abnormal brainstem 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:0005277
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Genes

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

Symbol Name
ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide
AGTPBP1 ATP/GTP binding protein 1
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APAF1 apoptotic peptidase activating factor 1
APC adenomatous polyposis coli
ASCL1 achaete-scute family bHLH transcription factor 1
ASIC2 acid sensing (proton gated) ion channel 2
ASIC3 acid sensing (proton gated) ion channel 3
ASPA aspartoacylase
ATOH1 atonal homolog 1 (Drosophila)
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATRN attractin
BAG6 BCL2-associated athanogene 6
BAX BCL2-associated X protein
BCL2 B-cell CLL/lymphoma 2
BDNF brain-derived neurotrophic factor
BHLHE22 basic helix-loop-helix family, member e22
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CASP2 caspase 2, apoptosis-related cysteine peptidase
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP9 caspase 9, apoptosis-related cysteine peptidase
CCNF cyclin F
CD247 CD247 molecule
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)
CIT citron rho-interacting serine/threonine kinase
CLCF1 cardiotrophin-like cytokine factor 1
CLCN2 chloride channel, voltage-sensitive 2
CLN3 ceroid-lipofuscinosis, neuronal 3
CNTFR ciliary neurotrophic factor receptor
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CYCS cytochrome c, somatic
DBX1 developing brain homeobox 1
DCC DCC netrin 1 receptor
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLG5 discs, large homolog 5 (Drosophila)
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EIF4H eukaryotic translation initiation factor 4H
EN1 engrailed homeobox 1
EN2 engrailed homeobox 2
ERBB3 erb-b2 receptor tyrosine kinase 3
ERF Ets2 repressor factor
ESR2 estrogen receptor 2 (ER beta)
FGF17 fibroblast growth factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FKRP fukutin related protein
FOXB1 forkhead box B1
FOXC1 forkhead box C1
FUZ fuzzy planar cell polarity protein
GALC galactosylceramidase
GBX2 gastrulation brain homeobox 2
GLB1 galactosidase, beta 1
GLI3 GLI family zinc finger 3
GPR37 G protein-coupled receptor 37 (endothelin receptor type B-like)
GRID2 glutamate receptor, ionotropic, delta 2
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
HHAT hedgehog acyltransferase
HIPK2 homeodomain interacting protein kinase 2
HOXA1 homeobox A1
HOXA2 homeobox A2
HOXB1 homeobox B1
HOXB2 homeobox B2
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7
HTT huntingtin
HYDIN HYDIN, axonemal central pair apparatus protein
HYOU1 hypoxia up-regulated 1
IFT88 intraflagellar transport 88
IGF1R insulin-like growth factor 1 receptor
IL17RD interleukin 17 receptor D
IL6 interleukin 6
IREB2 iron-responsive element binding protein 2
KAT2A K(lysine) acetyltransferase 2A
KAT6B K(lysine) acetyltransferase 6B
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KDM2B lysine (K)-specific demethylase 2B
KDM6B lysine (K)-specific demethylase 6B
KIF1B kinesin family member 1B
KIF2A kinesin heavy chain member 2A
KIFAP3 kinesin-associated protein 3
L1CAM L1 cell adhesion molecule
LEF1 lymphoid enhancer-binding factor 1
LHX1 LIM homeobox 1
LIG4 ligase IV, DNA, ATP-dependent
LMNB1 lamin B1
LMX1B LIM homeobox transcription factor 1, beta
LRP6 low density lipoprotein receptor-related protein 6
LUZP1 leucine zipper protein 1
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAN2B1 mannosidase, alpha, class 2B, member 1
MID1 midline 1
MKS1 Meckel syndrome, type 1
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYCBP2 MYC binding protein 2, E3 ubiquitin protein ligase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH10 myosin, heavy chain 10, non-muscle
NAGLU N-acetylglucosaminidase, alpha
NAPA N-ethylmaleimide-sensitive factor attachment protein, alpha
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NEK1 NIMA-related kinase 1
NFIB nuclear factor I/B
NGFR nerve growth factor receptor
NMNAT2 nicotinamide nucleotide adenylyltransferase 2
NODAL nodal growth differentiation factor
NPAS3 neuronal PAS domain protein 3
NPC1 Niemann-Pick disease, type C1
NR4A2 nuclear receptor subfamily 4, group A, member 2
NRP1 neuropilin 1
NTF3 neurotrophin 3
NTN1 netrin 1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
OLIG3 oligodendrocyte transcription factor 3
OTX1 orthodenticle homeobox 1
OTX2 orthodenticle homeobox 2
PAK1IP1 PAK1 interacting protein 1
PARK2 parkin RBR E3 ubiquitin protein ligase
PAX2 paired box 2
PAX5 paired box 5
PAX6 paired box 6
PHOX2A paired-like homeobox 2a
PHOX2B paired-like homeobox 2b
PIKFYVE phosphoinositide kinase, FYVE finger containing
PITPNA phosphatidylinositol transfer protein, alpha
PITX3 paired-like homeodomain 3
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
POU4F1 POU class 4 homeobox 1
POU4F2 POU class 4 homeobox 2
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PSAP prosaposin
RAX retina and anterior neural fold homeobox
RFX4 regulatory factor X, 4 (influences HLA class II expression)
RND3 Rho family GTPase 3
RORA RAR-related orphan receptor A
SCN2A sodium channel, voltage gated, type II alpha subunit
SCUBE1 signal peptide, CUB domain, EGF-like 1
SHH sonic hedgehog
SIX3 SIX homeobox 3
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SMAD1 SMAD family member 1
SMAD9 SMAD family member 9
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SOD2 superoxide dismutase 2, mitochondrial
SOS1 son of sevenless homolog 1 (Drosophila)
SPP1 secreted phosphoprotein 1
SPTAN1 spectrin, alpha, non-erythrocytic 1
SSBP3 single stranded DNA binding protein 3
STRBP spermatid perinuclear RNA binding protein
SUZ12 SUZ12 polycomb repressive complex 2 subunit
TAL2 T-cell acute lymphocytic leukemia 2
TDGF1 teratocarcinoma-derived growth factor 1
TENM2 teneurin transmembrane protein 2
TFAP2D transcription factor AP-2 delta (activating enhancer binding protein 2 delta)
TMEM67 transmembrane protein 67
TOR1A torsin family 1, member A (torsin A)
TUBB2B tubulin, beta 2B class IIb
TULP3 tubby like protein 3
UBE4B ubiquitination factor E4B
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UCHL5 ubiquitin carboxyl-terminal hydrolase L5
UNC5C unc-5 homolog C (C. elegans)
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VAC14 Vac14 homolog (S. cerevisiae)
VANGL2 VANGL planar cell polarity protein 2
VEGFA vascular endothelial growth factor A
WNT1 wingless-type MMTV integration site family, member 1
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6
ZIC3 Zic family member 3
ZNF423 zinc finger protein 423