CFP, complement factor properdin, 5199

N. diseases: 108; N. variants: 7
Disease: Properdin deficiency disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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