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PNP
- Purine Nucleoside Phosphorylase Deficiency
MAGEL2
- Tongue Thrust
- Prader–willi Syndrome
SNRPN
- Prader–willi Syndrome
GNAQ
- Prader–willi Syndrome
- Uveal Melanoma
GNA11
- Uveal Melanoma
BAP1
- Uveal Melanoma
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
ATXN3
- Machado–joseph Disease
SS18
- Synovial Sarcoma
NDN
- Prader–willi Syndrome
SF3B1
- Uveal Melanoma
HLA-B
- Ankylosing Spondylitis
- Severe Acute Respiratory Syndrome
IL23R
- Ankylosing Spondylitis
ANTXR2
- Ankylosing Spondylitis
ERAP1
- Ankylosing Spondylitis
CYSLTR2
- Uveal Melanoma
BCL2
- Synovial Sarcoma
- Esthesioneuroblastoma
- Uveal Melanoma
FMR1
- Gonadotropin-Resistant Ovary Syndrome
- Prader–willi Syndrome
NFE2L2
- Gonadotropin-Resistant Ovary Syndrome
- Machado–joseph Disease