agenesis of cerebellar vermis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Congenital absence of the vermis of cerebellum. (Human Phenotype Ontology, HP_0002335)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002335
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Genes

6 genes associated with the agenesis of cerebellar vermis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CEP290 centrosomal protein 290kDa
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
MVK mevalonate kinase
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TMEM216 transmembrane protein 216