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AR
- Hypercholesterolemia
- Ankylosing Spondylitis
- Prader–willi Syndrome
- Complete Androgen Insensitivity Syndrome
APOB
- Hypercholesterolemia
LDLR
- Hypercholesterolemia
ATXN2
- Ankylosing Spondylitis
- Spinocerebellar Ataxia Type 2
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
MAGEL2
- Prader–willi Syndrome
SNRPN
- Prader–willi Syndrome
SS18
- Synovial Sarcoma
LEP
- Hypercholesterolemia
- Ankylosing Spondylitis
- Prader–willi Syndrome
- Complete Androgen Insensitivity Syndrome
KRT17
- Pachyonychia Congenita
APOE
- Hypercholesterolemia
- Complete Androgen Insensitivity Syndrome
PCSK9
- Hypercholesterolemia
CYP7A1
- Hypercholesterolemia
LPL
- Hypercholesterolemia
NR5A1
- Xy Gonadal Dysgenesis
- Gonadotropin-Resistant Ovary Syndrome
- Complete Androgen Insensitivity Syndrome
KRT16
- Pachyonychia Congenita
HMGCR
- Hypercholesterolemia
WT1
- Xy Gonadal Dysgenesis
- Gonadotropin-Resistant Ovary Syndrome
NDN
- Prader–willi Syndrome