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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:night blindness
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Accession:DOID:8499 term browser browse the term
Definition:A retinal disease that is characterized by difficulty or the inability to see in relatively low light. (DO)
Synonyms:exact_synonym: nyctalopia
 primary_id: MESH:D009755
 xref: ICD10CM:H53.6;   ICD9CM:368.6;   NCI:C34850;   NCI:C37997
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
night blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:25741868, PMID:28118664, PMID:28446513, PMID:29971439, PMID:30311386 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:30311386 NCBI chr  X:15,712,709...15,741,135
Ensembl chr  X:15,712,713...15,741,103
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Nyctalopia ClinVar PMID:20683928, PMID:25741868, PMID:28492532 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:30311386 NCBI chr 1:233,185,815...233,214,876
Ensembl chr 1:233,186,989...233,214,758
JBrowse link
G Chm CHM Rab escort protein ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:25741868 NCBI chr  X:84,666,900...84,821,775
Ensembl chr  X:84,666,900...84,821,775
JBrowse link
G Ctnna1 catenin alpha 1 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:28041643, PMID:28492532, PMID:30311386 NCBI chr18:27,923,229...28,055,972
Ensembl chr18:27,923,572...28,055,960
JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO RGD PMID:8673138 RGD:1599006 NCBI chr 8:116,433,302...116,438,038
Ensembl chr 8:116,433,302...116,438,038
JBrowse link
G Grk1 G protein-coupled receptor kinase 1 ISO DNA:deletions, missense mutation, frameshift mutation RGD PMID:9020843 RGD:1600000 NCBI chr16:81,153,489...81,165,442
Ensembl chr16:81,153,489...81,165,442
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Nyctalopia ClinVar PMID:30311386 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
JBrowse link
G Nrl neural retina leucine zipper ISO CTD Direct Evidence: marker/mechanism CTD PMID:12796249, PMID:15591106 NCBI chr15:34,197,115...34,201,408
Ensembl chr15:34,197,193...34,198,921
JBrowse link
G Nyx nyctalopin susceptibility ISO Congenital stationary night blindness type1A, OMIM:310500;DNA:mutations RGD PMID:11062471 RGD:1601021 NCBI chr  X:10,197,547...10,218,583
Ensembl chr  X:10,197,547...10,218,583
JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:11487575, PMID:22981120, PMID:30311386 NCBI chr20:14,952,213...15,334,745
Ensembl chr20:14,952,213...15,334,745
JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:7724547, PMID:28041643, PMID:30311386 NCBI chr14:2,328,690...2,371,913
Ensembl chr14:2,328,750...2,371,883
JBrowse link
G Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:22901948, PMID:27472364, PMID:30311386 NCBI chr 4:170,947,723...170,963,046
Ensembl chr 4:170,958,196...170,963,046
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Nyctalopia ClinVar PMID:30311386 NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954
JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO fundus albipunctatus (congenital night-blindness disorder), OMIM:601617
ClinVar Annotator: match by term: Night-blindness
ClinVar PMID:30311386, PMID:30718709, PMID:10617778 RGD:1599416 NCBI chr 7:3,335,681...3,342,573
Ensembl chr 7:3,335,742...3,342,491
JBrowse link
G Rho rhodopsin ISO CSNBAD1,OMIM:610445;DNA:point mutation:exon:A292E
ClinVar Annotator: match by term: Night-blindness
ClinVar PMID:1862076, PMID:2215617, PMID:20555336, PMID:25221422, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, PMID:8358437 RGD:1601620 NCBI chr 4:147,832,136...147,837,298
Ensembl chr 4:147,832,136...147,837,298
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO Fundus albipunctatus, OMIM:180090 RGD PMID:11453974 RGD:1599620 NCBI chr 1:141,097,789...141,111,375
Ensembl chr 1:141,097,695...141,111,400
JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:10937588, PMID:20669900, PMID:23150612, PMID:24940031, PMID:28209709, PMID:28492532, PMID:30311386 NCBI chr  X:2,066,298...2,116,661
Ensembl chr  X:2,064,486...2,116,656
JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:9326941, PMID:9501220, PMID:18632300, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Nyctalopia ClinVar PMID:30311386 NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
JBrowse link
