Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia
0.010 GeneticVariation disease BEFREE Moreover, we identified a homozygous truncating mutation in DNAJC17 in a family with an apparently novel syndrome of retinitis pigmentosa and hypogammaglobulinemia. 26355662 2016