PLEK, pleckstrin, 5341

N. diseases: 83; N. variants: 6
Disease: X-linked agammaglobulinemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.030 GeneticVariation disease BEFREE Mutations that cause X-linked agammaglobulinemia (XLA) appear throughout the Bruton tyrosine kinase (Btk) sequence, including the pleckstrin homology (PH) domain. 15082835 2004
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.030 GeneticVariation disease BEFREE Mutations in the pleckstrin homology (PH) domain of the Btk gene cause human X-linked agammaglobulinemia (XLA) and murine X-linked immunodeficiency (Xid). 8939985 1996
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		0.030 GeneticVariation disease BEFREE Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia. 7849006 1995