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Diseases
Genes (839)
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PRNP
Variant Creutzfeldt–jakob Disease
Kuru, Susceptibility To
Akinetic Mutism
TTR
Hereditary Transthyretin Amyloidosis
Fabry Disease
GLA
Fabry Disease
PORCN
Focal Dermal Hypoplasia
SALL4
Duane-Radial Ray Syndrome
CREBBP
Rubinstein-Taybi Syndrome
WNT5A
Ror2-Related Robinow Syndrome
SLC4A1
Southeast Asian Ovalocytosis
SKI
Shprintzen-Goldberg Syndrome
TTN
Salih Myopathy
TEK
Multiple Cutaneous And Mucosal Venous Malformations
ENPP1
Generalized Arterial Calcification Of Infancy
COL4A3
Alport Syndrome
COL4A5
Alport Syndrome
FBN1
Shprintzen-Goldberg Syndrome
Hereditary Transthyretin Amyloidosis
Aneurysm
AGGF1
Klippel-Trenaunay-Weber Syndrome
LIPA
Lysosomal Acid Lipase Deficiency
EP300
Rubinstein-Taybi Syndrome
ABCC6
Generalized Arterial Calcification Of Infancy
DVL3
Ror2-Related Robinow Syndrome