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Diseases
Genes (445)
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EFHC1
Juvenile Myoclonic Epilepsy
TTPA
Familial Isolated Vitamin E Deficiency
COL2A1
Collagen, Type Ii, Alpha-1
UROD
Porphyria Cutanea Tarda
CYP21A2
Late Onset Congenital Adrenal Hyperplasia
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
GABRA1
Juvenile Myoclonic Epilepsy
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
CYP17A1
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
ACTG2
Berdon Syndrome
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
PAH
Phenylketonuria
HFE
Porphyria Cutanea Tarda
CACNB4
Juvenile Myoclonic Epilepsy
JRK
Juvenile Myoclonic Epilepsy
ASS1
Citrullinemia Type I
MYH11
Berdon Syndrome