abnormal cornea morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure (Mammalian Phenotype Ontology, MP_0001312)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001312
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Genes

151 gene mutations causing the abnormal cornea morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADAM17 ADAM metallopeptidase domain 17
AHCYL1 adenosylhomocysteinase-like 1
AIRE autoimmune regulator
APOE apolipoprotein E
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ARSB arylsulfatase B
BMP4 bone morphogenetic protein 4
BNC1 basonuclin 1
C1ORF198 chromosome 1 open reading frame 198
CAMP cathelicidin antimicrobial peptide
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CDC14B cell division cycle 14B
CENPJ centromere protein J
CEP41 centrosomal protein 41kDa
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
CHUK conserved helix-loop-helix ubiquitous kinase
CISD2 CDGSH iron sulfur domain 2
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
COL5A2 collagen, type V, alpha 2
COL8A1 collagen, type VIII, alpha 1
COL8A2 collagen, type VIII, alpha 2
CRYAB crystallin, alpha B
CRYBA2 crystallin, beta A2
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
DKK2 dickkopf WNT signaling pathway inhibitor 2
DPT dermatopontin
DSC1 desmocollin 1
DSG1 desmoglein 1
DSTN destrin (actin depolymerizing factor)
DYNLL1 dynein, light chain, LC8-type 1
EDA ectodysplasin A
EDARADD EDAR-associated death domain
EGFR epidermal growth factor receptor
EGR1 early growth response 1
EHD1 EH-domain containing 1
ELK4 ELK4, ETS-domain protein (SRF accessory protein 1)
ERCC2 excision repair cross-complementation group 2
FAM134C family with sequence similarity 134, member C
FBXO47 F-box protein 47
FGF10 fibroblast growth factor 10
FH fumarate hydratase
FIGN fidgetin
FKRP fukutin related protein
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
FREM1 FRAS1 related extracellular matrix 1
GALNS galactosamine (N-acetyl)-6-sulfatase
GAS1 growth arrest-specific 1
GJA1 gap junction protein, alpha 1, 43kDa
GJE1 gap junction protein, epsilon 1, 23kDa
GRIP1 glutamate receptor interacting protein 1
GSK3A glycogen synthase kinase 3 alpha
HHAT hedgehog acyltransferase
IFNAR1 interferon (alpha, beta and omega) receptor 1
IFNG interferon, gamma
INHBB inhibin, beta B
ITGB4 integrin, beta 4
JAG1 jagged 1
KERA keratocan
KLHDC2 kelch domain containing 2
KLHL20 kelch-like family member 20
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
LIMK2 LIM domain kinase 2
LMX1B LIM homeobox transcription factor 1, beta
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
LUM lumican
MAB21L1 mab-21-like 1 (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
MCPH1 microcephalin 1
MSX2 msh homeobox 2
MUC5AC mucin 5AC, oligomeric mucus/gel-forming
MYH9 myosin, heavy chain 9, non-muscle
MYO10 myosin X
MYSM1 Myb-like, SWIRM and MPN domains 1
NKIRAS2 NFKB inhibitor interacting Ras-like 2
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOTCH1 notch 1
NPC1 Niemann-Pick disease, type C1
NRTN neurturin
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OGN osteoglycin
OTX1 orthodenticle homeobox 1
OTX2 orthodenticle homeobox 2
PARL presenilin associated, rhomboid-like
PAX6 paired box 6
PEX3 peroxisomal biogenesis factor 3
PGF placental growth factor
PITX2 paired-like homeodomain 2
PITX3 paired-like homeodomain 3
PLG plasminogen
PLTP phospholipid transfer protein
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PRDM4 PR domain containing 4
PRDX6 peroxiredoxin 6
PRMT3 protein arginine methyltransferase 3
PSAP prosaposin
PTPN2 protein tyrosine phosphatase, non-receptor type 2
PXDN peroxidasin
PYGO2 pygopus family PHD finger 2
RAB29 RAB29, member RAS oncogene family
RDH10 retinol dehydrogenase 10 (all-trans)
RXRA retinoid X receptor, alpha
SERF1A small EDRK-rich factor 1A (telomeric)
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SFRP2 secreted frizzled-related protein 2
SGSH N-sulfoglucosamine sulfohydrolase
SH3PXD2B SH3 and PX domains 2B
SIRT1 sirtuin 1
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
SOCS1 suppressor of cytokine signaling 1
SPNS2 spinster homolog 2 (Drosophila)
STAT1 signal transducer and activator of transcription 1, 91kDa
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box)
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFA transforming growth factor, alpha
TGFB2 transforming growth factor, beta 2
THBS1 thrombospondin 1
TMC8 transmembrane channel-like 8
TOM1L2 target of myb1-like 2 (chicken)
TP63 tumor protein p63
TREX1 three prime repair exonuclease 1
TRPC3 transient receptor potential cation channel, subfamily C, member 3
TRPC4AP transient receptor potential cation channel, subfamily C, member 4 associated protein
UCP1 uncoupling protein 1 (mitochondrial, proton carrier)
VEGFB vascular endothelial growth factor B
XBP1 X-box binding protein 1
XPA xeroderma pigmentosum, complementation group A
ZEB1 zinc finger E-box binding homeobox 1
ZNF175 zinc finger protein 175