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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:hyperopia
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Accession:DOID:9834 term browser browse the term
Definition:A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)
Synonyms:exact_synonym: far-sightedness;   farsightedness;   hypermetropia
 primary_id: MESH:D006956
 alt_id: RDO:0001058
 xref: ICD10CM:H52.0;   ICD9CM:367.0
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hyperopia 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: Hyperopia
ClinVar Annotator: match by term: Hypermetropia
ClinVar PMID:9054934, PMID:9466990, PMID:9666097, PMID:9781034, PMID:9973280, PMID:10090887, PMID:10206579, PMID:10413692, PMID:10711710, PMID:10958763, PMID:11017087, PMID:11328725, PMID:11527935, PMID:11702214, PMID:12192456, PMID:12796258, PMID:15579991, PMID:16103129, PMID:16303926, PMID:18285826, PMID:18854780, PMID:19074458, PMID:19217903, PMID:22312191, PMID:23755871, PMID:23769331, PMID:23918662, PMID:24033266, PMID:24265693, PMID:24509150, PMID:24713488, PMID:25087612, PMID:25712131, PMID:25741868, PMID:26229699, PMID:26593885, PMID:26872967, PMID:27367509, PMID:27820952, PMID:27939946, PMID:28041643, PMID:28118664, PMID:28492532, PMID:29114839, PMID:29162642, PMID:29186038, PMID:29555955, PMID:29847635, PMID:29854428, PMID:30311386, PMID:30718709, PMID:31576780 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Hyperopia ClinVar PMID:30311386 NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
JBrowse link
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Hyperopia ClinVar PMID:30311386 NCBI chr10:46,768,539...46,783,889
Ensembl chr10:46,768,539...46,783,889
JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Hyperopia ClinVar PMID:9662398, PMID:11536077, PMID:17693388, PMID:20238023, PMID:24504161, PMID:25637600, PMID:25741868, PMID:26992781, PMID:28492532, PMID:30311386 NCBI chr 9:43,807,412...43,858,225
Ensembl chr 9:43,807,677...43,854,396
JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Hyperopia ClinVar PMID:30311386 NCBI chr10:14,059,347...14,061,703
Ensembl chr10:14,059,347...14,061,703
JBrowse link
G Nog noggin ISO associated with Multiple Synostoses Syndrome 1; DNA:mutation:cds:1426G>C (P.W205C)(Human) RGD PMID:16151340 RGD:12801467 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Hyperopia ClinVar PMID:30311386 NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Hypermetropia ClinVar PMID:25741868, PMID:30311386 NCBI chr 5:56,554,956...56,566,503
Ensembl chr 5:56,554,969...56,567,320
JBrowse link
3MC syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec11 collectin sub-family member 11 ISO ClinVar Annotator: match by term: Carnevale syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:265050
OMIM
ClinVar
CTD
PMID:2569826, PMID:8933348, PMID:21258343, PMID:25741868 NCBI chr 6:47,857,767...47,889,961
Ensembl chr 6:47,857,771...47,890,033
JBrowse link
G Masp1 mannan-binding lectin serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382
JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: OSA syndrome ClinVar PMID:8528239, PMID:8571951, PMID:8931695, PMID:9342225, PMID:10465113, PMID:10482955, PMID:11241838, PMID:11303514, PMID:11448940, PMID:11565064, PMID:12525546, PMID:12966518, PMID:15294877, PMID:15316973, PMID:16642506, PMID:18708426, PMID:18925670, PMID:20219950, PMID:20301524, PMID:20525296, PMID:21077202, PMID:21077204, PMID:21155763, PMID:21922596, PMID:22052783, PMID:23840040, PMID:24033266, PMID:24598000, PMID:25741868, PMID:27065010, PMID:28492532, PMID:29024831 NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
JBrowse link
Alazami-Yuan Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar
OMIM
PMID:25558065, PMID:25574841, PMID:30311386 NCBI chr12:19,320,269...19,328,706
Ensembl chr12:19,320,271...19,328,637
JBrowse link
Blepharophimosis Syndrome Type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Blepharophimosis syndrome type 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11175783, PMID:11468277, PMID:11776388, PMID:12400065, PMID:12529855, PMID:12567411, PMID:12630957, PMID:12938087, PMID:16219626, PMID:17089161, PMID:18372316, PMID:20429427, PMID:21889601, PMID:25741868 NCBI chr 8:107,194,492...107,197,644
Ensembl chr 8:107,194,551...107,195,675
JBrowse link
Blepharophimosis Syndrome Type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Blepharophimosis syndrome type 2 ClinVar PMID:11175783, PMID:11468277, PMID:11776388, PMID:12400065, PMID:12529855, PMID:12630957, PMID:12938087, PMID:16283882, PMID:18372316, PMID:21325395, PMID:25741868 NCBI chr 8:107,194,492...107,197,644
Ensembl chr 8:107,194,551...107,195,675
JBrowse link
blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr 8:106,582,339...106,603,763 JBrowse link
G Foxl2 forkhead box L2 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus
ClinVar Annotator: match by term: BPES with Duane retraction syndrome
ClinVar Annotator: match by term: BPES with ovarian failure
ClinVar Annotator: match by term: BPES without ovarian failure
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:110100
ClinVar
CTD
OMIM
