abnormal anterior eye segment morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of any of the parts of the eye that lie in front of, or ventral to, the lens (inclusive) (Mammalian Phenotype Ontology, MP_0005193)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005193
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Genes

352 gene mutations causing the abnormal anterior eye segment morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ABI2 abl-interactor 2
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACT actin-like protein (ACT) gene
ADAM17 ADAM metallopeptidase domain 17
AFF1 AF4/FMR2 family, member 1
AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGPS alkylglycerone phosphate synthase
AHCYL1 adenosylhomocysteinase-like 1
AIRE autoimmune regulator
ALDH1A3 aldehyde dehydrogenase 1 family, member A3
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ANK2 ankyrin 2, neuronal
ANKRD12 ankyrin repeat domain 12
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APAF1 apoptotic peptidase activating factor 1
APOE apolipoprotein E
ARHGEF4 Rho guanine nucleotide exchange factor (GEF) 4
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ARSB arylsulfatase B
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATF4 activating transcription factor 4
ATRAID all-trans retinoic acid-induced differentiation factor
B9D1 B9 protein domain 1
BCAR3 breast cancer anti-estrogen resistance 3
BFSP1 beaded filament structural protein 1, filensin
BFSP2 beaded filament structural protein 2, phakinin
BIN3 bridging integrator 3
BMP4 bone morphogenetic protein 4
BMP7 bone morphogenetic protein 7
BNC1 basonuclin 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRD1 bromodomain containing 1
BRD4 bromodomain containing 4
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C1ORF198 chromosome 1 open reading frame 198
CAMP cathelicidin antimicrobial peptide
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP6 caspase 6, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD28 CD28 molecule
CD36 CD36 molecule (thrombospondin receptor)
CDC14B cell division cycle 14B
CDH23 cadherin-related 23
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDKN2A cyclin-dependent kinase inhibitor 2A
CEBPE CCAAT/enhancer binding protein (C/EBP), epsilon
CENPJ centromere protein J
CEP41 centrosomal protein 41kDa
CHRM3 cholinergic receptor, muscarinic 3
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal)
CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal)
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
CHUK conserved helix-loop-helix ubiquitous kinase
CISD2 CDGSH iron sulfur domain 2
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLK1 CDC-like kinase 1
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A5 collagen, type IV, alpha 5
COL5A2 collagen, type V, alpha 2
COL8A1 collagen, type VIII, alpha 1
COL8A2 collagen, type VIII, alpha 2
CPOX coproporphyrinogen oxidase
CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like)
CRYAA crystallin, alpha A
CRYAB crystallin, alpha B
CRYBA1 crystallin, beta A1
CRYBA2 crystallin, beta A2
CRYBB2 crystallin, beta B2
CRYGA crystallin, gamma A
CRYGB crystallin, gamma B
CRYGC crystallin, gamma C
CRYGD crystallin, gamma D
CRYGS crystallin, gamma S
CSK c-src tyrosine kinase
CSRP2BP CSRP2 binding protein
CSTB cystatin B (stefin B)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNS cystinosin, lysosomal cystine transporter
CTSV cathepsin V
CXCR2 chemokine (C-X-C motif) receptor 2
CYB561 cytochrome b561
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
DCT dopachrome tautomerase
DCTN5 dynactin 5 (p25)
DKK2 dickkopf WNT signaling pathway inhibitor 2
DLG1 discs, large homolog 1 (Drosophila)
DMD dystrophin
DNASE2B deoxyribonuclease II beta
DOCK5 dedicator of cytokinesis 5
DPP9 dipeptidyl-peptidase 9
DPT dermatopontin
DSC1 desmocollin 1
DSG1 desmoglein 1
DSG3 desmoglein 3
DST dystonin
DSTN destrin (actin depolymerizing factor)
DTNBP1 dystrobrevin binding protein 1
DYNLL1 dynein, light chain, LC8-type 1
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EGFR epidermal growth factor receptor
EGLN3 egl-9 family hypoxia-inducible factor 3
EGR1 early growth response 1
EHD1 EH-domain containing 1
ELK4 ELK4, ETS-domain protein (SRF accessory protein 1)
