abnormality of the cerebellar peduncle Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum. (Human Phenotype Ontology, HP_0011931)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011931
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Genes

7 genes associated with the abnormality of the cerebellar peduncle phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AHI1 Abelson helper integration site 1
CEP290 centrosomal protein 290kDa
CSPP1 centrosome and spindle pole associated protein 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
NPHP1 nephronophthisis 1 (juvenile)
TMEM216 transmembrane protein 216
TMEM67 transmembrane protein 67