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SH3TC2
- Charcot-Marie-Tooth Neuropathy Type 4c
MAGEL2
- Prader–willi Syndrome
SNRPN
- Prader–willi Syndrome
- Microdeletion Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
KRT17
- Pachyonychia Congenita
SS18
- Synovial Sarcoma
NDN
- Prader–willi Syndrome
KRT16
- Pachyonychia Congenita
BCL2
- Synovial Sarcoma
- Primary Ovarian Insufficiency
FMR1
- Prader–willi Syndrome
- Primary Ovarian Insufficiency
SHH
- Cyclopia
MKRN3
- Prader–willi Syndrome
ACE
- Severe Acute Respiratory Syndrome
- Synovial Sarcoma
- Primary Ovarian Insufficiency
KRT6A
- Pachyonychia Congenita
BMP15
- Primary Ovarian Insufficiency
NR5A1
- Primary Ovarian Insufficiency
POF1B
- Primary Ovarian Insufficiency
NOBOX
- Primary Ovarian Insufficiency
GDF9
- Primary Ovarian Insufficiency