EMID1 EMI domain containing 1
EPHA2 EPH receptor A2
ERCC2 excision repair cross-complementation group 2
FABP3 fatty acid binding protein 3, muscle and heart
FAM134C family with sequence similarity 134, member C
FAS Fas cell surface death receptor
FAT1 FAT atypical cadherin 1
FBXO47 F-box protein 47
FES FES proto-oncogene, tyrosine kinase
FGF10 fibroblast growth factor 10
FGF11 fibroblast growth factor 11
FGF9 fibroblast growth factor 9
FH fumarate hydratase
FHL1 four and a half LIM domains 1
FIGN fidgetin
FKRP fukutin related protein
FLNA filamin A, alpha
FLT1 fms-related tyrosine kinase 1
FMOD fibromodulin
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXE3 forkhead box E3
FOXF2 forkhead box F2
FOXN1 forkhead box N1
FOXP3 forkhead box P3
FREM1 FRAS1 related extracellular matrix 1
GALNS galactosamine (N-acetyl)-6-sulfatase
GAS1 growth arrest-specific 1
GGT1 gamma-glutamyltransferase 1
GJA1 gap junction protein, alpha 1, 43kDa
GJA8 gap junction protein, alpha 8, 50kDa
GJE1 gap junction protein, epsilon 1, 23kDa
GLCE glucuronic acid epimerase
GLI3 GLI family zinc finger 3
GLRX glutaredoxin (thioltransferase)
GMNN geminin, DNA replication inhibitor
GNPAT glyceronephosphate O-acyltransferase
GPNMB glycoprotein (transmembrane) nmb
GPR143 G protein-coupled receptor 143
GPR161 G protein-coupled receptor 161
GPX1 glutathione peroxidase 1
GRHL3 grainyhead-like 3 (Drosophila)
GRIP1 glutamate receptor interacting protein 1
GSK3A glycogen synthase kinase 3 alpha
GSTA3 glutathione S-transferase alpha 3
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
HESX1 HESX homeobox 1
HHAT hedgehog acyltransferase
HIP1 huntingtin interacting protein 1
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSF4 heat shock transcription factor 4
IFNAR1 interferon (alpha, beta and omega) receptor 1
IFNG interferon, gamma
IGF2 insulin-like growth factor 2
IL6ST interleukin 6 signal transducer
INHBB inhibin, beta B
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB4 integrin, beta 4
JAG1 jagged 1
JMJD1C jumonji domain containing 1C
KDM4C lysine (K)-specific demethylase 4C
KDM8 lysine (K)-specific demethylase 8
KERA keratocan
KLHDC2 kelch domain containing 2
KLHL20 kelch-like family member 20
KLKB1 kallikrein B, plasma (Fletcher factor) 1
KRT12 keratin 12, type I
KRT14 keratin 14, type I
KRT4 keratin 4, type II
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LHFPL2 lipoma HMGIC fusion partner-like 2
LHX2 LIM homeobox 2
LIM2 lens intrinsic membrane protein 2, 19kDa
LIMK2 LIM domain kinase 2
LMX1B LIM homeobox transcription factor 1, beta
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
LUM lumican
LYST lysosomal trafficking regulator
MAB21L1 mab-21-like 1 (C. elegans)
MAB21L2 mab-21-like 2 (C. elegans)
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MAN2B1 mannosidase, alpha, class 2B, member 1
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MAPT microtubule-associated protein tau
MBNL1 muscleblind-like splicing regulator 1
MCPH1 microcephalin 1
MED1 mediator complex subunit 1
MEIS1 Meis homeobox 1
MIP major intrinsic protein of lens fiber
MITF microphthalmia-associated transcription factor
MPI mannose phosphate isomerase
MSX2 msh homeobox 2
MUC5AC mucin 5AC, oligomeric mucus/gel-forming
MYBBP1A MYB binding protein (P160) 1a
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH9 myosin, heavy chain 9, non-muscle
MYO10 myosin X
MYSM1 Myb-like, SWIRM and MPN domains 1
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NCAPH non-SMC condensin I complex, subunit H
NCOA6 nuclear receptor coactivator 6
NDRG1 N-myc downstream regulated 1
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NFKBIZ nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NID1 nidogen 1
NKIRAS2 NFKB inhibitor interacting Ras-like 2
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOTCH1 notch 1
NOV nephroblastoma overexpressed
NPC1 Niemann-Pick disease, type C1
NR1D2 nuclear receptor subfamily 1, group D, member 2
NRCAM neuronal cell adhesion molecule
NRG1 neuregulin 1
NRTN neurturin
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NUBP1 nucleotide binding protein 1
NXN nucleoredoxin
OAT ornithine aminotransferase
OGN osteoglycin
OTX1 orthodenticle homeobox 1
