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PNP
- Purine Nucleoside Phosphorylase Deficiency
- Sinusitis
AR
- Ankylosing Spondylitis
- Pulmonary Sclerosing Pneumocytoma
- Vldlr Cerebellar Hypoplasia
- Complete Androgen Insensitivity Syndrome
NR5A1
- Xy Gonadal Dysgenesis
- Gonadotropin-Resistant Ovary Syndrome
- Complete Androgen Insensitivity Syndrome
SSX2
- Synovial Sarcoma
- Adamantinoma
SSX1
- Synovial Sarcoma
GNAQ
- Chiari Malformation
- Uveal Melanoma
WT1
- Xy Gonadal Dysgenesis
- Gonadotropin-Resistant Ovary Syndrome
SS18
- Synovial Sarcoma
- Adamantinoma
GNA11
- Uveal Melanoma
BAP1
- Uveal Melanoma
SRY
- Xy Gonadal Dysgenesis
- Complete Androgen Insensitivity Syndrome
SF3B1
- Uveal Melanoma
HLA-B
- Ankylosing Spondylitis
- Severe Acute Respiratory Syndrome
IL23R
- Ankylosing Spondylitis
ANTXR2
- Ankylosing Spondylitis
ERAP1
- Ankylosing Spondylitis
BCL2
- Synovial Sarcoma
- Uveal Melanoma
FMR1
- Gonadotropin-Resistant Ovary Syndrome
- Vldlr Cerebellar Hypoplasia
- Sinusitis
SOX9
- Xy Gonadal Dysgenesis
- Complete Androgen Insensitivity Syndrome
CYSLTR2
- Uveal Melanoma