abnormal eye physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A functional anomaly of the eye. (Human Phenotype Ontology, HP_0012373)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005253
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Genes

350 gene mutations causing the abnormal eye physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ACTA2 actin, alpha 2, smooth muscle, aorta
ADAM17 ADAM metallopeptidase domain 17
ADGRV1 adhesion G protein-coupled receptor V1
ADORA2A adenosine A2a receptor
ADORA3 adenosine A3 receptor
ADRB2 adrenoceptor beta 2, surface
AGTPBP1 ATP/GTP binding protein 1
AHI1 Abelson helper integration site 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
AIRE autoimmune regulator
ALMS1 Alstrom syndrome protein 1
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APOE apolipoprotein E
AQP4 aquaporin 4
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ASIC2 acid sensing (proton gated) ion channel 2
ASIC3 acid sensing (proton gated) ion channel 3
ATF2 activating transcription factor 2
ATF4 activating transcription factor 4
ATOH7 atonal homolog 7 (Drosophila)
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
BARHL2 BarH-like homeobox 2
BBS1 Bardet-Biedl syndrome 1
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BEST1 bestrophin 1
BEST2 bestrophin 2
BFSP2 beaded filament structural protein 2, phakinin
BHLHE23 basic helix-loop-helix family, member e23
BMP4 bone morphogenetic protein 4
BMPR1B bone morphogenetic protein receptor, type IB
BTD biotinidase
C1QTNF5 C1q and tumor necrosis factor related protein 5
C3 complement component 3
CABP4 calcium binding protein 4
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CAMP cathelicidin antimicrobial peptide
CBS cystathionine-beta-synthase
CCDC66 coiled-coil domain containing 66
CCND1 cyclin D1
CCR7 chemokine (C-C motif) receptor 7
CD36 CD36 molecule (thrombospondin receptor)
CDH23 cadherin-related 23
CDHR1 cadherin-related family member 1
CDKL5 cyclin-dependent kinase-like 5
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDO1 cysteine dioxygenase type 1
CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon
CEP290 centrosomal protein 290kDa
CERKL ceramide kinase-like
CFH complement factor H
CHD7 chromodomain helicase DNA binding protein 7
CHM choroideremia (Rab escort protein 1)
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal)
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)
CISD2 CDGSH iron sulfur domain 2
CLCN2 chloride channel, voltage-sensitive 2
CLCN3 chloride channel, voltage-sensitive 3
CLDN11 claudin 11
CLN5 ceroid-lipofuscinosis, neuronal 5
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB1 cyclic nucleotide gated channel beta 1
CNGB3 cyclic nucleotide gated channel beta 3
CNTNAP1 contactin associated protein 1
COL1A1 collagen, type I, alpha 1
COL4A1 collagen, type IV, alpha 1
COL4A5 collagen, type IV, alpha 5
CPLX3 complexin 3
CPLX4 complexin 4
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRHR1 corticotropin releasing hormone receptor 1
CRX cone-rod homeobox
CRYAA crystallin, alpha A
CRYGC crystallin, gamma C
CSF1 colony stimulating factor 1 (macrophage)
CSTB cystatin B (stefin B)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNS cystinosin, lysosomal cystine transporter
CTSD cathepsin D
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DDIT4 DNA-damage-inducible transcript 4
DFNB31 deafness, autosomal recessive 31
DMD dystrophin
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DNASE2B deoxyribonuclease II beta
DRD1 dopamine receptor D1
DRD4 dopamine receptor D4
DSCAM Down syndrome cell adhesion molecule
DSG3 desmoglein 3
DST dystonin
E2F1 E2F transcription factor 1
EDA ectodysplasin A
EGFLAM EGF-like, fibronectin type III and laminin G domains
EGR1 early growth response 1
EHD1 EH-domain containing 1
ELMOD1 ELMO/CED-12 domain containing 1
ELOVL4 ELOVL fatty acid elongase 4
EPAS1 endothelial PAS domain protein 1
ERC2 ELKS/RAB6-interacting/CAST family member 2
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
F3 coagulation factor III (thromboplastin, tissue factor)
FAM20C family with sequence similarity 20, member C
