abnormal retinal inner nuclear layer morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells (Mammalian Phenotype Ontology, MP_0003733)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003733
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Genes

49 gene mutations causing the abnormal retinal inner nuclear layer morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
APOE apolipoprotein E
ASIC3 acid sensing (proton gated) ion channel 3
ATOH7 atonal homolog 7 (Drosophila)
BARHL2 BarH-like homeobox 2
BHLHE22 basic helix-loop-helix family, member e22
BMP4 bone morphogenetic protein 4
CASP3 caspase 3, apoptosis-related cysteine peptidase
CDKN2A cyclin-dependent kinase inhibitor 2A
CLCN7 chloride channel, voltage-sensitive 7
CLN3 ceroid-lipofuscinosis, neuronal 3
CP ceruloplasmin (ferroxidase)
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
DSCAM Down syndrome cell adhesion molecule
DSCAML1 Down syndrome cell adhesion molecule like 1
EPAS1 endothelial PAS domain protein 1
FKRP fukutin related protein
FSCN2 fascin actin-bundling protein 2, retinal
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
LAMA1 laminin, alpha 1
LARGE like-glycosyltransferase
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LHFPL2 lipoma HMGIC fusion partner-like 2
LRP5 low density lipoprotein receptor-related protein 5
MAB21L1 mab-21-like 1 (C. elegans)
MAP1B microtubule-associated protein 1B
MCOLN1 mucolipin 1
MDM1 Mdm1 nuclear protein homolog (mouse)
NDP Norrie disease (pseudoglioma)
NEUROD1 neuronal differentiation 1
NPHP4 nephronophthisis 4
NR2E1 nuclear receptor subfamily 2, group E, member 1
OTX2 orthodenticle homeobox 2
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime
PFDN5 prefoldin subunit 5
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POU4F2 POU class 4 homeobox 2
RELN reelin
RHO rhodopsin
RORB RAR-related orphan receptor B
RPL24 ribosomal protein L24
RS1 retinoschisin 1
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SIRT1 sirtuin 1
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SOD2 superoxide dismutase 2, mitochondrial
TRIM2 tripartite motif containing 2
TULP1 tubby like protein 1
VLDLR very low density lipoprotein receptor