abnormal eye size Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description deviation from the average range of eye size for a given organism (Mammalian Phenotype Ontology, MP_0002697)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002697
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Genes

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

Symbol Name
ABI2 abl-interactor 2
ADAM17 ADAM metallopeptidase domain 17
AGPS alkylglycerone phosphate synthase
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ARHGAP35 Rho GTPase activating protein 35
ASXL1 additional sex combs like transcriptional regulator 1
ATF4 activating transcription factor 4
ATOX1 antioxidant 1 copper chaperone
B9D1 B9 protein domain 1
BMP4 bone morphogenetic protein 4
BMP7 bone morphogenetic protein 7
BMPER BMP binding endothelial regulator
BRD4 bromodomain containing 4
CASP3 caspase 3, apoptosis-related cysteine peptidase
CBS cystathionine-beta-synthase
CC2D2A coiled-coil and C2 domain containing 2A
CDKN2A cyclin-dependent kinase inhibitor 2A
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal)
CISD2 CDGSH iron sulfur domain 2
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
CRYAB crystallin, alpha B
CRYBA1 crystallin, beta A1
CRYBB2 crystallin, beta B2
CRYGA crystallin, gamma A
CRYGC crystallin, gamma C
CSRP2BP CSRP2 binding protein
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DNAH11 dynein, axonemal, heavy chain 11
DNM2 dynamin 2
DPY19L3 dpy-19-like 3 (C. elegans)
DSC1 desmocollin 1
EGFR epidermal growth factor receptor
EGR1 early growth response 1
EHD1 EH-domain containing 1
EP300 E1A binding protein p300
FANCA Fanconi anemia, complementation group A
FANCD2 Fanconi anemia, complementation group D2
FAT1 FAT atypical cadherin 1
FGF10 fibroblast growth factor 10
FH fumarate hydratase
FIGN fidgetin
FKBP8 FK506 binding protein 8, 38kDa
FKRP fukutin related protein
FMOD fibromodulin
FOXC1 forkhead box C1
FOXE3 forkhead box E3
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
FRS2 fibroblast growth factor receptor substrate 2
FUZ fuzzy planar cell polarity protein
GAS1 growth arrest-specific 1
GJA8 gap junction protein, alpha 8, 50kDa
GJE1 gap junction protein, epsilon 1, 23kDa
GLI3 GLI family zinc finger 3
GNPAT glyceronephosphate O-acyltransferase
GRIP1 glutamate receptor interacting protein 1
HECTD1 HECT domain containing E3 ubiquitin protein ligase 1
HESX1 HESX homeobox 1
HHAT hedgehog acyltransferase
HIP1 huntingtin interacting protein 1
HMX1 H6 family homeobox 1
HSF4 heat shock transcription factor 4
HSPG2 heparan sulfate proteoglycan 2
IDS iduronate 2-sulfatase
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INTU inturned planar cell polarity protein
KAT6B K(lysine) acetyltransferase 6B
KIF7 kinesin family member 7
KLHDC2 kelch domain containing 2
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LIM2 lens intrinsic membrane protein 2, 19kDa
LMX1B LIM homeobox transcription factor 1, beta
LRP2 low density lipoprotein receptor-related protein 2
LRP6 low density lipoprotein receptor-related protein 6
MAB21L1 mab-21-like 1 (C. elegans)
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MIP major intrinsic protein of lens fiber
MITF microphthalmia-associated transcription factor
MKS1 Meckel syndrome, type 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MSX2 msh homeobox 2
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NF1 neurofibromin 1
NOTCH2 notch 2
OTX2 orthodenticle homeobox 2
PAH phenylalanine hydroxylase
PAX6 paired box 6
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDGFB platelet-derived growth factor beta polypeptide
PGAP1 post-GPI attachment to proteins 1
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PITX2 paired-like homeodomain 2
PITX3 paired-like homeodomain 3
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PRSS56 protease, serine, 56
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PVRL3 poliovirus receptor-related 3
PXDN peroxidasin
PYGO2 pygopus family PHD finger 2
RAX retina and anterior neural fold homeobox
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RERE arginine-glutamic acid dipeptide (RE) repeats
RPGRIP1L RPGRIP1-like
RPL24 ribosomal protein L24
RPS7 ribosomal protein S7
RYK receptor-like tyrosine kinase
SCRIB scribbled planar cell polarity protein
SFN stratifin
SH3PXD2B SH3 and PX domains 2B
SHH sonic hedgehog
SIRT1 sirtuin 1
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLX4 SLX4 structure-specific endonuclease subunit
SMOC1 SPARC related modular calcium binding 1
SOX1 SRY (sex determining region Y)-box 1
SOX11 SRY (sex determining region Y)-box 11
SOX2 SRY (sex determining region Y)-box 2
SPNS2 spinster homolog 2 (Drosophila)
STRA6 stimulated by retinoic acid 6
TBC1D20 TBC1 domain family, member 20
TBC1D32 TBC1 domain family, member 32
TCTN2 tectonic family member 2
TGFA transforming growth factor, alpha
THBS1 thrombospondin 1
TKT transketolase
TMC1 transmembrane channel-like 1
TMC8 transmembrane channel-like 8
TMEM107 transmembrane protein 107
TMEM231 transmembrane protein 231
TRAF3IP1 TNF receptor-associated factor 3 interacting protein 1
TWSG1 twisted gastrulation BMP signaling modulator 1
VAX2 ventral anterior homeobox 2
VSX2 visual system homeobox 2
ZIC5 Zic family member 5