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TP53
- Down Syndrome
- Synovial Sarcoma
- Thrombocythemia 3
- Myxoid Liposarcoma
- Turner Syndrome
- Hiv/aids
- Li–fraumeni Syndrome
- Non-Alcoholic Fatty Liver Disease
JAK2
- Down Syndrome
- Primary Ovarian Insufficiency
- Thrombocythemia 3
- Non-Alcoholic Fatty Liver Disease
NR5A1
- Primary Ovarian Insufficiency
- Turner Syndrome
- Gonadal Dysgenesis
SPAST
- Spastic Paraplegia 4, Autosomal Dominant
SOD1
- Down Syndrome
- Turner Syndrome
- Hiv/aids
- Non-Alcoholic Fatty Liver Disease
ACE
- Severe Acute Respiratory Syndrome
- Synovial Sarcoma
- Primary Ovarian Insufficiency
- Thrombocythemia 3
- Lymphangioleiomyomatosis
- Non-Alcoholic Fatty Liver Disease
SSX2
- Synovial Sarcoma
- Myxoid Liposarcoma
SSX1
- Synovial Sarcoma
FMR1
- Down Syndrome
- Primary Ovarian Insufficiency
- Gonadal Dysgenesis
- Restless Legs Syndrome
TSC2
- Down Syndrome
- Lymphangioleiomyomatosis
CDKN2A
- Down Syndrome
- Synovial Sarcoma
- Trisomy
- Myxoid Liposarcoma
- Li–fraumeni Syndrome
- Non-Alcoholic Fatty Liver Disease
SETX
- Primary Ovarian Insufficiency
- Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
NFE2L2
- Down Syndrome
- Primary Ovarian Insufficiency
- Non-Alcoholic Fatty Liver Disease
SS18
- Synovial Sarcoma
- Myxoid Liposarcoma
TSC1
- Primary Ovarian Insufficiency
- Lymphangioleiomyomatosis
CAT
- Down Syndrome
- Turner Syndrome
- Non-Alcoholic Fatty Liver Disease
TTN
- Down Syndrome
- Cardiomyopathy, Dilated, 1i
TGFB1
- Down Syndrome
- Synovial Sarcoma
- Thrombocythemia 3
- Non-Alcoholic Fatty Liver Disease
SRY
- Down Syndrome
- Primary Ovarian Insufficiency
- Turner Syndrome
- Gonadal Dysgenesis
- 45,x/46,xy Mosaicism
CHEK2
- Thrombocythemia 3
- Li–fraumeni Syndrome