46,xy complete gonadal dysgenesis

Disease Term Disease ID Gene Symbol Classification References Source
46,XY COMPLETE GONADAL DYSGENESIS
MONDO:0010765
CBX2 Unknown
19361780
GWAS catalog
DHH Unknown
20301714
GWAS catalog
DHX37 Unknown
31337883
GWAS catalog
MAP3K1 Unknown
21129722
ClinVar
NR5A1 Unknown
20301714
GWAS catalog
SOX9 Unknown
22051515
GWAS catalog
SRY Unknown
20301714
GWAS catalog
46,XY DISORDER OF SEX DEVELOPMENT
MONDO:0020040
DMRT1 Unknown — GenCC