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Diseases
Genes (1346)
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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