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Diseases
Genes (351)
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TTPA
Familial Isolated Vitamin E Deficiency
F12
Factor Xii Deficiency
COL2A1
Collagen, Type Ii, Alpha-1
SLC12A6
Andermann Syndrome
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
SLC17A5
Salla Disease
PMM2
Pmm2 Deficiency
NGLY1
Ngly1 Deficiency
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
AGGF1
Klippel-Trenaunay-Weber Syndrome
ACTG2
Berdon Syndrome
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
PAH
Phenylketonuria
ASS1
Citrullinemia Type I
MYH11
Berdon Syndrome
MYLK
Berdon Syndrome
CTNS
Cystinosis