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Diseases
Genes (1928)
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PNP
Purine Nucleoside Phosphorylase Deficiency
Autoimmune Hemolytic Anemia
Sinusitis
GNAQ
Focal Segmental Glomerulosclerosis
Uveal Melanoma
Prader–willi Syndrome
MAGEL2
Tongue Thrust
Prader–willi Syndrome
TRPC6
Focal Segmental Glomerulosclerosis
FMR1
Gonadotropin-Resistant Ovary Syndrome
Primary Ovarian Insufficiency
Sinusitis
Prader–willi Syndrome
GNA11
Uveal Melanoma
BAP1
Uveal Melanoma
WT1
Focal Segmental Glomerulosclerosis
Gonadotropin-Resistant Ovary Syndrome
Primary Ovarian Insufficiency
SNRPN
Prader–willi Syndrome
INF2
Focal Segmental Glomerulosclerosis
NR5A1
Gonadotropin-Resistant Ovary Syndrome
Primary Ovarian Insufficiency
SCN1B
Generalized Epilepsy With Febrile Seizures Plus
SUFU
Joubert Syndrome 32
SSX1
Synovial Sarcoma
SSX2
Synovial Sarcoma
NFE2L2
Focal Segmental Glomerulosclerosis
Gonadotropin-Resistant Ovary Syndrome
Primary Ovarian Insufficiency
CYP2C19
Gonadotropin-Resistant Ovary Syndrome
Primary Ovarian Insufficiency
XPNPEP2
Gonadotropin-Resistant Ovary Syndrome
Primary Ovarian Insufficiency
SF3B1
Uveal Melanoma
AGT
Focal Segmental Glomerulosclerosis
Primary Ovarian Insufficiency