abnormal cranial nerve morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of any of the twelve nerves that emerge from the cranium as opposed to the spinal nerves (Mammalian Phenotype Ontology, MP_0001056)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001056
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Genes

169 gene mutations causing the abnormal cranial nerve morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADGRG6 adhesion G protein-coupled receptor G6
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ANK2 ankyrin 2, neuronal
ARHGAP35 Rho GTPase activating protein 35
ATOH7 atonal homolog 7 (Drosophila)
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
BARHL2 BarH-like homeobox 2
BBS4 Bardet-Biedl syndrome 4
BCL2 B-cell CLL/lymphoma 2
BDNF brain-derived neurotrophic factor
BMP4 bone morphogenetic protein 4
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CDK5 cyclin-dependent kinase 5
CERS2 ceramide synthase 2
CHD7 chromodomain helicase DNA binding protein 7
CISD2 CDGSH iron sulfur domain 2
CLCN7 chloride channel, voltage-sensitive 7
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CNGA2 cyclic nucleotide gated channel alpha 2
CNTN4 contactin 4
COL4A1 collagen, type IV, alpha 1
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1
DCC DCC netrin 1 receptor
DLX1 distal-less homeobox 1
DLX2 distal-less homeobox 2
DLX5 distal-less homeobox 5
DNASE1L2 deoxyribonuclease I-like 2
DST dystonin
EBF2 early B-cell factor 2
EDNRA endothelin receptor type A
EFNB1 ephrin-B1
EGR2 early growth response 2
EN1 engrailed homeobox 1
EPHB1 EPH receptor B1
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB3 erb-b2 receptor tyrosine kinase 3
ERBB4 erb-b2 receptor tyrosine kinase 4
EYA1 EYA transcriptional coactivator and phosphatase 1
FA2H fatty acid 2-hydroxylase
FBLN1 fibulin 1
FGF10 fibroblast growth factor 10
FKRP fukutin related protein
FOXF2 forkhead box F2
FYN FYN proto-oncogene, Src family tyrosine kinase
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GAP43 growth associated protein 43
GBX2 gastrulation brain homeobox 2
GDF11 growth differentiation factor 11
GDF15 growth differentiation factor 15
GDF6 growth differentiation factor 6
GFRA1 GDNF family receptor alpha 1
GLI3 GLI family zinc finger 3
GNPAT glyceronephosphate O-acyltransferase
GPR143 G protein-coupled receptor 143
GRB2 growth factor receptor-bound protein 2
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
HOXA1 homeobox A1
HOXA2 homeobox A2
HOXA3 homeobox A3
HOXB1 homeobox B1
HOXB2 homeobox B2
HOXB3 homeobox B3
HRK harakiri, BCL2 interacting protein
IGF1 insulin-like growth factor 1 (somatomedin C)
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KIF14 kinesin family member 14
KLF7 Kruppel-like factor 7 (ubiquitous)
KMT2A lysine (K)-specific methyltransferase 2A
LAMA2 laminin, alpha 2
LGALS1 lectin, galactoside-binding, soluble, 1
LMO4 LIM domain only 4
LMX1A LIM homeobox transcription factor 1, alpha
LMX1B LIM homeobox transcription factor 1, beta
MAL mal, T-cell differentiation protein
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MCOLN1 mucolipin 1
MEGF8 multiple EGF-like-domains 8
MITF microphthalmia-associated transcription factor
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MNX1 motor neuron and pancreas homeobox 1
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MTERF4 mitochondrial transcription termination factor 4
MYH10 myosin, heavy chain 10, non-muscle
NAV2 neuron navigator 2
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NEO1 neogenin 1
NEUROG1 neurogenin 1
NEUROG2 neurogenin 2
NKX2-8 NK2 homeobox 8
NKX6-2 NK6 homeobox 2
NMNAT2 nicotinamide nucleotide adenylyltransferase 2
NPC1 Niemann-Pick disease, type C1
NPR2 natriuretic peptide receptor 2
NR2E1 nuclear receptor subfamily 2, group E, member 1
NR6A1 nuclear receptor subfamily 6, group A, member 1
NRG1 neuregulin 1
NRP1 neuropilin 1
NRP2 neuropilin 2
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
OPA1 optic atrophy 1 (autosomal dominant)
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OTULIN OTU deubiquitinase with linear linkage specificity
OTX2 orthodenticle homeobox 2
PAX2 paired box 2
PAX6 paired box 6
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PHOX2A paired-like homeobox 2a
PHOX2B paired-like homeobox 2b
PLP1 proteolipid protein 1
PLXNA3 plexin A3
PLXNA4 plexin A4
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POU4F1 POU class 4 homeobox 1
POU4F2 POU class 4 homeobox 2
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRSS56 protease, serine, 56
PXDN peroxidasin
RAX retina and anterior neural fold homeobox
REG1B regenerating islet-derived 1 beta
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RPL24 ribosomal protein L24
RXRA retinoid X receptor, alpha
RYBP RING1 and YY1 binding protein
SALL3 spalt-like transcription factor 3
SCN1B sodium channel, voltage gated, type I beta subunit
SCRIB scribbled planar cell polarity protein
SCYL1 SCY1-like 1 (S. cerevisiae)
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA3F sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F
SH2D3C SH2 domain containing 3C
SIRT1 sirtuin 1
SIX1 SIX homeobox 1
SIX6 SIX homeobox 6
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC4A3 solute carrier family 4 (anion exchanger), member 3
SLC5A3 solute carrier family 5 (sodium/myo-inositol cotransporter), member 3
SLX4 SLX4 structure-specific endonuclease subunit
SMAD1 SMAD family member 1
SMOC1 SPARC related modular calcium binding 1
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SOX2 SRY (sex determining region Y)-box 2
SPTBN4 spectrin, beta, non-erythrocytic 4
TASP1 taspase, threonine aspartase, 1
TBCE tubulin folding cofactor E
TBX1 T-box 1
TBX10 T-box 10
TCOF1 Treacher Collins-Franceschetti syndrome 1
TDRD7 tudor domain containing 7
TFAM transcription factor A, mitochondrial
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFB1M transcription factor B1, mitochondrial
TP53 tumor protein p53
TUBB3 tubulin, beta 3 class III
UNC5C unc-5 homolog C (C. elegans)
VAX1 ventral anterior homeobox 1
VAX2 ventral anterior homeobox 2
VCL vinculin
VEGFA vascular endothelial growth factor A
VSX2 visual system homeobox 2
ZEB1 zinc finger E-box binding homeobox 1
ZIC3 Zic family member 3
ZNF423 zinc finger protein 423