abnormal forebrain development Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the formation or patterning of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions) (Mammalian Phenotype Ontology, MP_0003232)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003232
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Genes

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

Symbol Name
ADAM10 ADAM metallopeptidase domain 10
ADGRA2 adhesion G protein-coupled receptor A2
ADGRG1 adhesion G protein-coupled receptor G1
AGO2 argonaute RISC catalytic component 2
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
BCOR BCL6 corepressor
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)
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3
CHD7 chromodomain helicase DNA binding protein 7
CHN2 chimerin 2
COL2A1 collagen, type II, alpha 1
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CTBP2 C-terminal binding protein 2
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNNBIP1 catenin, beta interacting protein 1
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
DLC1 DLC1 Rho GTPase activating protein
DLG3 discs, large homolog 3 (Drosophila)
EMX2 empty spiracles homeobox 2
ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2
F3 coagulation factor III (thromboplastin, tissue factor)
FBXO45 F-box protein 45
FEZF2 FEZ family zinc finger 2
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFRL1 fibroblast growth factor receptor-like 1
FOXC1 forkhead box C1
FOXG1 forkhead box G1
FZD9 frizzled class receptor 9
GBX2 gastrulation brain homeobox 2
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)
ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein
IFT88 intraflagellar transport 88
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
KDM6A lysine (K)-specific demethylase 6A
KIF20B kinesin family member 20B
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LAMC1 laminin, gamma 1 (formerly LAMB2)
LEF1 lymphoid enhancer-binding factor 1
LEP leptin
LHX2 LIM homeobox 2
LHX5 LIM homeobox 5
LHX8 LIM homeobox 8
LMNB2 lamin B2
LMX1A LIM homeobox transcription factor 1, alpha
LRP2 low density lipoprotein receptor-related protein 2
LRP6 low density lipoprotein receptor-related protein 6
MAP1B microtubule-associated protein 1B
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MARCKS myristoylated alanine-rich protein kinase C substrate
MBD1 methyl-CpG binding domain protein 1
MCPH1 microcephalin 1
MDK midkine (neurite growth-promoting factor 2)
MECOM MDS1 and EVI1 complex locus
MED1 mediator complex subunit 1
MKS1 Meckel syndrome, type 1
MLST8 MTOR associated protein, LST8 homolog (S. cerevisiae)
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NAPA N-ethylmaleimide-sensitive factor attachment protein, alpha
NDEL1 nudE neurodevelopment protein 1-like 1
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NEUROD1 neuronal differentiation 1
NEUROG2 neurogenin 2
NFIB nuclear factor I/B
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NR2E1 nuclear receptor subfamily 2, group E, member 1
NR4A3 nuclear receptor subfamily 4, group A, member 3
NUMB numb homolog (Drosophila)
OPA1 optic atrophy 1 (autosomal dominant)
OTX1 orthodenticle homeobox 1
OTX2 orthodenticle homeobox 2
OVOL2 ovo-like zinc finger 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
RAD9B RAD9 homolog B (S. pombe)
RELN reelin
RERE arginine-glutamic acid dipeptide (RE) repeats
REST RE1-silencing transcription factor
ROBO4 roundabout, axon guidance receptor, homolog 4 (Drosophila)
RYBP RING1 and YY1 binding protein
SCRIB scribbled planar cell polarity protein
SEMA3F sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F
SIX3 SIX homeobox 3
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SMAD2 SMAD family member 2
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
SUFU suppressor of fused homolog (Drosophila)
SYNPO synaptopodin
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN1 tectonic family member 1
TDG thymine-DNA glycosylase
TGIF1 TGFB-induced factor homeobox 1
TLR3 toll-like receptor 3
TMEM67 transmembrane protein 67
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
VANGL2 VANGL planar cell polarity protein 2
VAX1 ventral anterior homeobox 1
VEGFA vascular endothelial growth factor A
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
ZBTB18 zinc finger and BTB domain containing 18
ZBTB20 zinc finger and BTB domain containing 20
ZIC2 Zic family member 2
ZIC5 Zic family member 5