LMAN1, lectin, mannose binding 1, 3998

N. diseases: 30; N. variants: 6
Disease: Hemophilia A ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		0.030 GeneticVariation disease BEFREE Congenital combined coagulation factor V and coagulation factor VIII deficiency (F5F8D) is a rare bleeding disorder due to mutations in the LMAN1 or MCFD2 genes. 18685427 2008
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		0.030 GeneticVariation disease BEFREE Recently identification of the gene, the endoplasmic reticulum-Golgi intermediate compartment (ERGIC-53), responsible for combined factor V-factor VIII deficiency and mutations of the ERGIC-53 gene in affected patients have been reported. 11446732 2001
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		0.030 GeneticVariation disease BEFREE Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency. 10090934 1999