abnormal cerebellum deep nucleus morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the gray matter nuclei located in the center of the cerebellum, embedded in the white matter, which receive inhibitory (GABAergic) inputs from Purkinje cells in the cerebellar cortex and excitatory (glutamatergic) inputs from mossy fiber pathways; all output fibers of the cerebellum originate from the these nuclei (Mammalian Phenotype Ontology, MP_0009979)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009979
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Genes

8 gene mutations causing the abnormal cerebellum deep nucleus morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ATG4B autophagy related 4B, cysteine peptidase
MANBA mannosidase, beta A, lysosomal
NAGLU N-acetylglucosaminidase, alpha
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
PIKFYVE phosphoinositide kinase, FYVE finger containing
RORA RAR-related orphan receptor A
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
TRIM2 tripartite motif containing 2