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Diseases
Genes (924)
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ASL
Argininosuccinic Aciduria
SLC6A19
Hartnup Disease
FBN2
Congenital Contractural Arachnodactyly
POLG
Balo Concentric Sclerosis
PMM2
Pmm2 Deficiency
OPA3
Costeff Syndrome
NDUFS4
Mitochondrial Complex I Deficiency, Nuclear Type 16
SLC17A5
Salla Disease
ALS2
Infantile-Onset Ascending Hereditary Spastic Paralysis
IL2RG
X-Linked Severe Combined Immunodeficiency
DNAJC19
3-Methylglutaconic Aciduria, Type V
GALE
Galactose Epimerase Deficiency
NDUFS6
Mitochondrial Complex I Deficiency, Nuclear Type 16
NDUFA1
Mitochondrial Complex I Deficiency, Nuclear Type 16
DPM2
Congenital Disorder Of Glycosylation, Type Iu
NDUFV1
Mitochondrial Complex I Deficiency, Nuclear Type 16
TMEM67
Meckel Syndrome, Type 8
NDUFS1
Mitochondrial Complex I Deficiency, Nuclear Type 16
CFH
Membranoproliferative Glomerulonephritis
NUBPL
Mitochondrial Complex I Deficiency, Nuclear Type 16