Disease table of EMERY-DREIFUSS MUSCULAR DYSTROPHY OMIM ID: PS310300

Gene-disease associations table

GeneAssociated with EMERY-DREIFUSS MUSCULAR DYSTROPHY inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
EMDClinVar, OMIM, HUMSAVARHGNC linkXq281PS310300
FHL1ClinVar, OMIM, HUMSAVARHGNC linkXq26.34PS310300, 300718, 300717, 300695
SYNE1ClinVar, OMIM, HUMSAVARHGNC link6q25.22PS310300, 610743
LMNAClinVar, OMIM, HUMSAVARHGNC link1q2212212112, PS310300, PS248370, PS176670, PS118220, PS604772, PS159000, PS115200, 613205, 275210, 610140, PS151660
SYNE2ClinVar, OMIM, HUMSAVARHGNC link14q23.21PS310300
TMEM43ClinVar, OMIM, HUMSAVARHGNC link3p25.12PS310300, PS107970

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
Xq22FHL1, EMD
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
Xq2FHL1, EMD
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
X2FHL1, EMD
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
FHL1YES2TLX1, HOXD130
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
EMDFHL1No4UBC, EWSR1, ESR1, LMNA
EMDSYNE1Yes9OBSL1, RNF2, EMD, MCM2, SYNE1, NUP35, SUZ12, LMNA, NTRK1
EMDLMNAYes28SYNE1, MDC1, CCDC8, NXF1, LMNB1, LIMK2, PCGF2, MCM2, VCAM1, FBXO6, BANF1, OBSL1, CTNNB1, IRAK1, PRKDC, TRIM28, EGF, MOV10, CENPE, EMD, FYCO1, XRCC6, FASN, LMNA, ILK, NTRK1, YWHAQ, CUL7
EMDSYNE2No4UBC, OBSL1, CDC37, CUL7
EMDTMEM43No8BMPR1A, UBAC2, TCTN2, TCTN3, KTN1, CFTR, NTRK1, FAF2
FHL1SYNE1No1LMNA
FHL1LMNAYes3EED, USP15, LMNA
FHL1SYNE2No1UBC
SYNE1LMNAYes8OBSL1, CDC5L, EMD, MCM2, SYNE1, PPME1, LMNA, NTRK1
SYNE1SYNE2No5GAN, SUN1, OBSL1, SUN2, TERF2
SYNE1TMEM43No2NTRK1, IFI16
LMNASYNE2No5PML, SIRT7, OBSL1, SUPT5H, CUL7
LMNATMEM43No1NTRK1

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
FHL1SYNE2No-1UBC
FHL1TMEM43No-1UBC
SYNE1SYNE2Yesbinding20STAG3, SYCP3, TERF2, STAG1, POT1, LMNB1, TINF2, ACD, SMC1B, STAG2, SMC3, TERF2IP, HIST3H3, SUN1, REC8, SYCP2, SYNE3, RAD21, SUN2, TERF1
SYNE2TMEM43No-1UBC

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

Interactions from CORUM
Gene1Gene2Direct InteractionComplexesNumber of shared interactorsShared genes in interaction
EMDLMNAYesEmerin architectural complex;Emerin complex 2425SPTAN1, HIST1H3H, RBL2, HIST1H3B, C1QBP, LMNB1, HIST1H3A, HIST1H3E, MCM2, RB1, SAP130, HIST1H3F, HIST1H3D, BANF2, HIST1H3A; HIST1H3B; HIST1H3C; HIST1H3D; HIST1H3E; HIST1H3F; HIST1H3G; HIST1H3H; HIST1H3I; HIST1H3J, MCM6, HIST1H3J, HIST1H3I, HIST1H3G, MCM4, NMI, ACTB, HNRNPU, HIST1H3C, HIST1H1A

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

Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Hypertrophic cardiomyopathy (HCM)hsa054106.212EMD, LMNA
Arrhythmogenic right ventricular cardiomyopathy (ARVC)hsa054126.322EMD, LMNA
Dilated cardiomyopathyhsa054146.082EMD, LMNA

