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IFNG
- Synovial Sarcoma
- Severe Acute Respiratory Syndrome
- Cardiomyopathy
- Aplastic Anemia
- Pneumatocele
VPS13A
- Neuroacanthocytosis
NR5A1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
MAGEL2
- Tongue Thrust
- Prader–willi Syndrome
GJA3
- Cataract 14, Multiple Types
SS18
- Synovial Sarcoma
WT1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Aplastic Anemia
TNF
- Synovial Sarcoma
- Severe Acute Respiratory Syndrome
- Primary Ovarian Insufficiency
- Cardiomyopathy
- Aplastic Anemia
- African Trypanosomiasis
- Prader–willi Syndrome
SNRPN
- Microdeletion Syndrome
- Prader–willi Syndrome
TERT
- Primary Ovarian Insufficiency
- Aplastic Anemia
DMD
- Cardiomyopathy
- Prader–willi Syndrome
RPS14
- Chromosome 5q Deletion Syndrome
PLN
- Cardiomyopathy
TNNT2
- Cardiomyopathy
MYBPC3
- Cardiomyopathy
TNNI3
- Cardiomyopathy
SRY
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Triple X Syndrome
BCL2
- Synovial Sarcoma
- Primary Ovarian Insufficiency
- Aplastic Anemia
- Edwards Syndrome