Imerslund-grasbeck syndrome | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
IMERSLUND-GRASBECK SYNDROME	35858	AMN	Unknown	21750092 26040326	Orphanet	Vitamin digestion and absorption Cobalamin (Cbl, vitamin B12) transport and metabolism Defective AMN causes hereditary megaloblastic anemia 1 +2 more
IMERSLUND-GRASBECK SYNDROME	35858	CUBN	Unknown	10080186	Orphanet	Vitamin digestion and absorption Cobalamin (Cbl, vitamin B12) transport and metabolism Vitamin D (calciferol) metabolism +3 more
IMERSLUND-GRASBECK SYNDROME	MONDO:0009853 MESH:C538556	AMN	Causal	21750092 26040326	HPO	Vitamin digestion and absorption Cobalamin (Cbl, vitamin B12) transport and metabolism Defective AMN causes hereditary megaloblastic anemia 1 +2 more
IMERSLUND-GRASBECK SYNDROME	MONDO:0009853 MESH:C538556	CUBN	Causal	10080186	CTD, GWAS catalog	Vitamin digestion and absorption Cobalamin (Cbl, vitamin B12) transport and metabolism Vitamin D (calciferol) metabolism +3 more
IMERSLUND-GRASBECK SYNDROME 1	261100	CUBN	Unknown	—	HPO	Vitamin digestion and absorption Cobalamin (Cbl, vitamin B12) transport and metabolism Vitamin D (calciferol) metabolism +3 more
IMERSLUND-GRASBECK SYNDROME 2	618882 C4016948	AMN	Unknown	—	Disgenet, HPO	Vitamin digestion and absorption Cobalamin (Cbl, vitamin B12) transport and metabolism Defective AMN causes hereditary megaloblastic anemia 1 +2 more
IMERSLUND-GRASBECK SYNDROME 2	618882 C4016948	CDC42BPB	Unknown	—	Disgenet	—
IMERSLUND-GRASBECK SYNDROME TYPE 1	MONDO:0100156	AMN	Causal	12590260 14593474 22929189 261100	GenCC	Vitamin digestion and absorption Cobalamin (Cbl, vitamin B12) transport and metabolism Defective AMN causes hereditary megaloblastic anemia 1 +2 more
IMERSLUND-GRASBECK SYNDROME TYPE 1	MONDO:0100156	CUBN	Causal	—	ClinVar, GenCC	Vitamin digestion and absorption Cobalamin (Cbl, vitamin B12) transport and metabolism Vitamin D (calciferol) metabolism +3 more
IMERSLUND-GRASBECK SYNDROME TYPE 2	MONDO:0100157	AMN	Causal	—	ClinVar	Vitamin digestion and absorption Cobalamin (Cbl, vitamin B12) transport and metabolism Defective AMN causes hereditary megaloblastic anemia 1 +2 more