46, xy sex reversal

Disease Term Disease ID Gene Symbol Classification References Source
46, XY Sex Reversal 5 C2751317 CBX2 Causal Pathogenic evidence from ClinVar 19361780 ClinVar
46,XY Sex Reversal 4 C2752149 DMRT1 Causal Pathogenic evidence from ClinVar - ClinVar
46,XY SEX REVERSAL 6 C3151064 MAP3K1 Causal Pathogenic evidence from ClinVar 12476449, 21129722 ClinVar
46,XY Sex Reversal 3 C3489793 NR5A1 Causal Pathogenic evidence from ClinVar 10369247, 11932325, 17200175, 17694559, 22028768, 22907560, 22951804, 23154282, 24405868, 25122490, 25383892, 26303087, 27169744, 27378692, 27490115, 28032338, 28459839 ClinVar
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 -
46,XY SEX REVERSAL 9 C4015129 ZFPM2 Causal Pathogenic evidence from ClinVar 24549039, 25813279 ClinVar
ZFPM2-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE C1839840 AKR1C2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21802064 -
AKR1C4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21802064 -
46,XX SEX REVERSAL 3 C3151782 SOX3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8826446 -