abnormal cerebellum morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000849
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Genes

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

Symbol Name
AARS alanyl-tRNA synthetase
ABCD2 ATP-binding cassette, sub-family D (ALD), member 2
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACP2 acid phosphatase 2, lysosomal
ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif, 4
ADGRG1 adhesion G protein-coupled receptor G1
AFF1 AF4/FMR2 family, member 1
AGA aspartylglucosaminidase
AGTPBP1 ATP/GTP binding protein 1
AHI1 Abelson helper integration site 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AK7 adenylate kinase 7
AKAP12 A kinase (PRKA) anchor protein 12
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ANK1 ankyrin 1, erythrocytic
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
AP4B1 adaptor-related protein complex 4, beta 1 subunit
APC2 adenomatosis polyposis coli 2
ARCN1 archain 1
ARSA arylsulfatase A
ARSG arylsulfatase G
ASS1 argininosuccinate synthase 1
ASTN1 astrotactin 1
ATF2 activating transcription factor 2
ATG4B autophagy related 4B, cysteine peptidase
ATM ATM serine/threonine kinase
ATOH1 atonal homolog 1 (Drosophila)
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATRN attractin
ATXN1 ataxin 1
ATXN2 ataxin 2
ATXN7 ataxin 7
B4GALT2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2
BCL2L2 BCL2-like 2
BDNF brain-derived neurotrophic factor
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CADPS2 Ca++-dependent secretion activator 2
CAMK4 calcium/calmodulin-dependent protein kinase IV
CANX calnexin
CASP3 caspase 3, apoptosis-related cysteine peptidase
CBLN1 cerebellin 1 precursor
CCND2 cyclin D2
CCR10 chemokine (C-C motif) receptor 10
CDK5 cyclin-dependent kinase 5
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35)
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CEND1 cell cycle exit and neuronal differentiation 1
CEP290 centrosomal protein 290kDa
CERS1 ceramide synthase 1
CERS2 ceramide synthase 2
CHP1 calcineurin-like EF-hand protein 1
CIT citron rho-interacting serine/threonine kinase
CLCN2 chloride channel, voltage-sensitive 2
CLCN7 chloride channel, voltage-sensitive 7
CLN3 ceroid-lipofuscinosis, neuronal 3
CNTN1 contactin 1
CNTNAP1 contactin associated protein 1
COMMD3-BMI1 COMMD3-BMI1 readthrough
CP ceruloplasmin (ferroxidase)
CRYBB2 crystallin, beta B2
CSTB cystatin B (stefin B)
CTNNA2 catenin (cadherin-associated protein), alpha 2
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCL12 chemokine (C-X-C motif) ligand 12
CXCR4 chemokine (C-X-C motif) receptor 4
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
DAB2IP DAB2 interacting protein
DISC1 disrupted in schizophrenia 1
DNAH5 dynein, axonemal, heavy chain 5
DNER delta/notch-like EGF repeat containing
DNM1 dynamin 1
DOCK3 dedicator of cytokinesis 3
DPYSL5 dihydropyrimidinase-like 5
DSCAM Down syndrome cell adhesion molecule
EBF2 early B-cell factor 2
EDARADD EDAR-associated death domain
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
EGFR epidermal growth factor receptor
EIF4H eukaryotic translation initiation factor 4H
EN1 engrailed homeobox 1
EN2 engrailed homeobox 2
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
ERBB3 erb-b2 receptor tyrosine kinase 3
FA2H fatty acid 2-hydroxylase
FGF17 fibroblast growth factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FIGN fidgetin
FKBP8 FK506 binding protein 8, 38kDa
FKRP fukutin related protein
FMR1 fragile X mental retardation 1
FOXB1 forkhead box B1
FOXC1 forkhead box C1
FOXI1 forkhead box I1
FOXP2 forkhead box P2
FRS2 fibroblast growth factor receptor substrate 2
FZD4 frizzled class receptor 4
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GAS1 growth arrest-specific 1
GBX2 gastrulation brain homeobox 2
GJC2 gap junction protein, gamma 2, 47kDa
GLB1 galactosidase, beta 1
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GLRB glycine receptor, beta
GM2A GM2 ganglioside activator
GNAS GNAS complex locus
GNPAT glyceronephosphate O-acyltransferase
GPR37L1 G protein-coupled receptor 37 like 1
GRID2 glutamate receptor, ionotropic, delta 2
GRIN2C glutamate receptor, ionotropic, N-methyl D-aspartate 2C
HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
HEXB hexosaminidase B (beta polypeptide)
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
HTT huntingtin
HYDIN HYDIN, axonemal central pair apparatus protein
IDUA iduronidase, alpha-L-
IL17RD interleukin 17 receptor D
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
INPP4A inositol polyphosphate-4-phosphatase, type I, 107kDa
IREB2 iron-responsive element binding protein 2
JAM3 junctional adhesion molecule 3
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
KHDRBS2 KH domain containing, RNA binding, signal transduction associated 2
