abnormal retinal ganglion layer morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain (Mammalian Phenotype Ontology, MP_0005241)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005241
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Genes

76 gene mutations causing the abnormal retinal ganglion layer 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
ALCAM activated leukocyte cell adhesion molecule
ASIC3 acid sensing (proton gated) ion channel 3
ASPA aspartoacylase
ATOH7 atonal homolog 7 (Drosophila)
BARHL2 BarH-like homeobox 2
BCAR3 breast cancer anti-estrogen resistance 3
BCL2 B-cell CLL/lymphoma 2
BMP4 bone morphogenetic protein 4
BMPR1B bone morphogenetic protein receptor, type IB
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CCND1 cyclin D1
CDKN2A cyclin-dependent kinase inhibitor 2A
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)
FAT3 FAT atypical cadherin 3
FKRP fukutin related protein
FOXN4 forkhead box N4
FST follistatin
GAS1 growth arrest-specific 1
GDF11 growth differentiation factor 11
GJD2 gap junction protein, delta 2, 36kDa
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
HR hair growth associated
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
INS insulin
L1CAM L1 cell adhesion molecule
LAMA1 laminin, alpha 1
LARGE like-glycosyltransferase
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)
NDP Norrie disease (pseudoglioma)
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
PAX6 paired box 6
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
SCRIB scribbled planar cell polarity protein
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
SIX6 SIX homeobox 6
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
TENM2 teneurin transmembrane protein 2
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TRIM2 tripartite motif containing 2
TYR tyrosinase
VAX2 ventral anterior homeobox 2