Disease table of METHYLMALONIC ACIDURIA, CBLB TYPE OMIM ID: 251110

Gene-disease associations table

GeneAssociated with METHYLMALONIC ACIDURIA, CBLB TYPE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
MMAAClinVarHGNC link4q31.212251110, 251100
MMABClinVar, OMIM, HUMSAVARHGNC link12q24.111251110

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
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
Defects in vitamin and cofactor metabolismR-HSA-32964828.522MMAB, MMAA
Metabolism of vitamins and cofactorsR-HSA-1968546.542MMAB, MMAA
Diseases of metabolismR-HSA-56689146.572MMAB, MMAA
Defects in cobalamin (B12) metabolismR-HSA-32964699.282MMAB, MMAA
MetabolismR-HSA-14307282.342MMAB, MMAA
Metabolism of water-soluble vitamins and cofactorsR-HSA-1968496.542MMAB, MMAA
Cobalamin (Cbl, vitamin B12) transport and metabolismR-HSA-1967418.732MMAB, MMAA
DiseaseR-HSA-16436853.332MMAB, MMAA

NET-GE enrichment

Term New enriched termICP valueGenes
Defects in vitamin and cofactor metabolism (R-HSA-3296482) -8.520.0MMAB, MMAA
Metabolism of vitamins and cofactors (R-HSA-196854) -6.540.004MMAB, MMAA
Diseases of metabolism (R-HSA-5668914) -6.570.005MMAB, MMAA
Defects in cobalamin (B12) metabolism (R-HSA-3296469) -9.280.0MMAB, MMAA
Metabolism of water-soluble vitamins and cofactors (R-HSA-196849) -6.540.004MMAB, MMAA
Cobalamin (Cbl, vitamin B12) transport and metabolism (R-HSA-196741) -8.730.0MMAB, MMAA
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
purine ribonucleoside triphosphate binding (GO:0035639) 2.222MMAB, MMAA
carbohydrate derivative binding (GO:0097367) 2.032MMAB, MMAA
nucleotide binding (GO:0000166) 1.962MMAB, MMAA
small molecule binding (GO:0036094) 1.892MMAB, MMAA
catalytic activity (GO:0003824) 1.052MMAB, MMAA
purine ribonucleoside binding (GO:0032550) 2.222MMAB, MMAA
ribonucleotide binding (GO:0032553) 2.192MMAB, MMAA
binding (GO:0005488) 0.182MMAB, MMAA
purine nucleoside binding (GO:0001883) 2.222MMAB, MMAA
ribonucleoside binding (GO:0032549) 2.222MMAB, MMAA
purine ribonucleotide binding (GO:0032555) 2.22MMAB, MMAA
purine nucleotide binding (GO:0017076) 2.192MMAB, MMAA
organic cyclic compound binding (GO:0097159) 1.052MMAB, MMAA
heterocyclic compound binding (GO:1901363) 1.062MMAB, MMAA
nucleoside phosphate binding (GO:1901265) 1.962MMAB, MMAA
nucleoside binding (GO:0001882) 2.212MMAB, MMAA
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cobalamin biosynthetic process (GO:0009236) 8.632MMAB, MMAA
cobalamin metabolic process (GO:0009235) 6.682MMAB, MMAA
cellular biosynthetic process (GO:0044249) 1.372MMAB, MMAA
cellular nitrogen compound metabolic process (GO:0034641) 1.222MMAB, MMAA
nitrogen compound metabolic process (GO:0006807) 1.132MMAB, MMAA
small molecule metabolic process (GO:0044281) 2.382MMAB, MMAA
small molecule biosynthetic process (GO:0044283) 3.792MMAB, MMAA
organic cyclic compound biosynthetic process (GO:1901362) 1.662MMAB, MMAA
organic cyclic compound metabolic process (GO:1901360) 1.262MMAB, MMAA
organic substance biosynthetic process (GO:1901576) 1.342MMAB, MMAA
single-organism metabolic process (GO:0044710) 1.632MMAB, MMAA
single-organism biosynthetic process (GO:0044711) 2.82MMAB, MMAA
organic substance metabolic process (GO:0071704) 0.632MMAB, MMAA
tetrapyrrole biosynthetic process (GO:0033014) 6.362MMAB, MMAA
tetrapyrrole metabolic process (GO:0033013) 5.652MMAB, MMAA
single-organism process (GO:0044699) 0.482MMAB, MMAA
heterocycle biosynthetic process (GO:0018130) 1.72MMAB, MMAA
water-soluble vitamin metabolic process (GO:0006767) 5.292MMAB, MMAA
vitamin metabolic process (GO:0006766) 4.972MMAB, MMAA
cellular process (GO:0009987) 0.262MMAB, MMAA
cellular aromatic compound metabolic process (GO:0006725) 1.32MMAB, MMAA
biosynthetic process (GO:0009058) 1.322MMAB, MMAA
vitamin biosynthetic process (GO:0009110) 7.022MMAB, MMAA
single-organism cellular process (GO:0044763) 0.652MMAB, MMAA
metabolic process (GO:0008152) 0.582MMAB, MMAA
organonitrogen compound metabolic process (GO:1901564) 2.322MMAB, MMAA
heterocycle metabolic process (GO:0046483) 1.312MMAB, MMAA
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592MMAB, MMAA
organonitrogen compound biosynthetic process (GO:1901566) 2.852MMAB, MMAA
water-soluble vitamin biosynthetic process (GO:0042364) 7.532MMAB, MMAA
cellular metabolic process (GO:0044237) 0.692MMAB, MMAA
aromatic compound biosynthetic process (GO:0019438) 1.72MMAB, MMAA

