C1QB, complement C1q B chain, 713

N. diseases: 24; N. variants: 8
Disease: Antibody Deficiency Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003257
Disease: Antibody Deficiency Syndrome
Antibody Deficiency Syndrome 		0.300 Biomarker disease CTD_human A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual. 2894352 1988