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Diseases
Genes (472)
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COL2A1
Collagen, Type Ii, Alpha-1
Multiple Epiphyseal Dysplasia
GALT
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
GALE
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
POLG
Balo Concentric Sclerosis
TTPA
Familial Isolated Vitamin E Deficiency
FOXP3
Ipex Syndrome
SLC2A10
Arterial Tortuosity Syndrome
Aneurysm
FLNA
Multiple Epiphyseal Dysplasia
Intestinal Neuronal Dysplasia
Fg Syndrome
MMUT
Methylmalonyl-Coa Mutase Deficiency
PQBP1
Renpenning's Syndrome
GALK1
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
MED12
Fg Syndrome
PRPS1
Arts Syndrome
FAM20A
Enamel-Renal Syndrome
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
COL9A1
Multiple Epiphyseal Dysplasia
PAH
Phenylketonuria
Galactose-1-Phosphate Uridylyltransferase Deficiency
ACTG2
Berdon Syndrome
SOST
Multiple Epiphyseal Dysplasia
Craniodiaphyseal Dysplasia