Disease table of MANDIBULOACRAL DYSPLASIA WITH LIPODYSTROPHY OMIM ID: PS248370

Gene-disease associations table

GeneAssociated with MANDIBULOACRAL DYSPLASIA WITH LIPODYSTROPHY inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
LMNAClinVar, OMIM, HUMSAVARHGNC link1q2212212112, PS310300, PS248370, PS176670, PS118220, PS604772, PS159000, PS115200, 613205, 275210, 610140, PS151660
ZMPSTE24ClinVar, OMIM, HUMSAVARHGNC link1p34.22275210, PS248370

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
12LMNA, ZMPSTE24
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
LMNAZMPSTE24No1MME

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
Gene1Gene2InteractionNumber of common interactorsCommon genes in interaction
LMNAZMPSTE24Yes2ZMPSTE24, LMNA

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

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.182ZMPSTE24, LMNA
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
nuclear envelope organization (GO:0006998) 5.452ZMPSTE24, LMNA
cellular process (GO:0009987) 0.262ZMPSTE24, LMNA
cellular component organization (GO:0016043) 1.242ZMPSTE24, LMNA
membrane organization (GO:0061024) 3.042ZMPSTE24, LMNA
single-organism cellular process (GO:0044763) 0.652ZMPSTE24, LMNA
cellular component organization or biogenesis (GO:0071840) 1.222ZMPSTE24, LMNA
single-organism membrane organization (GO:0044802) 3.192ZMPSTE24, LMNA
single-organism process (GO:0044699) 0.482ZMPSTE24, LMNA

NET-GE enrichment

Term New enriched termICP valueGenes
nuclear envelope organization (GO:0006998) -5.450.001ZMPSTE24, LMNA
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
organelle membrane (GO:0031090) 1.972ZMPSTE24, LMNA
cell part (GO:0044464) 0.112ZMPSTE24, LMNA
nucleus (GO:0005634) 1.072ZMPSTE24, LMNA
membrane (GO:0016020) 0.682ZMPSTE24, LMNA
nuclear membrane (GO:0031965) 4.22ZMPSTE24, LMNA
cytoplasmic part (GO:0044444) 0.822ZMPSTE24, LMNA
intracellular organelle part (GO:0044446) 0.812ZMPSTE24, LMNA
intracellular organelle (GO:0043229) 0.512ZMPSTE24, LMNA
nuclear part (GO:0044428) 1.552ZMPSTE24, LMNA
intracellular part (GO:0044424) 0.282ZMPSTE24, LMNA
membrane-bounded organelle (GO:0043227) 0.472ZMPSTE24, LMNA
organelle (GO:0043226) 0.42ZMPSTE24, LMNA
organelle part (GO:0044422) 0.792ZMPSTE24, LMNA
intracellular membrane-bounded organelle (GO:0043231) 0.62ZMPSTE24, LMNA