C1QB, complement C1q B chain, 713

N. diseases: 24; N. variants: 8
Disease: Immunologic Deficiency Syndromes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.300 Biomarker group CTD_human A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual. 2894352 1988