Disease table of LEUKOENCEPHALOPATHY, MEGALENCEPHALIC OMIM ID: PS604004

Gene-disease associations table

GeneAssociated with LEUKOENCEPHALOPATHY, MEGALENCEPHALIC inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
MLC1ClinVar, OMIM, HUMSAVARHGNC link22q13.331PS604004
HEPACAMClinVar, OMIM, HUMSAVARHGNC link11q24.21PS604004

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
Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
HEPACAMMLC1yes, complexMLC1 interacts with ATP1B1 and it is part of a complex containing ATP1B1, TRPV4, AQP4 and HEPACAM. [UniProt]
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 / NET-GE enrichment (no shared terms)
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
protein localization (GO:0008104) 2.362HEPACAM, MLC1
cellular process (GO:0009987) 0.262HEPACAM, MLC1
localization (GO:0051179) 1.42HEPACAM, MLC1
biological regulation (GO:0065007) 0.392HEPACAM, MLC1
macromolecule localization (GO:0033036) 2.342HEPACAM, MLC1
regulation of biological process (GO:0050789) 0.452HEPACAM, MLC1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.012HEPACAM, MLC1
integral component of membrane (GO:0016021) 1.142HEPACAM, MLC1
membrane (GO:0016020) 0.682HEPACAM, MLC1
cell part (GO:0044464) 0.112HEPACAM, MLC1
intrinsic component of membrane (GO:0031224) 1.132HEPACAM, MLC1
cell-cell junction (GO:0005911) 3.852HEPACAM, MLC1
intracellular part (GO:0044424) 0.282HEPACAM, MLC1
membrane part (GO:0044425) 0.952HEPACAM, MLC1
cell junction (GO:0030054) 2.752HEPACAM, MLC1

NET-GE enrichment

Term New enriched termICP valueGenes
cell-cell junction (GO:0005911) -3.850.011HEPACAM, MLC1