OTX2 orthodenticle homeobox 2
PARL presenilin associated, rhomboid-like
PATL2 protein associated with topoisomerase II homolog 2 (yeast)
PAX6 paired box 6
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
PDC phosducin
PEX3 peroxisomal biogenesis factor 3
PEX7 peroxisomal biogenesis factor 7
PGF placental growth factor
PHOX2B paired-like homeobox 2b
PIK3C3 phosphatidylinositol 3-kinase, catalytic subunit type 3
PITX2 paired-like homeodomain 2
PITX3 paired-like homeodomain 3
PKNOX1 PBX/knotted 1 homeobox 1
PLG plasminogen
PLTP phospholipid transfer protein
POU2F1 POU class 2 homeobox 1
POU4F2 POU class 4 homeobox 2
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PRDM4 PR domain containing 4
PRDX6 peroxiredoxin 6
PRMT3 protein arginine methyltransferase 3
PROX1 prospero homeobox 1
PRSS56 protease, serine, 56
PSAP prosaposin
PTPN2 protein tyrosine phosphatase, non-receptor type 2
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PVRL3 poliovirus receptor-related 3
PXDN peroxidasin
PYGO2 pygopus family PHD finger 2
RAB23 RAB23, member RAS oncogene family
RAB29 RAB29, member RAS oncogene family
RAB38 RAB38, member RAS oncogene family
RAD23B RAD23 homolog B (S. cerevisiae)
RARB retinoic acid receptor, beta
RAX retina and anterior neural fold homeobox
RB1 retinoblastoma 1
RDH10 retinol dehydrogenase 10 (all-trans)
RGN regucalcin
ROCK2 Rho-associated, coiled-coil containing protein kinase 2
RPE65 retinal pigment epithelium-specific protein 65kDa
RPL24 ribosomal protein L24
RUFY2 RUN and FYVE domain containing 2
RXRA retinoid X receptor, alpha
RYBP RING1 and YY1 binding protein
SEP15 15 kDa selenoprotein
SERF1A small EDRK-rich factor 1A (telomeric)
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SETMAR SET domain and mariner transposase fusion gene
SFRP1 secreted frizzled-related protein 1
SFRP2 secreted frizzled-related protein 2
SFTPC surfactant protein C
SGSH N-sulfoglucosamine sulfohydrolase
SH3PXD2B SH3 and PX domains 2B
SIRT1 sirtuin 1
SIRT6 sirtuin 6
SIX5 SIX homeobox 5
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLC30A4 solute carrier family 30 (zinc transporter), member 4
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC4A11 solute carrier family 4, sodium borate transporter, member 11
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLX4 SLX4 structure-specific endonuclease subunit
SMAD2 SMAD family member 2
SMOC1 SPARC related modular calcium binding 1
SNAI2 snail family zinc finger 2
SNIP1 Smad nuclear interacting protein 1
SOCS1 suppressor of cytokine signaling 1
SORD sorbitol dehydrogenase
SOX1 SRY (sex determining region Y)-box 1
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SPNS2 spinster homolog 2 (Drosophila)
SRC SRC proto-oncogene, non-receptor tyrosine kinase
SREBF2 sterol regulatory element binding transcription factor 2
STAT1 signal transducer and activator of transcription 1, 91kDa
SYNE1 spectrin repeat containing, nuclear envelope 1
TBC1D20 TBC1 domain family, member 20
TBC1D32 TBC1 domain family, member 32
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box)
TDRD7 tudor domain containing 7
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFA transforming growth factor, alpha
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
THBS1 thrombospondin 1
TMC1 transmembrane channel-like 1
TMC8 transmembrane channel-like 8
TOM1L2 target of myb1-like 2 (chicken)
TP63 tumor protein p63
TP73 tumor protein p73
TREX1 three prime repair exonuclease 1
TRIM45 tripartite motif containing 45
TRPC3 transient receptor potential cation channel, subfamily C, member 3
TRPC4AP transient receptor potential cation channel, subfamily C, member 4 associated protein
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
UCP1 uncoupling protein 1 (mitochondrial, proton carrier)
USP42 ubiquitin specific peptidase 42
VAV2 vav 2 guanine nucleotide exchange factor
VEGFB vascular endothelial growth factor B
VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae)
VSX2 visual system homeobox 2
XBP1 X-box binding protein 1
XPA xeroderma pigmentosum, complementation group A
ZEB1 zinc finger E-box binding homeobox 1
ZFP36 ZFP36 ring finger protein
ZIC3 Zic family member 3
ZNF175 zinc finger protein 175
ZNF182 zinc finger protein 182
ZNRF3 zinc and ring finger 3