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AR
- Pilomatricoma
- Prader–willi Syndrome
- Primary Ovarian Insufficiency
- Ankylosing Spondylitis
- Complete Androgen Insensitivity Syndrome
- Ductal Carcinoma In Situ
CTNNB1
- Synovial Sarcoma
- Pilomatricoma
- Ankylosing Spondylitis
- Complete Androgen Insensitivity Syndrome
- Cardiomyopathy
- Malignant Rhabdoid Tumour
- Ductal Carcinoma In Situ
MAPT
- Wernicke Encephalopathy
- Parkinsonism
- Cardiomyopathy
MAGEL2
- Prader–willi Syndrome
POLG
- Primary Ovarian Insufficiency
- Parkinsonism
- Cardiomyopathy
PTGS2
- Synovial Sarcoma
- Wernicke Encephalopathy
- Ankylosing Spondylitis
- Parkinsonism
- Cardiomyopathy
- Malignant Rhabdoid Tumour
- Ductal Carcinoma In Situ
TNF
- Severe Acute Respiratory Syndrome
- African Trypanosomiasis
- Synovial Sarcoma
- Prader–willi Syndrome
- Primary Ovarian Insufficiency
- Pulmonary Hypoplasia
- Ankylosing Spondylitis
- Complete Androgen Insensitivity Syndrome
- Parkinsonism
- Cardiomyopathy
SNRPN
- Prader–willi Syndrome
SMARCB1
- Synovial Sarcoma
- Malignant Rhabdoid Tumour
DMD
- Prader–willi Syndrome
- Ankylosing Spondylitis
- Complete Androgen Insensitivity Syndrome
- Cardiomyopathy
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
TP53
- Synovial Sarcoma
- Complete Androgen Insensitivity Syndrome
- Alcohol Intoxication
- Parkinsonism
- Cardiomyopathy
- Malignant Rhabdoid Tumour
- Ductal Carcinoma In Situ
KRT17
- Pachyonychia Congenita
- Ductal Carcinoma In Situ
PARK7
- Ankylosing Spondylitis
- Parkinsonism
DRD2
- Alcohol Intoxication
- Parkinsonism
TH
- Parkinsonism
PINK1
- Parkinsonism
PLN
- Cardiomyopathy
TNNT2
- Cardiomyopathy