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PNP
- Purine Nucleoside Phosphorylase Deficiency
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
GJB3
- Erythrokeratodermia Variabilis
NR5A1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
FMR1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
SS18
- Synovial Sarcoma
WT1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Phakomatosis
CYP2C19
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
XPNPEP2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
NFE2L2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
GJB4
- Erythrokeratodermia Variabilis
HLA-B
- Severe Acute Respiratory Syndrome
- Ankylosing Spondylitis
DNMT3A
- Ankylosing Spondylitis
- Cerebral Softening
- Chronic Myelomonocytic Leukemia
ACE
- Severe Acute Respiratory Syndrome
- Primary Ovarian Insufficiency
- Synovial Sarcoma
- Ankylosing Spondylitis
BMP15
- Primary Ovarian Insufficiency
POF1B
- Primary Ovarian Insufficiency
NOBOX
- Primary Ovarian Insufficiency
GDF9
- Primary Ovarian Insufficiency
IL23R
- Ankylosing Spondylitis