LMAN1, lectin, mannose binding 1, 3998

N. diseases: 30; N. variants: 6
Disease: Familial multiple factor deficiency syndrome, type I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272342
Disease: Familial multiple factor deficiency syndrome, type I
Familial multiple factor deficiency syndrome, type I 		0.040 GeneticVariation disease BEFREE Combined factor V and factor VIII deficiency is caused by mutations in ERGIC-53 (LMAN1) gene. 20460353 2011
CUI: C0272342
Disease: Familial multiple factor deficiency syndrome, type I
Familial multiple factor deficiency syndrome, type I 		0.040 Biomarker disease BEFREE Deletion of 3 residues from the C-terminus of MCFD2 affects binding to ERGIC-53 and causes combined factor V and factor VIII deficiency. 17971482 2008
CUI: C0272342
Disease: Familial multiple factor deficiency syndrome, type I
Familial multiple factor deficiency syndrome, type I 		0.040 GeneticVariation disease BEFREE A new case of combined factor V and factor VIII deficiency further suggests that the LMAN1 M1T mutation is a frequent cause in Italian patients. 17287640 2007
CUI: C0272342
Disease: Familial multiple factor deficiency syndrome, type I
Familial multiple factor deficiency syndrome, type I 		0.040 GeneticVariation disease BEFREE A mutation in LMAN1 (ERGIC-53) causing combined factor V and factor VIII deficiency is prevalent in Jews originating from the island of Djerba in Tunisia. 15166951 2004