Infantile Cerebellar-Retinal Degeneration Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. (Human Disease Ontology, DOID_0050883)
External Link https://www.disgenet.org/browser/0/1/0/C3281192
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Genes

2 genes associated with the disease Infantile Cerebellar-Retinal Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACO2 aconitase 2, mitochondrial
POLR3H polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)