C5, complement C5, 727

N. diseases: 129; N. variants: 20
Disease: Complement component 5 deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0343047
Disease: Complement component 5 deficiency
Complement component 5 deficiency 		0.610 Biomarker disease GENOMICS_ENGLAND A complement C5 gene mutation, c.754G>A:p.A252T, is common in the Western Cape, South Africa and found to be homozygous in seven percent of Black African meningococcal disease cases. 25534848 2015
CUI: C0343047
Disease: Complement component 5 deficiency
Complement component 5 deficiency 		0.610 Biomarker disease BEFREE We postulate that the C5 defect is not the sole cause of Leiner's disease as has been suggested, but that hypogammaglobulinaemia or other lymphoid deficiency is also required for its expression. 144462 1977
CUI: C0343047
Disease: Complement component 5 deficiency
Complement component 5 deficiency 		0.610 CausalMutation disease CLINVAR
CUI: C0343047
Disease: Complement component 5 deficiency
Complement component 5 deficiency 		0.610 Biomarker disease CTD_human
CUI: C0343047
Disease: Complement component 5 deficiency
Complement component 5 deficiency 		0.610 GeneticVariation disease CLINVAR