KIF14 kinesin family member 14
KIF2A kinesin heavy chain member 2A
KL klotho
KLHL1 kelch-like family member 1
KRT1 keratin 1, type II
L1CAM L1 cell adhesion molecule
LGI1 leucine-rich, glioma inactivated 1
LMNB2 lamin B2
LMX1A LIM homeobox transcription factor 1, alpha
LMX1B LIM homeobox transcription factor 1, beta
LRP2 low density lipoprotein receptor-related protein 2
LRP6 low density lipoprotein receptor-related protein 6
LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
LYNX1 Ly6/neurotoxin 1
LYST lysosomal trafficking regulator
MANBA mannosidase, beta A, lysosomal
MAP1B microtubule-associated protein 1B
MAP2 microtubule-associated protein 2
MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2
MECP2 methyl CpG binding protein 2
MET MET proto-oncogene, receptor tyrosine kinase
MID1 midline 1
MKS1 Meckel syndrome, type 1
MSX2 msh homeobox 2
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MYH10 myosin, heavy chain 10, non-muscle
MYO5A myosin VA (heavy chain 12, myoxin)
NAGLU N-acetylglucosaminidase, alpha
NAPA N-ethylmaleimide-sensitive factor attachment protein, alpha
NCAM1 neural cell adhesion molecule 1
NCOA1 nuclear receptor coactivator 1
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NEUROD1 neuronal differentiation 1
NEUROD2 neuronal differentiation 2
NEUROD4 neuronal differentiation 4
NEUROG2 neurogenin 2
NFIA nuclear factor I/A
NFIB nuclear factor I/B
NIPBL Nipped-B homolog (Drosophila)
NPAS3 neuronal PAS domain protein 3
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NR1D1 nuclear receptor subfamily 1, group D, member 1
NRCAM neuronal cell adhesion molecule
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
OCLN occludin
OTX1 orthodenticle homeobox 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAX2 paired box 2
PAX5 paired box 5
PAX6 paired box 6
PDS5A PDS5 cohesin associated factor A
PDYN prodynorphin
PEX11B peroxisomal biogenesis factor 11 beta
PEX2 peroxisomal biogenesis factor 2
PFDN1 prefoldin subunit 1
PFDN5 prefoldin subunit 5
PHGDH phosphoglycerate dehydrogenase
PHYH phytanoyl-CoA 2-hydroxylase
PI4K2A phosphatidylinositol 4-kinase type 2 alpha
PIKFYVE phosphoinositide kinase, FYVE finger containing
PITPNA phosphatidylinositol transfer protein, alpha
PLCB4 phospholipase C, beta 4
PLP1 proteolipid protein 1
PLXNA2 plexin A2
PLXNB2 plexin B2
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMK protein-O-mannose kinase
POU1F1 POU class 1 homeobox 1
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPT1 palmitoyl-protein thioesterase 1
PREX2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRNP prion protein
PSAP prosaposin
PTCH1 patched 1
PTF1A pancreas specific transcription factor, 1a
PURA purine-rich element binding protein A
PVALB parvalbumin
QKI QKI, KH domain containing, RNA binding
RB1 retinoblastoma 1
RELN reelin
RERE arginine-glutamic acid dipeptide (RE) repeats
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila)
RORA RAR-related orphan receptor A
RPGRIP1L RPGRIP1-like
RPL27A ribosomal protein L27a
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCYL1 SCY1-like 1 (S. cerevisiae)
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
SGCE sarcoglycan, epsilon
SHH sonic hedgehog
SIL1 SIL1 nucleotide exchange factor
SKOR2 SKI family transcriptional corepressor 2
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SOD2 superoxide dismutase 2, mitochondrial
SOX11 SRY (sex determining region Y)-box 11
SP8 Sp8 transcription factor
SPARCL1 SPARC-like 1 (hevin)
SPTBN2 spectrin, beta, non-erythrocytic 2
SPTBN4 spectrin, beta, non-erythrocytic 4
SS18L1 synovial sarcoma translocation gene on chromosome 18-like 1
STK38L serine/threonine kinase 38 like
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
SUMF1 sulfatase modifying factor 1
SUZ12 SUZ12 polycomb repressive complex 2 subunit
TBATA thymus, brain and testes associated
TDP1 tyrosyl-DNA phosphodiesterase 1
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TMEM176B transmembrane protein 176B
TMEM67 transmembrane protein 67
TNIK TRAF2 and NCK interacting kinase
TOR1A torsin family 1, member A (torsin A)
TP53 tumor protein p53
TPP1 tripeptidyl peptidase I
TRIM2 tripartite motif containing 2
TRPC3 transient receptor potential cation channel, subfamily C, member 3
TUBB2B tubulin, beta 2B class IIb
UBE3A ubiquitin protein ligase E3A
UBE4B ubiquitination factor E4B
UGT8 UDP glycosyltransferase 8
UNC5C unc-5 homolog C (C. elegans)
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VAC14 Vac14 homolog (S. cerevisiae)
VIM vimentin
VLDLR very low density lipoprotein receptor
WNT1 wingless-type MMTV integration site family, member 1
ZBTB18 zinc finger and BTB domain containing 18
ZDHHC13 zinc finger, DHHC-type containing 13
ZIC1 Zic family member 1
ZIC3 Zic family member 3
ZIC4 Zic family member 4
ZNF423 zinc finger protein 423