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PNP
- Purine Nucleoside Phosphorylase Deficiency
- Huntington's Disease
MAGEL2
- Prader–willi Syndrome
HTT
- Huntington's Disease
NFE2L2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Huntington's Disease
SNRPN
- Prader–willi Syndrome
ACE
- Severe Acute Respiratory Syndrome
- Ankylosing Spondylitis
- Synovial Sarcoma
- Primary Ovarian Insufficiency
- Huntington's Disease
GNAQ
- Prader–willi Syndrome
- Uveal Melanoma
BAP1
- Uveal Melanoma
- Huntington's Disease
- Nasopharyngeal Carcinoma, Susceptibility To, 3
GNA11
- Uveal Melanoma
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
FMR1
- Gonadotropin-Resistant Ovary Syndrome
- Prader–willi Syndrome
- Primary Ovarian Insufficiency
- Huntington's Disease
NR5A1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Huntington's Disease
DSPP
- Ankylosing Spondylitis
- Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
BCL2
- Synovial Sarcoma
- Uveal Melanoma
- Primary Ovarian Insufficiency
- Huntington's Disease
- Esthesioneuroblastoma
- Nasopharyngeal Carcinoma, Susceptibility To, 3
HLA-B
- Severe Acute Respiratory Syndrome
- Ankylosing Spondylitis
- Cardiac Arrest
SS18
- Synovial Sarcoma
CYP2C19
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
WT1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
XPNPEP2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency