abnormal eye development Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description malformation or arrest of differentiation of the visual organ (Mammalian Phenotype Ontology, MP_0001286)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001286
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Genes

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

Symbol Name
ABI2 abl-interactor 2
ACVR2A activin A receptor, type IIA
ADAM17 ADAM metallopeptidase domain 17
AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
AHR aryl hydrocarbon receptor
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALDH1A3 aldehyde dehydrogenase 1 family, member A3
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ALX3 ALX homeobox 3
ANGPT2 angiopoietin 2
APAF1 apoptotic peptidase activating factor 1
ARHGAP35 Rho GTPase activating protein 35
ARID1A AT rich interactive domain 1A (SWI-like)
ATOH7 atonal homolog 7 (Drosophila)
ATP11A ATPase, class VI, type 11A
B9D2 B9 protein domain 2
BARHL2 BarH-like homeobox 2
BCAR3 breast cancer anti-estrogen resistance 3
BMP4 bone morphogenetic protein 4
BMP7 bone morphogenetic protein 7
BRD1 bromodomain containing 1
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP6 caspase 6, apoptosis-related cysteine peptidase
CBS cystathionine-beta-synthase
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDKN2A cyclin-dependent kinase inhibitor 2A
CEP41 centrosomal protein 41kDa
CFL1 cofilin 1 (non-muscle)
CHD7 chromodomain helicase DNA binding protein 7
CHTOP chromatin target of PRMT1
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLSTN1 calsyntenin 1
COL18A1 collagen, type XVIII, alpha 1
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like)
CRYAA crystallin, alpha A
CRYGA crystallin, gamma A
CRYGD crystallin, gamma D
CSK c-src tyrosine kinase
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CSRP2BP CSRP2 binding protein
DDX55 DEAD (Asp-Glu-Ala-Asp) box polypeptide 55
DISP1 dispatched homolog 1 (Drosophila)
DKK1 dickkopf WNT signaling pathway inhibitor 1
DSC1 desmocollin 1
E2F1 E2F transcription factor 1
EGFR epidermal growth factor receptor
EHD1 EH-domain containing 1
FAM20B family with sequence similarity 20, member B
FANCI Fanconi anemia, complementation group I
FAT1 FAT atypical cadherin 1
FBXO47 F-box protein 47
FGF10 fibroblast growth factor 10
FGF9 fibroblast growth factor 9
FIGN fidgetin
FOLR1 folate receptor 1 (adult)
FOXA2 forkhead box A2
FOXC1 forkhead box C1
FOXE3 forkhead box E3
FOXF2 forkhead box F2
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
FZD4 frizzled class receptor 4
GAS1 growth arrest-specific 1
GDF11 growth differentiation factor 11
GJA8 gap junction protein, alpha 8, 50kDa
GJE1 gap junction protein, epsilon 1, 23kDa
GLCE glucuronic acid epimerase
GLI3 GLI family zinc finger 3
GNPAT glyceronephosphate O-acyltransferase
GPR161 G protein-coupled receptor 161
GRHL2 grainyhead-like 2 (Drosophila)
GRIP1 glutamate receptor interacting protein 1
HESX1 HESX homeobox 1
HHAT hedgehog acyltransferase
HHEX hematopoietically expressed homeobox
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
HSF4 heat shock transcription factor 4
IFT122 intraflagellar transport 122
IFT88 intraflagellar transport 88
IGF2 insulin-like growth factor 2
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IKZF2 IKAROS family zinc finger 2 (Helios)
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
JAG1 jagged 1
JUN jun proto-oncogene
KDM2B lysine (K)-specific demethylase 2B
KIFAP3 kinesin-associated protein 3
LAMA1 laminin, alpha 1
LAMB2 laminin, beta 2 (laminin S)
LEF1 lymphoid enhancer-binding factor 1
LHX2 LIM homeobox 2
LIM2 lens intrinsic membrane protein 2, 19kDa
LIMK2 LIM domain kinase 2
LRP5 low density lipoprotein receptor-related protein 5
