46, xy disorder of sex development

Disease Term Disease ID Gene Symbol Classification References Source
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency 443087 AKR1C2 Causal Pathogenic evidence from ClinVar - ClinVar
AKR1C4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
46,XY disorder of sex development due to isolated 17,20-lyase deficiency 90796 CYB5A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CYP17A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
46, XY Disorders of Sex Development C2751824 CYP11A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11502818 -
LHCGR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7719343, 19887492 -
NR5A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 752 HSD17B3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 753 SRD5A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -