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Diseases
Genes (819)
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ABHD5
Cerebral Creatine Deficiency
GAMT
Guanidinoacetate Methyltransferase Deficiency
TTPA
Familial Isolated Vitamin E Deficiency
ATP7B
Wilson's Disease
SLC12A6
Andermann Syndrome
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
SLC17A5
Wilson's Disease
Salla Disease
FAM20A
Enamel-Renal Syndrome
NGLY1
Ngly1 Deficiency
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
ACTG2
Berdon Syndrome
FLNA
Dandy-Walker Syndrome
Intestinal Neuronal Dysplasia
Fg Syndrome
TRNL1
Merrf Syndrome
DMPK
Myotonic Dystrophy
TRNP
Merrf Syndrome
TRNF
Merrf Syndrome
FOXC1
Dandy-Walker Syndrome
ASS1
Citrullinemia Type I