G Ttc8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:16308660, PMID:21044901, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 6:122,920,308...122,974,525
Ensembl chr 6:122,920,317...122,974,522
JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:28492532, PMID:30311386 NCBI chr 6:109,693,915...109,910,479
Ensembl chr 6:109,710,781...109,879,607
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Nyctalopia
ClinVar Annotator: match by term: Night-blindness
ClinVar PMID:10729113, PMID:10775529, PMID:11311042, PMID:12525556, PMID:15015129, PMID:15325563, PMID:16963483, PMID:17296898, PMID:18273898, PMID:18463160, PMID:18641288, PMID:18665195, PMID:19683999, PMID:19881469, PMID:20145675, PMID:21174530, PMID:21234346, PMID:21569298, PMID:22135276, PMID:22495311, PMID:23352160, PMID:24033266, PMID:24160897, PMID:24944099, PMID:25262649, PMID:25333064, PMID:25575603, PMID:25649381, PMID:25741868, PMID:26927203, PMID:27460420, PMID:28041643, PMID:28492532, PMID:29293505, PMID:30311386, PMID:30718709 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
JBrowse link
congenital stationary night blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:12515255, PMID:28041643 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive ClinVar PMID:28492532 NCBI chr 1:219,383,452...219,388,009
Ensembl chr 1:219,383,452...219,388,009
JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO
IAGP
ClinVar Annotator: match by term: Congenital stationary night blindness
DNA:mutation:cds: c.2941C>T (rat)
ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9662399, PMID:9662400, PMID:25307992, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709, PMID:30825406, PMID:12111638, PMID:18246026 RGD:734671, RGD:13782370 NCBI chr  X:15,712,709...15,741,135
Ensembl chr  X:15,712,713...15,741,103
JBrowse link
G Cacna1f csnb calcium voltage-gated channel subunit alpha1 F; congenital stationary night blindness mutant IAGP DNA:mutation:cds: c.2941C>T (rat) RGD PMID:18246026 RGD:13782370
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive ClinVar NCBI chr 8:70,293,355...70,406,675
Ensembl chr 8:70,317,586...70,406,751
JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 8:116,433,302...116,438,038
Ensembl chr 8:116,433,302...116,438,038
JBrowse link
G Gnb3 G protein subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
ClinVar Annotator: match by term: Congenital stationary night blindness
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22325361, PMID:22325362, PMID:24033266, PMID:28041643 NCBI chr10:85,273,839...85,289,886
Ensembl chr10:85,274,057...85,289,777
JBrowse link
G Grk1 G protein-coupled receptor kinase 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:30718709 NCBI chr16:81,153,489...81,165,442
Ensembl chr16:81,153,489...81,165,442
JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness
CTD
ClinVar
PMID:16249515, PMID:17405131, PMID:19666700, PMID:22008250, PMID:28041643, PMID:28492532, PMID:30718709 NCBI chr10:36,345,503...36,363,416
Ensembl chr10:36,345,939...36,360,665
JBrowse link
G Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:28492532 NCBI chr 2:235,213,017...235,232,894
Ensembl chr 2:235,213,027...235,232,530
JBrowse link
G Nyx nyctalopin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness, X-linked
CTD
ClinVar
NCBI chr  X:10,197,547...10,218,583
Ensembl chr  X:10,197,547...10,218,583
JBrowse link
G Pde6a phosphodiesterase 6A ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:7493036, PMID:30311386 NCBI chr18:56,544,652...56,617,480
Ensembl chr18:56,544,652...56,617,480
JBrowse link
G Pde6b phosphodiesterase 6B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant
CTD
ClinVar
PMID:8075643, PMID:30311386, PMID:30718709 NCBI chr14:2,328,690...2,371,913
Ensembl chr14:2,328,750...2,371,883
JBrowse link
G Rho rhodopsin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant
CTD
ClinVar
PMID:8107847, PMID:8358437, PMID:28492532, PMID:30311386 NCBI chr 4:147,832,136...147,837,298
Ensembl chr 4:147,832,136...147,837,298
JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:30311386 NCBI chr15:47,344,380...47,384,461
Ensembl chr15:47,373,120...47,383,508
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:28041643 NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
G Sag S-antigen visual arrestin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7670478 NCBI chr 9:94,926,901...94,972,162
Ensembl chr 9:94,928,489...94,972,027
JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:28492532 NCBI chr 8:70,409,683...70,438,352
Ensembl chr 8:70,408,528...70,436,028
JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO DNA:mutations:exon, intron:multiple (human)
ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:deletion, missense mutations:cds:multiple (human)
ClinVar
CTD
PMID:19878917, PMID:19896113, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, PMID:19878917, PMID:19896113, PMID:19896109 RGD:7175555, RGD:7183085, RGD:7183084 NCBI chr 1:124,983,391...125,101,759
Ensembl chr 1:124,983,452...125,099,573
JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO DNA:mutations:multiple (human) RGD PMID:19878917 RGD:7175555 NCBI chr10:59,829,755...59,863,780
Ensembl chr10:59,831,241...59,860,987
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:9624053, PMID:10090909, PMID:10729113, PMID:10775529, PMID:10909849, PMID:11311042, PMID:11402400, PMID:12112664, PMID:12525556, PMID:14970843, PMID:15025721, PMID:15325563, PMID:15326663, PMID:17296898, PMID:17405132, PMID:18641288, PMID:18665195, PMID:19881469, PMID:20145675, PMID:20301515, PMID:21174530, PMID:21234346, PMID:22495311, PMID:22581970, PMID:23352160, PMID:24033266, PMID:24088041, PMID:24160897, PMID:24607488, PMID:24944099, PMID:25097241, PMID:25404053, PMID:25649381, PMID:25741868, PMID:26633545, PMID:26872967, PMID:28041643, PMID:28492532, PMID:29953849, PMID:30718709 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
JBrowse link
congenital stationary night blindness 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 1A
ClinVar Annotator: match by OMIM:310500
OMIM
ClinVar
PMID:11062471, PMID:11062472, PMID:16670814, PMID:17392683, PMID:23406521, PMID:28492532 NCBI chr  X:10,197,547...10,218,583
Ensembl chr  X:10,197,547...10,218,583
JBrowse link
congenital stationary night blindness 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar NCBI chr 8:70,293,355...70,406,675
Ensembl chr 8:70,317,586...70,406,751
JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:30311386 NCBI chr10:85,273,839...85,289,886
Ensembl chr10:85,274,057...85,289,777
JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 1B
ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:257270
OMIM
ClinVar
PMID:11874764, PMID:15781871, PMID:16249515, PMID:17405131, PMID:19666700, PMID:19862333, PMID:22008250, PMID:22735794, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30718709 NCBI chr10:36,345,503...36,363,416
Ensembl chr10:36,345,939...36,360,665
JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:12037007, PMID:20850105, PMID:25741868, PMID:26822852, PMID:28492532 NCBI chr 8:70,409,683...70,438,352
Ensembl chr 8:70,408,528...70,436,028
JBrowse link
congenital stationary night blindness 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar NCBI chr 8:70,293,355...70,406,675
Ensembl chr 8:70,317,586...70,406,751
JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:30311386 NCBI chr10:85,273,839...85,289,886
Ensembl chr10:85,274,057...85,289,777
JBrowse link
G Mir211 microRNA 211 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 1C ClinVar PMID:25741868 NCBI chr 1:125,042,119...125,042,224
Ensembl chr 1:125,042,119...125,042,224
JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:12037007, PMID:20850105, PMID:25741868, PMID:26822852, PMID:28492532 NCBI chr 8:70,409,683...70,438,352
Ensembl chr 8:70,408,528...70,436,028
JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 1C
ClinVar Annotator: match by OMIM:613216
OMIM
ClinVar
PMID:19436059, PMID:19878917, PMID:19896109, PMID:19896113, PMID:19966281, PMID:20300565, PMID:22277662, PMID:25307992, PMID:25741868, PMID:25999674, PMID:26493165, PMID:26872967, PMID:28492532, PMID:30718709 NCBI chr 1:124,983,391...125,101,759
Ensembl chr 1:124,983,452...125,099,573
JBrowse link
congenital stationary night blindness 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar NCBI chr 8:70,293,355...70,406,675
Ensembl chr 8:70,317,586...70,406,751
JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:30311386 NCBI chr10:85,273,839...85,289,886
Ensembl chr10:85,274,057...85,289,777
JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Congenital stationary night blindness, type 1D
ClinVar Annotator: match by OMIM:613830
OMIM
ClinVar
PMID:12037007, PMID:20850105, PMID:25741868, PMID:26822852, PMID:28492532 NCBI chr 8:70,409,683...70,438,352
Ensembl chr 8:70,408,528...70,436,028
JBrowse link
