Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism
0.110 GeneticVariation disease BEFREE Exome sequencing in 5 women with syndromic hypergonadotropic hypogonadism from 2 unrelated families revealed novel pathogenic variants in the DCAF17 gene. 29178422 2018
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism
0.110 Biomarker disease HPO