glaucoma Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000501
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Genes

230 genes associated with the glaucoma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ACVR1 activin A receptor, type I
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17
ADAMTSL4 ADAMTS-like 4
AGK acylglycerol kinase
AKT1 v-akt murine thymoma viral oncogene homolog 1
ANTXR1 anthrax toxin receptor 1
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
ARSB arylsulfatase B
ATOH7 atonal homolog 7 (Drosophila)
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
B3GNT1
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
BDNF brain-derived neurotrophic factor
BEST1 bestrophin 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
C8ORF37 chromosome 8 open reading frame 37
CA4 carbonic anhydrase IV
CANT1 calcium activated nucleotidase 1
CBS cystathionine-beta-synthase
CCBE1 collagen and calcium binding EGF domains 1
CCDC22 coiled-coil domain containing 22
CDHR1 cadherin-related family member 1
CENPJ centromere protein J
CEP152 centrosomal protein 152kDa
CEP290 centrosomal protein 290kDa
CEP57 centrosomal protein 57kDa
CERKL ceramide kinase-like
CHD7 chromodomain helicase DNA binding protein 7
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CISD2 CDGSH iron sulfur domain 2
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
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL4A1 collagen, type IV, alpha 1
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
CRYBA2 crystallin, beta A2
CRYBB3 crystallin, beta B3
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
DCN decorin
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
EBP emopamil binding protein (sterol isomerase)
ELN elastin
ELP4 elongator acetyltransferase complex subunit 4
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EYS eyes shut homolog (Drosophila)
FAM161A family with sequence similarity 161, member A
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FGFR2 fibroblast growth factor receptor 2
FKRP fukutin related protein
FKTN fukutin
FOXC1 forkhead box C1
FSCN2 fascin actin-bundling protein 2, retinal
GJA1 gap junction protein, alpha 1, 43kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GLIS3 GLIS family zinc finger 3
GMPPB GDP-mannose pyrophosphorylase B
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCA1B guanylate cyclase activator 1B (retina)
HCCS holocytochrome c synthase
HDAC8 histone deacetylase 8
HMX1 H6 family homeobox 1
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IDUA iduronidase, alpha-L-
IFT27 intraflagellar transport 27
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
ISPD isoprenoid synthase domain containing
KIAA0196 KIAA0196
KIF11 kinesin family member 11
KIZ kizuna centrosomal protein
KLHL7 kelch-like family member 7
LARGE like-glycosyltransferase
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
MAK male germ cell-associated kinase
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MERTK MER proto-oncogene, tyrosine kinase
MFRP membrane frizzled-related protein
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NDP Norrie disease (pseudoglioma)
NEK2 NIMA-related kinase 2
NF1 neurofibromin 1
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NIPBL Nipped-B homolog (Drosophila)
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
NTF4 neurotrophin 4
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OPTN optineurin
PAX6 paired box 6
PCNT pericentrin
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
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
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
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)
PTCH1 patched 1
PTCH2 patched 2
PTEN phosphatase and tensin homolog
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PUS1 pseudouridylate synthase 1
PXDN peroxidasin
PYCR1 pyrroline-5-carboxylate reductase 1
RAD21 RAD21 homolog (S. pombe)
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RBBP8 retinoblastoma binding protein 8
RBP3 retinol binding protein 3, interstitial
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
RLBP1 retinaldehyde binding protein 1
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
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
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RS1 retinoschisin 1
SAG S-antigen; retina and pineal gland (arrestin)
SBF2 SET binding factor 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SH3PXD2B SH3 and PX domains 2B
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC7A14 solute carrier family 7, member 14
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SPATA7 spermatogenesis associated 7
SUFU suppressor of fused homolog (Drosophila)
TBC1D20 TBC1 domain family, member 20
TBL2 transducin (beta)-like 2
TGFB1 transforming growth factor, beta 1
TMEM5 transmembrane protein 5
TMEM98 transmembrane protein 98
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TREX1 three prime repair exonuclease 1
TRIM32 tripartite motif containing 32
TTC8 tetratricopeptide repeat domain 8
TUB tubby bipartite transcription factor
TULP1 tubby like protein 1
TWIST1 twist family bHLH transcription factor 1
USH2A Usher syndrome 2A (autosomal recessive, mild)
VCAN versican
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VSX1 visual system homeobox 1
WDPCP WD repeat containing planar cell polarity effector
WDR36 WD repeat domain 36
WFS1 Wolfram syndrome 1 (wolframin)
WT1 Wilms tumor 1
XYLT1 xylosyltransferase I
YAP1 Yes-associated protein 1
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
ZNF469 zinc finger protein 469
ZNF513 zinc finger protein 513
ZSWIM6 zinc finger, SWIM-type containing 6