Gene-disease associations table

GeneAssociated with MYOPATHY, CENTRONUCLEAR, X-LINKED inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
MTM1ClinVar, OMIM, HUMSAVARHGNC linkXq281310400
DNM2ClinVarHGNC link19p13.24PS118220, PS253310, PS160150, 310400

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction

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

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

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
MetabolismR-HSA-14307282.342MTM1, DNM2
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
hydrolase activity (GO:0016787) 1.92MTM1, DNM2
catalytic activity (GO:0003824) 1.052MTM1, DNM2
macromolecular complex binding (GO:0044877) 2.612MTM1, DNM2
binding (GO:0005488) 0.182MTM1, DNM2
protein binding (GO:0005515) 0.462MTM1, DNM2
protein complex binding (GO:0032403) 3.092MTM1, DNM2
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
regulation of developmental growth (GO:0048638) 4.042MTM1, DNM2
protein localization (GO:0008104) 2.362MTM1, DNM2
regulation of primary metabolic process (GO:0080090) 1.082MTM1, DNM2
regulation of metabolic process (GO:0019222) 1.022MTM1, DNM2
regulation of organelle organization (GO:0033043) 2.722MTM1, DNM2
negative regulation of response to stimulus (GO:0048585) 2.522MTM1, DNM2
regulation of response to stimulus (GO:0048583) 1.542MTM1, DNM2
negative regulation of cellular component organization (GO:0051129) 3.352MTM1, DNM2
regulation of cellular component organization (GO:0051128) 2.012MTM1, DNM2
metabolic process (GO:0008152) 0.582MTM1, DNM2
negative regulation of signaling (GO:0023057) 2.652MTM1, DNM2
negative regulation of cell communication (GO:0010648) 2.662MTM1, DNM2
regulation of signaling (GO:0023051) 1.722MTM1, DNM2
regulation of cell communication (GO:0010646) 1.732MTM1, DNM2
regulation of biological process (GO:0050789) 0.452MTM1, DNM2
single-organism process (GO:0044699) 0.482MTM1, DNM2
single-organism metabolic process (GO:0044710) 1.632MTM1, DNM2
regulation of intracellular signal transduction (GO:1902531) 2.312MTM1, DNM2
cellular macromolecule metabolic process (GO:0044260) 0.932MTM1, DNM2
regulation of signal transduction (GO:0009966) 1.842MTM1, DNM2
cellular developmental process (GO:0048869) 1.822MTM1, DNM2
regulation of growth (GO:0040008) 3.262MTM1, DNM2
cellular component organization (GO:0016043) 1.242MTM1, DNM2
cellular component morphogenesis (GO:0032989) 3.52MTM1, DNM2
organic substance metabolic process (GO:0071704) 0.632MTM1, DNM2
biological regulation (GO:0065007) 0.392MTM1, DNM2
cellular component organization or biogenesis (GO:0071840) 1.222MTM1, DNM2
organic substance transport (GO:0071702) 2.152MTM1, DNM2
positive regulation of biological process (GO:0048518) 1.22MTM1, DNM2
negative regulation of biological process (GO:0048519) 1.332MTM1, DNM2
macromolecule localization (GO:0033036) 2.342MTM1, DNM2
developmental process (GO:0032502) 1.362MTM1, DNM2
cellular process (GO:0009987) 0.262MTM1, DNM2
regulation of developmental process (GO:0050793) 2.12MTM1, DNM2
regulation of cellular metabolic process (GO:0031323) 1.072MTM1, DNM2
transport (GO:0006810) 1.512MTM1, DNM2
regulation of cellular process (GO:0050794) 0.52MTM1, DNM2
single-organism developmental process (GO:0044767) 1.492MTM1, DNM2
cell part morphogenesis (GO:0032990) 3.992MTM1, DNM2
single-organism cellular process (GO:0044763) 0.652MTM1, DNM2
regulation of multicellular organismal process (GO:0051239) 1.872MTM1, DNM2
establishment of localization in cell (GO:0051649) 2.472MTM1, DNM2
establishment of localization (GO:0051234) 1.482MTM1, DNM2
localization (GO:0051179) 1.42MTM1, DNM2
organelle localization (GO:0051640) 3.942MTM1, DNM2
cellular localization (GO:0051641) 2.322MTM1, DNM2
establishment of protein localization (GO:0045184) 2.532MTM1, DNM2
negative regulation of signal transduction (GO:0009968) 2.752MTM1, DNM2
positive regulation of developmental process (GO:0051094) 2.772MTM1, DNM2
regulation of macromolecule metabolic process (GO:0060255) 1.082MTM1, DNM2
cellular metabolic process (GO:0044237) 0.692MTM1, DNM2
macromolecule metabolic process (GO:0043170) 0.832MTM1, DNM2
regulation of cellular component biogenesis (GO:0044087) 3.082MTM1, DNM2
anatomical structure morphogenesis (GO:0009653) 2.532MTM1, DNM2
regulation of multicellular organismal development (GO:2000026) 2.312MTM1, DNM2
protein transport (GO:0015031) 2.622MTM1, DNM2
negative regulation of cellular process (GO:0048523) 1.412MTM1, DNM2
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.012MTM1, DNM2
extracellular vesicle (GO:1903561) 1.892MTM1, DNM2
extracellular organelle (GO:0043230) 1.892MTM1, DNM2
intracellular membrane-bounded organelle (GO:0043231) 0.62MTM1, DNM2
endosome (GO:0005768) 3.252MTM1, DNM2
vacuole (GO:0005773) 2.922MTM1, DNM2
extracellular exosome (GO:0070062) 1.892MTM1, DNM2
cytosol (GO:0005829) 1.682MTM1, DNM2
membrane (GO:0016020) 0.682MTM1, DNM2
cell part (GO:0044464) 0.112MTM1, DNM2
cytoplasmic part (GO:0044444) 0.822MTM1, DNM2
membrane-bounded vesicle (GO:0031988) 1.712MTM1, DNM2
organelle (GO:0043226) 0.42MTM1, DNM2
intracellular organelle (GO:0043229) 0.512MTM1, DNM2
plasma membrane (GO:0005886) 1.392MTM1, DNM2
intracellular part (GO:0044424) 0.282MTM1, DNM2
cell projection (GO:0042995) 2.472MTM1, DNM2
membrane-bounded organelle (GO:0043227) 0.472MTM1, DNM2
extracellular region part (GO:0044421) 1.572MTM1, DNM2
organelle part (GO:0044422) 0.792MTM1, DNM2
vesicle (GO:0031982) 1.642MTM1, DNM2

NET-GE enrichment

Term New enriched termICP valueGenes
ruffle (GO:0001726) NEW5.280.015MTM1, DNM2