Pontocerebellar Hypoplasia Type 1 Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death. (Orphanet Rare Disease Ontology, Orphanet_2254)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C548069
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2 genes/proteins associated with the disease Pontocerebellar Hypoplasia Type 1 from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
EXOSC3 exosome component 3 2.88009
VRK1 vaccinia related kinase 1 2.88009