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Diseases
Genes (515)
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ASL
Argininosuccinic Aciduria
GALE
Galactose Epimerase Deficiency
Galactose-1-Phosphate Uridylyltransferase Deficiency
GALT
Galactose Epimerase Deficiency
Galactose-1-Phosphate Uridylyltransferase Deficiency
PMM2
Pmm2 Deficiency
POLG
Balo Concentric Sclerosis
FOXP3
Ipex Syndrome
SLC6A19
Hartnup Disease
MMUT
Methylmalonyl-Coa Mutase Deficiency
PQBP1
Renpenning's Syndrome
ALDH5A1
Succinic Semialdehyde Dehydrogenase Deficiency
PRPS1
Arts Syndrome
NGLY1
Ngly1 Deficiency
GALK1
Galactose Epimerase Deficiency
Galactose-1-Phosphate Uridylyltransferase Deficiency
DBH
Dopamine Beta Hydroxylase Deficiency
COL9A1
Multiple Epiphyseal Dysplasia
ACTG2
Berdon Syndrome
SOST
Multiple Epiphyseal Dysplasia
Craniodiaphyseal Dysplasia
MYH11
Berdon Syndrome
Aneurysm
MYLK
Berdon Syndrome
Aneurysm
DMPK
Myotonic Dystrophy