LRP6 low density lipoprotein receptor-related protein 6
LUM lumican
LUZP1 leucine zipper protein 1
MAB21L1 mab-21-like 1 (C. elegans)
MAB21L2 mab-21-like 2 (C. elegans)
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MAP1B microtubule-associated protein 1B
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MARCH5 membrane-associated ring finger (C3HC4) 5
MBD4 methyl-CpG binding domain protein 4
MED1 mediator complex subunit 1
MIP major intrinsic protein of lens fiber
MITF microphthalmia-associated transcription factor
MSX2 msh homeobox 2
MTA1 metastasis associated 1
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYD88 myeloid differentiation primary response 88
MYF5 myogenic factor 5
MYO10 myosin X
MYO7A myosin VIIA
NCSTN nicastrin
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NFIB nuclear factor I/B
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NOG noggin
NOTCH2 notch 2
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NR2E1 nuclear receptor subfamily 2, group E, member 1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
OSR2 odd-skipped related transciption factor 2
OTX2 orthodenticle homeobox 2
OVOL2 ovo-like zinc finger 2
PAX2 paired box 2
PAX6 paired box 6
PCSK6 proprotein convertase subtilisin/kexin type 6
PGAP1 post-GPI attachment to proteins 1
PHACTR4 phosphatase and actin regulator 4
PHC1 polyhomeotic homolog 1 (Drosophila)
PHF20 PHD finger protein 20
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PITX2 paired-like homeodomain 2
PITX3 paired-like homeodomain 3
PKNOX1 PBX/knotted 1 homeobox 1
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PRKCZ protein kinase C, zeta
PROX1 prospero homeobox 1
PRPH2 peripherin 2 (retinal degeneration, slow)
PTF1A pancreas specific transcription factor, 1a
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PXDN peroxidasin
PYGO2 pygopus family PHD finger 2
RAB23 RAB23, member RAS oncogene family
RARB retinoic acid receptor, beta
RAX retina and anterior neural fold homeobox
RB1 retinoblastoma 1
RDH10 retinol dehydrogenase 10 (all-trans)
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RERE arginine-glutamic acid dipeptide (RE) repeats
RHO rhodopsin
RORB RAR-related orphan receptor B
RPL24 ribosomal protein L24
RPS7 ribosomal protein S7
RXRA retinoid X receptor, alpha
RYBP RING1 and YY1 binding protein
SEC24B SEC24 family member B
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEP15 15 kDa selenoprotein
SFN stratifin
SHH sonic hedgehog
SIRT1 sirtuin 1
SIX3 SIX homeobox 3
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SMAD2 SMAD family member 2
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase
SMO smoothened, frizzled class receptor
SMOC1 SPARC related modular calcium binding 1
SOX1 SRY (sex determining region Y)-box 1
SPI1 Spi-1 proto-oncogene
STRA6 stimulated by retinoic acid 6
TBC1D32 TBC1 domain family, member 32
TBX10 T-box 10
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box)
TCOF1 Treacher Collins-Franceschetti syndrome 1
TDGF1 teratocarcinoma-derived growth factor 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFA transforming growth factor, alpha
TGFB2 transforming growth factor, beta 2
TICAM1 toll-like receptor adaptor molecule 1
TLR4 toll-like receptor 4
TP53BP2 tumor protein p53 binding protein 2
TSPAN12 tetraspanin 12
TULP3 tubby like protein 3
TWSG1 twisted gastrulation BMP signaling modulator 1
VANGL2 VANGL planar cell polarity protein 2
VAX1 ventral anterior homeobox 1
VAX2 ventral anterior homeobox 2
VEGFA vascular endothelial growth factor A
VSX2 visual system homeobox 2
WNT7B wingless-type MMTV integration site family, member 7B
ZIC5 Zic family member 5
ZNRF3 zinc and ring finger 3
ZRANB2 zinc finger, RAN-binding domain containing 2