Disease table of MEGALOBLASTIC ANEMIA 1 OMIM ID: 261100

Gene-disease associations table

GeneAssociated with MEGALOBLASTIC ANEMIA 1 inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
CUBNClinVar, OMIM, HUMSAVARHGNC link10p131261100
AMNClinVar, OMIM, HUMSAVARHGNC link14q32.321261100

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
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
CUBNAMNYesbinding2GIF, APOA1

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

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
AMNCUBNyes, they interactCUBN interaction with AMN controls its trafficking to the plasma membrane and facilitates endocytosis of ligands. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Metabolism of water-soluble vitamins and cofactorsR-HSA-1968496.542AMN, CUBN
Lipoprotein metabolismR-HSA-1748248.232AMN, CUBN
Metabolism of vitamins and cofactorsR-HSA-1968546.542AMN, CUBN
Lipid digestion, mobilization, and transportR-HSA-739237.22AMN, CUBN
Defects in cobalamin (B12) metabolismR-HSA-32964699.282AMN, CUBN
Diseases of metabolismR-HSA-56689146.572AMN, CUBN
Defective CUBN causes hereditary megaloblastic anemia 1R-HSA-335946311.42AMN, CUBN
Defective AMN causes hereditary megaloblastic anemia 1R-HSA-335946211.42AMN, CUBN
MetabolismR-HSA-14307282.342AMN, CUBN
HDL-mediated lipid transportR-HSA-1942239.082AMN, CUBN
Metabolism of lipids and lipoproteinsR-HSA-5568333.792AMN, CUBN
Defects in vitamin and cofactor metabolismR-HSA-32964828.522AMN, CUBN
Cobalamin (Cbl, vitamin B12) transport and metabolismR-HSA-1967418.732AMN, CUBN
DiseaseR-HSA-16436853.332AMN, CUBN

NET-GE enrichment

Term New enriched termICP valueGenes
Defects in vitamin and cofactor metabolism (R-HSA-3296482) -8.520.0AMN, CUBN
Lipoprotein metabolism (R-HSA-174824) -8.230.0AMN, CUBN
Metabolism of vitamins and cofactors (R-HSA-196854) -6.540.002AMN, CUBN
HDL-mediated lipid transport (R-HSA-194223) -9.080.0AMN, CUBN
Defective CUBN causes hereditary megaloblastic anemia 1 (R-HSA-3359463) -11.40.0AMN, CUBN
Diseases of metabolism (R-HSA-5668914) -6.570.005AMN, CUBN
Defects in cobalamin (B12) metabolism (R-HSA-3296469) -9.280.0AMN, CUBN
Defective AMN causes hereditary megaloblastic anemia 1 (R-HSA-3359462) -11.40.0AMN, CUBN
Lipid digestion, mobilization, and transport (R-HSA-73923) -7.20.002AMN, CUBN
Metabolism of water-soluble vitamins and cofactors (R-HSA-196849) -6.540.002AMN, CUBN
Cobalamin (Cbl, vitamin B12) transport and metabolism (R-HSA-196741) -8.730.0AMN, CUBN
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.182AMN, CUBN
protein binding (GO:0005515) 0.462AMN, CUBN
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein localization (GO:0008104) 2.362AMN, CUBN
cobalamin transport (GO:0015889) 7.652AMN, CUBN
cobalamin metabolic process (GO:0009235) 6.682AMN, CUBN
nitrogen compound metabolic process (GO:0006807) 1.132AMN, CUBN
small molecule metabolic process (GO:0044281) 2.382AMN, CUBN
single-organism process (GO:0044699) 0.482AMN, CUBN
single-organism metabolic process (GO:0044710) 1.632AMN, CUBN
vitamin transport (GO:0051180) 6.22AMN, CUBN
nitrogen compound transport (GO:0071705) 3.542AMN, CUBN
organic substance metabolic process (GO:0071704) 0.632AMN, CUBN
tetrapyrrole metabolic process (GO:0033013) 5.652AMN, CUBN
organic cyclic compound metabolic process (GO:1901360) 1.262AMN, CUBN
organic substance transport (GO:0071702) 2.152AMN, CUBN
macromolecule localization (GO:0033036) 2.342AMN, CUBN
water-soluble vitamin metabolic process (GO:0006767) 5.292AMN, CUBN
vitamin metabolic process (GO:0006766) 4.972AMN, CUBN
transport (GO:0006810) 1.512AMN, CUBN
cellular aromatic compound metabolic process (GO:0006725) 1.32AMN, CUBN
establishment of protein localization (GO:0045184) 2.532AMN, CUBN
single-organism transport (GO:0044765) 2.182AMN, CUBN
single-organism cellular process (GO:0044763) 0.652AMN, CUBN
metabolic process (GO:0008152) 0.582AMN, CUBN
endocytosis (GO:0006897) 3.692AMN, CUBN
establishment of localization (GO:0051234) 1.482AMN, CUBN
localization (GO:0051179) 1.42AMN, CUBN
single-organism localization (GO:1902578) 2.092AMN, CUBN
heterocycle metabolic process (GO:0046483) 1.312AMN, CUBN
organonitrogen compound metabolic process (GO:1901564) 2.322AMN, CUBN
vesicle-mediated transport (GO:0016192) 2.722AMN, CUBN
receptor-mediated endocytosis (GO:0006898) 4.312AMN, CUBN
cellular metabolic process (GO:0044237) 0.692AMN, CUBN
macromolecule metabolic process (GO:0043170) 0.832AMN, CUBN
protein transport (GO:0015031) 2.622AMN, CUBN
cellular process (GO:0009987) 0.262AMN, CUBN
lipoprotein metabolic process (GO:0042157) 5.822AMN, CUBN

