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PNP
- Purine Nucleoside Phosphorylase Deficiency
NR5A1
- Xy Gonadal Dysgenesis
- Gonadotropin-Resistant Ovary Syndrome
WT1
- Xy Gonadal Dysgenesis
- Gonadotropin-Resistant Ovary Syndrome
MAGEL2
- Prader–willi Syndrome
SNRPN
- Prader–willi Syndrome
SRY
- Xy Gonadal Dysgenesis
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
SS18
- Synovial Sarcoma
ACE
- Severe Acute Respiratory Syndrome
- Synovial Sarcoma
SOX9
- Xy Gonadal Dysgenesis
NDN
- Prader–willi Syndrome
DMRT1
- Xy Gonadal Dysgenesis
ZFPM2
- Xy Gonadal Dysgenesis
MAP3K1
- Xy Gonadal Dysgenesis
DHH
- Xy Gonadal Dysgenesis
CBX2
- Xy Gonadal Dysgenesis
BCL2
- Synovial Sarcoma
- Fibroadenoma
MED12
- Fibroadenoma
MKRN3
- Prader–willi Syndrome