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Diseases
Genes (509)
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ASL
Argininosuccinic Aciduria
PMM2
Pmm2 Deficiency
ATRX
Alpha-Thalassemia Mental Retardation Syndrome
TTPA
Familial Isolated Vitamin E Deficiency
F12
Factor Xii Deficiency
WRN
Werner Syndrome
SIX1
Branchio-Oto-Renal Syndrome
MED12
Alpha-Thalassemia Mental Retardation Syndrome
Fg Syndrome
PQBP1
Renpenning's Syndrome
EYA1
Branchio-Oto-Renal Syndrome
UBE3B
Kaufman Oculocerebrofacial Syndrome
FAM20A
Enamel-Renal Syndrome
RHBDF2
Howel–evans Syndrome
IFIH1
Singleton Merten Syndrome
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
SEC23B
Congenital Dyserythropoietic Anemia
ASS1
Argininosuccinic Aciduria
Citrullinemia Type I
KLF1
Congenital Dyserythropoietic Anemia
SIX5
Branchio-Oto-Renal Syndrome
CTNS
Cystinosis