BTK, Bruton tyrosine kinase, 695

N. diseases: 290; N. variants: 85
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency
0.120 GeneticVariation disease BEFREE X-linked hypogammaglobulinemia with isolated growth hormone deficiency is not caused by Bruton's tyrosine kinase mutations in the family described originally, but may be due to a mutation in myeloid elf-1-like factor. 16264330 2005
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency
0.120 GeneticVariation disease BEFREE We have analyzed the btk gene of a patient with XLA and IGHD. 8013627 1994
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency
0.120 Biomarker disease HPO