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Diseases
Genes (591)
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GALT
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
GALE
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
POLG
Balo Concentric Sclerosis
FOXP3
Ipex Syndrome
TTPA
Familial Isolated Vitamin E Deficiency
SLC2A10
Arterial Tortuosity Syndrome
Aneurysm
FLNA
Multiple Epiphyseal Dysplasia
Intestinal Neuronal Dysplasia
Fg Syndrome
MMUT
Methylmalonyl-Coa Mutase Deficiency
GALK1
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
PRPS1
Arts Syndrome
FAM20A
Enamel-Renal Syndrome
AGGF1
Klippel-Trenaunay-Weber Syndrome
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
COL9A1
Multiple Epiphyseal Dysplasia
ACTG2
Berdon Syndrome
SOST
Klippel-Trenaunay-Weber Syndrome
Multiple Epiphyseal Dysplasia
Craniodiaphyseal Dysplasia
MYH11
Aneurysm
Berdon Syndrome