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SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
POMC
- Myasthenia Gravis
- Androgen Deficiency
- Hypogonadism
- Prader–willi Syndrome
- Hypocalcaemia
- Hypoglycemia
- Proteinuria
MAGEL2
- Hypogonadism
- Prader–willi Syndrome
SS18
- Synovial Sarcoma
SNRPN
- Hypogonadism
- Prader–willi Syndrome
CLDN16
- Hypocalcaemia
- Hypomagnesemia 3, Renal
TACR3
- Hypogonadism
OCRL
- Dent's Disease
- Proteinuria
LEP
- Iron-Deficiency Anemia
- Hypogonadism
- Prader–willi Syndrome
- Hypoglycemia
- Proteinuria
- Acquired Generalized Lipodystrophy
LMF1
- Lipase Deficiency, Combined
FAS
- Myasthenia Gravis
- Iron-Deficiency Anemia
- Proteinuria
HLA-DQA1
- Myasthenia Gravis
- Iron-Deficiency Anemia
- Hypocalcaemia
- Proteinuria
HLA-B
- Myasthenia Gravis
- Proteinuria
SLCO1B1
- Neonatal Jaundice
- Prediabetes
- Rotor Syndrome
GNRHR
- Hypogonadism
NDN
- Hypogonadism
- Prader–willi Syndrome
BCL2
- Synovial Sarcoma
- Myasthenia Gravis
HLA-DRB1
- Myasthenia Gravis
- Microalbuminuria
- Leptospirosis
- Proteinuria
GNRH1
- Hypogonadism