abnormal optic nerve 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:0001330
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Genes

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

Symbol Name
ANK2 ankyrin 2, neuronal
ATOH7 atonal homolog 7 (Drosophila)
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
BMP4 bone morphogenetic protein 4
CISD2 CDGSH iron sulfur domain 2
CLCN7 chloride channel, voltage-sensitive 7
COL4A1 collagen, type IV, alpha 1
DCC DCC netrin 1 receptor
DNASE1L2 deoxyribonuclease I-like 2
EPHB1 EPH receptor B1
FA2H fatty acid 2-hydroxylase
FGF10 fibroblast growth factor 10
FKRP fukutin related protein
FOXF2 forkhead box F2
FYN FYN proto-oncogene, Src family tyrosine kinase
GAP43 growth associated protein 43
GDF11 growth differentiation factor 11
GDF6 growth differentiation factor 6
GLI3 GLI family zinc finger 3
GNPAT glyceronephosphate O-acyltransferase
GPR143 G protein-coupled receptor 143
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
KIF14 kinesin family member 14
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
MITF microphthalmia-associated transcription factor
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MTERF4 mitochondrial transcription termination factor 4
NAV2 neuron navigator 2
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NKX6-2 NK6 homeobox 2
NMNAT2 nicotinamide nucleotide adenylyltransferase 2
NR2E1 nuclear receptor subfamily 2, group E, member 1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
OPA1 optic atrophy 1 (autosomal dominant)
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OTX2 orthodenticle homeobox 2
PAX2 paired box 2
PAX6 paired box 6
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PLP1 proteolipid protein 1
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
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
RPL24 ribosomal protein L24
RXRA retinoid X receptor, alpha
RYBP RING1 and YY1 binding protein
SCN1B sodium channel, voltage gated, type I beta subunit
SCRIB scribbled planar cell polarity protein
SCYL1 SCY1-like 1 (S. cerevisiae)
SIRT1 sirtuin 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
SLX4 SLX4 structure-specific endonuclease subunit
SMOC1 SPARC related modular calcium binding 1
SOD2 superoxide dismutase 2, mitochondrial
SOX2 SRY (sex determining region Y)-box 2
SPTBN4 spectrin, beta, non-erythrocytic 4
TDRD7 tudor domain containing 7
TFAM transcription factor A, mitochondrial
TFB1M transcription factor B1, mitochondrial
TP53 tumor protein p53
VAX1 ventral anterior homeobox 1
VAX2 ventral anterior homeobox 2
VSX2 visual system homeobox 2