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Diseases
Genes (2733)
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MAPT
Supranuclear Palsy, Progressive, 1
Epilepsy
NR5A1
Gonadotropin-Resistant Ovary Syndrome
Xy Gonadal Dysgenesis
Primary Ovarian Insufficiency
MAGEL2
Prader–willi Syndrome
WT1
Gonadotropin-Resistant Ovary Syndrome
Xy Gonadal Dysgenesis
Primary Ovarian Insufficiency
Optic Nerve Hypoplasia, Bilateral
PNP
Purine Nucleoside Phosphorylase Deficiency
GNAQ
Prader–willi Syndrome
Uveal Melanoma
Epilepsy
SNRPN
Prader–willi Syndrome
SSX1
Synovial Sarcoma
SSX2
Synovial Sarcoma
GNA11
Uveal Melanoma
BAP1
Uveal Melanoma
SCN8A
Epilepsy
FMR1
Supranuclear Palsy, Progressive, 1
Prader–willi Syndrome
Gonadotropin-Resistant Ovary Syndrome
Epilepsy
Primary Ovarian Insufficiency
RBM8A
Tar Syndrome
SS18
Synovial Sarcoma
CYP2C19
Gonadotropin-Resistant Ovary Syndrome
Epilepsy
Primary Ovarian Insufficiency
NFE2L2
Supranuclear Palsy, Progressive, 1
Gonadotropin-Resistant Ovary Syndrome
Epilepsy
Primary Ovarian Insufficiency
NDN
Prader–willi Syndrome
SF3B1
Supranuclear Palsy, Progressive, 1
Uveal Melanoma
DCXR
Pentosuria