congenital stationary night blindness 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar NCBI chr 8:70,293,355...70,406,675
Ensembl chr 8:70,317,586...70,406,751
JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 1E
ClinVar Annotator: match by OMIM:614565
OMIM
ClinVar
PMID:22325361, PMID:22325362, PMID:24033266, PMID:25741868, PMID:28041643, PMID:30311386, PMID:30718709 NCBI chr10:85,273,839...85,289,886
Ensembl chr10:85,274,057...85,289,777
JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:12037007, PMID:20850105, PMID:25741868, PMID:26822852, PMID:28492532 NCBI chr 8:70,409,683...70,438,352
Ensembl chr 8:70,408,528...70,436,028
JBrowse link
congenital stationary night blindness 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 1F
ClinVar Annotator: match by OMIM:615058
OMIM
ClinVar
PMID:22673519, PMID:23246293, PMID:28492532 NCBI chr 2:235,213,017...235,232,894
Ensembl chr 2:235,213,027...235,232,530
JBrowse link
congenital stationary night blindness 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Night blindness, congenital stationary, type 1g OMIM
ClinVar
PMID:22190596, PMID:25741868, PMID:26472407, PMID:28492532 NCBI chr 8:116,433,302...116,438,038
Ensembl chr 8:116,433,302...116,438,038
JBrowse link
congenital stationary night blindness 1H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H ClinVar PMID:27063057 NCBI chr 4:157,347,876...157,351,889
Ensembl chr 4:157,348,020...157,351,604
JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by OMIM:617024 ClinVar
OMIM
PMID:27063057 NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
JBrowse link
Congenital Stationary Night Blindness 1I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1I OMIM
ClinVar
PMID:10766140, PMID:16505055, PMID:17724218, PMID:20050595, PMID:23035049, PMID:25477517, PMID:25741868, PMID:26253563, PMID:26626312, PMID:28492532, PMID:29061346, PMID:29559409, PMID:30718709 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
JBrowse link
congenital stationary night blindness 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A
ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A, severe
ClinVar Annotator: match by OMIM:300071
OMIM
ClinVar
PMID:9529339, PMID:9662399, PMID:9662400, PMID:12187427, PMID:12719097, PMID:15897456, PMID:24033266, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30576320, PMID:30718709 NCBI chr  X:15,712,709...15,741,135
Ensembl chr  X:15,712,713...15,741,103
JBrowse link
Congenital Stationary Night Blindness 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 2B
ClinVar Annotator: match by OMIM:610427
OMIM
ClinVar
PMID:16960802, PMID:19074807, PMID:20157620, PMID:23099293, PMID:23714322, PMID:25258313, PMID:25741868, PMID:26234941, PMID:28041643, PMID:28492532, PMID:29525873, PMID:30718709 NCBI chr 1:219,383,452...219,388,009
Ensembl chr 1:219,383,452...219,388,009
JBrowse link
G Gpr152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 2B ClinVar NCBI chr 1:219,389,418...219,394,124
Ensembl chr 1:219,390,523...219,392,478
JBrowse link
congenital stationary night blindness autosomal dominant 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rho rhodopsin ISO ClinVar Annotator: match by term: Congenital stationary night blindness, autosomal dominant 1
ClinVar Annotator: match by OMIM:610445
OMIM
ClinVar
PMID:1418997, PMID:1987955, PMID:1987956, PMID:2137202, PMID:2239971, PMID:2509724, PMID:7981701, PMID:8088850, PMID:8107847, PMID:8317502, PMID:8358437, PMID:9050844, PMID:9380676, PMID:9618546, PMID:9888392, PMID:10521250, PMID:11139241, PMID:11879142, PMID:12091393, PMID:12860986, PMID:12871954, PMID:14769795, PMID:14971589, PMID:15509574, PMID:16123440, PMID:16767206, PMID:17488458, PMID:19913029, PMID:20591486, PMID:21094163, PMID:21217109, PMID:21219898, PMID:22164218, PMID:22323724, PMID:22995991, PMID:24760071, PMID:24853414, PMID:25097241, PMID:25741868, PMID:25999674, PMID:28492532, PMID:28559085, PMID:29847639, PMID:30240733, PMID:30311386, PMID:30718709 NCBI chr 4:147,832,136...147,837,298
Ensembl chr 4:147,832,136...147,837,298
JBrowse link
congenital stationary night blindness autosomal dominant 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Congenital stationary night blindness, autosomal dominant 2
ClinVar Annotator: match by OMIM:163500
OMIM
ClinVar
