Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280642
Disease: Complement Component 4a Deficiency
Complement Component 4a Deficiency
0.550 GeneticVariation disease BEFREE Instead, most East Asian subjects with C4A deficiency were found to have a recombinant haplotype with bimodular C4-Long and C4-Short genes, encoding C4B1 and C4B96, which was linked to HLA-DRB1*1501. 26814708 2016
CUI: C3280642
Disease: Complement Component 4a Deficiency
Complement Component 4a Deficiency
0.550 Biomarker disease GENOMICS_ENGLAND Complement-4 deficiency in a child with systemic lupus erythematosus presenting with standard treatment-resistant severe skin lesion. 22482068 2011
CUI: C3280642
Disease: Complement Component 4a Deficiency
Complement Component 4a Deficiency
0.550 GeneticVariation disease BEFREE A large deletion covering most of the C4A gene and the 21-hydroxylase-A (21-OHA) pseudogene found on the extended haplotype B8-C4AQ0-C4B1-DR3 is estimated to account for approximately two-thirds of C4A deficiency in Caucasian SLE patients. 11033017 2000
CUI: C3280642
Disease: Complement Component 4a Deficiency
Complement Component 4a Deficiency
0.550 GeneticVariation disease BEFREE Patients with C4A gene deletion had lower C4 levels than patients with C4A deficiency from other mechanisms. 8341140 1993
CUI: C3280642
Disease: Complement Component 4a Deficiency
Complement Component 4a Deficiency
0.550 GeneticVariation disease BEFREE Thus, homoexpression of C4B at both loci was not responsible for C4A deficiency in nonDR3 SLE patients without C4A gene deletion. 2044237 1991
CUI: C3280642
Disease: Complement Component 4a Deficiency
Complement Component 4a Deficiency
0.550 Biomarker disease BEFREE Our results indicate that C4AQ0 may contribute to the pathogenesis of SLE beyond the ethnical differences but Japanese patients with SLE have a different genetic background from Caucasian patients with the C4A gene deleted. 1976809 1990
CUI: C3280642
Disease: Complement Component 4a Deficiency
Complement Component 4a Deficiency
0.550 Biomarker disease CTD_human