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GNAQ
- Prader–willi Syndrome
- Uveal Melanoma
- Melanoma, Uveal
PNP
- Purine Nucleoside Phosphorylase Deficiency
GNA11
- Uveal Melanoma
- Melanoma, Uveal
BAP1
- Uveal Melanoma
- Melanoma, Uveal
MAGEL2
- Tongue Thrust
- Prader–willi Syndrome
SF3B1
- Uveal Melanoma
- Melanoma, Uveal
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
CYSLTR2
- Uveal Melanoma
- Melanoma, Uveal
FMR1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Prader–willi Syndrome
NR5A1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
SNRPN
- Prader–willi Syndrome
SS18
- Synovial Sarcoma
NFE2L2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Machado–joseph Disease
CYP2C19
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
XPNPEP2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
WT1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
ATXN3
- Machado–joseph Disease
NDN
- Prader–willi Syndrome
BCL2
- Synovial Sarcoma
- Primary Ovarian Insufficiency
- Esthesioneuroblastoma
- Uveal Melanoma
- Melanoma, Uveal