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Diseases
Genes (1022)
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ATRX
Alpha-Thalassemia Mental Retardation Syndrome
BMPR1A
Juvenile Polyposis Syndrome
SMAD4
Juvenile Polyposis Syndrome
PYGM
Glycogen Storage Disease Type V
WRN
Werner Syndrome
TTPA
Familial Isolated Vitamin E Deficiency
GLA
Fabry Disease
FMR1
Avoidant Personality Disorder
Fragile X-Associated Tremor/ataxia Syndrome
UMOD
Medullary Cystic Kidney Disease
Fabry Disease
NGLY1
Ngly1 Deficiency
SLC6A4
Avoidant Personality Disorder
Cluster B Personality Disorders
Personality Disorder
Cluster Headache
UBA1
X-Linked Spinal Muscular Atrophy Type 2
MME
Cluster Headache
Schizotypal Personality Disorder
Charcot-Marie-Tooth Disease, Axonal, Type 2t
KRT14
Naegeli-Franceschetti-Jadassohn Syndrome
PCDH19
Epilepsy-Intellectual Disability In Females
MORC2
Charcot-Marie-Tooth Disease, Axonal, Type 2z
BSCL2
Lipodystrophy, Congenital Generalized, Type 2
ISCU
Myopathy With Deficiency Of Iron-Sulfur Cluster Assembly Enzyme
ENG
Juvenile Polyposis Syndrome
MAPT
Tauopathy