HNRNPU

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

Interactions from CENSUS

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
HNRNPDL	LMNA	No	1	HNRNPM

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

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
Arrhythmogenic right ventricular cardiomyopathy (ARVC) (hsa05412)	NEW	6.32	0.033	CAV3, LMNA

REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)

GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GO	IC	Number of genes with the same GO	Genes
binding (GO:0005488)	0.18	6	MYOT, HNRNPDL, CAV3, TNPO3, LMNA, DNAJB6
protein binding (GO:0005515)	0.46	6	MYOT, HNRNPDL, CAV3, TNPO3, LMNA, DNAJB6
structural molecule activity (GO:0005198)	3.1	3	MYOT, CAV3, LMNA
cytoskeletal protein binding (GO:0008092)	3.02	2	MYOT, CAV3
organic cyclic compound binding (GO:0097159)	1.05	2	HNRNPDL, DNAJB6
enzyme binding (GO:0019899)	2.27	2	CAV3, LMNA
nucleic acid binding (GO:0003676)	1.44	2	HNRNPDL, DNAJB6
DNA binding (GO:0003677)	1.92	2	HNRNPDL, DNAJB6
molecular function regulator (GO:0098772)	2.51	2	DNAJB6, CAV3
heterocyclic compound binding (GO:1901363)	1.06	2	HNRNPDL, DNAJB6

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

Shared terms

GO	IC	Number of genes with the same GO	Genes
protein localization (GO:0008104)	2.36	4	TNPO3, DNAJB6, CAV3, LMNA
cellular macromolecule localization (GO:0070727)	3.1	4	TNPO3, DNAJB6, CAV3, LMNA
cellular process (GO:0009987)	0.26	4	HNRNPDL, DNAJB6, CAV3, LMNA
cellular protein localization (GO:0034613)	3.11	4	TNPO3, DNAJB6, CAV3, LMNA
regulation of cellular process (GO:0050794)	0.5	4	HNRNPDL, DNAJB6, CAV3, LMNA
biological regulation (GO:0065007)	0.39	4	HNRNPDL, DNAJB6, CAV3, LMNA
localization (GO:0051179)	1.4	4	TNPO3, DNAJB6, CAV3, LMNA
macromolecule localization (GO:0033036)	2.34	4	TNPO3, DNAJB6, CAV3, LMNA
regulation of biological process (GO:0050789)	0.45	4	HNRNPDL, DNAJB6, CAV3, LMNA
single-organism process (GO:0044699)	0.48	4	TNPO3, DNAJB6, CAV3, LMNA
cellular localization (GO:0051641)	2.32	4	TNPO3, DNAJB6, CAV3, LMNA
protein localization to nucleus (GO:0034504)	4.9	3	TNPO3, DNAJB6, LMNA
regulation of primary metabolic process (GO:0080090)	1.08	3	HNRNPDL, DNAJB6, CAV3
regulation of metabolic process (GO:0019222)	1.02	3	HNRNPDL, DNAJB6, CAV3
regulation of response to stimulus (GO:0048583)	1.54	3	DNAJB6, CAV3, LMNA
negative regulation of cellular component organization (GO:0051129)	3.35	3	DNAJB6, CAV3, LMNA
regulation of cellular component organization (GO:0051128)	2.01	3	DNAJB6, CAV3, LMNA
cellular component organization or biogenesis (GO:0071840)	1.22	3	DNAJB6, CAV3, LMNA
regulation of protein localization (GO:0032880)	2.88	3	DNAJB6, CAV3, LMNA
establishment of localization (GO:0051234)	1.48	3	TNPO3, CAV3, LMNA
cellular developmental process (GO:0048869)	1.82	3	DNAJB6, CAV3, LMNA
cellular component organization (GO:0016043)	1.24	3	DNAJB6, CAV3, LMNA
negative regulation of biological process (GO:0048519)	1.33	3	DNAJB6, CAV3, LMNA
developmental process (GO:0032502)	1.36	3	DNAJB6, CAV3, LMNA
regulation of macromolecule metabolic process (GO:0060255)	1.08	3	HNRNPDL, DNAJB6, CAV3
regulation of cellular metabolic process (GO:0031323)	1.07	3	HNRNPDL, DNAJB6, CAV3
transport (GO:0006810)	1.51	3	TNPO3, CAV3, LMNA
establishment of protein localization (GO:0045184)	2.53	3	TNPO3, CAV3, LMNA
single-organism transport (GO:0044765)	2.18	3	TNPO3, CAV3, LMNA
single-organism cellular process (GO:0044763)	0.65	3	DNAJB6, CAV3, LMNA
regulation of localization (GO:0032879)	1.94	3	DNAJB6, CAV3, LMNA
single-organism localization (GO:1902578)	2.09	3	TNPO3, CAV3, LMNA
organelle organization (GO:0006996)	2.02	3	DNAJB6, CAV3, LMNA
single-organism developmental process (GO:0044767)	1.49	3	DNAJB6, CAV3, LMNA
cytoskeleton organization (GO:0007010)	3.22	3	DNAJB6, CAV3, LMNA
anatomical structure development (GO:0048856)	1.58	3	DNAJB6, CAV3, LMNA
single-organism organelle organization (GO:1902589)	2.68	3	DNAJB6, CAV3, LMNA
protein localization to organelle (GO:0033365)	3.57	3	TNPO3, DNAJB6, LMNA
single-organism cellular localization (GO:1902580)	3.16	3	TNPO3, CAV3, LMNA
negative regulation of cellular process (GO:0048523)	1.41	3	DNAJB6, CAV3, LMNA
nuclear transport (GO:0051169)	4.2	2	TNPO3, LMNA
response to abiotic stimulus (GO:0009628)	2.8	2	CAV3, LMNA
negative regulation of response to stimulus (GO:0048585)	2.52	2	CAV3, LMNA
cell development (GO:0048468)	3.28	2	CAV3, LMNA
membrane organization (GO:0061024)	3.04	2	CAV3, LMNA
muscle system process (GO:0003012)	4.18	2	MYOT, CAV3
muscle organ development (GO:0007517)	4.98	2	CAV3, LMNA
negative regulation of macromolecule metabolic process (GO:0010605)	2.01	2	DNAJB6, CAV3
negative regulation of signal transduction (GO:0009968)	2.75	2	CAV3, LMNA
regulation of signal transduction (GO:0009966)	1.84	2	CAV3, LMNA
response to mechanical stimulus (GO:0009612)	4.41	2	CAV3, LMNA
animal organ development (GO:0048513)	2.53	2	CAV3, LMNA
negative regulation of molecular function (GO:0044092)	2.74	2	DNAJB6, CAV3
positive regulation of biological process (GO:0048518)	1.2	2	CAV3, LMNA
muscle contraction (GO:0006936)	4.37	2	MYOT, CAV3
negative regulation of cell death (GO:0060548)	2.95	2	DNAJB6, LMNA
protein import into nucleus (GO:0006606)	5.24	2	TNPO3, LMNA
regulation of proteolysis (GO:0030162)	3.2	2	DNAJB6, CAV3
regulation of RNA biosynthetic process (GO:2001141)	1.55	2	HNRNPDL, DNAJB6
system process (GO:0003008)	2.3	2	MYOT, CAV3
single organism reproductive process (GO:0044702)	2.73	2	DNAJB6, LMNA
response to external stimulus (GO:0009605)	2.55	2	CAV3, LMNA
negative regulation of organelle organization (GO:0010639)	4.07	2	CAV3, LMNA
negative regulation of metabolic process (GO:0009892)	1.93	2	DNAJB6, CAV3
microtubule cytoskeleton organization (GO:0000226)	4.13	2	CAV3, LMNA
regulation of apoptotic process (GO:0042981)	2.5	2	DNAJB6, LMNA
cellular macromolecule metabolic process (GO:0044260)	0.93	2	HNRNPDL, CAV3
