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WT1
- Primary Ovarian Insufficiency
- Wilms' Tumor
PNP
- Purine Nucleoside Phosphorylase Deficiency
- Sinusitis
MAGEL2
- Tongue Thrust
- Prader–willi Syndrome
GNAQ
- Mongolian Spot
- Uveal Melanoma
- Prader–willi Syndrome
BAP1
- Uveal Melanoma
- Wilms' Tumor
GNA11
- Uveal Melanoma
GPC3
- Wilms' Tumor
BRCA2
- Primary Ovarian Insufficiency
- Uveal Melanoma
- Wilms' Tumor
SNRPN
- Prader–willi Syndrome
TP53
- Uveal Melanoma
- Machado–joseph Disease
- Wilms' Tumor
- Synovial Sarcoma
ATXN3
- Machado–joseph Disease
DICER1
- Uveal Melanoma
- Wilms' Tumor
- Sinusitis
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
NR5A1
- Primary Ovarian Insufficiency
- Wilms' Tumor
FMR1
- Primary Ovarian Insufficiency
- Sinusitis
- Prader–willi Syndrome
H19
- Primary Ovarian Insufficiency
- Wilms' Tumor
SF3B1
- Uveal Melanoma
TRIP13
- Wilms' Tumor
TRIM28
- Wilms' Tumor