NET-GE enrichment

Term New enriched termICP valueGenes
Hypertrophic cardiomyopathy (HCM) (hsa05410) -6.210.026EMD, LMNA
Arrhythmogenic right ventricular cardiomyopathy (ARVC) (hsa05412) -6.320.017EMD, LMNA
Dilated cardiomyopathy (hsa05414) -6.080.032EMD, LMNA
Cardiovascular diseasesNEW5.060.005EMD, LMNA
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Cell CycleR-HSA-16401703.894EMD, SYNE1, SYNE2, LMNA
MeiosisR-HSA-15006206.593SYNE1, SYNE2, LMNA
Meiotic synapsisR-HSA-12216327.183SYNE1, LMNA, SYNE2
Depolymerisation of the Nuclear LaminaR-HSA-44199699.082EMD, LMNA
Mitotic Metaphase and AnaphaseR-HSA-25553965.452EMD, LMNA
Initiation of Nuclear Envelope ReformationR-HSA-29953839.282EMD, LMNA
M PhaseR-HSA-688864.872EMD, LMNA
Cell Cycle, MitoticR-HSA-692784.162EMD, LMNA
Mitotic AnaphaseR-HSA-688825.462EMD, LMNA
Clearance of Nuclear Envelope Membranes from ChromatinR-HSA-29939139.812EMD, LMNA
Nuclear Envelope ReassemblyR-HSA-29954109.282EMD, LMNA
Nuclear Envelope BreakdownR-HSA-29807667.342EMD, LMNA
Mitotic ProphaseR-HSA-688756.272EMD, LMNA

NET-GE enrichment

Term New enriched termICP valueGenes
Depolymerisation of the Nuclear Lamina (R-HSA-4419969) -9.080.001EMD, LMNA
Initiation of Nuclear Envelope Reformation (R-HSA-2995383) -9.280.0EMD, LMNA
Meiosis (R-HSA-1500620) -6.590.0SYNE1, SYNE2, LMNA
Meiotic synapsis (R-HSA-1221632) -7.180.0SYNE1, LMNA, SYNE2
Clearance of Nuclear Envelope Membranes from Chromatin (R-HSA-2993913) -9.810.0EMD, LMNA
Cell Cycle (R-HSA-1640170) -3.890.0EMD, SYNE1, SYNE2, LMNA
Nuclear Envelope Reassembly (R-HSA-2995410) -9.280.0EMD, LMNA
Nuclear Envelope Breakdown (R-HSA-2980766) -7.340.005EMD, LMNA
Mitotic Prophase (R-HSA-68875) -6.270.023EMD, LMNA
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.186FHL1, EMD, SYNE1, SYNE2, TMEM43, LMNA
protein binding (GO:0005515) 0.466FHL1, EMD, SYNE1, SYNE2, TMEM43, LMNA
actin binding (GO:0003779) 3.743EMD, SYNE1, SYNE2
cytoskeletal protein binding (GO:0008092) 3.023EMD, SYNE1, SYNE2
protein complex binding (GO:0032403) 3.092SYNE1, SYNE2
macromolecular complex binding (GO:0044877) 2.612SYNE1, SYNE2
actin filament binding (GO:0051015) 4.932SYNE1, SYNE2

