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Diseases
Genes (1032)
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ABHD5
Cerebral Creatine Deficiency
GALT
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
GALE
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
GAMT
Guanidinoacetate Methyltransferase Deficiency
TTPA
Familial Isolated Vitamin E Deficiency
FOXP3
Ipex Syndrome
EFHC1
Myoclonic Epilepsy, Juvenile, Susceptibility To, 3
SLC2A10
Arterial Tortuosity Syndrome
Aneurysm
SLC26A2
Kyphosis
Multiple Epiphyseal Dysplasia
PRPS1
Kyphosis
Arts Syndrome
TMC6
Epidermodysplasia Verruciformis
PQBP1
Renpenning's Syndrome
GALK1
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
FAM20A
Enamel-Renal Syndrome
COL9A1
Multiple Epiphyseal Dysplasia
IFIH1
Singleton Merten Syndrome
PARP1
Alopecia, Androgenetic, 1
Kyphosis
GABRA1
Myoclonic Epilepsy, Juvenile, Susceptibility To, 3
SOST
Multiple Epiphyseal Dysplasia
Craniodiaphyseal Dysplasia
DMPK
Myotonic Dystrophy