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Diseases
Genes (507)
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ABHD5
Cerebral Creatine Deficiency
GAMT
Guanidinoacetate Methyltransferase Deficiency
TTPA
Familial Isolated Vitamin E Deficiency
ATP7B
Wilson's Disease
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
SLC17A5
Wilson's Disease
Salla Disease
OPA1
Behr Syndrome
Wilson's Disease
FAM20A
Enamel-Renal Syndrome
NGLY1
Ngly1 Deficiency
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
ACTG2
Berdon Syndrome
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
ASS1
Citrullinemia Type I
MYH11
Berdon Syndrome
MYLK
Berdon Syndrome
CTNS
Cystinosis
ANXA5
Wilson's Disease
SRD5A2
Alopecia, Androgenetic, 1