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

Gene-disease associations table

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Gene	Associated with METHYLMALONIC ACIDURIA, CBLB TYPE in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
MMAA	ClinVar	HGNC link	4q31.21	2	251110, 251100
MMAB	ClinVar, OMIM, HUMSAVAR	HGNC link	12q24.11	1	251110

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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

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REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Defects in cobalamin (B12) metabolism	R-HSA-3296469	9.28	2	MMAB, MMAA
Cobalamin (Cbl, vitamin B12) transport and metabolism	R-HSA-196741	8.73	2	MMAB, MMAA
Defects in vitamin and cofactor metabolism	R-HSA-3296482	8.52	2	MMAB, MMAA
Diseases of metabolism	R-HSA-5668914	6.57	2	MMAB, MMAA
Metabolism of vitamins and cofactors	R-HSA-196854	6.54	2	MMAB, MMAA
Metabolism of water-soluble vitamins and cofactors	R-HSA-196849	6.54	2	MMAB, MMAA
Disease	R-HSA-1643685	3.33	2	MMAB, MMAA
Metabolism	R-HSA-1430728	2.34	2	MMAB, MMAA

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Defects in cobalamin (B12) metabolism (R-HSA-3296469)	-	9.28	0.0	MMAB, MMAA
Cobalamin (Cbl, vitamin B12) transport and metabolism (R-HSA-196741)	-	8.73	0.0	MMAB, MMAA
Defects in vitamin and cofactor metabolism (R-HSA-3296482)	-	8.52	0.0	MMAB, MMAA
Diseases of metabolism (R-HSA-5668914)	-	6.57	0.005	MMAB, MMAA
Metabolism of vitamins and cofactors (R-HSA-196854)	-	6.54	0.004	MMAB, MMAA
Metabolism of water-soluble vitamins and cofactors (R-HSA-196849)	-	6.54	0.004	MMAB, MMAA

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

Shared terms

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GO	IC	Number of genes with the same GO	Genes
purine ribonucleoside triphosphate binding (GO:0035639)	2.22	2	MMAB, MMAA
purine ribonucleoside binding (GO:0032550)	2.22	2	MMAB, MMAA
purine nucleoside binding (GO:0001883)	2.22	2	MMAB, MMAA
ribonucleoside binding (GO:0032549)	2.22	2	MMAB, MMAA
nucleoside binding (GO:0001882)	2.21	2	MMAB, MMAA
purine ribonucleotide binding (GO:0032555)	2.2	2	MMAB, MMAA
ribonucleotide binding (GO:0032553)	2.19	2	MMAB, MMAA
purine nucleotide binding (GO:0017076)	2.19	2	MMAB, MMAA
carbohydrate derivative binding (GO:0097367)	2.03	2	MMAB, MMAA
nucleotide binding (GO:0000166)	1.96	2	MMAB, MMAA

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GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
cobalamin biosynthetic process (GO:0009236)	8.63	2	MMAB, MMAA
water-soluble vitamin biosynthetic process (GO:0042364)	7.53	2	MMAB, MMAA
vitamin biosynthetic process (GO:0009110)	7.02	2	MMAB, MMAA
cobalamin metabolic process (GO:0009235)	6.68	2	MMAB, MMAA
tetrapyrrole biosynthetic process (GO:0033014)	6.36	2	MMAB, MMAA
tetrapyrrole metabolic process (GO:0033013)	5.65	2	MMAB, MMAA
water-soluble vitamin metabolic process (GO:0006767)	5.29	2	MMAB, MMAA
vitamin metabolic process (GO:0006766)	4.97	2	MMAB, MMAA
small molecule biosynthetic process (GO:0044283)	3.79	2	MMAB, MMAA
organonitrogen compound biosynthetic process (GO:1901566)	2.85	2	MMAB, MMAA

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
cobalamin biosynthetic process (GO:0009236)	-	8.63	0.0	MMAB, MMAA
water-soluble vitamin biosynthetic process (GO:0042364)	-	7.53	0.0	MMAB, MMAA
vitamin biosynthetic process (GO:0009110)	-	7.02	0.0	MMAB, MMAA
cobalamin metabolic process (GO:0009235)	-	6.68	0.0	MMAB, MMAA
tetrapyrrole biosynthetic process (GO:0033014)	-	6.36	0.0	MMAB, MMAA
tetrapyrrole metabolic process (GO:0033013)	-	5.65	0.002	MMAB, MMAA
water-soluble vitamin metabolic process (GO:0006767)	-	5.29	0.001	MMAB, MMAA
vitamin metabolic process (GO:0006766)	-	4.97	0.011	MMAB, MMAA
small molecule biosynthetic process (GO:0044283)	-	3.79	0.028	MMAB, MMAA

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GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
mitochondrial matrix (GO:0005759)	4.03	2	MMAB, MMAA
organelle lumen (GO:0043233)	3.05	2	MMAB, MMAA
intracellular organelle lumen (GO:0070013)	3.05	2	MMAB, MMAA
membrane-enclosed lumen (GO:0031974)	3.05	2	MMAB, MMAA
mitochondrial part (GO:0044429)	2.92	2	MMAB, MMAA
mitochondrion (GO:0005739)	2.42	2	MMAB, MMAA
cytoplasmic part (GO:0044444)	0.82	2	MMAB, MMAA
intracellular organelle part (GO:0044446)	0.81	2	MMAB, MMAA
organelle part (GO:0044422)	0.79	2	MMAB, MMAA
intracellular membrane-bounded organelle (GO:0043231)	0.6	2	MMAB, MMAA

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
mitochondrial matrix (GO:0005759)	-	4.03	0.007	MMAB, MMAA
intracellular organelle lumen (GO:0070013)	-	3.05	0.015	MMAB, MMAA
membrane-enclosed lumen (GO:0031974)	-	3.05	0.021	MMAB, MMAA
organelle lumen (GO:0043233)	-	3.05	0.018	MMAB, MMAA
mitochondrial part (GO:0044429)	-	2.92	0.031	MMAB, MMAA

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