Disease: Precocious Puberty ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.150 GeneticVariation disease BEFREE In addition, we summarized reported findings of patients with DAX1 mutations and PP in the literature in a structured manner providing a basis to discuss possible pathomechanisms of PP in DAX1 patients. 30537713 2019
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.150 GeneticVariation disease BEFREE A novel DAX-1 mutation in two male siblings presenting with precocious puberty and late-onset hypogonadotropic hypogonadism. 28284037 2017
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.150 GeneticVariation disease BEFREE We identified an NR0B1 frameshift mutation in a boy with precocious puberty who had no signs of adrenal insufficiency. 27648561 2016
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.150 GeneticVariation disease BEFREE In X-linked AHC caused by different molecular defects in NR0B1 gene, the clinical spectrum of the disease is quite variable and precocious sexual development is a prominent feature. 19508677 2010
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.150 GeneticVariation disease BEFREE Adrenocorticotropin-dependent precocious puberty of testicular origin in a boy with X-linked adrenal hypoplasia congenita due to a novel mutation in the DAX1 gene. 11549627 2001
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.150 Biomarker disease HPO