Severe Myopia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A severe form of myopia with greater than -6.00 diopters. (Human Phenotype Ontology, HP_0011003)
External Link https://www.disgenet.org/browser/0/1/0/C0271183
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Genes

171 genes associated with the disease Severe Myopia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
ACD adrenocortical dysplasia homolog (mouse)
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide
ADORA2A adenosine A2a receptor
AMD1 adenosylmethionine decarboxylase 1
AMIGO2 adhesion molecule with Ig-like domain 2
ARR3 arrestin 3, retinal (X-arrestin)
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
ATP6V1E1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1
BBS1 Bardet-Biedl syndrome 1
BBS12 Bardet-Biedl syndrome 12
BCOR BCL6 corepressor
BICC1 BicC family RNA binding protein 1
BLID BH3-like motif containing, cell death inducer
BMP2 bone morphogenetic protein 2
BMP2K BMP2 inducible kinase
BPTF bromodomain PHD finger transcription factor
C1QTNF9B C1q and tumor necrosis factor related protein 9B
C8ORF37 chromosome 8 open reading frame 37
CABP4 calcium binding protein 4
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4
CCDC102B coiled-coil domain containing 102B
CCN2 cellular communication network factor 2
CHRM1 cholinergic receptor, muscarinic 1
CLDN19 claudin 19
CMSS1 cms1 ribosomal small subunit homolog (yeast)
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
COL8A1 collagen, type VIII, alpha 1
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
CPSF1 cleavage and polyadenylation specific factor 1, 160kDa
CREBZF CREB/ATF bZIP transcription factor
CRIPT cysteine-rich PDZ-binding protein
CRYAB crystallin, alpha B
CRYBA4 crystallin, beta A4
CTNND2 catenin (cadherin-associated protein), delta 2
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
DCN decorin
EFL1 elongation factor like GTPase 1
EGR1 early growth response 1
EPYC epiphycan
ERBB3 erb-b2 receptor tyrosine kinase 3
ESR1 estrogen receptor 1
FBN1 fibrillin 1
FGF10 fibroblast growth factor 10
FGF2 fibroblast growth factor 2 (basic)
FMOD fibromodulin
FOS FBJ murine osteosarcoma viral oncogene homolog
GGCT gamma-glutamylcyclotransferase
GJD2 gap junction protein, delta 2, 36kDa
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GPR179 G protein-coupled receptor 179
GRK1 G protein-coupled receptor kinase 1
GRM6 glutamate receptor, metabotropic 6
GRM8 glutamate receptor, metabotropic 8
GZF1 GDNF-inducible zinc finger protein 1
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HS6ST2 heparan sulfate 6-O-sulfotransferase 2
HSD17B6 hydroxysteroid (17-beta) dehydrogenase 6
HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IGFBP1 insulin-like growth factor binding protein 1
IGFBP3 insulin-like growth factor binding protein 3
IGFBP4 insulin-like growth factor binding protein 4
IL10 interleukin 10
INS-IGF2 INS-IGF2 readthrough
INSR insulin receptor
IRS1 insulin receptor substrate 1
IRX5 iroquois homeobox 5
JUN jun proto-oncogene
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KCNQ5 potassium channel, voltage gated KQT-like subfamily Q, member 5
KERA keratocan
LAMA1 laminin, alpha 1
LAMA2 laminin, alpha 2
LOXL3 lysyl oxidase-like 3
LPIN2 lipin 2
LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3
LRP2 low density lipoprotein receptor-related protein 2
LRPAP1 low density lipoprotein receptor-related protein associated protein 1
LTBP2 latent transforming growth factor beta binding protein 2
LUM lumican
MET MET proto-oncogene, receptor tyrosine kinase
MFRP membrane frizzled-related protein
MIPEP mitochondrial intermediate peptidase
MMP1 matrix metallopeptidase 1
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MYCBP2 MYC binding protein 2, E3 ubiquitin protein ligase
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
NDP Norrie disease (pseudoglioma)
NYX nyctalopin
OPA1 optic atrophy 1 (autosomal dominant)
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
OPTC opticin
P3H2 prolyl 3-hydroxylase 2
P4HA2 prolyl 4-hydroxylase, alpha polypeptide II
PAX6 paired box 6
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PLK3 polo-like kinase 3
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLXNA2 plexin A2
PRDM5 PR domain containing 5
PRELP proline/arginine-rich end leucine-rich repeat protein
PRIMPOL primase and polymerase (DNA-directed)
PROM1 prominin 1
PTPRR protein tyrosine phosphatase, receptor type, R
RAB28 RAB28, member RAS oncogene family
RAB8A RAB8A, member RAS oncogene family
RARB retinoic acid receptor, beta
RASGRF1 Ras protein-specific guanine nucleotide-releasing factor 1
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1
RBP3 retinol binding protein 3, interstitial
RDH8 retinol dehydrogenase 8 (all-trans)
RHO rhodopsin
RIN2 Ras and Rab interactor 2
RPE ribulose-5-phosphate-3-epimerase
RPGR retinitis pigmentosa GTPase regulator
RPL41 ribosomal protein L41
RPS26 ribosomal protein S26
RRH retinal pigment epithelium-derived rhodopsin homolog
RSPO1 R-spondin 1
SAG S-antigen; retina and pineal gland (arrestin)
SCO2 SCO2 cytochrome c oxidase assembly protein
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SETD1A SET domain containing 1A
SHISA6 shisa family member 6
SLC19A1 solute carrier family 19 (folate transporter), member 1
SLC24A1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
SLC39A5 solute carrier family 39 (zinc transporter), member 5
SLITRK6 SLIT and NTRK-like family, member 6
SMS spermine synthase
SNTB1 syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)
SYNGAP1 synaptic Ras GTPase activating protein 1
TBC1D24 TBC1 domain family, member 24
TEX28 testis expressed 28
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGIF1 TGFB-induced factor homeobox 1
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP2 TIMP metallopeptidase inhibitor 2
TIMP3 TIMP metallopeptidase inhibitor 3
TMTC3 transmembrane and tetratricopeptide repeat containing 3
TNKS tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase
TRPM1 transient receptor potential cation channel, subfamily M, member 1
TTC8 tetratricopeptide repeat domain 8
TTR transthyretin
UHRF1BP1L UHRF1 binding protein 1-like
UMODL1 uromodulin-like 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VIP vasoactive intestinal peptide
VIPR2 vasoactive intestinal peptide receptor 2
ZC3H11B zinc finger CCCH-type containing 11B pseudogene
ZDHHC24 zinc finger, DHHC-type containing 24
ZEB2 zinc finger E-box binding homeobox 2
ZNF469 zinc finger protein 469
ZNF644 zinc finger protein 644
ZNRF3 zinc and ring finger 3