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STAT4
- Primary Biliary Cholangitis
- Systemic Scleroderma
- Nephritis
- Cataract
- Ankylosing Spondylitis
SCN5A
- Brugada Syndrome 3
NFE2L2
- Primary Ovarian Insufficiency
- Primary Biliary Cholangitis
- Parkinsonism
- Systemic Scleroderma
- Nephritis
- Gonadotropin-Resistant Ovary Syndrome
- Cataract
FMR1
- Primary Ovarian Insufficiency
- Parkinsonism
- Gonadotropin-Resistant Ovary Syndrome
- Prader–willi Syndrome
TREX1
- Systemic Scleroderma
- Nephritis
- Aicardi–goutières Syndrome
HLA-B
- Primary Biliary Cholangitis
- Severe Acute Respiratory Syndrome
- Parkinsonism
- Systemic Scleroderma
- Nephritis
- Cataract
- Ankylosing Spondylitis
SCN10A
- Brugada Syndrome 3
IRF5
- Primary Biliary Cholangitis
- Systemic Scleroderma
MAGEL2
- Prader–willi Syndrome
NR5A1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
SMARCB1
- Synovial Sarcoma
- Cataract
- Malignant Rhabdoid Tumour
WT1
- Primary Ovarian Insufficiency
- Gonadotropin-Resistant Ovary Syndrome
- Cataract
MAPT
- Primary Biliary Cholangitis
- Parkinsonism
KCNJ8
- Brugada Syndrome 3
- Parkinsonism
ABCC9
- Brugada Syndrome 3
- Parkinsonism
ACE
- Primary Ovarian Insufficiency
- Primary Biliary Cholangitis
- Severe Acute Respiratory Syndrome
- Systemic Scleroderma
- Nephritis
- Synovial Sarcoma
- Cataract
- Ankylosing Spondylitis
SNRPN
- Prader–willi Syndrome
IL12A
- Primary Biliary Cholangitis
- Systemic Scleroderma
- Cataract
PKP2
- Brugada Syndrome 3
ALB
- Primary Ovarian Insufficiency
- Primary Biliary Cholangitis
- Systemic Scleroderma
- Nephritis
- Synovial Sarcoma
- Cataract
- Ankylosing Spondylitis