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PNP
- Purine Nucleoside Phosphorylase Deficiency
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
ARX
- Epileptic Encephalopathy, Early Infantile, 53
GNA11
- Uveal Melanoma
BAP1
- Uveal Melanoma
GNAQ
- Uveal Melanoma
SS18
- Synovial Sarcoma
NR5A1
- Xy Gonadal Dysgenesis
- Gonadotropin-Resistant Ovary Syndrome
COL11A2
- Deafness, Autosomal Recessive 53
- Uveal Melanoma
PIGG
- Mental Retardation, Autosomal Recessive 53
WT1
- Xy Gonadal Dysgenesis
- Gonadotropin-Resistant Ovary Syndrome
SF3B1
- Uveal Melanoma
BCL2
- Synovial Sarcoma
- Uveal Melanoma
GNAO1
- Epileptic Encephalopathy, Early Infantile, 53
CYSLTR2
- Uveal Melanoma
CDKL5
- Epileptic Encephalopathy, Early Infantile, 53
SIK1
- Epileptic Encephalopathy, Early Infantile, 53
EWSR1
- Synovial Sarcoma
- Clear Cell Carcinoma
- Hidradenoma
IL23R
- Ankylosing Spondylitis