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TBX1
- 22q11.2 Duplication Syndrome
- Digeorge Syndrome
TP53
- Synovial Sarcoma
- Esthesioneuroblastoma
- Machado–joseph Disease
- Li-Fraumeni Syndrome
PNP
- Purine Nucleoside Phosphorylase Deficiency
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
SS18
- Synovial Sarcoma
RBM8A
- Tar Syndrome
NR5A1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
FMR1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
ATXN3
- Machado–joseph Disease
CHEK2
- Li-Fraumeni Syndrome
NFE2L2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Machado–joseph Disease
WT1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Li-Fraumeni Syndrome
CYP2C19
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
XPNPEP2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
COMT
- Primary Ovarian Insufficiency
- Digeorge Syndrome
BCL2
- Synovial Sarcoma
- Esthesioneuroblastoma
- Primary Ovarian Insufficiency
- Li-Fraumeni Syndrome
- Digeorge Syndrome
HLA-B
- Ankylosing Spondylitis
- Severe Acute Respiratory Syndrome
IL23R
- Ankylosing Spondylitis
ANTXR2
- Ankylosing Spondylitis