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PTEN
- Synovial Sarcoma
- Uveal Melanoma
- Ankylosing Spondylitis
- Cowden Syndrome 4
- Non-Alcoholic Fatty Liver Disease
- Migraine
- Primary Ovarian Insufficiency
NR5A1
- Xy Gonadal Dysgenesis
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
GNAQ
- Uveal Melanoma
- Melanoma, Uveal
- Prader–willi Syndrome
GNA11
- Uveal Melanoma
- Melanoma, Uveal
BAP1
- Uveal Melanoma
- Melanoma, Uveal
WT1
- Xy Gonadal Dysgenesis
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
PNP
- Purine Nucleoside Phosphorylase Deficiency
SF3B1
- Uveal Melanoma
- Melanoma, Uveal
NFE2L2
- Cowden Syndrome 4
- Gonadotropin-Resistant Ovary Syndrome
- Non-Alcoholic Fatty Liver Disease
- Primary Ovarian Insufficiency
CYSLTR2
- Uveal Melanoma
- Melanoma, Uveal
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
MAGEL2
- Prader–willi Syndrome
ACE
- Synovial Sarcoma
- Severe Acute Respiratory Syndrome
- Ankylosing Spondylitis
- Cowden Syndrome 4
- Non-Alcoholic Fatty Liver Disease
- Migraine
- Primary Ovarian Insufficiency
PIK3CA
- Synovial Sarcoma
- Uveal Melanoma
- Ankylosing Spondylitis
- Cowden Syndrome 4
- Melanoma, Uveal
- Non-Alcoholic Fatty Liver Disease
- Migraine
- Primary Ovarian Insufficiency
- Prader–willi Syndrome
SS18
- Synovial Sarcoma
SRY
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
SNRPN
- Prader–willi Syndrome
RUNX1
- Uveal Melanoma
- Ankylosing Spondylitis
- Thrombocytopenia 5
MC2R
- Glucocorticoid Deficiency 1