46, xx gonadal sex reversal

Disease Term Disease ID Gene Symbol Classification References Source
46, XX Testicular Disorders of Sex Development C2936419 NR5A1 Causal Pathogenic evidence from ClinVar 27490115 ClinVar
NR0B1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28483799 -
SOX3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21183788, 22678921 -
SOX9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24140641 -
46,XX SEX REVERSAL 4 C4479552 NR5A1 Causal Pathogenic evidence from ClinVar 27378692, 27490115, 27610946, 27855412 ClinVar
46,XX testicular disorder of sex development 393 NR5A1 Causal Pathogenic evidence from ClinVar - ClinVar
NR0B1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SOX3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SOX9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SRY Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
46, XX Gonadal Sex Reversal C2936420 MRPS22 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29566152 -