NET-GE enrichment

Term New enriched termICP valueGenes
actin binding (GO:0003779) -3.740.002EMD, SYNE1, SYNE2, LMNA
actin filament binding (GO:0051015) -4.930.001SYNE1, SYNE2, LMNA
cytoskeletal protein binding (GO:0008092) -3.020.001EMD, SYNE1, FHL1, SYNE2, LMNA
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.266FHL1, EMD, SYNE1, SYNE2, TMEM43, LMNA
single-organism cellular process (GO:0044763) 0.656LMNA, EMD, SYNE1, SYNE2, TMEM43, FHL1
single-organism process (GO:0044699) 0.486LMNA, EMD, SYNE1, SYNE2, TMEM43, FHL1
biological regulation (GO:0065007) 0.395EMD, SYNE1, FHL1, SYNE2, LMNA
cellular component organization (GO:0016043) 1.245EMD, TMEM43, SYNE1, SYNE2, LMNA
cellular component organization or biogenesis (GO:0071840) 1.225EMD, TMEM43, SYNE1, LMNA, SYNE2
cellular developmental process (GO:0048869) 1.824EMD, SYNE1, FHL1, LMNA
regulation of cellular process (GO:0050794) 0.54EMD, FHL1, SYNE2, LMNA
membrane organization (GO:0061024) 3.044EMD, TMEM43, SYNE2, LMNA
single-organism membrane organization (GO:0044802) 3.194EMD, TMEM43, LMNA, SYNE2
positive regulation of biological process (GO:0048518) 1.24EMD, FHL1, SYNE2, LMNA
regulation of localization (GO:0032879) 1.944EMD, FHL1, SYNE2, LMNA
regulation of biological process (GO:0050789) 0.454EMD, SYNE2, FHL1, LMNA
developmental process (GO:0032502) 1.363EMD, FHL1, LMNA
organelle organization (GO:0006996) 2.023SYNE1, LMNA, SYNE2
muscle organ development (GO:0007517) 4.983EMD, FHL1, LMNA
establishment of localization (GO:0051234) 1.483SYNE1, LMNA, SYNE2
cytoskeleton organization (GO:0007010) 3.223SYNE1, LMNA, SYNE2
anatomical structure development (GO:0048856) 1.583EMD, FHL1, LMNA
cell differentiation (GO:0030154) 2.143EMD, SYNE1, FHL1
nuclear envelope organization (GO:0006998) 5.453EMD, SYNE2, LMNA
single-organism developmental process (GO:0044767) 1.493EMD, FHL1, LMNA
single-organism organelle organization (GO:1902589) 2.683SYNE1, LMNA, SYNE2
animal organ development (GO:0048513) 2.533EMD, FHL1, LMNA
negative regulation of cellular process (GO:0048523) 1.413EMD, FHL1, LMNA
establishment of localization in cell (GO:0051649) 2.473SYNE1, LMNA, SYNE2
muscle structure development (GO:0061061) 4.963EMD, FHL1, LMNA
negative regulation of biological process (GO:0048519) 1.333EMD, FHL1, LMNA
regulation of biological quality (GO:0065008) 1.683SYNE1, FHL1, SYNE2
localization (GO:0051179) 1.43SYNE1, SYNE2, LMNA
single-organism localization (GO:1902578) 2.093SYNE1, LMNA, SYNE2
cellular localization (GO:0051641) 2.323SYNE1, LMNA, SYNE2
protein localization to nucleus (GO:0034504) 4.92LMNA, SYNE2
protein localization (GO:0008104) 2.362SYNE2, LMNA
regulation of cellular localization (GO:0060341) 3.032EMD, LMNA
regulation of transport (GO:0051049) 2.242EMD, FHL1
regulation of response to stimulus (GO:0048583) 1.542EMD, LMNA
mitotic cell cycle process (GO:1903047) 3.122EMD, LMNA
regulation of cellular component organization (GO:0051128) 2.012FHL1, LMNA
regulation of cellular protein localization (GO:1903827) 3.432EMD, LMNA
establishment or maintenance of cell polarity (GO:0007163) 5.02LMNA, SYNE2
cell cycle process (GO:0022402) 2.752EMD, LMNA
cellular response to chemical stimulus (GO:0070887) 2.572EMD, LMNA
regulation of signaling (GO:0023051) 1.722EMD, LMNA
regulation of cell communication (GO:0010646) 1.732EMD, LMNA
maintenance of location in cell (GO:0051651) 5.132SYNE1, SYNE2
regulation of protein localization (GO:0032880) 2.882EMD, LMNA
cellular response to stimulus (GO:0051716) 1.972EMD, LMNA
establishment of organelle localization (GO:0051656) 4.152SYNE1, SYNE2
cellular macromolecule localization (GO:0070727) 3.12SYNE2, LMNA
regulation of signal transduction (GO:0009966) 1.842EMD, LMNA
nucleus localization (GO:0051647) 6.682SYNE1, SYNE2
nuclear envelope disassembly (GO:0051081) 5.882EMD, LMNA
regulation of locomotion (GO:0040012) 3.122SYNE2, LMNA
nucleus organization (GO:0006997) 5.492SYNE1, LMNA
mitotic nuclear envelope reassembly (GO:0007084) 7.432EMD, LMNA
macromolecule localization (GO:0033036) 2.342SYNE2, LMNA
cellular protein localization (GO:0034613) 3.112LMNA, SYNE2
regulation of cell migration (GO:0030334) 3.232LMNA, SYNE2
maintenance of protein location in cell (GO:0032507) 5.272SYNE1, SYNE2
positive regulation of transport (GO:0051050) 2.92EMD, FHL1
multicellular organismal process (GO:0032501) 1.452EMD, FHL1
transport (GO:0006810) 1.512LMNA, SYNE2
nuclear envelope reassembly (GO:0031468) 6.92EMD, LMNA
maintenance of protein location (GO:0045185) 5.212SYNE1, SYNE2
response to chemical (GO:0042221) 1.982EMD, LMNA
cytoskeletal anchoring at nuclear membrane (GO:0090286) 7.652SYNE1, SYNE2
cellular component disassembly (GO:0022411) 3.522EMD, LMNA
mitotic nuclear envelope disassembly (GO:0007077) 5.942EMD, LMNA
maintenance of location (GO:0051235) 4.772SYNE1, SYNE2
organelle localization (GO:0051640) 3.942SYNE1, SYNE2
regulation of protein localization to nucleus (GO:1900180) 4.342EMD, LMNA
membrane disassembly (GO:0030397) 5.882EMD, LMNA
regulation of cellular component movement (GO:0051270) 3.082SYNE2, LMNA
intracellular transport (GO:0046907) 2.672LMNA, SYNE2
response to stimulus (GO:0050896) 1.222EMD, LMNA
establishment of nucleus localization (GO:0040023) 7.092SYNE1, SYNE2
single-organism transport (GO:0044765) 2.182LMNA, SYNE2
regulation of cell motility (GO:2000145) 3.162LMNA, SYNE2
protein localization to organelle (GO:0033365) 3.572LMNA, SYNE2
single-organism intracellular transport (GO:1902582) 3.592LMNA, SYNE2
single-organism cellular localization (GO:1902580) 3.162SYNE2, LMNA
positive regulation of cellular process (GO:0048522) 1.32SYNE2, LMNA

