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Diseases
Genes (547)
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SLC7A9
Cystinuria
SLC3A1
Cystinuria
ASL
Argininosuccinic Aciduria
PMM2
Pmm2 Deficiency
SLC6A19
Hartnup Disease
TTPA
Familial Isolated Vitamin E Deficiency
SLC12A6
Andermann Syndrome
GFPT1
Myasthenic Syndrome, Congenital, 12
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
SLC17A5
Salla Disease
AGRN
Myasthenic Syndrome, Congenital, 12
SCN4A
Myasthenic Syndrome, Congenital, 12
NGLY1
Ngly1 Deficiency
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
CTNS
Cystinosis
SLC18A3
Myasthenic Syndrome, Congenital, 12
ACTG2
Berdon Syndrome