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NR5A1
- Gonadotropin-Resistant Ovary Syndrome
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
WT1
- Gonadotropin-Resistant Ovary Syndrome
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
MAGEL2
- Tongue Thrust
- Prader–willi Syndrome
PNP
- Purine Nucleoside Phosphorylase Deficiency
SNRPN
- Prader–willi Syndrome
- Amyotrophic Lateral Sclerosis
FMR1
- Gonadotropin-Resistant Ovary Syndrome
- Prader–willi Syndrome
- Primary Ovarian Insufficiency
- Amyotrophic Lateral Sclerosis
NFE2L2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Amyotrophic Lateral Sclerosis
GNAQ
- Prader–willi Syndrome
- Uveal Melanoma
GNA11
- Uveal Melanoma
BAP1
- Uveal Melanoma
ATXN2
- Ankylosing Spondylitis
- Amyotrophic Lateral Sclerosis
CYP2C19
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
XPNPEP2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
C9orf72
- Amyotrophic Lateral Sclerosis
SOD1
- Amyotrophic Lateral Sclerosis
PON1
- Ankylosing Spondylitis
- Amyotrophic Lateral Sclerosis
SQSTM1
- Ankylosing Spondylitis
- Uveal Melanoma
- Amyotrophic Lateral Sclerosis
OPTN
- Salmonellosis
- Amyotrophic Lateral Sclerosis
FUS
- Amyotrophic Lateral Sclerosis
TARDBP
- Amyotrophic Lateral Sclerosis