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FBLN1 fibulin 1
FES FES proto-oncogene, tyrosine kinase
FGF10 fibroblast growth factor 10
FGF9 fibroblast growth factor 9
FIGN fidgetin
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXC1 forkhead box C1
FOXE3 forkhead box E3
FOXN1 forkhead box N1
FOXN4 forkhead box N4
FOXP3 forkhead box P3
FSCN2 fascin actin-bundling protein 2, retinal
FZD4 frizzled class receptor 4
GABRR1 gamma-aminobutyric acid (GABA) A receptor, rho 1
GFRA2 GDNF family receptor alpha 2
GJA10 gap junction protein, alpha 10, 62kDa
GJA8 gap junction protein, alpha 8, 50kDa
GLRA1 glycine receptor, alpha 1
GLRA3 glycine receptor, alpha 3
GLRX2 glutaredoxin 2
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GNGT1 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPR179 G protein-coupled receptor 179
GRID2 glutamate receptor, ionotropic, delta 2
GRIN3A glutamate receptor, ionotropic, N-methyl-D-aspartate 3A
GRIP1 glutamate receptor interacting protein 1
GRK1 G protein-coupled receptor kinase 1
GRM6 glutamate receptor, metabotropic 6
GUCA1A guanylate cyclase activator 1A (retina)
GUCA1B guanylate cyclase activator 1B (retina)
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
GUCY2F guanylate cyclase 2F, retinal
HAPLN2 hyaluronan and proteoglycan link protein 2
HEXA hexosaminidase A (alpha polypeptide)
HOXB2 homeobox B2
HR hair growth associated
ICAM1 intercellular adhesion molecule 1
ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein
IDNK idnK, gluconokinase homolog (E. coli)
IL18 interleukin 18
IL4 interleukin 4
IL6ST interleukin 6 signal transducer
INHBB inhibin, beta B
INS insulin
IRX6 iroquois homeobox 6
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KIDINS220 kinase D-interacting substrate, 220kDa
KL klotho
KMT2E lysine (K)-specific methyltransferase 2E
L1CAM L1 cell adhesion molecule
LAMA1 laminin, alpha 1
LAMB2 laminin, beta 2 (laminin S)
LARGE like-glycosyltransferase
LBR lamin B receptor
LCA5 Leber congenital amaurosis 5
LEPR leptin receptor
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LHFPL2 lipoma HMGIC fusion partner-like 2
LIMK2 LIM domain kinase 2
LMX1B LIM homeobox transcription factor 1, beta
LPCAT1 lysophosphatidylcholine acyltransferase 1
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LTBP3 latent transforming growth factor beta binding protein 3
LUM lumican
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MAGED1 melanoma antigen family D1
MAP1B microtubule-associated protein 1B
MAP3K14 mitogen-activated protein kinase kinase kinase 14
MC5R melanocortin 5 receptor
MDM1 Mdm1 nuclear protein homolog (mouse)
MERTK MER proto-oncogene, tyrosine kinase
MFRP membrane frizzled-related protein
MIP major intrinsic protein of lens fiber
MITF microphthalmia-associated transcription factor
MMP9 matrix metallopeptidase 9
MPP4 membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MUC5AC mucin 5AC, oligomeric mucus/gel-forming
MYH9 myosin, heavy chain 9, non-muscle
MYO10 myosin X
MYO6 myosin VI
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
NAGLU N-acetylglucosaminidase, alpha
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NEUROD1 neuronal differentiation 1
NFKBIZ nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta
NGFR nerve growth factor receptor
NIPBL Nipped-B homolog (Drosophila)
NOS3 nitric oxide synthase 3 (endothelial cell)
NPHP4 nephronophthisis 4
NR2E1 nuclear receptor subfamily 2, group E, member 1
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
NRTN neurturin
NTN4 netrin 4
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NXNL1 nucleoredoxin-like 1
NXNL2 nucleoredoxin-like 2
NYX nyctalopin
OAT ornithine aminotransferase
OPA1 optic atrophy 1 (autosomal dominant)
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1SW opsin 1 (cone pigments), short-wave-sensitive
OPN4 opsin 4
ORAI1 ORAI calcium release-activated calcium modulator 1
OSTM1 osteopetrosis associated transmembrane protein 1
OTX2 orthodenticle homeobox 2
PANK2 pantothenate kinase 2
PAX6 paired box 6
PDC phosducin
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PEX1 peroxisomal biogenesis factor 1
PFDN5 prefoldin subunit 5
