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MAGEL2
- Prader–willi Syndrome
SNRPN
- Microdeletion Syndrome
- Prader–willi Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
NR5A1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
RHBDF2
- Howel–evans Syndrome
SS18
- Synovial Sarcoma
KRT17
- Pachyonychia Congenita
PCDH19
- Epilepsy-Intellectual Disability In Females
WT1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
NDN
- Prader–willi Syndrome
KRT16
- Pachyonychia Congenita
BCL2
- Synovial Sarcoma
- Primary Ovarian Insufficiency
- Fibroadenoma
SRY
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
FMR1
- Prader–willi Syndrome
- Primary Ovarian Insufficiency
MKRN3
- Prader–willi Syndrome
ACE
- Severe Acute Respiratory Syndrome
- Synovial Sarcoma
- Primary Ovarian Insufficiency
KRT6A
- Pachyonychia Congenita
BMP15
- Primary Ovarian Insufficiency
POF1B
- Primary Ovarian Insufficiency