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Diseases
Genes (663)
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CYP4V2
Bietti's Crystalline Dystrophy
MYO5B
Microvillus Inclusion Disease
SIX1
Branchiootorenal Syndrome 2
EYA1
Branchiootorenal Syndrome 2
NLRP3
Muckle–wells Syndrome
ND5
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
LARS2
Perrault Syndrome 2
HARS1
Charcot-Marie-Tooth Disease, Axonal, Type 2w
Perrault Syndrome 2
LZTFL1
Unc119 Lipid-Binding Chaperone
Bardet-Biedl Syndrome 8
CLPP
Perrault Syndrome 2
MKS1
Bardet-Biedl Syndrome 8
ND1
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
ACTG2
Berdon Syndrome
ASPM
Microcephaly 14, Primary, Autosomal Recessive
CAPN1
Spastic Paraplegia 76, Autosomal Recessive
CDK5RAP2
Microcephaly 14, Primary, Autosomal Recessive
BBS10
Bardet-Biedl Syndrome 8
ND6
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
DHTKD1
2-Aminoadipic 2-Oxoadipic Aciduria
SDCCAG8
Bardet-Biedl Syndrome 8