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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:strabismus
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Accession:DOID:540 term browser browse the term
Definition:A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object. (DO)
Synonyms:exact_synonym: Comitant Strabismus;   Convergent Comitant Strabismus;   Noncomitant Strabismus;   Phoria;   phorias;   squint
 narrow_synonym: CONGENITAL STRABISMUS
 related_synonym: STBMS1;   strabismus, susceptibility to;   strabismus, susceptibility to, 1
 primary_id: MESH:D013285
 alt_id: OMIM:185100
 xref: ICD10CM:H50.8;   ICD9CM:378.7
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
strabismus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC005064.1 novel transcript, antisense to RELN and SLC26A5 IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 7:103,445,207...103,514,007
Ensembl chr 7:103,445,207...103,514,007
JBrowse link
G AHCTF1 AT-hook containing transcription factor 1 IAGP ClinVar Annotator: match by term: Squint ClinVar NCBI chr 1:246,839,098...246,931,948
Ensembl chr 1:246,839,098...246,931,967
Ensembl chr 1:246,839,098...246,931,967
JBrowse link
G ATXN7L3-AS1 ATXN7L3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr17:44,198,737...44,223,703 JBrowse link
G BMP4 bone morphogenetic protein 4 IEP RGD PMID:14710472 RGD:8699500 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 1:102,876,473...103,108,580
Ensembl chr 1:102,876,467...103,108,872
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Squint ClinVar PMID:25741868 PMID:30311386 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 2:227,164,589...227,314,792
Ensembl chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792
JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 9:134,641,789...134,844,843
Ensembl chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
JBrowse link
G CTNND1 catenin delta 1 IAGP ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr11:57,761,802...57,819,540
Ensembl chr11:57,753,243...57,819,546
JBrowse link
G EIF4A1 eukaryotic translation initiation factor 4A1 IAGP ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr17:7,572,825...7,579,006
Ensembl chr17:7,572,824...7,579,006
Ensembl chr17:7,572,824...7,579,006
JBrowse link
G FOXP1 forkhead box P1 IAGP ClinVar Annotator: match by term: Squint ClinVar PMID:25741868 NCBI chr 3:70,954,708...71,583,983
Ensembl chr 3:70,952,817...71,583,993
Ensembl chr 3:70,952,817...71,583,993
Ensembl chr 3:70,952,817...71,583,993
JBrowse link
G GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by term: Squint ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:30194818 PMID:32963807 NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,891,117
JBrowse link
G GRHL3 grainyhead like transcription factor 3 IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 1:24,319,333...24,364,482
Ensembl chr 1:24,319,322...24,364,482
Ensembl chr 1:24,319,322...24,364,482
JBrowse link
G LOC107986211 translation initiation factor IF-2 IAGP ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 4:751,830...765,221 JBrowse link
G LSM1 LSM1 homolog, mRNA degradation associated IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 PMID:31010896 NCBI chr 8:38,163,321...38,176,730
Ensembl chr 8:38,163,335...38,176,730
JBrowse link
G MED13L mediator complex subunit 13L IAGP ClinVar Annotator: match by term: Squint ClinVar PMID:25741868 NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693
Ensembl chr12:115,957,905...116,277,693
JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711
JBrowse link
G MITF melanocyte inducing transcription factor IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,464...69,968,336
Ensembl chr 3:69,739,464...69,968,336
JBrowse link
G MYH3 myosin heavy chain 3 IAGP ClinVar Annotator: match by term: Congenital strabismus ClinVar PMID:30311386 NCBI chr17:10,628,527...10,678,347
Ensembl chr17:10,628,526...10,657,309
JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,277...36,388,067
Ensembl chr22:36,281,277...36,388,067
JBrowse link
G NEK1 NIMA related kinase 1 IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 4:169,392,809...169,612,629
Ensembl chr 4:169,392,857...169,612,629
Ensembl chr 4:169,392,857...169,612,629
JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Squint ClinVar PMID:21520333 PMID:28492532 PMID:30311386 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G OLFM3 olfactomedin 3 IAGP ClinVar Annotator: match by term: Susceptibility to strabismus ClinVar NCBI chr 1:101,800,028...101,996,926
Ensembl chr 1:101,802,574...101,997,030
Ensembl chr 1:101,802,574...101,997,030
JBrowse link
G PCGF3 polycomb group ring finger 3 IAGP ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 4:705,832...770,980
Ensembl chr 4:705,748...770,640
JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
JBrowse link
