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VPS13A
- Neuroacanthocytosis
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
MAGEL2
- Prader–willi Syndrome
SS18
- Synovial Sarcoma
SNRPN
- Microdeletion Syndrome
- Prader–willi Syndrome
- Imbecile
FMR1
- Primary Ovarian Insufficiency
- Prader–willi Syndrome
- Imbecile
RPS14
- Chromosome 5q Deletion Syndrome
- Monosomy
KRT17
- Pachyonychia Congenita
BCL2
- Synovial Sarcoma
- Primary Ovarian Insufficiency
- Edwards Syndrome
NDN
- Prader–willi Syndrome
KRT16
- Pachyonychia Congenita
ACE
- Severe Acute Respiratory Syndrome
- Synovial Sarcoma
- Primary Ovarian Insufficiency
- Ankylosing Spondylitis
GDF9
- Primary Ovarian Insufficiency
- Triple X Syndrome
HLA-B
- Severe Acute Respiratory Syndrome
- Ankylosing Spondylitis
BMP15
- Primary Ovarian Insufficiency
NR5A1
- Primary Ovarian Insufficiency
POF1B
- Primary Ovarian Insufficiency
NOBOX
- Primary Ovarian Insufficiency
IL23R
- Ankylosing Spondylitis