PMID:7724547, PMID:8075643, PMID:17044014, PMID:22334370, PMID:24033266, PMID:24938718, PMID:25472526, PMID:25741868, PMID:25999674, PMID:26667666, PMID:27588261, PMID:28041643, PMID:28492532, PMID:28912962, PMID:28981474, PMID:30029497, PMID:30311386, PMID:30718709 NCBI chr14:2,328,690...2,371,913
Ensembl chr14:2,328,750...2,371,883
JBrowse link
congenital stationary night blindness autosomal dominant 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, autosomal dominant 3
ClinVar Annotator: match by OMIM:610444
OMIM
ClinVar
PMID:8673138, PMID:17584859, PMID:25741868, PMID:26472407, PMID:28492532 NCBI chr 8:116,433,302...116,438,038
Ensembl chr 8:116,433,302...116,438,038
JBrowse link
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy, mental retardation, and absence of erg b-wave ClinVar PMID:8817332 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
hereditary night blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Congenital night blindness ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Grk1 G protein-coupled receptor kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oguchi's disease
CTD
ClinVar
PMID:25741868 NCBI chr16:81,153,489...81,165,442
Ensembl chr16:81,153,489...81,165,442
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Congenital night blindness ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
G Sag S-antigen visual arrestin ISO DNA:deletion:cds:p.N309fsX321 (human)
ClinVar Annotator: match by term: Oguchi's disease
ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 1
ClinVar Annotator: match by OMIM:258100
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:7670478, PMID:9452120, PMID:9501883, PMID:9565049, PMID:15234147, PMID:15295660, PMID:17200654, PMID:18175313, PMID:20981092, PMID:21447990, PMID:21922265, PMID:21987685, PMID:22419846, PMID:22665972, PMID:22995991, PMID:24265693, PMID:25268133, PMID:25741868, PMID:28492532, PMID:30311386, PMID:7670478 RGD:734491 NCBI chr 9:94,926,901...94,972,162
Ensembl chr 9:94,928,489...94,972,027
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Congenital night blindness ClinVar PMID:9624053, PMID:10090909, PMID:10729113, PMID:10775529, PMID:10909849, PMID:11311042, PMID:11402400, PMID:12112664, PMID:12525556, PMID:14970843, PMID:15025721, PMID:15325563, PMID:15326663, PMID:17296898, PMID:17405132, PMID:18641288, PMID:18665195, PMID:19881469, PMID:20145675, PMID:20301515, PMID:21174530, PMID:21234346, PMID:22495311, PMID:22581970, PMID:23352160, PMID:24033266, PMID:24088041, PMID:24160897, PMID:24607488, PMID:24944099, PMID:25097241, PMID:25404053, PMID:25649381, PMID:25741868, PMID:26633545, PMID:26872967, PMID:28041643, PMID:28492532, PMID:29953849, PMID:30718709 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
JBrowse link
Oguchi disease-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 1 OMIM
ClinVar
PMID:7670478, PMID:9565049, PMID:15234147, PMID:15295660, PMID:17200654, PMID:21447990, PMID:21922265, PMID:21987685, PMID:25268133, PMID:25741868 NCBI chr 9:94,926,901...94,972,162
Ensembl chr 9:94,928,489...94,972,027
JBrowse link
Oguchi disease-2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grk1 G protein-coupled receptor kinase 1 ISO ClinVar Annotator: match by term: Oguchi disease 2 ClinVar
OMIM
PMID:9020843, PMID:9419375, PMID:16319817, PMID:17070587, PMID:17765441, PMID:19753316, PMID:22959359, PMID:26349155, PMID:27511724, PMID:28418496, PMID:28511019, PMID:30718709 NCBI chr16:81,153,489...81,165,442
Ensembl chr16:81,153,489...81,165,442
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      eye disease 2664
        retinal disease 783
          night blindness 45
            Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave 1
            Fleck Retina of Kandori 0
            Night Blindness Skeletal Anomalies Unusual Facies 0
            abnormal threshold of rods 0
            dominant pericentral pigmentary retinopathy 0
            hereditary night blindness + 29
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        Neurologic Manifestations 4214
          Sensation Disorders 1026
            Vision Disorders 203
              night blindness 45
                Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave 1
                Fleck Retina of Kandori 0
                Night Blindness Skeletal Anomalies Unusual Facies 0
                abnormal threshold of rods 0
                dominant pericentral pigmentary retinopathy 0
                hereditary night blindness + 29
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.