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Diseases
Genes (507)
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ASL
Argininosuccinic Aciduria
TTPA
Familial Isolated Vitamin E Deficiency
PMM2
Pmm2 Deficiency
Epileptic Encephalopathy, Early Infantile, 60
COL2A1
Collagen, Type Ii, Alpha-1
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
CDKL5
Epileptic Encephalopathy, Early Infantile, 60
Craniodiaphyseal Dysplasia
FLNA
Epileptic Encephalopathy, Early Infantile, 60
Intestinal Neuronal Dysplasia
Fg Syndrome
DMPK
Myotonic Dystrophy
PAH
Phenylketonuria
ASS1
Argininosuccinic Aciduria
Citrullinemia Type I
ARX
Epileptic Encephalopathy, Early Infantile, 60
STXBP1
Epileptic Encephalopathy, Early Infantile, 60
TSC2
Epileptic Encephalopathy, Early Infantile, 60
CTNS
Cystinosis
SPTAN1
Epileptic Encephalopathy, Early Infantile, 60
SCN2A
Epileptic Encephalopathy, Early Infantile, 60