photophobia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. (Human Phenotype Ontology, HP_0000613)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000613
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Genes

147 genes associated with the photophobia 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
ADAM9 ADAM metallopeptidase domain 9
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
AIRE autoimmune regulator
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALMS1 Alstrom syndrome protein 1
AP3B1 adaptor-related protein complex 3, beta 1 subunit
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
BEST1 bestrophin 1
C10ORF11 chromosome 10 open reading frame 11
C2ORF71 chromosome 2 open reading frame 71
C4A complement component 4A (Rodgers blood group)
C8ORF37 chromosome 8 open reading frame 37
CA4 carbonic anhydrase IV
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4
CDHR1 cadherin-related family member 1
CERKL ceramide kinase-like
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
CLRN1 clarin 1
CNGA1 cyclic nucleotide gated channel alpha 1
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB1 cyclic nucleotide gated channel beta 1
CNGB3 cyclic nucleotide gated channel beta 3
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
CRYGC crystallin, gamma C
CTNS cystinosin, lysosomal cystine transporter
DDB2 damage-specific DNA binding protein 2, 48kDa
DHDDS dehydrodolichyl diphosphate synthase
DRD5 dopamine receptor D5
EDNRA endothelin receptor type A
ERCC2 excision repair cross-complementation group 2
ERCC6 excision repair cross-complementation group 6
EYS eyes shut homolog (Drosophila)
FAM161A family with sequence similarity 161, member A
FOXC2 forkhead box C2
FSCN2 fascin actin-bundling protein 2, retinal
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
GPR143 G protein-coupled receptor 143
GUCA1A guanylate cyclase activator 1A (retina)
GUCA1B guanylate cyclase activator 1B (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HARS histidyl-tRNA synthetase
HLA-B major histocompatibility complex, class I, B
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IL10 interleukin 10
IL12RB2 interleukin 12 receptor, beta 2
IL23R interleukin 23 receptor
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2
KIZ kizuna centrosomal protein
KLHL7 kelch-like family member 7
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LTBP2 latent transforming growth factor beta binding protein 2
LYST lysosomal trafficking regulator
MAK male germ cell-associated kinase
MAPT microtubule-associated protein tau
MBTPS2 membrane-bound transcription factor peptidase, site 2
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MCOLN1 mucolipin 1
MEFV Mediterranean fever
MERTK MER proto-oncogene, tyrosine kinase
MITF microphthalmia-associated transcription factor
NEK2 NIMA-related kinase 2
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
OCA2 oculocutaneous albinism II
OFD1 oral-facial-digital syndrome 1
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
PCNA proliferating cell nuclear antigen
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma
PIKFYVE phosphoinositide kinase, FYVE finger containing
PITPNM3 PITPNM family member 3
PLCD1 phospholipase C, delta 1
PNPLA6 patatin-like phospholipase domain containing 6
POC1B POC1 centriolar protein B
POLH polymerase (DNA directed), eta
PRCD progressive rod-cone degeneration
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)
RAB28 RAB28, member RAS oncogene family
RAX2 retina and anterior neural fold homeobox 2
RBP3 retinol binding protein 3, interstitial
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RGR retinal G protein coupled receptor
RGS9 regulator of G-protein signaling 9
RGS9BP regulator of G protein signaling 9 binding protein
RHO rhodopsin
RIMS1 regulating synaptic membrane exocytosis 1
RLBP1 retinaldehyde binding protein 1
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
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
SAG S-antigen; retina and pineal gland (arrestin)
SAT1 spermidine/spermine N1-acetyltransferase 1
SCN1A sodium channel, voltage gated, type I alpha subunit
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC45A2 solute carrier family 45, member 2
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLC7A14 solute carrier family 7, member 14
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SPATA7 spermatogenesis associated 7
ST14 suppression of tumorigenicity 14 (colon carcinoma)
STAT4 signal transducer and activator of transcription 4
TACSTD2 tumor-associated calcium signal transducer 2
TAT tyrosine aminotransferase
TGFBI transforming growth factor, beta-induced, 68kDa
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TP63 tumor protein p63
TTC8 tetratricopeptide repeat domain 8
TUB tubby bipartite transcription factor
TULP1 tubby like protein 1
TYR tyrosinase
UNC119 unc-119 homolog (C. elegans)
USH2A Usher syndrome 2A (autosomal recessive, mild)
WNT10A wingless-type MMTV integration site family, member 10A
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
ZNF513 zinc finger protein 513