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Diseases
Genes (505)
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EFHC1
Juvenile Myoclonic Epilepsy
TTPA
Familial Isolated Vitamin E Deficiency
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
SLC17A5
Salla Disease
FAM20A
Enamel-Renal Syndrome
NGLY1
Ngly1 Deficiency
UBE3B
Kaufman Oculocerebrofacial Syndrome
GABRA1
Juvenile Myoclonic Epilepsy
IFIH1
Singleton Merten Syndrome
ACTG2
Berdon Syndrome
AGGF1
Klippel-Trenaunay-Weber Syndrome
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
DMPK
Myotonic Dystrophy
ASS1
Citrullinemia Type I
CACNB4
Juvenile Myoclonic Epilepsy
JRK
Juvenile Myoclonic Epilepsy
MYH11
Berdon Syndrome
MYLK
Berdon Syndrome
CTNS
Cystinosis