CFP, complement factor properdin, 5199

N. diseases: 108; N. variants: 7
Disease: PROPERDIN DEFICIENCY, X-LINKED ×
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