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KRT17
- Pachyonychia Congenita
- Epithelioma
TBX1
- Digeorge Syndrome
- Microcephaly
SLC6A4
- Synovial Sarcoma
- Prader–willi Syndrome
- Parkinsonism
- Sudden Infant Death Syndrome
MAGEL2
- Prader–willi Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
KRT16
- Pachyonychia Congenita
COMT
- Digeorge Syndrome
- Parkinsonism
- Microcephaly
- Primary Ovarian Insufficiency
SNRPN
- Prader–willi Syndrome
SS18
- Synovial Sarcoma
CEP63
- Prader–willi Syndrome
- Microcephaly
SCN5A
- Sudden Infant Death Syndrome
AICDA
- Ankylosing Spondylitis
- Hyper-Igm Syndrome Type 2
TH
- Parkinsonism
- Sudden Infant Death Syndrome
PINK1
- Digeorge Syndrome
- Parkinsonism
MAPT
- Parkinsonism
PARK7
- Parkinsonism
- Ankylosing Spondylitis
KCNJ8
- Parkinsonism
- Sudden Infant Death Syndrome
NDN
- Prader–willi Syndrome
KRT6A
- Pachyonychia Congenita