abnormal limbic system morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of any of a collection of structures in the brain involved in emotion, motivation and emotional aspects of memory; these structures act together to control the endocrine system and the autonomic nervous system (Mammalian Phenotype Ontology, MP_0004166)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004166
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Genes

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

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABI2 abl-interactor 2
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTPBP1 ATP/GTP binding protein 1
AGTR1 angiotensin II receptor, type 1
AGTR2 angiotensin II receptor, type 2
AK8 adenylate kinase 8
AKT3 v-akt murine thymoma viral oncogene homolog 3
AP3M2 adaptor-related protein complex 3, mu 2 subunit
APAF1 apoptotic peptidase activating factor 1
APC2 adenomatosis polyposis coli 2
APOE apolipoprotein E
ARL4D ADP-ribosylation factor-like 4D
ARL6 ADP-ribosylation factor-like 6
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARPC3 actin related protein 2/3 complex, subunit 3, 21kDa
ARSG arylsulfatase G
ARX aristaless related homeobox
ATAT1 alpha tubulin acetyltransferase 1
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP7A ATPase, Cu++ transporting, alpha polypeptide
AVP arginine vasopressin
BAD BCL2-associated agonist of cell death
BASP1 brain abundant, membrane attached signal protein 1
BBIP1 BBSome interacting protein 1
BBS1 Bardet-Biedl syndrome 1
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BCAN brevican
BCL2L11 BCL2-like 11 (apoptosis facilitator)
BDNF brain-derived neurotrophic factor
BID BH3 interacting domain death agonist
BRD7 bromodomain containing 7
C1QA complement component 1, q subcomponent, A chain
CACNG2 calcium channel, voltage-dependent, gamma subunit 2
CACNG8 calcium channel, voltage-dependent, gamma subunit 8
CADM1 cell adhesion molecule 1
CAV1 caveolin 1, caveolae protein, 22kDa
CD81 CD81 molecule
CDK5 cyclin-dependent kinase 5
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35)
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CENPJ centromere protein J
CERS2 ceramide synthase 2
CERS6 ceramide synthase 6
CHD7 chromodomain helicase DNA binding protein 7
CHL1 cell adhesion molecule L1-like
CHN2 chimerin 2
CIT citron rho-interacting serine/threonine kinase
CKB creatine kinase, brain
CLCN3 chloride channel, voltage-sensitive 3
CLCN7 chloride channel, voltage-sensitive 7
CLN3 ceroid-lipofuscinosis, neuronal 3
CLOCK clock circadian regulator
CLSTN3 calsyntenin 3
COL4A1 collagen, type IV, alpha 1
COMMD3-BMI1 COMMD3-BMI1 readthrough
CPEB3 cytoplasmic polyadenylation element binding protein 3
CPLX2 complexin 2
CR1L complement component (3b/4b) receptor 1-like
CRMP1 collapsin response mediator protein 1
CSF1 colony stimulating factor 1 (macrophage)
CSPG4 chondroitin sulfate proteoglycan 4
CST3 cystatin C
CTNNA2 catenin (cadherin-associated protein), alpha 2
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNND1 catenin (cadherin-associated protein), delta 1
CXCR4 chemokine (C-X-C motif) receptor 4
CYCS cytochrome c, somatic
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
DCX doublecortin
DFFA DNA fragmentation factor, 45kDa, alpha polypeptide
DGCR8 DGCR8 microprocessor complex subunit
DGKB diacylglycerol kinase, beta 90kDa
DISC1 disrupted in schizophrenia 1
DLG4 discs, large homolog 4 (Drosophila)
DMRTA2 DMRT-like family A2
DPYSL4 dihydropyrimidinase-like 4
DUSP3 dual specificity phosphatase 3
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EBF2 early B-cell factor 2
EFHC1 EF-hand domain (C-terminal) containing 1
EFNA3 ephrin-A3
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EIF4EBP2 eukaryotic translation initiation factor 4E binding protein 2
EMX2 empty spiracles homeobox 2
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
ESR1 estrogen receptor 1
FABP7 fatty acid binding protein 7, brain
FGF8 fibroblast growth factor 8 (androgen-induced)
FKRP fukutin related protein
FMR1 fragile X mental retardation 1
FOXB1 forkhead box B1
FOXC1 forkhead box C1
FOXG1 forkhead box G1
FSHR follicle stimulating hormone receptor
FUS FUS RNA binding protein
FYN FYN proto-oncogene, Src family tyrosine kinase
FZD9 frizzled class receptor 9
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5
GAL galanin/GMAP prepropeptide
GCLM glutamate-cysteine ligase, modifier subunit
GDI1 GDP dissociation inhibitor 1
GIT2 G protein-coupled receptor kinase interacting ArfGAP 2
GLI3 GLI family zinc finger 3
GM2A GM2 ganglioside activator
GRIA2 glutamate receptor, ionotropic, AMPA 2
HAP1 huntingtin-associated protein 1
HDAC2 histone deacetylase 2
HESX1 HESX homeobox 1
HPCA hippocalcin
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HSF2 heat shock transcription factor 2
HTT huntingtin
ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein
INPP4A inositol polyphosphate-4-phosphatase, type I, 107kDa
ISLR2 immunoglobulin superfamily containing leucine-rich repeat 2
ITSN1 intersectin 1 (SH3 domain protein)
JAM3 junctional adhesion molecule 3
KALRN kalirin, RhoGEF kinase
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KIF14 kinesin family member 14
KIF1B kinesin family member 1B