PHOX2B paired-like homeobox 2b
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLAT plasminogen activator, tissue
PLCB4 phospholipase C, beta 4
PLG plasminogen
PLIN2 perilipin 2
PLTP phospholipid transfer protein
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POU4F2 POU class 4 homeobox 2
PPIA peptidylprolyl isomerase A (cyclophilin A)
PPT1 palmitoyl-protein thioesterase 1
PROM1 prominin 1
PRPF3 pre-mRNA processing factor 3
PRPH2 peripherin 2 (retinal degeneration, slow)
PRSS56 protease, serine, 56
PSIP1 PC4 and SFRS1 interacting protein 1
PXDN peroxidasin
RAD23B RAD23 homolog B (S. cerevisiae)
RB1 retinoblastoma 1
RBP1 retinol binding protein 1, cellular
RBP3 retinol binding protein 3, interstitial
RBP4 retinol binding protein 4, plasma
RCVRN recoverin
RD3 retinal degeneration 3
RDH11 retinol dehydrogenase 11 (all-trans/9-cis/11-cis)
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RDH13 retinol dehydrogenase 13 (all-trans/9-cis)
RDH5 retinol dehydrogenase 5 (11-cis/9-cis)
RDH8 retinol dehydrogenase 8 (all-trans)
RELN reelin
RGPD1 RANBP2-like and GRIP domain containing 1
RGR retinal G protein coupled receptor
RGS11 regulator of G-protein signaling 11
RGS7 regulator of G-protein signaling 7
RGS9 regulator of G-protein signaling 9
RGS9BP regulator of G protein signaling 9 binding protein
RHO rhodopsin
RLBP1 retinaldehyde binding protein 1
ROCK1 Rho-associated, coiled-coil containing protein kinase 1
ROCK2 Rho-associated, coiled-coil containing protein kinase 2
ROM1 retinal outer segment membrane protein 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RORB RAR-related orphan receptor B
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP1L1 retinitis pigmentosa 1-like 1
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPL24 ribosomal protein L24
RS1 retinoschisin 1
SAG S-antigen; retina and pineal gland (arrestin)
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SELE selectin E
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SFTPC surfactant protein C
SH3BP2 SH3-domain binding protein 2
SH3PXD2B SH3 and PX domains 2B
SLC16A8 solute carrier family 16 (monocarboxylate transporter), member 8
SLC17A7 solute carrier family 17 (vesicular glutamate transporter), member 7
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC4A3 solute carrier family 4 (anion exchanger), member 3
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
SNAI2 snail family zinc finger 2
SOAT1 sterol O-acyltransferase 1
SOCS1 suppressor of cytokine signaling 1
SOD1 superoxide dismutase 1, soluble
SORT1 sortilin 1
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SPNS2 spinster homolog 2 (Drosophila)
SSTR1 somatostatin receptor 1
STRA6 stimulated by retinoic acid 6
SV2B synaptic vesicle glycoprotein 2B
SYNE1 spectrin repeat containing, nuclear envelope 1
TDRD7 tudor domain containing 7
TENM2 teneurin transmembrane protein 2
TGFA transforming growth factor, alpha
TGFB1 transforming growth factor, beta 1
THBS1 thrombospondin 1
THRB thyroid hormone receptor, beta
TMEM79 transmembrane protein 79
TOM1L2 target of myb1-like 2 (chicken)
TP73 tumor protein p73
TRAF3IP2 TRAF3 interacting protein 2
TRPC3 transient receptor potential cation channel, subfamily C, member 3
TRPC6 transient receptor potential cation channel, subfamily C, member 6
TRPC7 transient receptor potential cation channel, subfamily C, member 7
TRPM1 transient receptor potential cation channel, subfamily M, member 1
TSHR thyroid stimulating hormone receptor
TSPAN12 tetraspanin 12
TTPA tocopherol (alpha) transfer protein
TUB tubby bipartite transcription factor
TULP1 tubby like protein 1
TYR tyrosinase
UBE3B ubiquitin protein ligase E3B
UCHL3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
UNC119 unc-119 homolog (C. elegans)
UNC13B unc-13 homolog B (C. elegans)
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VAV2 vav 2 guanine nucleotide exchange factor
VEGFA vascular endothelial growth factor A
VSX1 visual system homeobox 1
XCL1 chemokine (C motif) ligand 1
XPC xeroderma pigmentosum, complementation group C
XRCC5 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)
ZFP36 ZFP36 ring finger protein
ZNF274 zinc finger protein 274