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Diseases
Genes (593)
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ABHD5
Cerebral Creatine Deficiency
GALT
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
GALE
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
GAMT
Guanidinoacetate Methyltransferase Deficiency
TTPA
Familial Isolated Vitamin E Deficiency
FOXP3
Ipex Syndrome
SLC2A10
Arterial Tortuosity Syndrome
Aneurysm
TMC6
Epidermodysplasia Verruciformis
PQBP1
Renpenning's Syndrome
GALK1
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
PRPS1
Arts Syndrome
FAM20A
Enamel-Renal Syndrome
AGGF1
Klippel-Trenaunay-Weber Syndrome
IFIH1
Singleton Merten Syndrome
COL9A1
Multiple Epiphyseal Dysplasia
SOST
Klippel-Trenaunay-Weber Syndrome
Multiple Epiphyseal Dysplasia
Craniodiaphyseal Dysplasia
TMC8
Epidermodysplasia Verruciformis
FLNA
Multiple Epiphyseal Dysplasia
Intestinal Neuronal Dysplasia
ASS1
Citrullinemia Type I
CTNS
Cystinosis