46,xy gonadal dysgenesis

Disease Term Disease ID Gene Symbol Classification References Source
46 XX GONADAL DYSGENESIS
MONDO:0009299
MRPS22 Causal
29566152
Disgenet
BMP15 Unknown
15136966
GWAS catalog
BNC1 Unknown
30010909
GWAS catalog
FSHR Unknown
7553856 11889179 12571157
GWAS catalog
NR5A1 Unknown
neant
GWAS catalog
NUP107 Unknown
26485283
ClinVar
POLR3H Unknown
30830215
CTD
PSMC3IP Unknown
21963259
GWAS catalog
SPIDR Unknown
27967308
GWAS catalog
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 GONADAL DYSGENESIS-MOTOR AND SENSORY NEUROPATHY SYNDROME
MONDO:0011766
DHH Causal
10482238 11017805 15356051 21242195 21816240 23786321 25383892 25927242 27899157 29471294 7985023 8805249
GWAS catalog