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Diseases
Genes (1026)
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PROM1
Stargardt Disease 4
Cone-Rod Dystrophy 12
Cone-Rod Dystrophy 11
Macular Dystrophy, Retinal, 2
PRPH2
Stargardt Disease 4
Cone-Rod Dystrophy 11
Macular Dystrophy, Patterned, 1
Macular Dystrophy, Vitelliform, 3
MAGEL2
Schaaf-Yang Syndrome
Schaaf-Yang Syndrome
ABCA4
Stargardt Disease 4
Cone-Rod Dystrophy 11
PMM2
Pmm2 Deficiency
ATRX
Alpha-Thalassemia Mental Retardation Syndrome
ASL
Argininosuccinic Aciduria
SLC40A1
Hemochromatosis Type 4
SH2D1A
Lymphoproliferative Syndrome, X-Linked, 2
FMR1
Renpenning's Syndrome
Fragile X-Associated Tremor/ataxia Syndrome
Schaaf-Yang Syndrome
PQBP1
Renpenning's Syndrome
CEACAM16
Deafness, Autosomal Dominant 4a
Deafness, Autosomal Dominant 4b
CRX
Pinealoblastoma
Stargardt Disease 4
Cone-Rod Dystrophy 11
SLC2A1
Glucose Transporter Type 1 Deficiency Syndrome
Basal-Like Carcinoma
SNRPN
Cone-Rod Dystrophy 11
Schaaf-Yang Syndrome
PDGFRB
Primary Familial Brain Calcification
Chordoma, Susceptibility To
SLC20A2
Primary Familial Brain Calcification
GALE
Galactose Epimerase Deficiency
SLC26A4
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
ZNF335
Microcephaly 10, Primary, Autosomal Recessive