abnormal retinal ganglion cell morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain (Mammalian Phenotype Ontology, MP_0008056)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008056
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Genes

54 gene mutations causing the abnormal retinal ganglion cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADRB2 adrenoceptor beta 2, surface
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ASIC3 acid sensing (proton gated) ion channel 3
ATOH7 atonal homolog 7 (Drosophila)
BARHL2 BarH-like homeobox 2
BCAR3 breast cancer anti-estrogen resistance 3
BCL2 B-cell CLL/lymphoma 2
BMPR1B bone morphogenetic protein receptor, type IB
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CLN3 ceroid-lipofuscinosis, neuronal 3
COL4A1 collagen, type IV, alpha 1
DSCAM Down syndrome cell adhesion molecule
DSCAML1 Down syndrome cell adhesion molecule like 1
E2F1 E2F transcription factor 1
FASLG Fas ligand (TNF superfamily, member 6)
FOXN4 forkhead box N4
GDF11 growth differentiation factor 11
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
L1CAM L1 cell adhesion molecule
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LRP5 low density lipoprotein receptor-related protein 5
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
NEUROD1 neuronal differentiation 1
NGFR nerve growth factor receptor
NR2E1 nuclear receptor subfamily 2, group E, member 1
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)
OPN4 opsin 4
OTX2 orthodenticle homeobox 2
PANX1 pannexin 1
PAX2 paired box 2
PDCD1 programmed cell death 1
PLXNA4 plexin A4
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POU4F2 POU class 4 homeobox 2
PRSS56 protease, serine, 56
PTF1A pancreas specific transcription factor, 1a
PTPN13 protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)
PTPRF protein tyrosine phosphatase, receptor type, F
PXDN peroxidasin
RORB RAR-related orphan receptor B
RPL24 ribosomal protein L24
SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
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
SMOC1 SPARC related modular calcium binding 1
SOD1 superoxide dismutase 1, soluble
SORT1 sortilin 1
TRIM2 tripartite motif containing 2
VAX2 ventral anterior homeobox 2