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Diseases
Genes (321)
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ASL
Argininosuccinic Aciduria
PMM2
Pmm2 Deficiency
TTPA
Familial Isolated Vitamin E Deficiency
OPN1LW
Blue Cone Monochromatism
SLC12A6
Andermann Syndrome
CP
Aceruloplasminemia
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
SLC17A5
Salla Disease
NGLY1
Ngly1 Deficiency
OPN1MW
Blue Cone Monochromatism
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
ACTG2
Berdon Syndrome
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
ASS1
Argininosuccinic Aciduria
Citrullinemia Type I
MYH11
Berdon Syndrome
MYLK
Berdon Syndrome
CTNS
Cystinosis