LMAN1, lectin, mannose binding 1, 3998

N. diseases: 30; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551981
Disease: Familial Multiple Coagulation Factor Deficiency I
Familial Multiple Coagulation Factor Deficiency I 		0.700 CausalMutation disease CLINVAR
CUI: C4551981
Disease: Familial Multiple Coagulation Factor Deficiency I
Familial Multiple Coagulation Factor Deficiency I 		0.700 Biomarker disease CTD_human
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		0.100 Biomarker phenotype HPO
CUI: C4025649
Disease: Reduced factor VIII activity
Reduced factor VIII activity 		0.100 Biomarker phenotype HPO
CUI: C4317320
Disease: Factor V deficiency
Factor V deficiency 		0.100 Biomarker disease HPO
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.400 GermlineCausalMutation disease ORPHANET Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2. 16304051 2006
CUI: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.400 GeneticVariation disease BEFREE F5F8D is genetically linked to mutations in the transmembrane lectin ERGIC-53 and its soluble interaction partner MCFD2. 17971482 2008
CUI: C1306589
Disease: Congenital dyserythropoietic anemia, type II
Congenital dyserythropoietic anemia, type II 		0.010 GeneticVariation disease BEFREE Congenital dyserythropoietic anemia type II (CDAII) and combined deficiency of coagulation factors V and VIII (F5F8D) are the 2 known hematologic diseases that result from defects in the endoplasmic reticulum (ER)-to-Golgi transport system. 22586181 2012
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.080 AlteredExpression group BEFREE F5F8D is characterized by concomitantly low levels (usually between 5% and 20%) of both FV and FVIII, and is associated with a mild to moderate bleeding tendency. 19141160 2008
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.080 AlteredExpression group BEFREE F5F8D is characterized by concomitantly low levels (usually between 5% and 20%) of both FV and FVIII and is associated with a mild to moderate bleeding tendency. 19598067 2009
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
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: C1856883
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 		0.400 GeneticVariation disease BEFREE A novel missense mutation causing abnormal LMAN1 in a Japanese patient with combined deficiency of factor V and factor VIII. 19787799 2009
CUI: C4551981
Disease: Familial Multiple Coagulation Factor Deficiency I
Familial Multiple Coagulation Factor Deficiency I 		0.700 GeneticVariation disease UNIPROT A novel missense mutation causing abnormal LMAN1 in a Japanese patient with combined deficiency of factor V and factor VIII. 19787799 2009
CUI: C4544822
Disease: Microsatellite instability-high colorectal cancer
Microsatellite instability-high colorectal cancer 		0.010 GeneticVariation disease BEFREE Among 28 candidate genes, LMAN1/ERGIC53, a mannose-specific lectin mediating endoplasmatic reticulum (ER)-to-Golgi transit of glycosylated proteins, showed high mutation frequency in MSI-H colorectal cancer cell lines (52%; 12 of 23), carcinomas (45%; 72 of 161), and adenomas (40%; 8 of 20). 19118014 2009
CUI: C0883409
Disease: Cardiac troponin I measurement
Cardiac troponin I measurement 		0.100 GeneticVariation phenotype GWASCAT Cardiac Troponin T and Troponin I in the General Population. 31014085 2019
CUI: C3714514
Disease: Infection
Infection 		0.020 GeneticVariation group LHGDN Chlamydia trachomatis infection, Fallopian tube damage and a mannose-binding lectin codon 54 gene polymorphism. 17496053 2007
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: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.080 Biomarker group BEFREE Combined deficiency of coagulation factor V (FV) and factor VIII (FVIII) (F5F8D) is an inherited bleeding disorder characterized by a reduction in plasma concentrations of FV and FVIII. 19787799 2009
CUI: C0042880
Disease: Vitamin K Deficiency
Vitamin K Deficiency 		0.010 Biomarker disease BEFREE Combined deficiency of factor (F)V and FVIII (F5F8D) and combined deficiency of vitamin K-dependent clotting factors (VKCFD) comprise the vast majority of reported cases of familial multiple coagulation factor deficiencies. 15333032 2004
CUI: C1848534
Disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 		0.010 Biomarker disease BEFREE Combined deficiency of factor (F)V and FVIII (F5F8D) and combined deficiency of vitamin K-dependent clotting factors (VKCFD) comprise the vast majority of reported cases of familial multiple coagulation factor deficiencies. 15333032 2004
CUI: C0272315
Disease: Coagulation factor deficiency syndrome
Coagulation factor deficiency syndrome 		0.020 Biomarker group BEFREE Combined deficiency of factor (F)V and FVIII (F5F8D) and combined deficiency of vitamin K-dependent clotting factors (VKCFD) comprise the vast majority of reported cases of familial multiple coagulation factor deficiencies. 15333032 2004
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.080 GeneticVariation group BEFREE Combined deficiency of factor V (FV) and FVIII (F5F8D) is an autosomal recessive bleeding disorder characterized by simultaneous decreases of both coagulation factors. 23852824 2013
CUI: C4551981
Disease: Familial Multiple Coagulation Factor Deficiency I
Familial Multiple Coagulation Factor Deficiency I 		0.700 Biomarker disease GENOMICS_ENGLAND Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2. 16304051 2006
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.080 GeneticVariation group BEFREE Combined deficiency of factors V (FV) and factor VIII (FVIII) (F5F8D) is an autosomal recessive bleeding disorder caused by simultaneous moderate-to-mild decrease of both clotting proteins. 16044454 2005