Disease table of MEGALOBLASTIC ANEMIA 1 OMIM ID: 261100

Gene-disease associations table

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Gene	Associated with MEGALOBLASTIC ANEMIA 1 in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
AMN	ClinVar, OMIM, HUMSAVAR	HGNC link	14q32.32	1	261100
CUBN	ClinVar, OMIM, HUMSAVAR	HGNC link	10p13	1	261100

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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

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Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
CUBN	AMN	Yes	binding	2	GIF, APOA1

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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

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Gene1	Gene2	Direct interaction	More information
AMN	CUBN	yes, they interact	CUBN interaction with AMN controls its trafficking to the plasma membrane and facilitates endocytosis of ligands. [UniProt]

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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
Defective CUBN causes hereditary megaloblastic anemia 1	R-HSA-3359463	11.4	2	AMN, CUBN
Defective AMN causes hereditary megaloblastic anemia 1	R-HSA-3359462	11.4	2	AMN, CUBN
Defects in cobalamin (B12) metabolism	R-HSA-3296469	9.28	2	AMN, CUBN
HDL-mediated lipid transport	R-HSA-194223	9.08	2	AMN, CUBN
Cobalamin (Cbl, vitamin B12) transport and metabolism	R-HSA-196741	8.73	2	AMN, CUBN
Defects in vitamin and cofactor metabolism	R-HSA-3296482	8.52	2	AMN, CUBN
Lipoprotein metabolism	R-HSA-174824	8.23	2	AMN, CUBN
Lipid digestion, mobilization, and transport	R-HSA-73923	7.2	2	AMN, CUBN
Diseases of metabolism	R-HSA-5668914	6.57	2	AMN, CUBN
Metabolism of water-soluble vitamins and cofactors	R-HSA-196849	6.54	2	AMN, CUBN

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Defective CUBN causes hereditary megaloblastic anemia 1 (R-HSA-3359463)	-	11.4	0.0	AMN, CUBN
Defective AMN causes hereditary megaloblastic anemia 1 (R-HSA-3359462)	-	11.4	0.0	AMN, CUBN
Defects in cobalamin (B12) metabolism (R-HSA-3296469)	-	9.28	0.0	AMN, CUBN
HDL-mediated lipid transport (R-HSA-194223)	-	9.08	0.0	AMN, CUBN
Cobalamin (Cbl, vitamin B12) transport and metabolism (R-HSA-196741)	-	8.73	0.0	AMN, CUBN
Defects in vitamin and cofactor metabolism (R-HSA-3296482)	-	8.52	0.0	AMN, CUBN
Lipoprotein metabolism (R-HSA-174824)	-	8.23	0.0	AMN, CUBN
Lipid digestion, mobilization, and transport (R-HSA-73923)	-	7.2	0.002	AMN, CUBN
Diseases of metabolism (R-HSA-5668914)	-	6.57	0.005	AMN, CUBN
Metabolism of vitamins and cofactors (R-HSA-196854)	-	6.54	0.002	AMN, CUBN

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

Shared terms

GO	IC	Number of genes with the same GO	Genes
protein binding (GO:0005515)	0.46	2	AMN, CUBN
binding (GO:0005488)	0.18	2	AMN, CUBN

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 transport (GO:0015889)	7.65	2	AMN, CUBN
cobalamin metabolic process (GO:0009235)	6.68	2	AMN, CUBN
vitamin transport (GO:0051180)	6.2	2	AMN, CUBN
lipoprotein metabolic process (GO:0042157)	5.82	2	AMN, CUBN
tetrapyrrole metabolic process (GO:0033013)	5.65	2	AMN, CUBN
water-soluble vitamin metabolic process (GO:0006767)	5.29	2	AMN, CUBN
vitamin metabolic process (GO:0006766)	4.97	2	AMN, CUBN
receptor-mediated endocytosis (GO:0006898)	4.31	2	AMN, CUBN
endocytosis (GO:0006897)	3.69	2	AMN, CUBN
nitrogen compound transport (GO:0071705)	3.54	2	AMN, CUBN

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
cobalamin transport (GO:0015889)	-	7.65	0.0	AMN, CUBN
cobalamin metabolic process (GO:0009235)	-	6.68	0.0	AMN, CUBN
vitamin transport (GO:0051180)	-	6.2	0.001	AMN, CUBN
lipoprotein metabolic process (GO:0042157)	-	5.82	0.002	AMN, CUBN
tetrapyrrole metabolic process (GO:0033013)	-	5.65	0.004	AMN, CUBN
water-soluble vitamin metabolic process (GO:0006767)	-	5.29	0.002	AMN, CUBN
vitamin metabolic process (GO:0006766)	-	4.97	0.003	AMN, CUBN
receptor-mediated endocytosis (GO:0006898)	-	4.31	0.005	AMN, CUBN
endocytosis (GO:0006897)	-	3.69	0.021	AMN, CUBN
nitrogen compound transport (GO:0071705)	-	3.54	0.042	AMN, CUBN

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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
clathrin-coated pit (GO:0005905)	5.64	2	AMN, CUBN
apical part of cell (GO:0045177)	5.34	2	AMN, CUBN
endocytic vesicle (GO:0030139)	5.04	2	AMN, CUBN
apical plasma membrane (GO:0016324)	4.13	2	AMN, CUBN
membrane region (GO:0098589)	3.95	2	AMN, CUBN
endosome membrane (GO:0010008)	3.83	2	AMN, CUBN
endosomal part (GO:0044440)	3.73	2	AMN, CUBN
vacuolar membrane (GO:0005774)	3.45	2	AMN, CUBN
vacuolar part (GO:0044437)	3.26	2	AMN, CUBN
endosome (GO:0005768)	3.25	2	AMN, CUBN

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
endocytic vesicle (GO:0030139)	-	5.04	0.001	AMN, CUBN
apical plasma membrane (GO:0016324)	-	4.13	0.008	AMN, CUBN
endosome membrane (GO:0010008)	-	3.83	0.022	AMN, CUBN
endosomal part (GO:0044440)	-	3.73	0.024	AMN, CUBN
plasma membrane region (GO:0098590)	-	2.97	0.024	AMN, CUBN

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