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TP53
- Salivary Duct Carcinoma
- Synovial Sarcoma
- Werner Syndrome
- Shwachman–diamond Syndrome
- Wild-Type Transthyretin Amyloid
- Li-Fraumeni Syndrome
- Mismatch Repair Cancer Syndrome
WRN
- Werner Syndrome
SBDS
- Shwachman–diamond Syndrome
MAGEL2
- Prader–willi Syndrome
SNRPN
- Prader–willi Syndrome
MLH1
- Synovial Sarcoma
- Werner Syndrome
- Wild-Type Transthyretin Amyloid
- Li-Fraumeni Syndrome
- Mismatch Repair Cancer Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
FMR1
- Gonadotropin-Resistant Ovary Syndrome
- Prader–willi Syndrome
- Supranuclear Palsy, Progressive, 1
- Primary Ovarian Insufficiency
PMS2
- Mismatch Repair Cancer Syndrome
MSH6
- Mismatch Repair Cancer Syndrome
MSH2
- Mismatch Repair Cancer Syndrome
NR5A1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
MAPT
- Supranuclear Palsy, Progressive, 1
- Wild-Type Transthyretin Amyloid
- Tick-Borne Encephalitis
- Wernicke Encephalopathy
CHEK2
- Li-Fraumeni Syndrome
- Mismatch Repair Cancer Syndrome
SS18
- Synovial Sarcoma
NFE2L2
- Gonadotropin-Resistant Ovary Syndrome
- Supranuclear Palsy, Progressive, 1
- Wild-Type Transthyretin Amyloid
- Primary Ovarian Insufficiency
WT1
- Gonadotropin-Resistant Ovary Syndrome
- Li-Fraumeni Syndrome
- Primary Ovarian Insufficiency
RPIA
- Ribose-5-Phosphate Isomerase Deficiency
CYP2C19
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency