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WT1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Wilms' Tumor
- Down Syndrome
TP53
- Synovial Sarcoma
- Machado–joseph Disease
- Choroid Plexus Carcinoma
- Wilms' Tumor
- Down Syndrome
- Bronchopulmonary Dysplasia
FMR1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Prader–willi Syndrome
- Hypothyroidism
- Down Syndrome
- Sinusitis
PNP
- Purine Nucleoside Phosphorylase Deficiency
- Sinusitis
NR5A1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Wilms' Tumor
MAGEL2
- Prader–willi Syndrome
- Hypothyroidism
IL1B
- Primary Ovarian Insufficiency
- Synovial Sarcoma
- Ankylosing Spondylitis
- Salmonellosis
- Miscarriage
- Down Syndrome
- Sinusitis
- Bronchopulmonary Dysplasia
NFE2L2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Machado–joseph Disease
- Wilms' Tumor
- Down Syndrome
- Bronchopulmonary Dysplasia
IGF2
- Synovial Sarcoma
- Miscarriage
- Wilms' Tumor
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
SNRPN
- Prader–willi Syndrome
GPC3
- Wilms' Tumor
CYP2C19
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
XPNPEP2
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
IGF1
- Synovial Sarcoma
- Ankylosing Spondylitis
- Prader–willi Syndrome
- Hypothyroidism
- Miscarriage
- Wilms' Tumor
- Bronchopulmonary Dysplasia
IL12B
- Ankylosing Spondylitis
- Salmonellosis
- Miscarriage
APOE
- Machado–joseph Disease
- Hypothyroidism
- Miscarriage
- Down Syndrome
- Bronchopulmonary Dysplasia
MTHFR
- Primary Ovarian Insufficiency
- Synovial Sarcoma
- Cerebral Softening
- Ankylosing Spondylitis
- Hypothyroidism
- Miscarriage
- Wilms' Tumor
- Down Syndrome
- Bronchopulmonary Dysplasia
ATXN3
- Machado–joseph Disease