Disease: Gonadal Dysgenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.120 Biomarker disease BEFREE DAX-1, also known as dosage sensitive sex reversal gene (DSS), is considered the most likely candidate gene involved in XY gonadal dysgenesis when overexpressed. 30879272 2019
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.120 GeneticVariation disease BEFREE The analysis with the DSD probe set has led to the identification of two copy number variations, an 800-kb NR0B1 (DAX1) locus duplication on Xp21 in a patient with isolated partial gonadal dysgenesis and a duplication of the SRD5A2 gene that represents a rare normal variant. 18384427 2008
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.120 Biomarker disease HPO