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NR5A1
- Xy Gonadal Dysgenesis
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
CARD9
- Candidiasis, Familial, 8
- Ankylosing Spondylitis
- Candidiasis, Familial, 2
WT1
- Xy Gonadal Dysgenesis
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
FMR1
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Prader–willi Syndrome
- Sinusitis
MAGEL2
- Prader–willi Syndrome
SLC6A4
- Synovial Sarcoma
- Sudden Infant Death Syndrome
- Prader–willi Syndrome
SCN5A
- Sudden Infant Death Syndrome
NIPBL
- Cornelia De Lange Syndrome 5
SUN5
- Spermatogenic Failure 31
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
SNRPN
- Prader–willi Syndrome
RAD21
- Barrett's Esophagus
- Cornelia De Lange Syndrome 5
CYP2C19
- Gonadotropin-Resistant Ovary Syndrome
- Sudden Infant Death Syndrome
- Primary Ovarian Insufficiency
XPNPEP2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
NFE2L2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Barrett's Esophagus
PTGS2
- Synovial Sarcoma
- Marasmus
- Ankylosing Spondylitis
- Barrett's Esophagus
- Guillain–barré Syndrome
SS18
- Synovial Sarcoma
SRY
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Triple X Syndrome
CLEC7A
- Candidiasis, Familial, 8
- Candidiasis, Familial, 2