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Diseases
Genes (1296)
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ATRX
Alpha-Thalassemia Mental Retardation Syndrome
PYGM
Glycogen Storage Disease Type V
WRN
Werner Syndrome
TTPA
Familial Isolated Vitamin E Deficiency
FBN2
Contractural Arachnodactyly, Congenital
FMR1
Avoidant Personality Disorder
Fragile X-Associated Tremor/ataxia Syndrome
ATXN3
Autosomal Dominant Cerebellar Ataxia
Machado–joseph Disease
UMOD
Medullary Cystic Kidney Disease
NGLY1
Ngly1 Deficiency
UBA1
X-Linked Spinal Muscular Atrophy Type 2
KRT14
Naegeli-Franceschetti-Jadassohn Syndrome
MME
Cluster Headache
Charcot-Marie-Tooth Disease, Axonal, Type 2t
PCDH19
Epilepsy-Intellectual Disability In Females
MORC2
Charcot-Marie-Tooth Disease, Axonal, Type 2z
Contractural Arachnodactyly, Congenital
BSCL2
Lipodystrophy, Congenital Generalized, Type 2
SLC6A4
Avoidant Personality Disorder
Cluster Headache
Personality Disorder
MYCN
Pinealoblastoma
Feingold Syndrome
ISCU
Myopathy With Deficiency Of Iron-Sulfur Cluster Assembly Enzyme
MAPT
Tauopathy
ASS1
Citrullinemia Type I
Contractural Arachnodactyly, Congenital