Disease: Malabsorption Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.020 GeneticVariation group BEFREE IGS is caused by specific malabsorption of cobalamin (Cbl) due to bi-allelic mutations in either the cubilin gene (CUBN) or the human amnionless homolog (AMN). 22078000 2011
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.020 GeneticVariation group 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