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PTEN
- Cowden Syndrome
- Synovial Sarcoma
- Primary Ovarian Insufficiency
- Idiopathic Interstitial Pneumonia
- Colorectal Polyp
SUMF1
- Multiple Sulfatase Deficiency
EFHC1
- Juvenile Myoclonic Epilepsy
LAMA3
- Junctional Epidermolysis Bullosa (Medicine)
LAMB3
- Junctional Epidermolysis Bullosa (Medicine)
LAMC2
- Junctional Epidermolysis Bullosa (Medicine)
MLH1
- Keratoacanthoma
- Synovial Sarcoma
- Colorectal Polyp
- Muir–torre Syndrome
PRKAR1A
- Synovial Sarcoma
- Primary Pigmented Nodular Adrenocortical Disease
MSH2
- Keratoacanthoma
- Muir–torre Syndrome
PMM2
- Primary Ovarian Insufficiency
- Pmm2 Deficiency
SSX2
- Synovial Sarcoma
- Adamantinoma
SSX1
- Synovial Sarcoma
MKKS
- Mckusick-Kaufman Syndrome
KRT17
- Keratoacanthoma
- Pachyonychia Congenita
GABRA1
- Juvenile Myoclonic Epilepsy
SS18
- Synovial Sarcoma
- Adamantinoma
ITGB4
- Junctional Epidermolysis Bullosa (Medicine)
PIK3CA
- Cowden Syndrome
- Keratoacanthoma
- Synovial Sarcoma
- Primary Ovarian Insufficiency
KRT16
- Pachyonychia Congenita
COL17A1
- Junctional Epidermolysis Bullosa (Medicine)