abnormality of corneal size Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any abnormality of the size or morphology of the cornea. (Human Phenotype Ontology, HP_0001120)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001120
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Genes

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

Symbol Name
ACTB actin, beta
ACTG1 actin gamma 1
ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18
ANK1 ankyrin 1, erythrocytic
ATOH7 atonal homolog 7 (Drosophila)
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
BCOR BCL6 corepressor
BEST1 bestrophin 1
BMP4 bone morphogenetic protein 4
CC2D2A coiled-coil and C2 domain containing 2A
CEP290 centrosomal protein 290kDa
CHRDL1 chordin-like 1
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLIP2 CAP-GLY domain containing linker protein 2
COL11A1 collagen, type XI, alpha 1
COL4A1 collagen, type IV, alpha 1
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
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
EBP emopamil binding protein (sterol isomerase)
ELN elastin
ERCC6 excision repair cross-complementation group 6
FAM111A family with sequence similarity 111, member A
FANCB Fanconi anemia, complementation group B
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF3 fibroblast growth factor 3
FKRP fukutin related protein
FKTN fukutin
FLII flightless I homolog (Drosophila)
FOXC1 forkhead box C1
FOXL2 forkhead box L2
GJA1 gap junction protein, alpha 1, 43kDa
GJA8 gap junction protein, alpha 8, 50kDa
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GORAB golgin, RAB6-interacting
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HDAC8 histone deacetylase 8
HDAC9 histone deacetylase 9
HMGB3 high mobility group box 3
HMX1 H6 family homeobox 1
HSPG2 heparan sulfate proteoglycan 2
ISPD isoprenoid synthase domain containing
JAG1 jagged 1
KDM6A lysine (K)-specific demethylase 6A
KIF1BP KIF1 binding protein
KMT2D lysine (K)-specific methyltransferase 2D
LARGE like-glycosyltransferase
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIMK1 LIM domain kinase 1
LMX1B LIM homeobox transcription factor 1, beta
LTBP2 latent transforming growth factor beta binding protein 2
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MIR184 microRNA 184
MKS1 Meckel syndrome, type 1
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NELFA negative elongation factor complex member A
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NIPBL Nipped-B homolog (Drosophila)
OTX2 orthodenticle homeobox 2
PAX6 paired box 6
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PITX2 paired-like homeodomain 2
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
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
PRDM5 PR domain containing 5
PRSS56 protease, serine, 56
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)
RAI1 retinoic acid induced 1
RBP4 retinol binding protein 4, plasma
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
SALL4 spalt-like transcription factor 4
SC5D sterol-C5-desaturase
SETBP1 SET binding protein 1
SLC16A12 solute carrier family 16, member 12
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
TBC1D20 TBC1 domain family, member 20
TBL2 transducin (beta)-like 2
TBX15 T-box 15
TBX22 T-box 22
TCTN2 tectonic family member 2
TENM3 teneurin transmembrane protein 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB2 transforming growth factor, beta 2
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
UBE3B ubiquitin protein ligase E3B
WDPCP WD repeat containing planar cell polarity effector
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT3 wingless-type MMTV integration site family, member 3