intracellular protein transport (GO:0006886)	3.2	2	TNPO3, LMNA
regulation of molecular function (GO:0065009)	1.78	2	DNAJB6, CAV3
regulation of developmental process (GO:0050793)	2.1	2	CAV3, LMNA
regulation of catalytic activity (GO:0050790)	1.97	2	DNAJB6, CAV3
regulation of biosynthetic process (GO:0009889)	1.37	2	HNRNPDL, DNAJB6
single-organism membrane organization (GO:0044802)	3.19	2	CAV3, LMNA
metabolic process (GO:0008152)	0.58	2	HNRNPDL, CAV3
intracellular transport (GO:0046907)	2.67	2	TNPO3, LMNA
response to stimulus (GO:0050896)	1.22	2	CAV3, LMNA
regulation of cellular response to stress (GO:0080135)	3.4	2	DNAJB6, CAV3
regulation of transcription, DNA-templated (GO:0006355)	1.56	2	HNRNPDL, DNAJB6
regulation of macromolecule biosynthetic process (GO:0010556)	1.43	2	HNRNPDL, DNAJB6
regulation of multicellular organismal process (GO:0051239)	1.87	2	CAV3, LMNA
regulation of organelle organization (GO:0033043)	2.72	2	CAV3, LMNA
cell differentiation (GO:0030154)	2.14	2	DNAJB6, CAV3
regulation of cellular protein localization (GO:1903827)	3.43	2	CAV3, LMNA
negative regulation of signaling (GO:0023057)	2.65	2	CAV3, LMNA
negative regulation of cell communication (GO:0010648)	2.66	2	CAV3, LMNA
regulation of signaling (GO:0023051)	1.72	2	CAV3, LMNA
muscle structure development (GO:0061061)	4.96	2	CAV3, LMNA
regulation of cell communication (GO:0010646)	1.73	2	CAV3, LMNA
negative regulation of catalytic activity (GO:0043086)	3.0	2	DNAJB6, CAV3
negative regulation of protein metabolic process (GO:0051248)	2.82	2	DNAJB6, CAV3
negative regulation of multicellular organismal process (GO:0051241)	2.84	2	CAV3, LMNA
regulation of protein metabolic process (GO:0051246)	1.93	2	DNAJB6, CAV3
muscle cell development (GO:0055001)	5.29	2	CAV3, LMNA
striated muscle cell development (GO:0055002)	5.42	2	CAV3, LMNA
multicellular organismal process (GO:0032501)	1.45	2	MYOT, CAV3
cardiac cell development (GO:0055006)	6.33	2	CAV3, LMNA
single-organism nuclear import (GO:1902593)	5.24	2	TNPO3, LMNA
establishment of protein localization to organelle (GO:0072594)	3.92	2	TNPO3, LMNA
protein import (GO:0017038)	4.85	2	TNPO3, LMNA
regulation of nucleic acid-templated transcription (GO:1903506)	1.55	2	HNRNPDL, DNAJB6
positive regulation of cell differentiation (GO:0045597)	3.01	2	CAV3, LMNA
regulation of cell differentiation (GO:0045595)	2.42	2	CAV3, LMNA
negative regulation of developmental process (GO:0051093)	3.17	2	CAV3, LMNA
negative regulation of cellular protein metabolic process (GO:0032269)	2.88	2	DNAJB6, CAV3
regulation of cellular protein metabolic process (GO:0032268)	1.99	2	DNAJB6, CAV3
positive regulation of developmental process (GO:0051094)	2.77	2	CAV3, LMNA
regulation of RNA metabolic process (GO:0051252)	1.52	2	HNRNPDL, DNAJB6
macromolecule metabolic process (GO:0043170)	0.83	2	HNRNPDL, CAV3
regulation of response to stress (GO:0080134)	2.53	2	DNAJB6, CAV3
cardiac muscle cell development (GO:0055013)	6.4	2	CAV3, LMNA
regulation of cellular localization (GO:0060341)	3.03	2	CAV3, LMNA
regulation of cellular biosynthetic process (GO:0031326)	1.38	2	HNRNPDL, DNAJB6
negative regulation of cellular metabolic process (GO:0031324)	2.01	2	DNAJB6, CAV3
regulation of cell death (GO:0010941)	2.43	2	DNAJB6, LMNA
regulation of cellular macromolecule biosynthetic process (GO:2000112)	1.46	2	HNRNPDL, DNAJB6
organic substance metabolic process (GO:0071704)	0.63	2	HNRNPDL, CAV3
regulation of programmed cell death (GO:0043067)	2.49	2	DNAJB6, LMNA
negative regulation of apoptotic process (GO:0043066)	3.04	2	DNAJB6, LMNA
organic substance transport (GO:0071702)	2.15	2	TNPO3, LMNA
negative regulation of programmed cell death (GO:0043069)	3.02	2	DNAJB6, LMNA
regulation of gene expression (GO:0010468)	1.37	2	HNRNPDL, DNAJB6
regulation of nucleobase-containing compound metabolic process (GO:0019219)	1.43	2	HNRNPDL, DNAJB6
nucleocytoplasmic transport (GO:0006913)	4.23	2	TNPO3, LMNA
reproductive process (GO:0022414)	2.55	2	DNAJB6, LMNA
nuclear import (GO:0051170)	5.06	2	TNPO3, LMNA
regulation of nitrogen compound metabolic process (GO:0051171)	1.36	2	HNRNPDL, DNAJB6
establishment of localization in cell (GO:0051649)	2.47	2	TNPO3, LMNA
primary metabolic process (GO:0044238)	0.69	2	HNRNPDL, CAV3
microtubule-based process (GO:0007017)	3.54	2	CAV3, LMNA
cellular metabolic process (GO:0044237)	0.69	2	HNRNPDL, CAV3
regulation of cellular component biogenesis (GO:0044087)	3.08	2	DNAJB6, CAV3
regulation of multicellular organismal development (GO:2000026)	2.31	2	CAV3, LMNA
protein transport (GO:0015031)	2.62	2	TNPO3, LMNA
single-organism intracellular transport (GO:1902582)	3.59	2	TNPO3, LMNA
positive regulation of cellular process (GO:0048522)	1.3	2	CAV3, LMNA

