CFP, complement factor properdin, 5199

N. diseases: 108; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1839454
Disease: PROPERDIN DEFICIENCY, X-LINKED
PROPERDIN DEFICIENCY, X-LINKED 		0.700 GeneticVariation disease UNIPROT Structural Basis for Properdin Oligomerization and Convertase Stimulation in the Human Complement System. 31507604 2019
CUI: C1839454
Disease: PROPERDIN DEFICIENCY, X-LINKED
PROPERDIN DEFICIENCY, X-LINKED 		0.700 GeneticVariation disease UNIPROT Functional and structural insight into properdin control of complement alternative pathway amplification. 28264884 2017
CUI: C1839454
Disease: PROPERDIN DEFICIENCY, X-LINKED
PROPERDIN DEFICIENCY, X-LINKED 		0.700 Biomarker disease GENOMICS_ENGLAND Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
CUI: C1839454
Disease: PROPERDIN DEFICIENCY, X-LINKED
PROPERDIN DEFICIENCY, X-LINKED 		0.700 Biomarker disease CTD_human Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies. 10909851 2000
CUI: C1839454
Disease: PROPERDIN DEFICIENCY, X-LINKED
PROPERDIN DEFICIENCY, X-LINKED 		0.700 GeneticVariation disease UNIPROT Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies. 10909851 2000
CUI: C1839454
Disease: PROPERDIN DEFICIENCY, X-LINKED
PROPERDIN DEFICIENCY, X-LINKED 		0.700 GeneticVariation disease UNIPROT Expression of properdin in complete and incomplete deficiency: normal in vitro synthesis by monocytes in two cases with properdin deficiency type II due to distinct mutations. 9710744 1998
CUI: C1839454
Disease: PROPERDIN DEFICIENCY, X-LINKED
PROPERDIN DEFICIENCY, X-LINKED 		0.700 GermlineCausalMutation disease ORPHANET Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchange. 8871668 1996
CUI: C1839454
Disease: PROPERDIN DEFICIENCY, X-LINKED
PROPERDIN DEFICIENCY, X-LINKED 		0.700 GeneticVariation disease UNIPROT Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchange. 8871668 1996
CUI: C1839454
Disease: PROPERDIN DEFICIENCY, X-LINKED
PROPERDIN DEFICIENCY, X-LINKED 		0.700 Biomarker disease CTD_human Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency. 8530058 1995
CUI: C1839454
Disease: PROPERDIN DEFICIENCY, X-LINKED
PROPERDIN DEFICIENCY, X-LINKED 		0.700 CausalMutation disease CLINVAR
CUI: C0398762
Disease: Properdin deficiency disease
Properdin deficiency disease 		0.510 GeneticVariation disease BEFREE A splice site mutation in exon 10 (c.1487-2A>G) was found in the properdin gene and co segregated with biochemically measured properdin deficiency. 16337490 2006
CUI: C0398762
Disease: Properdin deficiency disease
Properdin deficiency disease 		0.510 GermlineCausalMutation disease ORPHANET Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchange. 8871668 1996
CUI: C0398762
Disease: Properdin deficiency disease
Properdin deficiency disease 		0.510 Biomarker disease GENOMICS_ENGLAND Partial properdin deficiency. 6903190 1980
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.310 Biomarker disease BEFREE CFP suppresses breast cancer cell growth by TES-mediated upregulation of the transcription factor DDIT3. 30755730 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.310 Biomarker disease CTD_human Computational Discovery of Niclosamide Ethanolamine, a Repurposed Drug Candidate That Reduces Growth of Hepatocellular Carcinoma Cells In Vitro and in Mice by Inhibiting Cell Division Cycle 37 Signaling. 28284560 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.310 Biomarker disease BEFREE YB-1 protein was quantified from IL-1β- or TNFα-stimulated rat hepatoma cells (FaO) and the localization of a YFP-YB-1-CFP fusion protein was visualized by confocal microscopy in HepG2 human hepatocellular carcinoma cells. 22361279 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.310 GeneticVariation disease UNIPROT
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0025294
Disease: Meningococcal meningitis
Meningococcal meningitis 		0.300 Biomarker disease CTD_human Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies. 10909851 2000
CUI: C1135745
Disease: Meningitis, Meningococcal, Serogroup A
Meningitis, Meningococcal, Serogroup A 		0.300 Biomarker disease CTD_human Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies. 10909851 2000
CUI: C1135746
Disease: Meningitis, Meningococcal, Serogroup B
Meningitis, Meningococcal, Serogroup B 		0.300 Biomarker disease CTD_human Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies. 10909851 2000
CUI: C1135747
Disease: Meningitis, Meningococcal, Serogroup C
Meningitis, Meningococcal, Serogroup C 		0.300 Biomarker disease CTD_human Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies. 10909851 2000
CUI: C1136209
Disease: Meningitis, Meningococcal, Serogroup Y
Meningitis, Meningococcal, Serogroup Y 		0.300 Biomarker disease CTD_human Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies. 10909851 2000
CUI: C1136210
Disease: Meningitis, Meningococcal, Serogroup W-135
Meningitis, Meningococcal, Serogroup W-135 		0.300 Biomarker disease CTD_human Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies. 10909851 2000
CUI: C0025294
Disease: Meningococcal meningitis
Meningococcal meningitis 		0.300 Biomarker disease CTD_human Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency. 8530058 1995