abnormal basal ganglion morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of any of a group of nuclei associated with the ability to carry out willed movements, including the caudate, putamen, nucleus accumbens, globus pallidus, substantia nigra, and subthalamic nucleus (Mammalian Phenotype Ontology, MP_0006007)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006007
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Genes

69 gene mutations causing the abnormal basal ganglion morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide
ARL6 ADP-ribosylation factor-like 6
ARX aristaless related homeobox
BBS1 Bardet-Biedl syndrome 1
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BDNF brain-derived neurotrophic factor
CASP6 caspase 6, apoptosis-related cysteine peptidase
CD81 CD81 molecule
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35)
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3
CLN3 ceroid-lipofuscinosis, neuronal 3
CLOCK clock circadian regulator
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DLG4 discs, large homolog 4 (Drosophila)
DLGAP3 discs, large (Drosophila) homolog-associated protein 3
DRD1 dopamine receptor D1
EBF1 early B-cell factor 1
ESR2 estrogen receptor 2 (ER beta)
FOXC1 forkhead box C1
FOXG1 forkhead box G1
FUZ fuzzy planar cell polarity protein
FZD3 frizzled class receptor 3
GBA glucosidase, beta, acid
GPR37 G protein-coupled receptor 37 (endothelin receptor type B-like)
GPR6 G protein-coupled receptor 6
GSX2 GS homeobox 2
HIPK2 homeodomain interacting protein kinase 2
HSF1 heat shock transcription factor 1
HTRA2 HtrA serine peptidase 2
HTT huntingtin
HYOU1 hypoxia up-regulated 1
ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein
IL6 interleukin 6
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
LHX2 LIM homeobox 2
LHX8 LIM homeobox 8
LIG4 ligase IV, DNA, ATP-dependent
LLGL1 lethal giant larvae homolog 1 (Drosophila)
LYNX1 Ly6/neurotoxin 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MANBA mannosidase, beta A, lysosomal
MKKS McKusick-Kaufman syndrome
NR4A2 nuclear receptor subfamily 4, group A, member 2
OCLN occludin
PARK2 parkin RBR E3 ubiquitin protein ligase
PFN2 profilin 2
PITX3 paired-like homeodomain 3
PLXNB2 plexin B2
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
QKI QKI, KH domain containing, RNA binding
RFX4 regulatory factor X, 4 (influences HLA class II expression)
RXRG retinoid X receptor, gamma
SHANK3 SH3 and multiple ankyrin repeat domains 3
SLITRK5 SLIT and NTRK-like family, member 5
SOX1 SRY (sex determining region Y)-box 1
SPP1 secreted phosphoprotein 1
TMEM67 transmembrane protein 67
TOR1A torsin family 1, member A (torsin A)
TUBB2B tubulin, beta 2B class IIb
TUBB3 tubulin, beta 3 class III
VANGL2 VANGL planar cell polarity protein 2
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
WASF1 WAS protein family, member 1
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6
ZDHHC13 zinc finger, DHHC-type containing 13
ZDHHC17 zinc finger, DHHC-type containing 17
ZIC3 Zic family member 3
ZIC5 Zic family member 5