Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020619
Disease: Hypogonadism
Hypogonadism
0.130 GeneticVariation disease BEFREE We describe the case of a girl with a novel heterozygous deletion in exon 15 of the CHD7 gene and combined agenesis of uterus and ovaries, besides gonadotropin deficiency, thus expanding the geno-phenotype of CHARGE syndrome. 26741373 2016
CUI: C0020619
Disease: Hypogonadism
Hypogonadism
0.130 Biomarker disease LHGDN Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 18834967 2008
CUI: C0020619
Disease: Hypogonadism
Hypogonadism
0.130 Biomarker disease BEFREE Hypogonadism and CHARGE association. 10995509 2000
CUI: C0020619
Disease: Hypogonadism
Hypogonadism
0.130 Biomarker disease HPO