FCN3, ficolin 3, 8547

N. diseases: 39; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151226
Disease: FICOLIN 3 DEFICIENCY
FICOLIN 3 DEFICIENCY
0.720 Biomarker disease CTD_human
CUI: C3151226
Disease: FICOLIN 3 DEFICIENCY
FICOLIN 3 DEFICIENCY
0.720 CausalMutation disease CLINVAR
CUI: C3151226
Disease: FICOLIN 3 DEFICIENCY
FICOLIN 3 DEFICIENCY
0.720 GeneticVariation disease CLINVAR
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
0.400 Biomarker group HPO
CUI: C0043037
Disease: Common wart
Common wart
0.100 Biomarker disease HPO
Recurrent lower respiratory tract infection
0.100 Biomarker phenotype HPO
CUI: C3665596
Disease: Warts
Warts
0.100 Biomarker disease HPO
CUI: C4025684
Disease: Recurrent abscess formation
Recurrent abscess formation
0.100 Biomarker phenotype HPO
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.340 AlteredExpression disease BEFREE Several genes including Glypican 3, spondin-2, PEG10, EDIL3 and Osteopontin are over-expressed in HCC vs. adjacent tissue whereas Ficolin 3 is the most consistently under-expressed gene. 17006932 2006
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.010 GeneticVariation disease LHGDN Genetic polymorphisms of mannan binding lectin (MBL), serum levels of MBL, the MBL associated serine protease and H-ficolin in patients with Crohn's disease. 17303612 2007
CUI: C0035243
Disease: Respiratory Tract Infections
Respiratory Tract Infections
0.010 Biomarker group BEFREE No difference existed between haplotype-frequencies of FCN2 and FCN3 in children grouped according to the reported number of RTI. 19220833 2009
Recurrent respiratory tract infections
0.010 GeneticVariation disease BEFREE Low levels of Ficolin-2 have been suggested to associate with recurrent respiratory tract infections (RTI), whereas data on Ficolin-3 are still very limited. 19220833 2009
CUI: C3151226
Disease: FICOLIN 3 DEFICIENCY
FICOLIN 3 DEFICIENCY
0.720 GermlineCausalMutation disease ORPHANET Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency. 19535802 2009
CUI: C3151226
Disease: FICOLIN 3 DEFICIENCY
FICOLIN 3 DEFICIENCY
0.720 GeneticVariation disease BEFREE Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency. 19535802 2009
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
0.400 Biomarker group CTD_human Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency. 19535802 2009
CUI: C0003257
Disease: Antibody Deficiency Syndrome
Antibody Deficiency Syndrome
0.300 Biomarker disease CTD_human Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency. 19535802 2009
Infections specific to perinatal period
0.010 Biomarker group BEFREE No association of FCN3 gene heterozygosity or relative functional H-ficolin insufficiency (determined as serum level ≤8.6 μg/ml) with perinatal infections was found. 22226667 2012
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 GeneticVariation group BEFREE Logistic regression analysis was performed to evaluate the genetic effects on the prevalence of hypertension after adjusting for covariates. rs2504778, which locates in the upstream of FCN3 and in the intron of CD164L2, was found to be significantly associated with hypertension after adjusting for covariates (OR = 1.28, 95% CI: 1.05, 1.55, P = .015). 22471352 2012
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
0.010 GeneticVariation disease BEFREE Since type 2 diabetes shares some pathogenic components, including excessive serum C3, with hypertension, this study aims to test the hypothesis that common variants at FCN3 might be associated with essential hypertension in our Chinese population. 22471352 2012
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.020 GeneticVariation disease BEFREE Polymorphisms in MBL2 and in the genes of ficolin-1, ficolin-2 and ficolin-3 were genotyped by pyrosequencing and related to the risk of MI, estimated as odds ratios (OR). 22848725 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 AlteredExpression group BEFREE Their serum levels, single nucleotide polymorphisms of the corresponding FCN2 and FCN3 genes and specific mRNA expression in ovarian sections were investigated in 128 patients suffering from primary OC and 197 controls operated on for reasons other than malignancies. 23744477 2013
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.010 AlteredExpression disease BEFREE Their serum levels, single nucleotide polymorphisms of the corresponding FCN2 and FCN3 genes and specific mRNA expression in ovarian sections were investigated in 128 patients suffering from primary OC and 197 controls operated on for reasons other than malignancies. 23744477 2013
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.010 AlteredExpression disease BEFREE Their serum levels, single nucleotide polymorphisms of the corresponding FCN2 and FCN3 genes and specific mRNA expression in ovarian sections were investigated in 128 patients suffering from primary OC and 197 controls operated on for reasons other than malignancies. 23744477 2013
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.010 AlteredExpression disease BEFREE Their serum levels, single nucleotide polymorphisms of the corresponding FCN2 and FCN3 genes and specific mRNA expression in ovarian sections were investigated in 128 patients suffering from primary OC and 197 controls operated on for reasons other than malignancies. 23744477 2013
CUI: C3151226
Disease: FICOLIN 3 DEFICIENCY
FICOLIN 3 DEFICIENCY
0.720 Biomarker disease GENOMICS_ENGLAND Primary Ficolin-3 deficiency--Is it associated with increased susceptibility to infections? 25662573 2015