cerebellar dysplasia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of developmental dysplasia of the cerebellum. (Human Phenotype Ontology, HP_0007033)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0007033
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Genes

8 genes associated with the cerebellar dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
FKRP fukutin related protein
GPSM2 G-protein signaling modulator 2
LAMA1 laminin, alpha 1
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
TMEM5 transmembrane protein 5