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Diseases
Genes (706)
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TTPA
Familial Isolated Vitamin E Deficiency
PQBP1
Renpenning's Syndrome
FAM20A
Enamel-Renal Syndrome
IFIH1
Singleton Merten Syndrome
MAGI2
Epileptic Encephalopathy, Early Infantile, 60
Adenoid Cystic Carcinoma
CDKL5
Epileptic Encephalopathy, Early Infantile, 60
Craniodiaphyseal Dysplasia
ARX
Epileptic Encephalopathy, Early Infantile, 60
STXBP1
Epileptic Encephalopathy, Early Infantile, 60
CD55
Protein Losing Enteropathy
ASS1
Citrullinemia Type I
TSC2
Epileptic Encephalopathy, Early Infantile, 60
PTEN
Thrombophlebitis
Protein Losing Enteropathy
Adenoid Cystic Carcinoma
SPTAN1
Epileptic Encephalopathy, Early Infantile, 60
SCN2A
Epileptic Encephalopathy, Early Infantile, 60
TP53
Adenoid Cystic Carcinoma
CTNS
Cystinosis
GRIN2B
Epileptic Encephalopathy, Early Infantile, 60
ST3GAL3
Epileptic Encephalopathy, Early Infantile, 60
CNPY3
Epileptic Encephalopathy, Early Infantile, 60
PLCB1
Epileptic Encephalopathy, Early Infantile, 60