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PNP
- Purine Nucleoside Phosphorylase Deficiency
MAGEL2
- Prader–willi Syndrome
- Tongue Thrust
SNRPN
- Prader–willi Syndrome
NR5A1
- Gonadotropin-Resistant Ovary Syndrome
- Xy Gonadal Dysgenesis
GNAQ
- Prader–willi Syndrome
- Uveal Melanoma
WT1
- Gonadotropin-Resistant Ovary Syndrome
- Xy Gonadal Dysgenesis
GNA11
- Uveal Melanoma
BAP1
- Uveal Melanoma
ATXN3
- Machado–joseph Disease
NDN
- Prader–willi Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
IL23R
- Ankylosing Spondylitis
- Salmonellosis
ANTXR2
- Ankylosing Spondylitis
HLA-B
- Ankylosing Spondylitis
ERAP1
- Ankylosing Spondylitis
SF3B1
- Uveal Melanoma
SS18
- Synovial Sarcoma
CARD9
- Ankylosing Spondylitis
CYSLTR2
- Uveal Melanoma