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Diseases
Genes (1280)
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PROM1
Stargardt Disease 4
Cone-Rod Dystrophy 12
Cone-Rod Dystrophy 11
Macular Dystrophy, Retinal, 2
ABCA4
Stargardt Disease 4
Cone-Rod Dystrophy 11
EFHC1
Juvenile Myoclonic Epilepsy
ABHD5
Cerebral Creatine Deficiency
ATRX
Alpha-Thalassemia Mental Retardation Syndrome
GAMT
Guanidinoacetate Methyltransferase Deficiency
FMR1
Renpenning's Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
PQBP1
Renpenning's Syndrome
PMM2
Pmm2 Deficiency
CRX
Pinealoblastoma
Stargardt Disease 4
Cone-Rod Dystrophy 11
PDGFRB
Cerebral Creatine Deficiency
Chordoma, Susceptibility To
Bronchopulmonary Dysplasia
Primary Familial Brain Calcification
GABRA1
Juvenile Myoclonic Epilepsy
SLC20A2
Primary Familial Brain Calcification
GALE
Galactose Epimerase Deficiency
MAGEL2
Schaaf-Yang Syndrome
PRPH2
Bronchopulmonary Dysplasia
Stargardt Disease 4
Pneumothorax
Cone-Rod Dystrophy 11
ZNF335
Microcephaly 10, Primary, Autosomal Recessive
FARS2
Spastic Paraplegia 77, Autosomal Recessive
TBXT
Chordoma, Susceptibility To
TFG
Hypoesthesia
Extraskeletal Myxoid Chondrosarcoma