KIF2A kinesin heavy chain member 2A
KISS1R KISS1 receptor
KLF7 Kruppel-like factor 7 (ubiquitous)
KLK8 kallikrein-related peptidase 8
L1CAM L1 cell adhesion molecule
LDLR low density lipoprotein receptor
LEF1 lymphoid enhancer-binding factor 1
LGI1 leucine-rich, glioma inactivated 1
LHX2 LIM homeobox 2
LHX5 LIM homeobox 5
LHX6 LIM homeobox 6
LIMK1 LIM domain kinase 1
LMNB2 lamin B2
LMX1A LIM homeobox transcription factor 1, alpha
LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
LRRK2 leucine-rich repeat kinase 2
LRRTM1 leucine rich repeat transmembrane neuronal 1
LRRTM4 leucine rich repeat transmembrane neuronal 4
LYST lysosomal trafficking regulator
MAN2B1 mannosidase, alpha, class 2B, member 1
MAN2C1 mannosidase, alpha, class 2C, member 1
MANBA mannosidase, beta A, lysosomal
MAP1B microtubule-associated protein 1B
MAP2 microtubule-associated protein 2
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MAPT microtubule-associated protein tau
MBD1 methyl-CpG binding domain protein 1
MBOAT7 membrane bound O-acyltransferase domain containing 7
MDK midkine (neurite growth-promoting factor 2)
MECP2 methyl CpG binding protein 2
MKKS McKusick-Kaufman syndrome
MT3 metallothionein 3
MYCBP2 MYC binding protein 2, E3 ubiquitin protein ligase
NAGLU N-acetylglucosaminidase, alpha
NCAM1 neural cell adhesion molecule 1
NCOA6 nuclear receptor coactivator 6
NDEL1 nudE neurodevelopment protein 1-like 1
NDN necdin, melanoma antigen (MAGE) family member
NEUROD1 neuronal differentiation 1
NEUROG2 neurogenin 2
NFIA nuclear factor I/A
NFIB nuclear factor I/B
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NKX2-1 NK2 homeobox 1
NOS3 nitric oxide synthase 3 (endothelial cell)
NPAS3 neuronal PAS domain protein 3
NPC1 Niemann-Pick disease, type C1
NR2E1 nuclear receptor subfamily 2, group E, member 1
NR2F1 nuclear receptor subfamily 2, group F, member 1
NR4A3 nuclear receptor subfamily 4, group A, member 3
NR5A1 nuclear receptor subfamily 5, group A, member 1
NRP1 neuropilin 1
NRP2 neuropilin 2
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
OLIG3 oligodendrocyte transcription factor 3
OPN4 opsin 4
OTP orthopedia homeobox
OTX1 orthodenticle homeobox 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PARK2 parkin RBR E3 ubiquitin protein ligase
PEG3 paternally expressed 3
PEX7 peroxisomal biogenesis factor 7
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PLXNA2 plexin A2
PLXNA3 plexin A3
PLXNA4 plexin A4
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMK protein-O-mannose kinase
POU1F1 POU class 1 homeobox 1
POU3F2 POU class 3 homeobox 2
POU3F3 POU class 3 homeobox 3
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPP1R9B protein phosphatase 1, regulatory subunit 9B
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PPT1 palmitoyl-protein thioesterase 1
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRNP prion protein
PSAP prosaposin
PSEN1 presenilin 1
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PURA purine-rich element binding protein A
RAX retina and anterior neural fold homeobox
RELN reelin
RERE arginine-glutamic acid dipeptide (RE) repeats
RGS2 regulator of G-protein signaling 2
RPS7 ribosomal protein S7
SEMA3F sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F
SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A
SEMA6B sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B
SH2D3C SH2 domain containing 3C
SHANK1 SH3 and multiple ankyrin repeat domains 1
SHISA2 shisa family member 2
SIM1 single-minded family bHLH transcription factor 1
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC2A8 solute carrier family 2 (facilitated glucose transporter), member 8
SLC30A3 solute carrier family 30 (zinc transporter), member 3
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SNAP25 synaptosomal-associated protein, 25kDa
SOCS7 suppressor of cytokine signaling 7
SOD2 superoxide dismutase 2, mitochondrial
SOX1 SRY (sex determining region Y)-box 1
SOX11 SRY (sex determining region Y)-box 11
SOX3 SRY (sex determining region Y)-box 3
SP4 Sp4 transcription factor
SS18L1 synovial sarcoma translocation gene on chromosome 18-like 1
ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2
STAM signal transducing adaptor molecule (SH3 domain and ITAM motif) 1
STAMBP STAM binding protein
STON2 stonin 2
SUZ12 SUZ12 polycomb repressive complex 2 subunit
SYN1 synapsin I
SYNGAP1 synaptic Ras GTPase activating protein 1
THRA thyroid hormone receptor, alpha
TLR3 toll-like receptor 3
TMEM67 transmembrane protein 67
TNR tenascin R
TP73 tumor protein p73
TPH2 tryptophan hydroxylase 2
TRIB2 tribbles pseudokinase 2
TRIO trio Rho guanine nucleotide exchange factor
TUB tubby bipartite transcription factor
TUBA1A tubulin, alpha 1a
UBB ubiquitin B
UBE3B ubiquitin protein ligase E3B
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VAC14 Vac14 homolog (S. cerevisiae)
VANGL2 VANGL planar cell polarity protein 2
VAX1 ventral anterior homeobox 1
WASF1 WAS protein family, member 1
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZBTB18 zinc finger and BTB domain containing 18
ZBTB20 zinc finger and BTB domain containing 20
ZDHHC17 zinc finger, DHHC-type containing 17
ZIC2 Zic family member 2
ZIC3 Zic family member 3
ZIC5 Zic family member 5
ZNF423 zinc finger protein 423