Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder
0.020 GeneticVariation group BEFREE In particular, patients bearing a loss-of-function mutation of MST1 are reported to have an autosomal recessive primary immunodeficiency syndrome. 29568120 2018
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder
0.020 GeneticVariation group BEFREE Recent findings have associated mammalian sterile 20-like kinase 1 (MST1) loss of function with a human primary immunodeficiency disorder, suggesting that MST1 may be involved in immune cell migration. 27701149 2016