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Diseases
Genes (916)
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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
PMM2
Pmm2 Deficiency
ATRX
Alpha-Thalassemia Mental Retardation Syndrome
ASL
Argininosuccinic Aciduria
SLC40A1
Hemochromatosis Type 4
SLC12A6
Andermann Syndrome
FMR1
Renpenning's Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
PQBP1
Renpenning's Syndrome
CRX
Pinealoblastoma
Stargardt Disease 4
Cone-Rod Dystrophy 11
PDGFRB
Primary Familial Brain Calcification
Chordoma, Susceptibility To
SLC20A2
Primary Familial Brain Calcification
GALE
Galactose Epimerase Deficiency
MAGEL2
Schaaf-Yang Syndrome
ZNF335
Microcephaly 10, Primary, Autosomal Recessive
FARS2
Spastic Paraplegia 77, Autosomal Recessive
PRPH2
Stargardt Disease 4
Cone-Rod Dystrophy 11
TBXT
Chordoma, Susceptibility To
CFH
Stargardt Disease 4
Membranoproliferative Glomerulonephritis
GSTZ1
Maleylacetoacetate Isomerase Deficiency