PMID:11175783, PMID:11468277, PMID:11776388, PMID:12149404, PMID:12161610, PMID:12400065, PMID:12529855, PMID:12630957, PMID:12938087, PMID:16283882, PMID:19429596, PMID:25741868, PMID:30311386, PMID:11175783 RGD:1598958 NCBI chr 8:107,194,492...107,197,644
Ensembl chr 8:107,194,551...107,195,675
JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
JBrowse link
Duane retraction syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Duane's syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 3:60,512,360...60,668,413
Ensembl chr 3:60,513,077...60,611,924
JBrowse link
G Mafb MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:156,338,993...156,340,913
Ensembl chr 3:156,339,004...156,340,913
JBrowse link
G Sall4 spalt-like transcription factor 4 ISO DNA:snps, deletions, insertion:multiple (human)
CTD Direct Evidence: marker/mechanism
DNA:duplication:cds:c.410dupG (human)
DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human)
DNA:nonsense mutation:cds:p.R905X (human)
DNA:frameshift mutation:cds:p.M640IfsX25 (human)
CTD PMID:16402211, PMID:30067223, PMID:12393809, PMID:26791099, PMID:12395297, PMID:16411190, PMID:17216607, PMID:23687435 RGD:11556210, RGD:11532205, RGD:11556232, RGD:11556231, RGD:11556215, RGD:11556211 NCBI chr 3:165,520,155...165,538,176
Ensembl chr 3:165,520,392...165,537,940
JBrowse link
Duane Retraction Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mafb MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Duane syndrome type 1 ClinVar PMID:27181683 NCBI chr 3:156,338,993...156,340,913
Ensembl chr 3:156,339,004...156,340,913
JBrowse link
Duane Retraction Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Duane syndrome type 2
ClinVar Annotator: match by term: Duane retraction syndrome 2
ClinVar
OMIM
PMID:10577917, PMID:10942112, PMID:17197532, PMID:18653847, PMID:20535495, PMID:21555619, PMID:28492532 NCBI chr 3:60,512,360...60,668,413
Ensembl chr 3:60,513,077...60,611,924
JBrowse link
Duane Retraction Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mafb MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Duane syndrome type 3 ClinVar
OMIM
PMID:27181683 NCBI chr 3:156,338,993...156,340,913
Ensembl chr 3:156,339,004...156,340,913
JBrowse link
esotropia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:30311386 NCBI chr12:27,155,362...28,252,752
Ensembl chr12:28,212,333...28,251,816
JBrowse link
G Cenpj centromere protein J ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:25741868, PMID:30311386 NCBI chr15:36,745,672...36,809,228
Ensembl chr15:36,746,088...36,798,814
JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:16450403, PMID:30311386 NCBI chr 1:248,295,140...248,377,122
Ensembl chr 1:248,297,331...248,377,093
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:28492532, PMID:30311386 NCBI chr 7:117,230,319...117,291,859
Ensembl chr 7:117,230,319...117,289,961
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Esotropia ClinVar PMID:16845400, PMID:17846997, PMID:18069026, PMID:18414213, PMID:18754903, PMID:19015152, PMID:19034401, PMID:19694776, PMID:20131292, PMID:21177854, PMID:22149989, PMID:24033266, PMID:25243380, PMID:25274781, PMID:25343331, PMID:25604658, PMID:25741868, PMID:26182405, PMID:26467025, PMID:26846091, PMID:26903602, PMID:27009121, PMID:28492532, PMID:28762473, PMID:30311386 NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:25741868 NCBI chr17:24,653,342...24,670,457
Ensembl chr17:24,654,902...24,670,457
JBrowse link
G Ttc8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Esodeviation 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 Tyr tyrosinase ISO ClinVar Annotator: match by term: Esodeviation 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
high hyperopia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfrp membrane frizzled-related protein ISO DNA:missense, deletion, duplication mutations:cds: RGD PMID:26583794 RGD:11076374 NCBI chr 8:48,437,720...48,443,421
Ensembl chr 8:48,437,918...48,443,421
JBrowse link
hypotropia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Hypotropia 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
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sobp sine oculis binding protein homolog ISO ClinVar Annotator: match by term: Mental retardation, anterior maxillary protrusion, and strabismus
ClinVar Annotator: match by OMIM:613671
OMIM
ClinVar
PMID:17618476, PMID:21035105, PMID:25741868 NCBI chr20:47,731,713...47,910,466
Ensembl chr20:47,750,762...47,910,375
JBrowse link
Nanophthalmos 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Nanophthalmos 1 ClinVar NCBI chr 1:226,260,558...226,292,650
Ensembl chr 1:226,260,558...226,292,480
JBrowse link
Nanophthalmos 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem98 transmembrane protein 98 ISO ClinVar Annotator: match by term: Nanophthalmos 4 OMIM
ClinVar
PMID:24852644, PMID:26392740 NCBI chr10:68,173,380...68,184,289
Ensembl chr10:68,173,369...68,184,320
JBrowse link
strabismus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahctf1 AT hook containing transcription factor 1 ISO ClinVar Annotator: match by term: Squint ClinVar NCBI chr13:98,023,528...98,079,138
Ensembl chr13:98,023,430...98,078,946