NET-GE enrichment

Term New enriched termICP valueGenes
protein localization to nucleus (GO:0034504) -4.90.011LMNA, SYNE2
membrane disassembly (GO:0030397) -5.880.019EMD, LMNA
cytoskeletal anchoring at nuclear membrane (GO:0090286) -7.650.0SYNE1, SYNE2
maintenance of protein location in cell (GO:0032507) -5.270.014SYNE1, LMNA, SYNE2
establishment of nucleus localization (GO:0040023) -7.090.001SYNE1, SYNE2
single-organism membrane organization (GO:0044802) -3.190.001EMD, TMEM43, LMNA, SYNE2
nuclear envelope disassembly (GO:0051081) -5.880.019EMD, LMNA
nuclear envelope organization (GO:0006998) -5.450.0EMD, SYNE2, LMNA
nuclear envelope reassembly (GO:0031468) -6.90.001EMD, LMNA
maintenance of protein location (GO:0045185) -5.210.031SYNE1, SYNE2, LMNA
muscle organ development (GO:0007517) -4.980.001EMD, FHL1, LMNA
membrane organization (GO:0061024) -3.040.002EMD, TMEM43, SYNE2, LMNA
mitotic nuclear envelope reassembly (GO:0007084) -7.430.001EMD, LMNA
muscle structure development (GO:0061061) -4.960.001EMD, FHL1, LMNA
mitotic nuclear envelope disassembly (GO:0007077) -5.940.017EMD, LMNA
maintenance of location in cell (GO:0051651) -5.130.021SYNE1, SYNE2, LMNA
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.66LMNA, EMD, SYNE1, SYNE2, TMEM43, FHL1
nucleus (GO:0005634) 1.076LMNA, EMD, SYNE1, SYNE2, TMEM43, FHL1
membrane (GO:0016020) 0.686LMNA, EMD, SYNE1, SYNE2, TMEM43, FHL1
cell part (GO:0044464) 0.116LMNA, EMD, SYNE1, SYNE2, TMEM43, FHL1
cytoplasmic part (GO:0044444) 0.826FHL1, EMD, SYNE1, SYNE2, TMEM43, LMNA
intracellular organelle (GO:0043229) 0.516LMNA, EMD, SYNE1, SYNE2, TMEM43, FHL1
intracellular part (GO:0044424) 0.286LMNA, EMD, SYNE1, SYNE2, TMEM43, FHL1
membrane-bounded organelle (GO:0043227) 0.476FHL1, EMD, SYNE1, SYNE2, TMEM43, LMNA
organelle (GO:0043226) 0.46LMNA, EMD, SYNE1, SYNE2, TMEM43, FHL1
intracellular organelle part (GO:0044446) 0.815EMD, TMEM43, SYNE1, LMNA, SYNE2
nuclear part (GO:0044428) 1.555EMD, TMEM43, SYNE1, LMNA, SYNE2
nuclear membrane (GO:0031965) 4.25EMD, TMEM43, SYNE1, SYNE2, LMNA
organelle membrane (GO:0031090) 1.975EMD, TMEM43, SYNE1, LMNA, SYNE2
organelle part (GO:0044422) 0.795EMD, TMEM43, SYNE1, LMNA, SYNE2
cytoplasm (GO:0005737) 1.014SYNE1, FHL1, SYNE2, LMNA
integral component of membrane (GO:0016021) 1.144EMD, TMEM43, SYNE1, SYNE2
nuclear envelope (GO:0005635) 4.724EMD, SYNE1, SYNE2, LMNA
organelle envelope (GO:0031967) 4.634EMD, SYNE1, LMNA, SYNE2
envelope (GO:0031975) 4.624EMD, SYNE1, LMNA, SYNE2
membrane part (GO:0044425) 0.954EMD, TMEM43, SYNE1, SYNE2
intrinsic component of membrane (GO:0031224) 1.134EMD, TMEM43, SYNE1, SYNE2
organelle outer membrane (GO:0031968) 4.633EMD, SYNE1, SYNE2
endoplasmic reticulum (GO:0005783) 2.563EMD, TMEM43, SYNE2
bounding membrane of organelle (GO:0098588) 2.393EMD, SYNE1, SYNE2
nuclear outer membrane (GO:0005640) 6.673EMD, SYNE1, SYNE2
outer membrane (GO:0019867) 4.63EMD, SYNE1, SYNE2
nucleoplasm (GO:0005654) 1.893SYNE1, LMNA, SYNE2
whole membrane (GO:0098805) 2.853EMD, SYNE1, SYNE2
plasma membrane region (GO:0098590) 2.972SYNE1, SYNE2
supramolecular fiber (GO:0099512) 3.312EMD, LMNA
polymeric cytoskeletal fiber (GO:0099513) 3.312EMD, LMNA
membrane-enclosed lumen (GO:0031974) 3.052TMEM43, SYNE2
non-membrane-bounded organelle (GO:0043228) 1.762SYNE1, SYNE2
cell-substrate adherens junction (GO:0005924) 3.832FHL1, SYNE2
focal adhesion (GO:0005925) 3.832FHL1, SYNE2
cell junction (GO:0030054) 2.752FHL1, SYNE2
cell-substrate junction (GO:0030055) 3.822FHL1, SYNE2
cytoskeleton (GO:0005856) 2.552SYNE1, SYNE2
nuclear inner membrane (GO:0005637) 6.022EMD, TMEM43
endoplasmic reticulum part (GO:0044432) 2.732TMEM43, SYNE2
cytoskeletal part (GO:0044430) 2.492EMD, LMNA
plasma membrane part (GO:0044459) 1.952SYNE1, SYNE2
Golgi apparatus (GO:0005794) 2.72TMEM43, SYNE1
anchoring junction (GO:0070161) 3.612FHL1, SYNE2
LINC complex (GO:0034993) 7.862SYNE1, SYNE2
adherens junction (GO:0005912) 3.662FHL1, SYNE2
plasma membrane (GO:0005886) 1.392FHL1, SYNE2
protein complex (GO:0043234) 1.512SYNE1, SYNE2
macromolecular complex (GO:0032991) 1.352SYNE1, SYNE2
intracellular non-membrane-bounded organelle (GO:0043232) 1.762SYNE1, SYNE2
organelle lumen (GO:0043233) 3.052TMEM43, SYNE2
cytosol (GO:0005829) 1.682FHL1, LMNA
organelle inner membrane (GO:0019866) 3.562EMD, TMEM43
intracellular organelle lumen (GO:0070013) 3.052TMEM43, SYNE2
contractile fiber part (GO:0044449) 4.532SYNE1, SYNE2

