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Diseases
Genes (588)
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ABHD5
Cerebral Creatine Deficiency
TTPA
Familial Isolated Vitamin E Deficiency
GAMT
Guanidinoacetate Methyltransferase Deficiency
COL2A1
Collagen, Type Ii, Alpha-1
PQBP1
Renpenning's Syndrome
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
NGLY1
Ngly1 Deficiency
UBE3B
Kaufman Oculocerebrofacial Syndrome
IFIH1
Singleton Merten Syndrome
ACTG2
Berdon Syndrome
DMPK
Myotonic Dystrophy
FLNA
Intestinal Neuronal Dysplasia
Fg Syndrome
PAH
Phenylketonuria
ASS1
Citrullinemia Type I
MYH11
Berdon Syndrome
MYLK
Berdon Syndrome
CTNS
Cystinosis
SRD5A2
Alopecia, Androgenetic, 1
AR
Alopecia, Androgenetic, 1