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Diseases
Genes (541)
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ABHD5
Cerebral Creatine Deficiency
GAMT
Guanidinoacetate Methyltransferase Deficiency
TTPA
Familial Isolated Vitamin E Deficiency
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
IFIH1
Hepatitis E
Singleton Merten Syndrome
ACTG2
Berdon Syndrome
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
TRNL1
Merrf Syndrome
TRNP
Merrf Syndrome
TRNF
Merrf Syndrome
ASS1
Citrullinemia Type I
MYH11
Berdon Syndrome
MYLK
Berdon Syndrome