NET-GE enrichment

Term New enriched termICP valueGenes
organelle outer membrane (GO:0031968) -4.630.009EMD, SYNE1, SYNE2
nuclear outer membrane (GO:0005640) -6.670.0EMD, SYNE1, SYNE2
nuclear inner membrane (GO:0005637) -6.020.01EMD, TMEM43
nuclear envelope (GO:0005635) -4.720.0EMD, SYNE1, SYNE2, LMNA
nuclear membrane (GO:0031965) -4.20.0EMD, TMEM43, SYNE1, SYNE2, LMNA
outer membrane (GO:0019867) -4.60.01EMD, SYNE1, SYNE2
inclusion body (GO:0016234) NEW5.550.031LMNA, SYNE2
aggresome (GO:0016235) NEW6.250.007SYNE2, LMNA
SUN-KASH complex (GO:0034993) -7.860.0SYNE1, SYNE2
organelle envelope (GO:0031967) -4.630.0EMD, SYNE1, LMNA, SYNE2
nuclear part (GO:0044428) -1.550.02EMD, TMEM43, SYNE1, LMNA, SYNE2
envelope (GO:0031975) -4.620.0EMD, SYNE1, LMNA, SYNE2
contractile fiber part (GO:0044449) -4.530.04SYNE1, SYNE2, LMNA