C2, complement C2, 717

N. diseases: 71; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid
0.320 Biomarker disease GENOMICS_ENGLAND Characterization of type I complement C2 deficiency MHC haplotypes. Strong conservation of the complotype/HLA-B-region and absence of disease association due to linked class II genes. 7901282 1993
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid
0.320 Biomarker disease GENOMICS_ENGLAND Familial discoid lupus erythematosus associated with heterozygote C2 deficiency. 6902670 1980
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid
0.320 GeneticVariation disease BEFREE Hereditary complement (C2) deficiency with discoid lupus erythematosus and idiopathic atrophoderma. 315933 1979
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid
0.320 GeneticVariation disease BEFREE C3 metabolism in a patient with deficiency of the second component of complement (C2) and discoid lupus erythematosus. 1084239 1976