abnormality of the curvature of the cornea Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100691
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Genes

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

Symbol Name
ADAMTSL4 ADAMTS-like 4
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ANKRD11 ankyrin repeat domain 11
ANTXR1 anthrax toxin receptor 1
ARL6 ADP-ribosylation factor-like 6
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
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CC2D2A coiled-coil and C2 domain containing 2A
CEP290 centrosomal protein 290kDa
CHMP1A charged multivesicular body protein 1A
CHRDL1 chordin-like 1
CLDN16 claudin 16
CLIP2 CAP-GLY domain containing linker protein 2
CLRN1 clarin 1
COL11A1 collagen, type XI, alpha 1
COL3A1 collagen, type III, alpha 1
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
ELN elastin
ERCC4 excision repair cross-complementation group 4
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
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPR143 G protein-coupled receptor 143
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HARS histidyl-tRNA synthetase
IFT27 intraflagellar transport 27
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2
KERA keratocan
LIMK1 LIM domain kinase 1
LMX1B LIM homeobox transcription factor 1, beta
LZTFL1 leucine zipper transcription factor-like 1
MBD5 methyl-CpG binding domain protein 5
MBTPS2 membrane-bound transcription factor peptidase, site 2
MIR184 microRNA 184
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MT-TS2 tRNA
NIPBL Nipped-B homolog (Drosophila)
PALB2 partner and localizer of BRCA2
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PIEZO2 piezo-type mechanosensitive ion channel component 2
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PRDM5 PR domain containing 5
RAD51C RAD51 paralog C
RFC2 replication factor C (activator 1) 2, 40kDa
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLX4 SLX4 structure-specific endonuclease subunit
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
TBC1D7 TBC1 domain family, member 7
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TCF4 transcription factor 4
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor)
TRIM32 tripartite motif containing 32
TRIM37 tripartite motif containing 37
TTC8 tetratricopeptide repeat domain 8
TYR tyrosinase
UBE3B ubiquitin protein ligase E3B
VSX1 visual system homeobox 1
WDPCP WD repeat containing planar cell polarity effector
ZNF469 zinc finger protein 469