abnormality of the cornea Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber. (Human Phenotype Ontology, HP_0000481)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000481
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Genes

410 genes associated with the abnormality of the cornea phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ACTB actin, beta
ACTG1 actin gamma 1
ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18
ADAMTSL4 ADAMTS-like 4
AGK acylglycerol kinase
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
AIRE autoimmune regulator
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALOX12B arachidonate 12-lipoxygenase, 12R type
ALOXE3 arachidonate lipoxygenase 3
ANK1 ankyrin 1, erythrocytic
ANKRD11 ankyrin repeat domain 11
ANTXR1 anthrax toxin receptor 1
APOA1 apolipoprotein A-I
APOB apolipoprotein B
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
ARSB arylsulfatase B
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATOH7 atonal homolog 7 (Drosophila)
ATP7B ATPase, Cu++ transporting, beta polypeptide
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALTL beta 1,3-galactosyltransferase-like
B3GNT1
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BCOR BCL6 corepressor
BEST1 bestrophin 1
BMP4 bone morphogenetic protein 4
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C2ORF71 chromosome 2 open reading frame 71
C4A complement component 4A (Rodgers blood group)
C8ORF37 chromosome 8 open reading frame 37
CA4 carbonic anhydrase IV
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CC2D2A coiled-coil and C2 domain containing 2A
CDHR1 cadherin-related family member 1
CEP290 centrosomal protein 290kDa
CEP57 centrosomal protein 57kDa
CERKL ceramide kinase-like
CERS3 ceramide synthase 3
CHMP1A charged multivesicular body protein 1A
CHRDL1 chordin-like 1
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
CLDN16 claudin 16
CLIP2 CAP-GLY domain containing linker protein 2
CLRN1 clarin 1
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB1 cyclic nucleotide gated channel beta 1
COL11A1 collagen, type XI, alpha 1
COL18A1 collagen, type XVIII, alpha 1
COL3A1 collagen, type III, alpha 1
COL4A1 collagen, type IV, alpha 1
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4 collagen, type IV, alpha 4
COL4A5 collagen, type IV, alpha 5
COL7A1 collagen, type VII, alpha 1
COL8A2 collagen, type VIII, alpha 2
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COX7B cytochrome c oxidase subunit VIIb
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CREBBP CREB binding protein
CRX cone-rod homeobox
CRYAA crystallin, alpha A
CRYBA4 crystallin, beta A4
CRYBB1 crystallin, beta B1
CRYBB2 crystallin, beta B2
CRYGC crystallin, gamma C
CRYGD crystallin, gamma D
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTNS cystinosin, lysosomal cystine transporter
CTSA cathepsin A
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2
DCN decorin
DDB2 damage-specific DNA binding protein 2, 48kDa
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
DNAI1 dynein, axonemal, intermediate chain 1
DRD5 dopamine receptor D5
DST dystonin
EBP emopamil binding protein (sterol isomerase)
ELN elastin
ELP4 elongator acetyltransferase complex subunit 4
EPHX2 epoxide hydrolase 2, cytoplasmic
ERCC2 excision repair cross-complementation group 2
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EYS eyes shut homolog (Drosophila)
FAM111A family with sequence similarity 111, member A
FAM161A family with sequence similarity 161, member A
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FBN1 fibrillin 1
FERMT1 fermitin family member 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF10 fibroblast growth factor 10
FGF3 fibroblast growth factor 3
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FKTN fukutin
FLII flightless I homolog (Drosophila)
FLNB filamin B, beta
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXE3 forkhead box E3
FOXL2 forkhead box L2
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FSCN2 fascin actin-bundling protein 2, retinal
FUCA1 fucosidase, alpha-L- 1, tissue
GALNS galactosamine (N-acetyl)-6-sulfatase
GBA glucosidase, beta, acid
GDF6 growth differentiation factor 6
GJA1 gap junction protein, alpha 1, 43kDa
GJA8 gap junction protein, alpha 8, 50kDa
GJB2 gap junction protein, beta 2, 26kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GJB6 gap junction protein, beta 6, 30kDa
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GORAB golgin, RAB6-interacting
GPR143 G protein-coupled receptor 143
GRIP1 glutamate receptor interacting protein 1
GSN gelsolin
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCA1B guanylate cyclase activator 1B (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
GUSB glucuronidase, beta
HARS histidyl-tRNA synthetase
HCCS holocytochrome c synthase
HDAC8 histone deacetylase 8
HDAC9 histone deacetylase 9
HLA-B major histocompatibility complex, class I, B
HMGB3 high mobility group box 3
HMX1 H6 family homeobox 1
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IDUA iduronidase, alpha-L-
IFT27 intraflagellar transport 27
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL12RB2 interleukin 12 receptor, beta 2
IL23R interleukin 23 receptor
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
IQCB1 IQ motif containing B1
ISPD isoprenoid synthase domain containing
JAG1 jagged 1
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2
KDM6A lysine (K)-specific demethylase 6A
KERA keratocan
KIF1BP KIF1 binding protein
KIZ kizuna centrosomal protein
KLHL7 kelch-like family member 7
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT12 keratin 12, type I
KRT16 keratin 16, type I
KRT17 keratin 17, type I
KRT3 keratin 3, type II
KRT6A keratin 6A, type II
KRT6B keratin 6B, type II
LAMA3 laminin, alpha 3
LARGE like-glycosyltransferase
LBR lamin B receptor
LCA5 Leber congenital amaurosis 5
