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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:pathologic nystagmus
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Accession:DOID:9650 term browser browse the term
Definition:Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)
Synonyms:exact_synonym: Conjugate Nystagmus;   Convergence Nystagmus;   Fatigable Positional Nystagmus;   Horizontal Nystagmus;   Jerk Nystagmus;   Multidirectional Nystagmus;   Non Fatigable Positional Nystagmus;   Nystagmus;   Pendular Nystagmus;   Periodic Alternating Nystagmus;   Permanent Nystagmus;   Rebound Nystagmus;   Retraction Nystagmus;   Rotary Nystagmus;   Rotational Nystagmus;   See Saw Nystagmus;   Symptomatic Nystagmus;   Temporary Nystagmus;   Unidirectional Nystagmus;   Vertical Nystagmus
 primary_id: MESH:D009759;   RDO:0000649
 xref: ICD10CM:H55.0;   ICD9CM:379.50;   NCI:C3282
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
pathologic nystagmus 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: Nystagmus ClinVar PMID:9054934, PMID:11017087, PMID:19265867, PMID:22264887, PMID:28492532, PMID:28559085, PMID:30311386, PMID:30576320 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Horizontal nystagmus ClinVar PMID:30311386 NCBI chr16:14,328,161...14,348,049
Ensembl chr16:14,328,160...14,348,046
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:16909394, PMID:17345604, PMID:17564967, PMID:17964524, PMID:20683928, PMID:21866095, PMID:23188109, PMID:23344081, PMID:25741868, PMID:25920555, PMID:26092869, PMID:28492532, PMID:28497568, PMID:28829391, PMID:29398085, PMID:30311386 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Horizontal nystagmus ClinVar PMID:20717163, PMID:24033266, PMID:27460420, PMID:30311386 NCBI chr 2:149,049,925...149,088,787
Ensembl chr 2:149,049,925...149,088,787
JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:9662398, PMID:11536077, PMID:17693388, PMID:18445228, PMID:20238023, PMID:23972307, PMID:24033266, PMID:24504161, PMID:25637600, PMID:25741868, PMID:26992781, PMID:28341476, PMID:28492532, PMID:28559085, PMID:30311386 NCBI chr 9:43,807,412...43,858,225
Ensembl chr 9:43,807,677...43,854,396
JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Horizontal nystagmus
ClinVar Annotator: match by term: Nystagmus
ClinVar PMID:1347967, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16379026, PMID:17265047, PMID:17652762, PMID:20079539, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25558176, PMID:25741868, PMID:25770143, PMID:28041643, PMID:28492532, PMID:28795510, PMID:29769798, PMID:30311386, PMID:30718709 NCBI chr 5:33,097,353...33,507,467
Ensembl chr 5:33,097,654...33,507,467
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Nystagmus ClinVar NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:25407461, PMID:25741868, PMID:26092869, PMID:28125082, PMID:28492532, PMID:30311386 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Horizontal nystagmus
ClinVar Annotator: match by term: Nystagmus
ClinVar PMID:10508521, PMID:15024725, PMID:20956273, PMID:22968130, PMID:23449718, PMID:24715753, PMID:28492532, PMID:30311386, PMID:30718709 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Horizontal nystagmus ClinVar PMID:22200994, PMID:23757202, PMID:24033266, PMID:28654958, PMID:30311386 NCBI chr 8:36,401,317...36,410,589
Ensembl chr 8:36,403,493...36,410,612
JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:10338095, PMID:10737981, PMID:15714521, PMID:16941474, PMID:17309651, PMID:17664528, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Horizontal nystagmus ClinVar PMID:30311386 NCBI chr 8:116,433,302...116,438,038
Ensembl chr 8:116,433,302...116,438,038
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:9596582, PMID:10819326, PMID:24033266, PMID:25485910, PMID:27108799, PMID:27513193, PMID:27668284, PMID:28087732, PMID:30194818 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
JBrowse link
G Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:25741868 NCBI chr  X:23,668,363...23,693,162
