IGHM, immunoglobulin heavy constant mu, 3507

N. diseases: 59; N. variants: 1
Disease: Hypogammaglobulinemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia 		0.310 GeneticVariation disease BEFREE To determine the proportion of affected patients who have defects in the micro heavy chain (IGHM) gene, we used single-stranded conformational polymorphism analysis to screen genomic DNA from 40 unrelated patients with early onset infections, profound hypogammaglobulinemia, and absent B cells. 12370281 2002
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia 		0.310 Biomarker disease CTD_human