C7, complement C7, 730

N. diseases: 16; N. variants: 11
Disease: Complement Component 7 Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864694
Disease: Complement Component 7 Deficiency
Complement Component 7 Deficiency 		0.720 Biomarker disease BEFREE Hereditary complement C7 deficiency in nine families: subtotal C7 deficiency revisited. 17407100 2007
CUI: C1864694
Disease: Complement Component 7 Deficiency
Complement Component 7 Deficiency 		0.720 CausalMutation disease CLINVAR Two novel mutations in the C7 gene in a Korean patient with complement C7 deficiency. 15831990 2005
CUI: C1864694
Disease: Complement Component 7 Deficiency
Complement Component 7 Deficiency 		0.720 Biomarker disease GENOMICS_ENGLAND Complement component C7 deficiency in two Spanish families. 15554930 2004
CUI: C1864694
Disease: Complement Component 7 Deficiency
Complement Component 7 Deficiency 		0.720 GeneticVariation disease UNIPROT Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes. 9856499 1998
CUI: C1864694
Disease: Complement Component 7 Deficiency
Complement Component 7 Deficiency 		0.720 GeneticVariation disease UNIPROT Molecular bases of C7 deficiency: three different defects. 9218625 1997
CUI: C1864694
Disease: Complement Component 7 Deficiency
Complement Component 7 Deficiency 		0.720 GeneticVariation disease UNIPROT Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies. 8871666 1996
CUI: C1864694
Disease: Complement Component 7 Deficiency
Complement Component 7 Deficiency 		0.720 Biomarker disease BEFREE The relatives (parents and one sister) had half-normal levels of both immunochemically and functionally determined C7, indicating a heterozygous state for C7 deficiency. 2792129 1989
CUI: C1864694
Disease: Complement Component 7 Deficiency
Complement Component 7 Deficiency 		0.720 Biomarker disease CTD_human