Ensembl chr  X:23,668,363...23,693,162
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:17964524, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
JBrowse link
G Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:9497254, PMID:9705234, PMID:15952982, PMID:17365864, PMID:20514622, PMID:25741868, PMID:26806224, PMID:28081892, PMID:28492532, PMID:30311386, PMID:31064749 NCBI chr 1:261,989,178...262,015,282
Ensembl chr 1:261,989,178...262,015,153
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Pendular nystagmus ClinVar PMID:30311386 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:30311386 NCBI chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
JBrowse link
G Myoc myocilin ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:9005853, PMID:9639450, PMID:10815160, PMID:11292420, PMID:11535458, PMID:11803488, PMID:11815346, PMID:12189160, PMID:12522550, PMID:12872267, PMID:17562996, PMID:17615537, PMID:19023451, PMID:20021252, PMID:22933836, PMID:23304066, PMID:24732711, PMID:25741868, PMID:30311386 NCBI chr13:80,517,531...80,527,928
Ensembl chr13:80,517,536...80,527,928
JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:25741868 NCBI chr  X:6,791,090...6,815,586
Ensembl chr  X:6,791,136...6,815,583
Ensembl chr  X:6,791,136...6,815,583
JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Horizontal nystagmus ClinVar PMID:10655056, PMID:15453866, PMID:15459973, PMID:18294254, PMID:19273793, PMID:19718767, PMID:21217109, PMID:23039133, PMID:23591405, PMID:23989059, PMID:24474277, PMID:25079116, PMID:25097241, PMID:25703721, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709 NCBI chr 8:64,797,518...64,801,587
Ensembl chr 8:64,797,518...64,800,467
JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:30311386 NCBI chr 2:5,569,954...5,579,894
Ensembl chr 2:5,569,935...5,579,894
JBrowse link
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:11062472, PMID:28492532, PMID:30311386 NCBI chr  X:10,197,547...10,218,583
Ensembl chr  X:10,197,547...10,218,583
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:17722006, PMID:21636302, PMID:25012220, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:30311386 NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:30311386 NCBI chr 7:3,335,681...3,342,573
Ensembl chr 7:3,335,742...3,342,491
JBrowse link
G Rogdi rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Horizontal nystagmus ClinVar PMID:30311386 NCBI chr10:10,761,477...10,766,096
Ensembl chr10:10,761,477...10,766,095
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11283794 NCBI chr15:28,521,287...28,575,046
Ensembl chr15:28,522,737...28,574,737
JBrowse link
G Six3 SIX homeobox 3 ISO ClinVar Annotator: match by term: Horizontal nystagmus ClinVar PMID:30311386 NCBI chr 6:8,886,730...8,891,094
Ensembl chr 6:8,886,591...8,889,925
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Nystagmus ClinVar NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:25741868 NCBI chr17:24,653,342...24,670,457
Ensembl chr17:24,654,902...24,670,457
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Nystagmus ClinVar PMID:10508989, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:24033266, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:26729329, PMID:27491411, PMID:28492532, PMID:30311386 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Horizontal nystagmus ClinVar PMID:666627, PMID:1429711, PMID:1820207, PMID:1899321, PMID:7704033, PMID:9158138, PMID:10766867, PMID:17952075, PMID:17999355, PMID:18326704, PMID:18488027, PMID:18488028, PMID:18925668, PMID:19208379, PMID:19533789, PMID:21541274, PMID:23504663, PMID:25216246, PMID:25741868, PMID:30311386 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Nystagmus
ClinVar Annotator: match by term: Horizontal nystagmus
ClinVar PMID:24033266, PMID:30311386 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
JBrowse link
congenital nystagmus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23301081 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
