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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:congenital stationary night blindness
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Accession:DOID:0050534 term browser browse the term
Definition:A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. (DO)
Synonyms:exact_synonym: CRSD;   congenital essential nyctalopia;   congenital stationary night blindness, type 1;   hemeralopia-myopia
 narrow_synonym: CSNB, complete, autosomal recessive;   CSNB, incomplete, X-linked;   CSNB, incomplete, autosomal recessive;   NBM1 nyctalopia;   X-linked CSNB;   X-linked congenital stationary night blindness;   XLCSNB;   congenital stationary night blindness, complete, autosomal recessive;   congenital stationary night blindness, dominant;   congenital stationary night blindness, recessive;   myopia-night blindness
 primary_id: MESH:C536122
 alt_id: RDO:0001565
 xref: OMIM:PS310500;   ORDO:215
For additional species annotation, visit the Alliance of Genome Resources.


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congenital stationary night blindness term browser
Symbol Object Name 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:deletion, missense mutations:cds:multiple (human)
DNA:mutations:multiple (human)
ClinVar
CTD
PMID:19878917, PMID:19896113, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, PMID:19878917, PMID:19896109, PMID:19896113 RGD:7175555, RGD:7183084, RGD:7183085 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
Oguchi disease-1 term browser
Symbol Object Name 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 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
        Hereditary Eye Diseases 580
          hereditary night blindness 29
            congenital stationary night blindness 29
              Congenital Stationary Night Blindness 1I 1
              Congenital Stationary Night Blindness 2B 2
              Oguchi disease-1 1
              Oguchi disease-2 1
              congenital stationary night blindness 1A 1
              congenital stationary night blindness 1B 4
              congenital stationary night blindness 1C 5
              congenital stationary night blindness 1D 3
              congenital stationary night blindness 1E 3
              congenital stationary night blindness 1F 1
              congenital stationary night blindness 1G 1
              congenital stationary night blindness 1H 2
              congenital stationary night blindness 2A 1
              congenital stationary night blindness autosomal dominant 1 1
              congenital stationary night blindness autosomal dominant 2 1
              congenital stationary night blindness autosomal dominant 3 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          eye disease 2664
            Vision Disorders 203
              night blindness 45
                hereditary night blindness 29
                  congenital stationary night blindness 29
                    Congenital Stationary Night Blindness 1I 1
                    Congenital Stationary Night Blindness 2B 2
                    Oguchi disease-1 1
                    Oguchi disease-2 1
                    congenital stationary night blindness 1A 1
                    congenital stationary night blindness 1B 4
                    congenital stationary night blindness 1C 5
                    congenital stationary night blindness 1D 3
                    congenital stationary night blindness 1E 3
                    congenital stationary night blindness 1F 1
                    congenital stationary night blindness 1G 1
                    congenital stationary night blindness 1H 2
                    congenital stationary night blindness 2A 1
                    congenital stationary night blindness autosomal dominant 1 1
                    congenital stationary night blindness autosomal dominant 2 1
                    congenital stationary night blindness autosomal dominant 3 1
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.