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 In conclusion, a relatively high frequency of GLI2 mutations and variants were identified in patients with congenital GH deficiency without other brain defects, and most of these patients presented with combined pituitary hormone deficiency and an ectopic posterior pituitary lobe. 25878059 2015
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency
0.120 GeneticVariation disease BEFREE The aim of this study was to screen for GLI2 mutations in a large cohort of patients with congenital GH deficiency. 22967285 2013
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency
0.120 Biomarker disease HPO