LCAT lecithin-cholesterol acyltransferase
LDLR low density lipoprotein receptor
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIFR leukemia inhibitory factor receptor alpha
LIMK1 LIM domain kinase 1
LMX1B LIM homeobox transcription factor 1, beta
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LTBP2 latent transforming growth factor beta binding protein 2
LZTFL1 leucine zipper transcription factor-like 1
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MAK male germ cell-associated kinase
MBD5 methyl-CpG binding domain protein 5
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCOLN1 mucolipin 1
MEFV Mediterranean fever
MERTK MER proto-oncogene, tyrosine kinase
MIR184 microRNA 184
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MMP1 matrix metallopeptidase 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MPV17 MpV17 mitochondrial inner membrane protein
MT-TS2 tRNA
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGA N-acetylgalactosaminidase, alpha-
NDP Norrie disease (pseudoglioma)
NEK2 NIMA-related kinase 2
NELFA negative elongation factor complex member A
NEU1 sialidase 1 (lysosomal sialidase)
NF2 neurofibromin 2 (merlin)
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NIPAL4 NIPA-like domain containing 4
NIPBL Nipped-B homolog (Drosophila)
NLRP1 NLR family, pyrin domain containing 1
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OCLN occludin
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
OSMR oncostatin M receptor
OTX2 orthodenticle homeobox 2
PALB2 partner and localizer of BRCA2
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
PAX6 paired box 6
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PIKFYVE phosphoinositide kinase, FYVE finger containing
PITX2 paired-like homeodomain 2
PITX3 paired-like homeodomain 3
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PLEC plectin
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PNPLA1 patatin-like phospholipase domain containing 1
POLH polymerase (DNA directed), eta
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PORCN porcupine homolog (Drosophila)
PRCD progressive rod-cone degeneration
PRDM5 PR domain containing 5
PROM1 prominin 1
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF4 pre-mRNA processing factor 4
PRPF6 pre-mRNA processing factor 6
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
PRSS56 protease, serine, 56
PTEN phosphatase and tensin homolog
PXDN peroxidasin
PYCR1 pyrroline-5-carboxylate reductase 1
RAB18 RAB18, member RAS oncogene family
RAB23 RAB23, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RAI1 retinoic acid induced 1
RAX retina and anterior neural fold homeobox
RBP3 retinol binding protein 3, interstitial
RBP4 retinol binding protein 4, plasma
RD3 retinal degeneration 3
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
RGR retinal G protein coupled receptor
RHO rhodopsin
RIPK4 receptor-interacting serine-threonine kinase 4
RLBP1 retinaldehyde binding protein 1
ROM1 retinal outer segment membrane protein 1
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP2 retinitis pigmentosa 2 (X-linked recessive)
RP9 retinitis pigmentosa 9 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
SAG S-antigen; retina and pineal gland (arrestin)
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SAT1 spermidine/spermine N1-acetyltransferase 1
SC5D sterol-C5-desaturase
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SETBP1 SET binding protein 1
SLC16A12 solute carrier family 16, member 12
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC38A8 solute carrier family 38, member 8
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC4A11 solute carrier family 4, sodium borate transporter, member 11
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC7A14 solute carrier family 7, member 14
SLX4 SLX4 structure-specific endonuclease subunit
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SOX2 SRY (sex determining region Y)-box 2
SPATA7 spermatogenesis associated 7
SPINT2 serine peptidase inhibitor, Kunitz type, 2
ST14 suppression of tumorigenicity 14 (colon carcinoma)
STAT4 signal transducer and activator of transcription 4
STS steroid sulfatase (microsomal), isozyme S
SUMF1 sulfatase modifying factor 1
TACSTD2 tumor-associated calcium signal transducer 2
TAT tyrosine aminotransferase
TBC1D20 TBC1 domain family, member 20
TBC1D7 TBC1 domain family, member 7
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX15 T-box 15
TBX22 T-box 22
TCF4 transcription factor 4
TCTN2 tectonic family member 2
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor)
TENM3 teneurin transmembrane protein 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB2 transforming growth factor, beta 2
TGFBI transforming growth factor, beta-induced, 68kDa
TGM1 transglutaminase 1
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TLR4 toll-like receptor 4
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
TNXB tenascin XB
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TP63 tumor protein p63
TRAPPC2 trafficking protein particle complex 2
TRIM32 tripartite motif containing 32
TRIM37 tripartite motif containing 37
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TTC8 tetratricopeptide repeat domain 8
TUB tubby bipartite transcription factor
TULP1 tubby like protein 1
TYR tyrosinase
UBE3B ubiquitin protein ligase E3B
UBIAD1 UbiA prenyltransferase domain containing 1
UROS uroporphyrinogen III synthase
USH2A Usher syndrome 2A (autosomal recessive, mild)
VSX1 visual system homeobox 1
WDPCP WD repeat containing planar cell polarity effector
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT3 wingless-type MMTV integration site family, member 3
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
YAP1 Yes-associated protein 1
ZEB1 zinc finger E-box binding homeobox 1
ZNF469 zinc finger protein 469
ZNF513 zinc finger protein 513