Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551825
Disease: Megaloblastic Anemia 1
Megaloblastic Anemia 1 		0.770 GeneticVariation disease UNIPROT Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells. 29402915 2018
CUI: C4551825
Disease: Megaloblastic Anemia 1
Megaloblastic Anemia 1 		0.770 GeneticVariation disease UNIPROT Structural assembly of the megadalton-sized receptor for intestinal vitamin B12 uptake and kidney protein reabsorption. 30523278 2018
CUI: C4551825
Disease: Megaloblastic Anemia 1
Megaloblastic Anemia 1 		0.770 Biomarker disease GENOMICS_ENGLAND Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report. 26040326 2015
CUI: C4551825
Disease: Megaloblastic Anemia 1
Megaloblastic Anemia 1 		0.770 GeneticVariation disease UNIPROT Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report. 26040326 2015
CUI: C4551825
Disease: Megaloblastic Anemia 1
Megaloblastic Anemia 1 		0.770 GeneticVariation disease BEFREE Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN. 24044590 2013
CUI: C4551825
Disease: Megaloblastic Anemia 1
Megaloblastic Anemia 1 		0.770 GeneticVariation disease UNIPROT Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns. 22929189 2012
CUI: C4551825
Disease: Megaloblastic Anemia 1
Megaloblastic Anemia 1 		0.770 GeneticVariation disease CLINVAR Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns. 22929189 2012
CUI: C4551825
Disease: Megaloblastic Anemia 1
Megaloblastic Anemia 1 		0.770 GeneticVariation disease BEFREE Recessive mutations in CUBN or AMN cause Imerslund-Gräsbeck Syndrome (IGS), while recessive mutations in GIF cause Intrinsic Factor Deficiency (IFD). 22929189 2012
CUI: C4551825
Disease: Megaloblastic Anemia 1
Megaloblastic Anemia 1 		0.770 GeneticVariation disease UNIPROT Imerslund-Gräsbeck syndrome: new mutation in amnionless. 22631584 2012
CUI: C4551825
Disease: Megaloblastic Anemia 1
Megaloblastic Anemia 1 		0.770 GeneticVariation disease BEFREE One particular mutation in AMN, c.208-2A>G, causing an out-of-frame loss of exon 4 in the mRNA, is responsible for some 15% of IGS cases globally. 22078000 2011
CUI: C4551825
Disease: Megaloblastic Anemia 1
Megaloblastic Anemia 1 		0.770 GeneticVariation disease BEFREE Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7. 21750092 2011
CUI: C4551825
Disease: Megaloblastic Anemia 1
Megaloblastic Anemia 1 		0.770 Biomarker disease GENOMICS_ENGLAND Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients. 17285242 2007
CUI: C4551825
Disease: Megaloblastic Anemia 1
Megaloblastic Anemia 1 		0.770 GeneticVariation disease BEFREE Biallelic mutations either in the cubilin (CUBN) or amnionless (AMN) gene cause IGS. 15738392 2005
CUI: C4551825
Disease: Megaloblastic Anemia 1
Megaloblastic Anemia 1 		0.770 GeneticVariation disease BEFREE Several syndromes present with megaloblastic anemia such as congenital megaloblastic anemia due to intrinsic factor defect and juvenile megaloblastic anemia with proteinuria due to defects in the cubilin or the amnionless protein. 16047053 2005
CUI: C4551825
Disease: Megaloblastic Anemia 1
Megaloblastic Anemia 1 		0.770 Biomarker disease GENOMICS_ENGLAND Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East. 15024727 2004
CUI: C4551825
Disease: Megaloblastic Anemia 1
Megaloblastic Anemia 1 		0.770 GeneticVariation disease CLINVAR We show that homozygous mutations affecting exons 1-4 of human AMN lead to selective malabsorption of vitamin B12 (a phenotype associated with megaloblastic anemia 1, MGA1; OMIM 261100; refs. 12590260 2003
CUI: C4551825
Disease: Megaloblastic Anemia 1
Megaloblastic Anemia 1 		0.770 GeneticVariation disease BEFREE We show that homozygous mutations affecting exons 1-4 of human AMN lead to selective malabsorption of vitamin B12 (a phenotype associated with megaloblastic anemia 1, MGA1; OMIM 261100; refs. 12590260 2003
CUI: C4551825
Disease: Megaloblastic Anemia 1
Megaloblastic Anemia 1 		0.770 GeneticVariation disease UNIPROT We show that homozygous mutations affecting exons 1-4 of human AMN lead to selective malabsorption of vitamin B12 (a phenotype associated with megaloblastic anemia 1, MGA1; OMIM 261100; refs. 12590260 2003
CUI: C4551825
Disease: Megaloblastic Anemia 1
Megaloblastic Anemia 1 		0.770 Biomarker disease GENOMICS_ENGLAND We show that homozygous mutations affecting exons 1-4 of human AMN lead to selective malabsorption of vitamin B12 (a phenotype associated with megaloblastic anemia 1, MGA1; OMIM 261100; refs. 12590260 2003
CUI: C4551825
Disease: Megaloblastic Anemia 1
Megaloblastic Anemia 1 		0.770 Biomarker disease CTD_human
CUI: C1306856
Disease: Megaloblastic anemia due to inborn errors of metabolism
Megaloblastic anemia due to inborn errors of metabolism 		0.300 GermlineCausalMutation disease ORPHANET Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report. 26040326 2015
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute 		0.300 Therapeutic disease CTD_human Pituitary adenylate cyclase-activating polypeptide prevents cisplatin-induced renal failure. 20514524 2011
CUI: C1306856
Disease: Megaloblastic anemia due to inborn errors of metabolism
Megaloblastic anemia due to inborn errors of metabolism 		0.300 GermlineCausalMutation disease ORPHANET Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7. 21750092 2011
CUI: C1565662
Disease: Acute Kidney Insufficiency
Acute Kidney Insufficiency 		0.300 Therapeutic disease CTD_human Pituitary adenylate cyclase-activating polypeptide prevents cisplatin-induced renal failure. 20514524 2011
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury 		0.300 Therapeutic disease CTD_human Pituitary adenylate cyclase-activating polypeptide prevents cisplatin-induced renal failure. 20514524 2011