abnormal cerebellum external granule cell layer morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the transient layer of the cerebellar cortex present during development which is composed of the dividing and migrating granule cells (Mammalian Phenotype Ontology, MP_0000872)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000872
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44 gene mutations causing the abnormal cerebellum external granule cell layer morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACP2 acid phosphatase 2, lysosomal
ASS1 argininosuccinate synthase 1
ASTN1 astrotactin 1
ATOH1 atonal homolog 1 (Drosophila)
BDNF brain-derived neurotrophic factor
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CADPS2 Ca++-dependent secretion activator 2
CASP3 caspase 3, apoptosis-related cysteine peptidase
CCND2 cyclin D2
CEND1 cell cycle exit and neuronal differentiation 1
CXCL12 chemokine (C-X-C motif) ligand 12
CXCR4 chemokine (C-X-C motif) receptor 4
DNER delta/notch-like EGF repeat containing
EGFR epidermal growth factor receptor
EN2 engrailed homeobox 2
FOXP2 forkhead box P2
GAS1 growth arrest-specific 1
GLI2 GLI family zinc finger 2
GPR37L1 G protein-coupled receptor 37 like 1
GRID2 glutamate receptor, ionotropic, delta 2
INPP4A inositol polyphosphate-4-phosphatase, type I, 107kDa
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
LGI1 leucine-rich, glioma inactivated 1
LMNB2 lamin B2
MID1 midline 1
MYH10 myosin, heavy chain 10, non-muscle
NEUROD4 neuronal differentiation 4
NEUROG2 neurogenin 2
NR1D1 nuclear receptor subfamily 1, group D, member 1
PAX6 paired box 6
PEX2 peroxisomal biogenesis factor 2
PLCB4 phospholipase C, beta 4
PLXNB2 plexin B2
PURA purine-rich element binding protein A
RELN reelin
RORA RAR-related orphan receptor A
RPL27A ribosomal protein L27a
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2
SHH sonic hedgehog
TBATA thymus, brain and testes associated
THRA thyroid hormone receptor, alpha
TMEM176B transmembrane protein 176B
UNC5C unc-5 homolog C (C. elegans)