G Atf6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chr13:89,053,457...89,242,531
Ensembl chr13:89,055,983...89,242,443
JBrowse link
G Myo7a myosin VIIA ISO associated with Leber Congenital Amaurosis;DNA:missense mutation:cds:c.578C>T (p.T193I)(human) RGD PMID:21901789 RGD:11537385 NCBI chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
JBrowse link
G Pax6 paired box 6 ISO DNA:snp:intron:IVS4+5G>C (human) RGD PMID:15629294 RGD:8552281 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
congenital nystagmus 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frmd7 FERM domain containing 7 ISO ClinVar Annotator: match by term: Infantile nystagmus, X-linked
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:310700
OMIM
ClinVar
CTD
PMID:16020310, PMID:16240070, PMID:17013395, PMID:17768376, PMID:17962394, PMID:18087240, PMID:19072571, PMID:19892780, PMID:21303855, PMID:21746984, PMID:23020937, PMID:24513357, PMID:25741868, PMID:25916882, PMID:28492532 NCBI chr  X:138,095,707...138,149,702
Ensembl chr  X:138,098,185...138,148,967
JBrowse link
congenital nystagmus 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: Nystagmus 6, congenital, X-linked
ClinVar Annotator: match by OMIM:300814
OMIM
ClinVar
PMID:17516023, PMID:18523664, PMID:19390656, PMID:25741868 NCBI chr  X:23,668,363...23,693,162
Ensembl chr  X:23,668,363...23,693,162
JBrowse link
episodic ataxia type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Episodic ataxia type 2
ClinVar Annotator: match by term: Cerebellar ataxia, paroxysmal, Acetazolamide-responsive
ClinVar Annotator: match by term: Episodic ataxia, type 2, and epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:108500
ClinVar
CTD
OMIM
PMID:1564484, PMID:3358708, PMID:8898206, PMID:8988170, PMID:9005860, PMID:9302278, PMID:9329229, PMID:9345107, PMID:9403487, PMID:9436730, PMID:9488686, PMID:9559993, PMID:9600739, PMID:9879686, PMID:9915947, PMID:10024348, PMID:10371528, PMID:10408532, PMID:10408533, PMID:10734061, PMID:10987655, PMID:11176968, PMID:11179022, PMID:11370629, PMID:11409427, PMID:11439943, PMID:11564488, PMID:11723274, PMID:11809294, PMID:11814735, PMID:11971066, PMID:11985388, PMID:12056940, PMID:12420090, PMID:12707077, PMID:12756131, PMID:14718690, PMID:15173248, PMID:15240985, PMID:15300451, PMID:15452324, PMID:15483044, PMID:15710862, PMID:15795222, PMID:15985579, PMID:16043807, PMID:16325861, PMID:16595610, PMID:16787562, PMID:16866717, PMID:17119788, PMID:17142831, PMID:17292920, PMID:17495624, PMID:17575281, PMID:17588611, PMID:18056581, PMID:18313928, PMID:18354422, PMID:18498393, PMID:18541804, PMID:18606230, PMID:18644040, PMID:18940563, PMID:19232643, PMID:19484318, PMID:19486177, PMID:19586927, PMID:19633872, PMID:19811514, PMID:19864665, PMID:20080591, PMID:20097664, PMID:20129625, PMID:20156848, PMID:20204399, PMID:20233618, PMID:20301674, PMID:20396531, PMID:20663518, PMID:20682717, PMID:20837964, PMID:21183743, PMID:21703448, PMID:21734179, PMID:22000314, PMID:22190617, PMID:22249839, PMID:22784462, PMID:22969264, PMID:23038654, PMID:23071170, PMID:23183922, PMID:23344743, PMID:23397224, PMID:23441182, PMID:23771276, PMID:23831250, PMID:23869231, PMID:23934111, PMID:24033266, PMID:24108129, PMID:24270521, PMID:24420976, PMID:24486772, PMID:24658662, PMID:24664531, PMID:24996492, PMID:25266619, PMID:25274239, PMID:25326635, PMID:25326637, PMID:25356970, PMID:25481746, PMID:25735478, PMID:25741868, PMID:25758715, PMID:25851414, PMID:26423924, PMID:26467025, PMID:26633542, PMID:26716990, PMID:26795593, PMID:26814174, PMID:26912519, PMID:27066515, PMID:27250579, PMID:27290639, PMID:27400454, PMID:27476654, PMID:27667184, PMID:27871455, PMID:28007337, PMID:28169007, PMID:28431595, PMID:28444220, PMID:28455667, PMID:28492532, PMID:28540055, PMID:28566750, PMID:28742085, PMID:29056246, PMID:29100083, PMID:29482223, PMID:29915382, PMID:29997391, PMID:30011838, PMID:30142438, PMID:30167989, PMID:30283815, PMID:30311386, PMID:32238909, PMID:32295525, PMID:32581362, PMID:97053792, PMID:14530926 RGD:1358446 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
