Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Humoral immunodeficiency
CUI: C1399819
Disease: Humoral immunodeficiency
0.010 GeneticVariation BEFREE Family members heterozygous with respect to the C104R mutation and individuals with sporadic common variable immunodeficiency who were heterozygous with respect to the amino acid substitutions A181E, S194X and R202H had humoral immunodeficiency. 16007087 2005