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
cardiac muscle cell development (GO:0055013)	-	6.4	0.021	CAV3, LMNA
cardiac cell development (GO:0055006)	-	6.33	0.024	CAV3, LMNA

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

Shared terms

GO	IC	Number of genes with the same GO	Genes
cytoplasm (GO:0005737)	1.01	6	MYOT, HNRNPDL, CAV3, TNPO3, LMNA, DNAJB6
cell part (GO:0044464)	0.11	6	MYOT, HNRNPDL, CAV3, TNPO3, LMNA, DNAJB6
intracellular organelle (GO:0043229)	0.51	6	MYOT, HNRNPDL, CAV3, TNPO3, LMNA, DNAJB6
intracellular part (GO:0044424)	0.28	6	MYOT, HNRNPDL, CAV3, TNPO3, LMNA, DNAJB6
organelle (GO:0043226)	0.4	6	MYOT, HNRNPDL, CAV3, TNPO3, LMNA, DNAJB6
organelle part (GO:0044422)	0.79	6	MYOT, HNRNPDL, CAV3, TNPO3, LMNA, DNAJB6
intracellular organelle part (GO:0044446)	0.81	5	TNPO3, HNRNPDL, DNAJB6, CAV3, LMNA
membrane (GO:0016020)	0.68	5	TNPO3, CAV3, DNAJB6, MYOT, LMNA
membrane-bounded organelle (GO:0043227)	0.47	5	TNPO3, HNRNPDL, DNAJB6, CAV3, LMNA
intracellular membrane-bounded organelle (GO:0043231)	0.6	5	TNPO3, HNRNPDL, DNAJB6, CAV3, LMNA
nucleus (GO:0005634)	1.07	4	TNPO3, HNRNPDL, DNAJB6, LMNA
nuclear part (GO:0044428)	1.55	4	TNPO3, HNRNPDL, DNAJB6, LMNA
cytoplasmic part (GO:0044444)	0.82	4	MYOT, DNAJB6, CAV3, LMNA
nucleoplasm (GO:0005654)	1.89	3	HNRNPDL, DNAJB6, LMNA
cytosol (GO:0005829)	1.68	3	DNAJB6, CAV3, LMNA
organelle membrane (GO:0031090)	1.97	3	TNPO3, CAV3, LMNA
Z disc (GO:0030018)	5.11	3	DNAJB6, CAV3, MYOT
contractile fiber part (GO:0044449)	4.53	3	DNAJB6, MYOT, CAV3
sarcolemma (GO:0042383)	5.2	2	MYOT, CAV3
vesicle (GO:0031982)	1.64	2	HNRNPDL, CAV3
nuclear membrane (GO:0031965)	4.2	2	TNPO3, LMNA
plasma membrane (GO:0005886)	1.39	2	MYOT, CAV3
macromolecular complex (GO:0032991)	1.35	2	HNRNPDL, CAV3
perinuclear region of cytoplasm (GO:0048471)	3.35	2	DNAJB6, LMNA

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
sarcolemma (GO:0042383)	-	5.2	0.013	MYOT, CAV3
Z disc (GO:0030018)	-	5.11	0.0	MYOT, DNAJB6, CAV3, LMNA
contractile fiber part (GO:0044449)	-	4.53	0.001	CAV3, DNAJB6, MYOT, LMNA