Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Autoimmune Lymphoproliferative Syndrome
0.010 GeneticVariation disease BEFREE Of 17 unique APT1 mutations in unrelated ALPS probands, 12 (71%) occurred in exons 7-9, which encode the intracellular portion of Fas. 10090885 1999