abnormality of refraction Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. (Human Phenotype Ontology, HP_0000539)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000539
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Genes

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

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACSL4 acyl-CoA synthetase long-chain family member 4
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTSL4 ADAMTS-like 4
ADGRV1 adhesion G protein-coupled receptor V1
AGK acylglycerol kinase
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
ANKRD11 ankyrin repeat domain 11
ANTXR1 anthrax toxin receptor 1
ARL6 ADP-ribosylation factor-like 6
ASXL1 additional sex combs like transcriptional regulator 1
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
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
BEST1 bestrophin 1
BFSP2 beaded filament structural protein 2, phakinin
BMP4 bone morphogenetic protein 4
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BTD biotinidase
C12ORF57 chromosome 12 open reading frame 57
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CANT1 calcium activated nucleotidase 1
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CBS cystathionine-beta-synthase
CC2D2A coiled-coil and C2 domain containing 2A
CDH23 cadherin-related 23
CDKL5 cyclin-dependent kinase-like 5
CEP290 centrosomal protein 290kDa
CHM choroideremia (Rab escort protein 1)
CHMP1A charged multivesicular body protein 1A
CHRDL1 chordin-like 1
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CIB2 calcium and integrin binding family member 2
CLDN16 claudin 16
CLDN19 claudin 19
CLIP2 CAP-GLY domain containing linker protein 2
CLRN1 clarin 1
CNGB3 cyclic nucleotide gated channel beta 3
COL11A1 collagen, type XI, alpha 1
COL18A1 collagen, type XVIII, alpha 1
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4 collagen, type IV, alpha 4
COL4A5 collagen, type IV, alpha 5
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, 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
CRYAA crystallin, alpha A
CRYBA2 crystallin, beta A2
CRYBA4 crystallin, beta A4
CRYBB1 crystallin, beta B1
CRYBB2 crystallin, beta B2
CRYGC crystallin, gamma C
CRYGD crystallin, gamma D
CTCF CCCTC-binding factor (zinc finger protein)
DFNB31 deafness, autosomal recessive 31
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
EPHA2 EPH receptor A2
ERBB3 erb-b2 receptor tyrosine kinase 3
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
FAM111A family with sequence similarity 111, member A
FAM58A family with sequence similarity 58, 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
FBN2 fibrillin 2
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF3 fibroblast growth factor 3
FKBP14 FK506 binding protein 14, 22 kDa
FKRP fukutin related protein
FKTN fukutin
FLII flightless I homolog (Drosophila)
FOXL2 forkhead box L2
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GJA1 gap junction protein, alpha 1, 43kDa
GJA8 gap junction protein, alpha 8, 50kDa
GJC2 gap junction protein, gamma 2, 47kDa
GMPPB GDP-mannose pyrophosphorylase B
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GPR143 G protein-coupled receptor 143
GRM6 glutamate receptor, metabotropic 6
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HARS histidyl-tRNA synthetase
HDAC8 histone deacetylase 8
HSPG2 heparan sulfate proteoglycan 2
IFT122 intraflagellar transport 122
IFT27 intraflagellar transport 27
IFT43 intraflagellar transport 43
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IRX5 iroquois homeobox 5
JAG1 jagged 1
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2
KDM5C lysine (K)-specific demethylase 5C
KERA keratocan
KIF11 kinesin family member 11
KLLN killin, p53-regulated DNA replication inhibitor
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMA1 laminin, alpha 1
LAMB2 laminin, beta 2 (laminin S)
LARGE like-glycosyltransferase
LCA5 Leber congenital amaurosis 5
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3
LRP2 low density lipoprotein receptor-related protein 2
LTBP2 latent transforming growth factor beta binding protein 2
LZTFL1 leucine zipper transcription factor-like 1
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MAGEL2 melanoma antigen family L2
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MBD5 methyl-CpG binding domain protein 5
MBTPS2 membrane-bound transcription factor peptidase, site 2
MECP2 methyl CpG binding protein 2
MFRP membrane frizzled-related protein
MIR184 microRNA 184
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MSX2 msh homeobox 2
MT-TS2 tRNA
MYO5A myosin VA (heavy chain 12, myoxin)
MYO7A myosin VIIA
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
NBAS neuroblastoma amplified sequence
NDN necdin, melanoma antigen (MAGE) family member
NIPBL Nipped-B homolog (Drosophila)
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOG noggin
NOTCH2 notch 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NT5C2 5'-nucleotidase, cytosolic II
NYX nyctalopin
OAT ornithine aminotransferase
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
OPTN optineurin
P3H2 prolyl 3-hydroxylase 2
PALB2 partner and localizer of BRCA2
PAX2 paired box 2
PCDH15 protocadherin-related 15
PCNT pericentrin
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDZD7 PDZ domain containing 7
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PRDM5 PR domain containing 5
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAB28 RAB28, member RAS oncogene family
RAB40AL RAB40A, member RAS oncogene family-like
RAD21 RAD21 homolog (S. pombe)
RAD50 RAD50 homolog (S. cerevisiae)
RAD51C RAD51 paralog C
RAI1 retinoic acid induced 1
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RP2 retinitis pigmentosa 2 (X-linked recessive)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
SAT1 spermidine/spermine N1-acetyltransferase 1
SCO2 SCO2 cytochrome c oxidase assembly protein
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SH2B1 SH2B adaptor protein 1
SIM1 single-minded family bHLH transcription factor 1
SKI SKI proto-oncogene
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC39A5 solute carrier family 39 (zinc transporter), member 5
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SLITRK6 SLIT and NTRK-like family, member 6
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
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
SMS spermine synthase
SNRPN small nuclear ribonucleoprotein polypeptide N
SOBP sine oculis binding protein homolog (Drosophila)
SRCAP Snf2-related CREBBP activator protein
SULF1 sulfatase 1
TBC1D24 TBC1 domain family, member 24
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)
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
THOC6 THO complex 6
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TMEM98 transmembrane protein 98
TRAPPC11 trafficking protein particle complex 11
TRIM32 tripartite motif containing 32
TRIM37 tripartite motif containing 37
TRPM1 transient receptor potential cation channel, subfamily M, member 1
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTC8 tetratricopeptide repeat domain 8
TULP1 tubby like protein 1
TYR tyrosinase
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VCAN versican
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VSX1 visual system homeobox 1
WDPCP WD repeat containing planar cell polarity effector
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
ZNF469 zinc finger protein 469
ZNF644 zinc finger protein 644
ZSWIM6 zinc finger, SWIM-type containing 6