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Diseases
Genes (573)
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ABHD5
Cerebral Creatine Deficiency
SALL4
Duane-Radial Ray Syndrome
GAMT
Guanidinoacetate Methyltransferase Deficiency
GJA1
Oculodentodigital Dysplasia
COL6A1
Bethlem Myopathy
FMR1
Disinhibition
Renpenning's Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
Fg Syndrome
TTPA
Familial Isolated Vitamin E Deficiency
ACADVL
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
MMUT
Methylmalonyl-Coa Mutase Deficiency
SLC17A5
Salla Disease
COL6A3
Bethlem Myopathy
COL6A2
Bethlem Myopathy
PQBP1
Renpenning's Syndrome
RECQL4
Baller–gerold Syndrome
MED12
Fg Syndrome
FAM20A
Enamel-Renal Syndrome
IDH1
Ollier Disease
UBE3B
Kaufman Oculocerebrofacial Syndrome
IDH2
Ollier Disease
IFIH1
Singleton Merten Syndrome