G PDHX pyruvate dehydrogenase complex component X IAGP ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr11:34,915,829...34,996,128
Ensembl chr11:34,915,829...35,020,591
JBrowse link
G PMM2 phosphomannomutase 2 IAGP ClinVar Annotator: match by term: Squint ClinVar PMID:19862844 PMID:21541725 PMID:28492532 PMID:30311386 NCBI chr16:8,797,813...8,849,326
Ensembl chr16:8,788,823...8,849,325
JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr19:50,384,291...50,418,018
Ensembl chr19:50,384,204...50,418,018
JBrowse link
G RELN reelin IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,784...103,989,658
JBrowse link
G SENP3-EIF4A1 SENP3-EIF4A1 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr17:7,561,992...7,579,006
Ensembl chr17:7,563,287...7,578,715
JBrowse link
G SIL1 SIL1 nucleotide exchange factor IAGP ClinVar Annotator: match by term: Squint ClinVar PMID:32581362 NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr19:10,960,999...11,062,277
Ensembl chr19:10,960,932...11,079,426
Ensembl chr19:10,960,932...11,079,426
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,981,549...39,124,345
Ensembl chr 2:38,981,549...39,124,345
JBrowse link
G SOX5 SRY-box transcription factor 5 IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 PMID:30311386 NCBI chr12:23,529,499...24,562,701
Ensembl chr12:23,529,504...24,562,544
JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP ClinVar Annotator: match by term: Squint ClinVar PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26865513 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027
JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 6:10,396,677...10,419,897
Ensembl chr 6:10,393,186...10,419,659
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 3:30,606,472...30,694,142
Ensembl chr 3:30,606,601...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
G TMX2-CTNND1 TMX2-CTNND1 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr11:57,712,523...57,819,180
Ensembl chr11:57,712,605...57,791,586
JBrowse link
G UBTF upstream binding transcription factor IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr17:44,205,036...44,221,304
Ensembl chr17:44,205,033...44,221,626
JBrowse link
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr  X:129,803,288...129,843,886
Ensembl chr  X:129,803,288...129,843,909
JBrowse link
3MC syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COLEC11 collectin subfamily member 11 IAGP
EXP
ClinVar Annotator: match by term: Carnevale syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644
JBrowse link
G MASP1 mannan binding lectin serine peptidase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 3:187,217,282...187,293,529
Ensembl chr 3:187,217,285...187,292,022
Ensembl chr 3:187,217,285...187,292,022
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP 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 chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
Ensembl chr 5:149,960,758...149,993,455
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 IAGP ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar
OMIM
PMID:11295558 PMID:25558065 PMID:25574841 PMID:30311386 NCBI chr 7:100,107,070...100,127,208
Ensembl chr 7:100,107,070...100,119,841
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 IAGP
EXP
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 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137
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 IAGP 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 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137
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 IAGP ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr 3:139,355,595...139,389,680
Ensembl chr 3:139,355,600...139,389,680
Ensembl chr 3:139,355,600...139,389,680
JBrowse link
G FOXL2 forkhead box L2 IAGP
EXP
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
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 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137
JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 IAGP ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,357,223
JBrowse link
Duane retraction syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHN1 chimerin 1 IAGP
EXP
ClinVar Annotator: match by term: Duane's syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,799,313...175,005,381
Ensembl chr 2:174,799,313...175,005,381
JBrowse link
G MAFB MAF bZIP transcription factor B EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP
EXP
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 chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
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 IAGP ClinVar Annotator: match by term: Duane syndrome type 1 ClinVar PMID:27181683 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
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 IAGP 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:25741868 PMID:28492532 NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,799,313...175,005,381
