abnormal cranial ganglia morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the groups of nerve cell bodies associated with the twelve cranial nerves (Mammalian Phenotype Ontology, MP_0001081)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001081
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Genes

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

Symbol Name
ADGRV1 adhesion G protein-coupled receptor V1
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
AP3D1 adaptor-related protein complex 3, delta 1 subunit
APOE apolipoprotein E
ARHGAP35 Rho GTPase activating protein 35
ARSA arylsulfatase A
ATF2 activating transcription factor 2
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
BDNF brain-derived neurotrophic factor
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CASP3 caspase 3, apoptosis-related cysteine peptidase
CDH23 cadherin-related 23
CHD7 chromodomain helicase DNA binding protein 7
CHRD chordin
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLIC5 chloride intracellular channel 5
COL2A1 collagen, type II, alpha 1
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CSK c-src tyrosine kinase
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1
CYS1 cystin 1
DLX5 distal-less homeobox 5
DST dystonin
EFNB1 ephrin-B1
EFNB2 ephrin-B2
EGR2 early growth response 2
ELMOD1 ELMO/CED-12 domain containing 1
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB3 erb-b2 receptor tyrosine kinase 3
ERBB4 erb-b2 receptor tyrosine kinase 4
ESPN espin
EYA1 EYA transcriptional coactivator and phosphatase 1
FBXO2 F-box protein 2
FGF3 fibroblast growth factor 3
FGFR2 fibroblast growth factor receptor 2
FOLR1 folate receptor 1 (adult)
FOXC1 forkhead box C1
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5
GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GBX2 gastrulation brain homeobox 2
GDNF glial cell derived neurotrophic factor
GFI1 growth factor independent 1 transcription repressor
GFRA1 GDNF family receptor alpha 1
GLI3 GLI family zinc finger 3
GPX1 glutathione peroxidase 1
GRXCR1 glutaredoxin, cysteine rich 1
HIPK2 homeodomain interacting protein kinase 2
HOXA1 homeobox A1
HOXB2 homeobox B2
HPN hepsin
HR hair growth associated
IDUA iduronidase, alpha-L-
IGF1 insulin-like growth factor 1 (somatomedin C)
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KIFAP3 kinesin-associated protein 3
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KMT2A lysine (K)-specific methyltransferase 2A
LHFPL5 lipoma HMGIC fusion partner-like 5
LMX1A LIM homeobox transcription factor 1, alpha
LOC102723475 putative uncharacterized protein LOC388820
LOXHD1 lipoxygenase homology domains 1
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
MAN2B1 mannosidase, alpha, class 2B, member 1
MARVELD2 MARVEL domain containing 2
MCOLN3 mucolipin 3
MECOM MDS1 and EVI1 complex locus
MPV17 MpV17 mitochondrial inner membrane protein
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYO15A myosin XVA
MYO6 myosin VI
MYO7A myosin VIIA
NDP Norrie disease (pseudoglioma)
NEUROG1 neurogenin 1
NEUROG2 neurogenin 2
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NGFR nerve growth factor receptor
NOTCH1 notch 1
NPC1 Niemann-Pick disease, type C1
NR2F1 nuclear receptor subfamily 2, group F, member 1
NRG1 neuregulin 1
NTF3 neurotrophin 3
NTF4 neurotrophin 4
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
OTOP1 otopetrin 1
PAX2 paired box 2
PCDH15 protocadherin-related 15
PHEX phosphate regulating endopeptidase homolog, X-linked
PHOX2A paired-like homeobox 2a
PHOX2B paired-like homeobox 2b
POLG polymerase (DNA directed), gamma
POU4F1 POU class 4 homeobox 1
POU4F3 POU class 4 homeobox 3
PTK7 protein tyrosine kinase 7 (inactive)
RB1 retinoblastoma 1
RDH10 retinol dehydrogenase 10 (all-trans)
RGN regucalcin
S1PR2 sphingosine-1-phosphate receptor 2
SCARB2 scavenger receptor class B, member 2
SCUBE1 signal peptide, CUB domain, EGF-like 1
SHH sonic hedgehog
SIX1 SIX homeobox 1
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC12A7 solute carrier family 12 (potassium/chloride transporter), member 7
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC26A5 solute carrier family 26 (anion exchanger), member 5
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
SLITRK6 SLIT and NTRK-like family, member 6
SOD1 superoxide dismutase 1, soluble
SOSTDC1 sclerostin domain containing 1
SOX10 SRY (sex determining region Y)-box 10
SRRM4 serine/arginine repetitive matrix 4
SYNJ2 synaptojanin 2
TBX1 T-box 1
TBX10 T-box 10
TCOF1 Treacher Collins-Franceschetti syndrome 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB2 transforming growth factor, beta 2
TMC1 transmembrane channel-like 1
TMIE transmembrane inner ear
TMPRSS3 transmembrane protease, serine 3
TP73 tumor protein p73
TUB tubby bipartite transcription factor
USH1C Usher syndrome 1C (autosomal recessive, severe)
VAC14 Vac14 homolog (S. cerevisiae)
ZIC5 Zic family member 5