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MAGEL2
- Prader–willi Syndrome
ATXN10
- Spinocerebellar Ataxia 10
TOR1A
- Blepharospasm
- Torsion Dystonia With Onset In Infancy
EIF2AK4
- Pulmonary Capillary Hemangiomatosis
SNRPN
- Prader–willi Syndrome
SSX2
- Synovial Sarcoma
- Leiomyosarcoma
SSX1
- Synovial Sarcoma
SS18
- Synovial Sarcoma
NDN
- Prader–willi Syndrome
BCL2
- Synovial Sarcoma
- Leiomyosarcoma
- Esthesioneuroblastoma
- Primary Ovarian Insufficiency
HLA-B
- Severe Acute Respiratory Syndrome
- Ankylosing Spondylitis
IL23R
- Ankylosing Spondylitis
ANTXR2
- Ankylosing Spondylitis
ERAP1
- Ankylosing Spondylitis
CARD9
- Mucormycosis
- Ankylosing Spondylitis
FMR1
- Prader–willi Syndrome
- Primary Ovarian Insufficiency
MKRN3
- Prader–willi Syndrome
VIM
- Synovial Sarcoma
- Leiomyosarcoma
- Ankylosing Spondylitis
BMP15
- Primary Ovarian Insufficiency
NR5A1
- Primary Ovarian Insufficiency