NET-GE enrichment

Term New enriched termICP valueGenes
water-soluble vitamin metabolic process (GO:0006767) -5.290.001MMAB, MMAA
vitamin metabolic process (GO:0006766) -4.970.011MMAB, MMAA
cobalamin biosynthetic process (GO:0009236) -8.630.0MMAB, MMAA
cobalamin metabolic process (GO:0009235) -6.680.0MMAB, MMAA
water-soluble vitamin biosynthetic process (GO:0042364) -7.530.0MMAB, MMAA
vitamin biosynthetic process (GO:0009110) -7.020.0MMAB, MMAA
tetrapyrrole metabolic process (GO:0033013) -5.650.002MMAB, MMAA
tetrapyrrole biosynthetic process (GO:0033014) -6.360.0MMAB, MMAA
small molecule biosynthetic process (GO:0044283) -3.790.028MMAB, MMAA
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.62MMAB, MMAA
organelle lumen (GO:0043233) 3.052MMAB, MMAA
cell part (GO:0044464) 0.112MMAB, MMAA
cytoplasmic part (GO:0044444) 0.822MMAB, MMAA
mitochondrion (GO:0005739) 2.422MMAB, MMAA
intracellular organelle part (GO:0044446) 0.812MMAB, MMAA
intracellular organelle lumen (GO:0070013) 3.052MMAB, MMAA
intracellular organelle (GO:0043229) 0.512MMAB, MMAA
membrane-enclosed lumen (GO:0031974) 3.052MMAB, MMAA
mitochondrial matrix (GO:0005759) 4.032MMAB, MMAA
intracellular part (GO:0044424) 0.282MMAB, MMAA
membrane-bounded organelle (GO:0043227) 0.472MMAB, MMAA
organelle (GO:0043226) 0.42MMAB, MMAA
organelle part (GO:0044422) 0.792MMAB, MMAA
mitochondrial part (GO:0044429) 2.922MMAB, MMAA

NET-GE enrichment

Term New enriched termICP valueGenes
mitochondrial matrix (GO:0005759) -4.030.007MMAB, MMAA
intracellular organelle lumen (GO:0070013) -3.050.015MMAB, MMAA
mitochondrial part (GO:0044429) -2.920.031MMAB, MMAA
membrane-enclosed lumen (GO:0031974) -3.050.021MMAB, MMAA
organelle lumen (GO:0043233) -3.050.018MMAB, MMAA