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Diseases
Genes (670)
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ABCA4
Unc119 Lipid-Binding Chaperone
Bietti's Crystalline Dystrophy
Stargardt Disease 4
PROM1
Unc119 Lipid-Binding Chaperone
Stargardt Disease 4
Cone-Rod Dystrophy 12
CYP4V2
Bietti's Crystalline Dystrophy
ATRX
Alpha-Thalassemia Mental Retardation Syndrome
SIX1
Branchiootorenal Syndrome 2
FMR1
Renpenning's Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
PQBP1
Renpenning's Syndrome
EYA1
Branchiootorenal Syndrome 2
PMM2
Pmm2 Deficiency
HARS1
Charcot-Marie-Tooth Disease, Axonal, Type 2w
Perrault Syndrome 2
Long Qt Syndrome 13
LARS2
Perrault Syndrome 2
LZTFL1
Unc119 Lipid-Binding Chaperone
Bardet-Biedl Syndrome 8
CLPP
Perrault Syndrome 2
MKS1
Bardet-Biedl Syndrome 8
PDGFRB
Chordoma, Susceptibility To
Primary Familial Brain Calcification
ASPM
Microcephaly 14, Primary, Autosomal Recessive
MAGEL2
Schaaf-Yang Syndrome
Bardet-Biedl Syndrome 8
SLC20A2
Primary Familial Brain Calcification
CAPN1
Spastic Paraplegia 76, Autosomal Recessive
GALE
Galactose Epimerase Deficiency