abnormal electroretinogram Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. (Human Phenotype Ontology, HP_0000512)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000512
Similar Terms
Downloads & Tools

Genes

142 genes associated with the abnormal electroretinogram 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
ACOX1 acyl-CoA oxidase 1, palmitoyl
ADGRV1 adhesion G protein-coupled receptor V1
AGK acylglycerol kinase
AHI1 Abelson helper integration site 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ALG3 ALG3, alpha-1,3- mannosyltransferase
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
BBIP1 BBSome interacting protein 1
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
C2ORF71 chromosome 2 open reading frame 71
C8ORF37 chromosome 8 open reading frame 37
CA4 carbonic anhydrase IV
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
CAPN5 calpain 5
CDH23 cadherin-related 23
CDHR1 cadherin-related family member 1
CEP290 centrosomal protein 290kDa
CERKL ceramide kinase-like
CHM choroideremia (Rab escort protein 1)
CIB2 calcium and integrin binding family member 2
CLN3 ceroid-lipofuscinosis, neuronal 3
CLRN1 clarin 1
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB1 cyclic nucleotide gated channel beta 1
CNGB3 cyclic nucleotide gated channel beta 3
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
DFNB31 deafness, autosomal recessive 31
DHDDS dehydrodolichyl diphosphate synthase
EYS eyes shut homolog (Drosophila)
FAM161A family with sequence similarity 161, member A
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FSCN2 fascin actin-bundling protein 2, retinal
GDF6 growth differentiation factor 6
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
GUCA1A guanylate cyclase activator 1A (retina)
GUCA1B guanylate cyclase activator 1B (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HARS histidyl-tRNA synthetase
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IFT27 intraflagellar transport 27
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
IQCB1 IQ motif containing B1
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
KIZ kizuna centrosomal protein
KLHL7 kelch-like family member 7
LARGE like-glycosyltransferase
LCA5 Leber congenital amaurosis 5
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LZTFL1 leucine zipper transcription factor-like 1
MAK male germ cell-associated kinase
MCOLN1 mucolipin 1
MERTK MER proto-oncogene, tyrosine kinase
MFRP membrane frizzled-related protein
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MT-TS2 tRNA
MYO7A myosin VIIA
NEK2 NIMA-related kinase 2
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOTCH3 notch 3
NPHP1 nephronophthisis 1 (juvenile)
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
OFD1 oral-facial-digital syndrome 1
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
OPN1SW opsin 1 (cone pigments), short-wave-sensitive
PCDH15 protocadherin-related 15
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDZD7 PDZ domain containing 7
PEX1 peroxisomal biogenesis factor 1
PEX12 peroxisomal biogenesis factor 12
PIEZO2 piezo-type mechanosensitive ion channel component 2
PNPLA6 patatin-like phospholipase domain containing 6
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
PPT1 palmitoyl-protein thioesterase 1
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)
RBP3 retinol binding protein 3, interstitial
RD3 retinal degeneration 3
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RGR retinal G protein coupled receptor
RHO rhodopsin
RLBP1 retinaldehyde binding protein 1
RNF216 ring finger protein 216
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
RS1 retinoschisin 1
SAG S-antigen; retina and pineal gland (arrestin)
SDCCAG8 serologically defined colon cancer antigen 8
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC7A14 solute carrier family 7, member 14
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SPATA7 spermatogenesis associated 7
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TPP1 tripeptidyl peptidase I
TRIM32 tripartite motif containing 32
TRPM1 transient receptor potential cation channel, subfamily M, member 1
TTC8 tetratricopeptide repeat domain 8
TUB tubby bipartite transcription factor
TULP1 tubby like protein 1
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VSX1 visual system homeobox 1
WDPCP WD repeat containing planar cell polarity effector
ZNF513 zinc finger protein 513