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Diseases
Genes (2147)
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PNP
Purine Nucleoside Phosphorylase Deficiency
MAGEL2
Prader–willi Syndrome
PABPN1
Oculopharyngeal Muscular Dystrophy
GNAQ
Prader–willi Syndrome
Uveal Melanoma
SNRPN
Prader–willi Syndrome
GNA11
Uveal Melanoma
BAP1
Uveal Melanoma
FMR1
Prader–willi Syndrome
Gonadotropin-Resistant Ovary Syndrome
Primary Ovarian Insufficiency
NR5A1
Gonadotropin-Resistant Ovary Syndrome
Primary Ovarian Insufficiency
SSX1
Synovial Sarcoma
SSX2
Synovial Sarcoma
ANTXR2
Ankylosing Spondylitis
Breech Birth
NDN
Prader–willi Syndrome
NFE2L2
Gonadotropin-Resistant Ovary Syndrome
Primary Ovarian Insufficiency
Hepatitis
CYP2C19
Gonadotropin-Resistant Ovary Syndrome
Primary Ovarian Insufficiency
Hepatitis
SF3B1
Uveal Melanoma
WT1
Gonadotropin-Resistant Ovary Syndrome
Primary Ovarian Insufficiency
XPNPEP2
Gonadotropin-Resistant Ovary Syndrome
Primary Ovarian Insufficiency
SS18
Synovial Sarcoma
HLA-B
Ankylosing Spondylitis
Severe Acute Respiratory Syndrome