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PNP
- Purine Nucleoside Phosphorylase Deficiency
SGSH
- Ankylosing Spondylitis
- Mucopolysaccharidosis Type 3
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
FMR1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Vldlr Cerebellar Hypoplasia
- Essential Tremor
NAGLU
- Mucopolysaccharidosis Type 3
HGSNAT
- Mucopolysaccharidosis Type 3
GNA11
- Uveal Melanoma
BAP1
- Uveal Melanoma
GNAQ
- Uveal Melanoma
SS18
- Synovial Sarcoma
NR5A1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
GNS
- Mucopolysaccharidosis Type 3
AARS2
- Primary Ovarian Insufficiency
- Vldlr Cerebellar Hypoplasia
- Combined Oxidative Phosphorylation Deficiency 8
POU5F1
- Primary Ovarian Insufficiency
- Gestational Trophoblastic Disease
- Uveal Melanoma
CYP2C19
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Essential Tremor
WT1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
XPNPEP2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
NFE2L2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
SF3B1
- Uveal Melanoma
- Essential Tremor