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:14710472 RGD:8699500 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Squint ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Ctnnd1 catenin delta 1 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 3:72,001,904...72,053,047
Ensembl chr 3:72,002,152...72,053,049
JBrowse link
G Eif4a1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr10:56,271,257...56,276,764
Ensembl chr10:56,271,257...56,276,764
JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Squint ClinVar PMID:21705420, PMID:23623387, PMID:24033266, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
JBrowse link
G Fmr1 FMRP translational regulator 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr  X:154,684,924...154,722,369
Ensembl chr  X:154,684,935...154,722,314
JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:25741868 NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:9596582, PMID:10819326, PMID:24033266, PMID:25485910, PMID:25741868, PMID:25741901, PMID:27108799, PMID:27513193, PMID:27668284, PMID:28087732, PMID:30194818, PMID:32963807 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
JBrowse link
G Grhl3 grainyhead-like transcription factor 3 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 5:153,893,039...153,925,045
Ensembl chr 5:153,893,039...153,924,896
JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868, PMID:31010896 NCBI chr16:71,046,475...71,057,883
Ensembl chr16:71,046,475...71,057,883
JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Squint ClinVar PMID:25741868 NCBI chr12:43,421,317...43,576,859
Ensembl chr12:43,421,308...43,576,804
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Congenital strabismus ClinVar PMID:30311386 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:21520333, PMID:28492532, PMID:30311386 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Pcgf3 polycomb group ring finger 3 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr14:2,247,805...2,297,155
Ensembl chr14:2,247,808...2,297,155
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
JBrowse link
G Pdhx pyruvate dehydrogenase complex, component X ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 3:92,910,300...92,933,725
Ensembl chr 3:92,909,725...92,969,050
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:19862844, PMID:21541725, PMID:28492532, PMID:30311386 NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443
JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 1:100,538,066...100,554,105
Ensembl chr 1:100,537,900...100,554,488
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Squint ClinVar PMID:32581362 NCBI chr18:28,067,476...28,302,008
Ensembl chr18:28,067,484...28,301,863
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
JBrowse link
G Sox5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868, PMID:30311386 NCBI chr 4:178,062,267...179,031,991
Ensembl chr 4:178,066,165...178,441,547
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr17:24,653,342...24,670,457
Ensembl chr17:24,654,902...24,670,457
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:10508989, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, 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 Tusc3 tumor suppressor candidate 3 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:23806237, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr16:56,248,125...56,396,491
Ensembl chr16:56,247,659...56,396,502
JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Squint 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 Ubtf upstream binding transcription factor ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr10:90,250,275...90,265,772
Ensembl chr10:90,250,275...90,265,017
JBrowse link
G Zdhhc9 zinc finger DHHC-type palmitoyltransferase 9 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr  X:135,005,171...135,041,207
Ensembl chr  X:135,005,123...135,041,027
JBrowse link
tarsal-carpal coalition syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nog noggin ISO ClinVar Annotator: match by term: Tarsal carpal coalition syndrome
DNA:missense mutation:cds:c.682T>G (p.C228G)(human)
ClinVar Annotator: match by OMIM:186570
OMIM
ClinVar
PMID:4019538, PMID:7557985, PMID:10080184, PMID:11545688, PMID:17245852, PMID:25741868, PMID:26211601 RGD:12801450 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      eye disease 2664
        refractive error 231
          hyperopia 70
            Euhidrotic Ectodermal Dysplasia 0
            Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies 0
            Nanophthalmos 1 1
            Nanophthalmos 4 1
            high hyperopia 1
            strabismus + 59
            tarsal-carpal coalition syndrome + 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
            refractive error 231
              hyperopia 70
                Euhidrotic Ectodermal Dysplasia 0
                Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies 0
                Nanophthalmos 1 1
                Nanophthalmos 4 1
                high hyperopia 1
                strabismus + 59
                tarsal-carpal coalition syndrome + 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.