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Diseases
Genes (1931)
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GALT
Müllerian Agenesis
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
GALE
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
CYP4V2
Bietti's Crystalline Dystrophy
FERMT1
Kindler Syndrome
TTPA
Neurodegeneration
Familial Isolated Vitamin E Deficiency
SIX1
Branchiootorenal Syndrome 2
HARS1
Charcot-Marie-Tooth Disease, Axonal, Type 2w
Perrault Syndrome 2
Long Qt Syndrome 2
MCOLN1
Mucolipidosis Iv
Neurodegeneration
EYA1
Branchiootorenal Syndrome 2
CAPN1
Spastic Paraplegia 76, Autosomal Recessive
LZTFL1
Unc119 Lipid-Binding Chaperone
Bardet–biedl Syndrome
MKS1
Bardet–biedl Syndrome
LARS2
Perrault Syndrome 2
SLC2A10
Arterial Tortuosity Syndrome
CLPP
Perrault Syndrome 2
CDC42
Takenouchi-Kosaki Syndrome
Neurodegeneration
GNB5
Language Delay And Attention Deficit-Hyperactivity Disorder/cognitive Impairment With Or Without Cardiac Arrhythmia
BBS10
Bardet–biedl Syndrome
UBA5
Epileptic Encephalopathy, Early Infantile, 44
ASPM
Microcephaly 14, Primary, Autosomal Recessive