abnormal telencephalon development Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the progression of the enlarged anteriolateral part of the brain; consists of the paired cerebral hemispheres and olfactory bulbs, the basal ganglia and the connecting structures, and is considered to be the seat of conscious mental processes; it develops from the anterior-most embryological division of the brain that develops from the prosencephalon (Mammalian Phenotype Ontology, MP_0000934)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000934
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Genes

93 gene mutations causing the abnormal telencephalon development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADGRA2 adhesion G protein-coupled receptor A2
ADGRG1 adhesion G protein-coupled receptor G1
AMBRA1 autophagy/beclin-1 regulator 1
APAF1 apoptotic peptidase activating factor 1
APH1A APH1A gamma secretase subunit
ARX aristaless related homeobox
ASCL1 achaete-scute family bHLH transcription factor 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
CASP9 caspase 9, apoptosis-related cysteine peptidase
CDK5 cyclin-dependent kinase 5
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35)
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3
CHD7 chromodomain helicase DNA binding protein 7
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CTNNBIP1 catenin, beta interacting protein 1
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
EMX2 empty spiracles homeobox 2
FBXO45 F-box protein 45
FEZF2 FEZ family zinc finger 2
FGF8 fibroblast growth factor 8 (androgen-induced)
FOXC1 forkhead box C1
FOXG1 forkhead box G1
GLI3 GLI family zinc finger 3
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1
GSX2 GS homeobox 2
HAND1 heart and neural crest derivatives expressed 1
HESX1 HESX homeobox 1
HHAT hedgehog acyltransferase
HHEX hematopoietically expressed homeobox
HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IL6ST interleukin 6 signal transducer
ITGA6 integrin, alpha 6
KAT2A K(lysine) acetyltransferase 2A
KAT6B K(lysine) acetyltransferase 6B
KIF20B kinesin family member 20B
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LAMC1 laminin, gamma 1 (formerly LAMB2)
LEP leptin
LHX2 LIM homeobox 2
LHX8 LIM homeobox 8
LMNB2 lamin B2
LRP2 low density lipoprotein receptor-related protein 2
MAP1B microtubule-associated protein 1B
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MARCKS myristoylated alanine-rich protein kinase C substrate
MCPH1 microcephalin 1
MECOM MDS1 and EVI1 complex locus
MED1 mediator complex subunit 1
MLST8 MTOR associated protein, LST8 homolog (S. cerevisiae)
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NAPA N-ethylmaleimide-sensitive factor attachment protein, alpha
NDEL1 nudE neurodevelopment protein 1-like 1
NEUROG2 neurogenin 2
NR2E1 nuclear receptor subfamily 2, group E, member 1
NUMB numb homolog (Drosophila)
OTX1 orthodenticle homeobox 1
OTX2 orthodenticle homeobox 2
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PARD3 par-3 family cell polarity regulator
PAX3 paired box 3
PAX6 paired box 6
PCSK6 proprotein convertase subtilisin/kexin type 6
PGAP1 post-GPI attachment to proteins 1
PRX periaxin
PSEN1 presenilin 1
PTBP2 polypyrimidine tract binding protein 2
PTCH1 patched 1
PTPN6 protein tyrosine phosphatase, non-receptor type 6
RELN reelin
RERE arginine-glutamic acid dipeptide (RE) repeats
REST RE1-silencing transcription factor
ROBO4 roundabout, axon guidance receptor, homolog 4 (Drosophila)
SIX3 SIX homeobox 3
SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
SOX11 SRY (sex determining region Y)-box 11
SPTAN1 spectrin, alpha, non-erythrocytic 1
SSBP3 single stranded DNA binding protein 3
SYNPO synaptopodin
TCTN1 tectonic family member 1
TDG thymine-DNA glycosylase
TGIF1 TGFB-induced factor homeobox 1
TOP2B topoisomerase (DNA) II beta 180kDa
TP53BP2 tumor protein p53 binding protein 2
TP73 tumor protein p73
TTL tubulin tyrosine ligase
TUBB2B tubulin, beta 2B class IIb
VAX1 ventral anterior homeobox 1
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
ZBTB18 zinc finger and BTB domain containing 18
ZIC2 Zic family member 2
ZIC5 Zic family member 5