Ensembl chr 2:174,799,313...175,005,381
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 IAGP ClinVar Annotator: match by term: Duane syndrome type 3
ClinVar Annotator: match by term: Duane retraction syndrome 3 with or without deafness
ClinVar
OMIM
PMID:27181683 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
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 IAGP ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:30311386 NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506
JBrowse link
G CENPJ centromere protein J IAGP ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:25741868 PMID:30311386 NCBI chr13:24,882,279...24,922,889
Ensembl chr13:24,882,279...24,922,889
JBrowse link
G GLDC glycine decarboxylase IAGP ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:16450403 PMID:30311386 NCBI chr 9:6,532,467...6,645,729
Ensembl chr 9:6,532,464...6,645,783
Ensembl chr 9:6,532,464...6,645,783
JBrowse link
G KIF1B kinesin family member 1B IAGP ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
JBrowse link
G PLEC plectin IAGP ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:28492532 PMID:30311386 NCBI chr 8:143,915,153...143,976,800
Ensembl chr 8:143,915,147...143,976,734
Ensembl chr 8:143,915,147...143,976,734
JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP 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 chr13:50,909,678...50,970,462
Ensembl chr13:50,909,747...51,024,120
Ensembl chr13:50,909,747...51,024,120
JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:30311386 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:25741868 NCBI chr 6:10,396,677...10,419,897
Ensembl chr 6:10,393,186...10,419,659
JBrowse link
G TTC8 tetratricopeptide repeat domain 8 IAGP ClinVar Annotator: match by term: Esodeviation ClinVar PMID:16308660 PMID:21044901 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078
JBrowse link
G TYR tyrosinase IAGP ClinVar Annotator: match by term: Esodeviation ClinVar PMID:1899321 PMID:17952075 PMID:17999355 PMID:25741868 PMID:30311386 NCBI chr11:89,177,565...89,295,759
Ensembl chr11:89,177,875...89,295,759
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 IAGP ClinVar Annotator: match by term: Mental retardation, anterior maxillary protrusion, and strabismus ClinVar
OMIM
PMID:17618476 PMID:21035105 PMID:25741868 NCBI chr 6:107,490,104...107,661,306
Ensembl chr 6:107,490,106...107,661,306
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18952
    sensory system disease 5792
      eye disease 3061
        ocular motility disease 200
          strabismus 60
            3MC syndrome 2 3
            Alazami-Yuan Syndrome 1
            Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 0
            Duane retraction syndrome + 6
            Hemifacial Hyperplasia with Strabismus 0
            Krauss Herman Holmes Syndrome 0
            MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS 1
            McPherson Robertson Cammarano Syndrome 0
            Mehes Syndrome 0
            Ptosis, Strabismus, and Ectopic Pupils 0
            Singh Chhaparwal Dhanda Syndrome 0
            Van Bogaert-Hozay Syndrome 0
            binocular vision disease + 0
            conjugate gaze palsy 0
            cyclotropia 0
            esotropia + 10
            exotropia + 0
            hypertropia 0
            hypotropia 0
            intermittent squint 0
            internuclear ophthalmoplegia 0
            mechanical strabismus + 0
            monofixation syndrome 0
            paralytic squint + 0
Path 2
Term Annotations click to browse term
  disease 18952
    disease of anatomical entity 17438
      nervous system disease 13527
        peripheral nervous system disease 2707
          neuropathy 2525
            cranial nerve disease 514
              ocular motility disease 200
                strabismus 60
                  3MC syndrome 2 3
                  Alazami-Yuan Syndrome 1
                  Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 0
                  Duane retraction syndrome + 6
                  Hemifacial Hyperplasia with Strabismus 0
                  Krauss Herman Holmes Syndrome 0
                  MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS 1
                  McPherson Robertson Cammarano Syndrome 0
                  Mehes Syndrome 0
                  Ptosis, Strabismus, and Ectopic Pupils 0
                  Singh Chhaparwal Dhanda Syndrome 0
                  Van Bogaert-Hozay Syndrome 0
                  binocular vision disease + 0
                  conjugate gaze palsy 0
                  cyclotropia 0
                  esotropia + 10
                  exotropia + 0
                  hypertropia 0
                  hypotropia 0
                  intermittent squint 0
                  internuclear ophthalmoplegia 0
                  mechanical strabismus + 0
                  monofixation syndrome 0
                  paralytic squint + 0
paths to the root