abnormal cerebellar granule layer morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the innermost cortical layer of the cerebellum; contains densely packed small neurons, mostly granule cells with some Golgi cells are found at the outer border (Mammalian Phenotype Ontology, MP_0000886)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000886
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65 gene mutations causing the abnormal cerebellar granule layer morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACP2 acid phosphatase 2, lysosomal
AGTPBP1 ATP/GTP binding protein 1
AHI1 Abelson helper integration site 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AKT3 v-akt murine thymoma viral oncogene homolog 3
APC2 adenomatosis polyposis coli 2
ASS1 argininosuccinate synthase 1
ASTN1 astrotactin 1
ATM ATM serine/threonine kinase
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
CASP3 caspase 3, apoptosis-related cysteine peptidase
CBLN1 cerebellin 1 precursor
CCND2 cyclin D2
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35)
CERS2 ceramide synthase 2
CIT citron rho-interacting serine/threonine kinase
CNTN1 contactin 1
CP ceruloplasmin (ferroxidase)
CSTB cystatin B (stefin B)
CTNNA2 catenin (cadherin-associated protein), alpha 2
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
EN2 engrailed homeobox 2
FZD4 frizzled class receptor 4
GAS1 growth arrest-specific 1
GM2A GM2 ganglioside activator
GRID2 glutamate receptor, ionotropic, delta 2
GRIN2C glutamate receptor, ionotropic, N-methyl D-aspartate 2C
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KRT1 keratin 1, type II
LGI1 leucine-rich, glioma inactivated 1
LYST lysosomal trafficking regulator
MECP2 methyl CpG binding protein 2
MSX2 msh homeobox 2
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MYH10 myosin, heavy chain 10, non-muscle
NEUROD4 neuronal differentiation 4
NFIA nuclear factor I/A
NFIB nuclear factor I/B
NR1D1 nuclear receptor subfamily 1, group D, member 1
PAX6 paired box 6
PDYN prodynorphin
PEX2 peroxisomal biogenesis factor 2
PLP1 proteolipid protein 1
PLXNA2 plexin A2
PLXNB2 plexin B2
POMK protein-O-mannose kinase
POU1F1 POU class 1 homeobox 1
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PTF1A pancreas specific transcription factor, 1a
PURA purine-rich element binding protein A
RB1 retinoblastoma 1
RELN reelin
RORA RAR-related orphan receptor A
RPL27A ribosomal protein L27a
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SEMA4C sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2
TMEM176B transmembrane protein 176B
TNIK TRAF2 and NCK interacting kinase
TP53 tumor protein p53
UNC5C unc-5 homolog C (C. elegans)
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)