night blindness Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000662
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Genes

140 genes associated with the night blindness 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
ADGRV1 adhesion G protein-coupled receptor V1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
BEST1 bestrophin 1
C1QTNF5 C1q and tumor necrosis factor related protein 5
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
CDH23 cadherin-related 23
CDHR1 cadherin-related family member 1
CERKL ceramide kinase-like
CHM choroideremia (Rab escort protein 1)
CIB2 calcium and integrin binding family member 2
CLRN1 clarin 1
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB1 cyclic nucleotide gated channel beta 1
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4
COX1
COX2
COX3
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2
DFNB31 deafness, autosomal recessive 31
DHDDS dehydrodolichyl diphosphate synthase
EYS eyes shut homolog (Drosophila)
FAM161A family with sequence similarity 161, member A
FSCN2 fascin actin-bundling protein 2, retinal
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
GPR179 G protein-coupled receptor 179
GRK1 G protein-coupled receptor kinase 1
GRM6 glutamate receptor, metabotropic 6
GUCA1A guanylate cyclase activator 1A (retina)
GUCA1B guanylate cyclase activator 1B (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HARS histidyl-tRNA synthetase
HBB hemoglobin, beta
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IFT172 intraflagellar transport 172
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)
LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3
MAK male germ cell-associated kinase
MERTK MER proto-oncogene, tyrosine kinase
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MVK mevalonate kinase
MYO7A myosin VIIA
ND1
NEK2 NIMA-related kinase 2
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
NYX nyctalopin
OAT ornithine aminotransferase
OFD1 oral-facial-digital syndrome 1
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
PCDH15 protocadherin-related 15
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma
PDZD7 PDZ domain containing 7
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
PHYH phytanoyl-CoA 2-hydroxylase
PITPNM3 PITPNM family member 3
POC1B POC1 centriolar protein B
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)
RDH5 retinol dehydrogenase 5 (11-cis/9-cis)
RGR retinal G protein coupled receptor
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)
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SLC7A14 solute carrier family 7, member 14
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SPATA7 spermatogenesis associated 7
STIM1 stromal interaction molecule 1
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TRPM1 transient receptor potential cation channel, subfamily M, member 1
TTC8 tetratricopeptide repeat domain 8
TTPA tocopherol (alpha) transfer protein
TUB tubby bipartite transcription factor
TULP1 tubby like protein 1
UNC119 unc-119 homolog (C. elegans)
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
ZNF513 zinc finger protein 513