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Diseases
Genes (403)
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COMP
Pseudoachondroplasia
SCNN1B
Liddle Syndrome 2
VCP
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
SLC4A1
Southeast Asian Ovalocytosis
RBM8A
Thrombocytopenia-Absent Radius Syndrome
AHDC1
Xia–gibbs Syndrome
SAMD9L
Ataxia-Pancytopenia Syndrome
SAMD9
Tumoral Calcinosis, Normophosphatemic, Familial
CRYBB3
Cataract 22, Multiple Types
KIDINS220
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
SCNN1G
Liddle Syndrome 2
PRNP
Kuru, Susceptibility To
Akinetic Mutism
DHX30
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
SCNN1A
Liddle Syndrome 2
GRIA4
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
CDKL5
Epileptic Encephalopathy, Early Infantile, 15
ARX
Epileptic Encephalopathy, Early Infantile, 15
STXBP1
Epileptic Encephalopathy, Early Infantile, 15
HNRNPA2B1
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
HNRNPA1
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3