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Diseases
Genes (472)
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PAX6
Aniridia 2
ASL
Argininosuccinic Aciduria
PMM2
Pmm2 Deficiency
TTPA
Familial Isolated Vitamin E Deficiency
POLG
Balo Concentric Sclerosis
F12
Factor Xii Deficiency
SLC12A6
Andermann Syndrome
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
SLC17A5
Salla Disease
NGLY1
Ngly1 Deficiency
UBE3B
Kaufman Oculocerebrofacial Syndrome
TRIM44
Aniridia 2
IFIH1
Singleton Merten Syndrome
ACTG2
Berdon Syndrome
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
WT1
Aniridia 2
ASS1
Argininosuccinic Aciduria
Citrullinemia Type I
FOXC1
Aniridia 2