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Diseases
Genes (2007)
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GALT
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
GALE
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
RUNX2
Cleidocranial Dysplasia Spectrum Disorder
Rett Syndrome
Renpenning's Syndrome
ASL
Argininosuccinic Aciduria
FMR1
Mitral Valve Prolapse
Rett Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
Renpenning's Syndrome
Fg Syndrome
MECP2
Maple Syrup Urine Disease
Rett Syndrome
DBT
Maple Syrup Urine Disease
TTPA
Familial Isolated Vitamin E Deficiency
PMM2
Pmm2 Deficiency
PTCH1
Myotonic Dystrophy Type 1
Classic Medulloblastoma
CTNNB1
Classic Medulloblastoma
Oligodendroglioma
Bronchopulmonary Dysplasia
MED12
Mitral Valve Prolapse
Fg Syndrome
IFIH1
Singleton Merten Syndrome
Myotonic Dystrophy Type 1
SUFU
Classic Medulloblastoma
BCKDHB
Maple Syrup Urine Disease
BCKDHA
Maple Syrup Urine Disease
PQBP1
Renpenning's Syndrome
FAM20A
Enamel-Renal Syndrome
DMPK
Myotonic Dystrophy Type 1
GALK1
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency