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FMR1
- Fragile X-Associated Tremor/ataxia Syndrome
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Huntington's Disease
NR5A1
- Gonadotropin-Resistant Ovary Syndrome
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Huntington's Disease
ABCA4
- Cone-Rod Dystrophy 3
- Severe Acute Respiratory Syndrome
PNP
- Purine Nucleoside Phosphorylase Deficiency
- Huntington's Disease
HTT
- Machado–joseph Disease
- Huntington's Disease
WT1
- Gonadotropin-Resistant Ovary Syndrome
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
NFE2L2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
- Machado–joseph Disease
- Huntington's Disease
CACNA1A
- Childhood Absence Epilepsy
- Machado–joseph Disease
- Huntington's Disease
ATXN3
- Machado–joseph Disease
- Huntington's Disease
BAP1
- Uveal Melanoma
- Huntington's Disease
GNA11
- Uveal Melanoma
GNAQ
- Uveal Melanoma
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
BCL2
- Synovial Sarcoma
- Gestational Trophoblastic Disease
- Primary Ovarian Insufficiency
- Uveal Melanoma
- Esthesioneuroblastoma
- Huntington's Disease
PPP2R2B
- Fragile X-Associated Tremor/ataxia Syndrome
- Spinocerebellar Ataxia 12
POU5F1
- Gestational Trophoblastic Disease
- Primary Ovarian Insufficiency
- Uveal Melanoma
- Huntington's Disease
SS18
- Synovial Sarcoma
CYP2C19
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency
XPNPEP2
- Gonadotropin-Resistant Ovary Syndrome
- Primary Ovarian Insufficiency