Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018054
Disease: Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, 46,XY
0.320 Biomarker disease BEFREE Deficits in SRY, WT1, DHH, NR5A1, and DMRT1 caused 46,XY gonadal dysgenesis. 30550360 2019
CUI: C0018054
Disease: Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, 46,XY
0.320 GeneticVariation disease BEFREE However, none of these DMRT1 or FGF9 variants was associated with increased 46,XY gonadal dysgenesis. 22939835 2012
CUI: C0018054
Disease: Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, 46,XY
0.320 GeneticVariation disease ORPHANET Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions. 22821627 2012