C9, complement C9, 735

N. diseases: 62; N. variants: 32
Disease: C9 Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151189
Disease: C9 Deficiency
C9 Deficiency 		0.750 GeneticVariation disease CLINVAR Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn. 28617419 2017
CUI: C3151189
Disease: C9 Deficiency
C9 Deficiency 		0.750 GeneticVariation disease BEFREE Arg95Stop mutation of exon 4 in complement component 9 (C9) gene is common in individuals in Japan with C9 deficiency (C9D); however, understanding of the influences of C9D on human glomerulonephritis remains elusive. 21057849 2011
CUI: C3151189
Disease: C9 Deficiency
C9 Deficiency 		0.750 Biomarker disease BEFREE An abnormal but functionally active complement component C9 protein found in an Irish family with subtotal C9 deficiency. 12603605 2003
CUI: C3151189
Disease: C9 Deficiency
C9 Deficiency 		0.750 Biomarker disease BEFREE Hereditary complement (C9) deficiency associated with dermatomyositis. 11359403 2001
CUI: C3151189
Disease: C9 Deficiency
C9 Deficiency 		0.750 GeneticVariation disease BEFREE Therefore, we studied the prevalence of Arg95Stop mutation of C9 gene among 78 patients with SLE to elucidate the association of SLE and C9 deficiency. 10981651 2000
CUI: C3151189
Disease: C9 Deficiency
C9 Deficiency 		0.750 GeneticVariation disease BEFREE Genetic analyses of Japanese C9 deficiency have shown that a C-to-T transition leading to TGA stop codon for Arg95 in exon 4 of the C9 gene (Arg95Stop) is common in Japanese C9 deficiency. 10083734 1999
CUI: C3151189
Disease: C9 Deficiency
C9 Deficiency 		0.750 Biomarker disease GENOMICS_ENGLAND Terminal complement component deficiencies in Japan. 10072634 1998
CUI: C3151189
Disease: C9 Deficiency
C9 Deficiency 		0.750 GeneticVariation disease UNIPROT Heterogeneity in the genetic basis of human complement C9 deficiency. 9634479 1998
CUI: C3151189
Disease: C9 Deficiency
C9 Deficiency 		0.750 CausalMutation disease CLINVAR
CUI: C3151189
Disease: C9 Deficiency
C9 Deficiency 		0.750 Biomarker disease CTD_human