Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
0.020 GeneticVariation disease BEFREE In this study, we report a 12-year-old girl with a mutation in the PIK3R1 gene who manifested immunological phenotypes resembling hyper IgM syndrome along with a review of the literature of the previously reported patients. 30799802 2019
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
0.020 GeneticVariation disease BEFREE Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature. 27076228 2016