Foveal Hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atoh7 atonal bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:28492532, PMID:31696227 NCBI chr20:27,082,961...27,083,410
Ensembl chr20:27,082,961...27,083,410
JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:25741868 NCBI chr15:34,197,115...34,201,408
Ensembl chr15:34,197,193...34,198,921
JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:31696227 NCBI chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145
JBrowse link
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:24045842 NCBI chr19:52,110,517...52,142,500
Ensembl chr19:52,119,992...52,139,633
JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:666627, PMID:1429711, PMID:1820207, PMID:7704033, PMID:9158138, PMID:10766867, PMID:17952075, PMID:18326704, PMID:18488027, PMID:18488028, PMID:18925668, PMID:19208379, PMID:19533789, PMID:21541274, PMID:23504663, PMID:25216246, PMID:25741868, PMID:30311386 NCBI chr 1:151,012,598...151,106,802
Ensembl chr 1:151,012,598...151,106,802
JBrowse link
Foveal Hypoplasia and Anterior Segment Dysgenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by OMIM:609218
ClinVar Annotator: match by term: Foveal hypoplasia and anterior segment dysgenesis
OMIM
ClinVar
PMID:19590516, PMID:24045842, PMID:24290379 NCBI chr19:52,110,517...52,142,500
Ensembl chr19:52,119,992...52,139,633
JBrowse link
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by OMIM:212550
ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15266624, PMID:23167593, PMID:24702266, PMID:25741868, PMID:26416026, PMID:28492532, PMID:28617965, PMID:29597095 NCBI chr 6:95,816,749...95,821,729
Ensembl chr 6:95,816,749...95,821,729
JBrowse link
O'Donnell Pappas Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome ClinVar NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome
ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT
ClinVar Annotator: match by term: Foveal hypoplasia 1 with cataract
ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies
ClinVar Annotator: match by OMIM:136520
OMIM
ClinVar
PMID:8640214, PMID:9727514, PMID:9931324, PMID:10441571, PMID:12868034, PMID:15086958, PMID:15629294, PMID:16407227, PMID:17417613, PMID:18776953, PMID:25741868, PMID:28492532 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kidins220 kinase D-interacting substrate 220 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity
ClinVar
OMIM
PMID:25741868, PMID:27005418 NCBI chr 6:44,225,142...44,322,938
Ensembl chr 6:44,225,233...44,322,938
JBrowse link
Zonular Cataract and Nystagmus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Zonular cataract and nystagmus ClinVar PMID:25741868 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    sensory system disease 5163
      eye disease 2592
        ocular motility disease 173
          pathologic nystagmus 48
            Hereditary Vertical Nystagmus 0
            Myoclonic Nystagmus 0
            Neuhauser Daly Magnelli Syndrome 0
            Singh Chhaparwal Dhanda Syndrome 0
            Split Hand Split Foot Nystagmus 0
            Zonular Cataract and Nystagmus 1
            congenital nystagmus + 14
            dissociated nystagmus 0
            episodic ataxia type 2 1
            spontaneous ocular nystagmus 0
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        peripheral nervous system disease 2471
          neuropathy 2292
            cranial nerve disease 472
              ocular motility disease 173
                pathologic nystagmus 48
                  Hereditary Vertical Nystagmus 0
                  Myoclonic Nystagmus 0
                  Neuhauser Daly Magnelli Syndrome 0
                  Singh Chhaparwal Dhanda Syndrome 0
                  Split Hand Split Foot Nystagmus 0
                  Zonular Cataract and Nystagmus 1
                  congenital nystagmus + 14
                  dissociated nystagmus 0
                  episodic ataxia type 2 1
                  spontaneous ocular nystagmus 0
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.