NET-GE enrichment

Term New enriched termICP valueGenes
water-soluble vitamin metabolic process (GO:0006767) -5.290.002AMN, CUBN
cobalamin metabolic process (GO:0009235) -6.680.0AMN, CUBN
endocytosis (GO:0006897) -3.690.021AMN, CUBN
cobalamin transport (GO:0015889) -7.650.0AMN, CUBN
receptor-mediated endocytosis (GO:0006898) -4.310.005AMN, CUBN
nitrogen compound transport (GO:0071705) -3.540.042AMN, CUBN
vitamin metabolic process (GO:0006766) -4.970.003AMN, CUBN
tetrapyrrole metabolic process (GO:0033013) -5.650.004AMN, CUBN
lipoprotein metabolic process (GO:0042157) -5.820.002AMN, CUBN
vitamin transport (GO:0051180) -6.20.001AMN, CUBN
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
plasma membrane region (GO:0098590) 2.972AMN, CUBN
endocytic vesicle (GO:0030139) 5.042AMN, CUBN
intracellular organelle (GO:0043229) 0.512AMN, CUBN
clathrin-coated pit (GO:0005905) 5.642AMN, CUBN
vacuolar membrane (GO:0005774) 3.452AMN, CUBN
membrane-bounded organelle (GO:0043227) 0.472AMN, CUBN
organelle (GO:0043226) 0.42AMN, CUBN
endosome membrane (GO:0010008) 3.832AMN, CUBN
apical part of cell (GO:0045177) 5.342AMN, CUBN
vesicle (GO:0031982) 1.642AMN, CUBN
cytoplasmic, membrane-bounded vesicle (GO:0016023) 3.122AMN, CUBN
cytoplasmic vesicle (GO:0031410) 2.872AMN, CUBN
whole membrane (GO:0098805) 2.852AMN, CUBN
membrane (GO:0016020) 0.682AMN, CUBN
membrane-bounded vesicle (GO:0031988) 1.712AMN, CUBN
vacuolar part (GO:0044437) 3.262AMN, CUBN
plasma membrane part (GO:0044459) 1.952AMN, CUBN
apical plasma membrane (GO:0016324) 4.132AMN, CUBN
bounding membrane of organelle (GO:0098588) 2.392AMN, CUBN
membrane region (GO:0098589) 3.952AMN, CUBN
intracellular vesicle (GO:0097708) 2.862AMN, CUBN
plasma membrane (GO:0005886) 1.392AMN, CUBN
extracellular vesicle (GO:1903561) 1.892AMN, CUBN
organelle membrane (GO:0031090) 1.972AMN, CUBN
extracellular organelle (GO:0043230) 1.892AMN, CUBN
intracellular membrane-bounded organelle (GO:0043231) 0.62AMN, CUBN
extracellular exosome (GO:0070062) 1.892AMN, CUBN
cell part (GO:0044464) 0.112AMN, CUBN
intracellular organelle part (GO:0044446) 0.812AMN, CUBN
vacuole (GO:0005773) 2.922AMN, CUBN
cytoplasmic part (GO:0044444) 0.822AMN, CUBN
endosomal part (GO:0044440) 3.732AMN, CUBN
intracellular part (GO:0044424) 0.282AMN, CUBN
membrane part (GO:0044425) 0.952AMN, CUBN
endosome (GO:0005768) 3.252AMN, CUBN
extracellular region part (GO:0044421) 1.572AMN, CUBN
organelle part (GO:0044422) 0.792AMN, CUBN

NET-GE enrichment

Term New enriched termICP valueGenes
plasma membrane region (GO:0098590) -2.970.024AMN, CUBN
apical plasma membrane (GO:0016324) -4.130.008AMN, CUBN
endocytic vesicle (GO:0030139) -5.040.001AMN, CUBN
endosomal part (GO:0044440) -3.730.024AMN, CUBN
endosome membrane (GO:0010008) -3.830.022AMN, CUBN