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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:refractive error
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Accession:DOID:9835 term browser browse the term
Definition:Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus.
Synonyms:exact_synonym: ametropia;   ametropias;   refractive disorder;   refractive disorders;   refractive errors
 xref: HP:0000539;   ICD10CM:H52.7;   MESH:D012030;   MONDO:0004892;   NCI:C87145


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refractive error term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actc1 actin, alpha, cardiac muscle 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20835239 NCBI chr 3:121,266,291...121,271,827
Ensembl chr 3:121,266,291...121,271,827 		JBrowse link
G Gjd2 gap junction protein, delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20835239 NCBI chr 3:121,226,372...121,229,367
Ensembl chr 3:121,226,368...121,230,603 		JBrowse link
G Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20835236 NCBI chr 8:99,324,986...99,454,099
Ensembl chr 8:99,324,749...99,454,089 		JBrowse link
3MC syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3MC syndrome 2 | ClinVar Annotator: match by term: COLEC11-related condition 		OMIM
CTD
ClinVar		 PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 More... NCBI chr 6:50,952,357...50,984,845
Ensembl chr 6:50,952,357...50,999,493 		JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:90,839,081...90,909,922
Ensembl chr11:90,839,061...90,917,470 		JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: OSA syndrome ClinVar PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 More... NCBI chr18:56,918,662...56,937,032
Ensembl chr18:56,923,337...56,937,012 		JBrowse link
Alazami-Yuan Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32017898 More... NCBI chr 2:218,672,145...218,687,332
Ensembl chr 2:218,672,208...218,687,308 		JBrowse link
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition OMIM
ClinVar		 PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532 NCBI chr12:22,169,570...22,178,031
Ensembl chr12:22,168,718...22,177,938 		JBrowse link
anisometropia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:9286463 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330 		JBrowse link
astigmatism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Astigmatism ClinVar NCBI chr19:67,848,836...68,007,491
Ensembl chr19:67,848,844...68,007,491 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Astigmatism ClinVar PMID:25741868 PMID:28377535 PMID:28492532 PMID:34160719 NCBI chr 4:170,297,811...170,775,420
Ensembl chr 4:170,322,617...170,773,570 		JBrowse link
G Mcm7 minichromosome maintenance complex component 7 ISO ClinVar Annotator: match by term: Astigmatism ClinVar PMID:25741868 PMID:33654309 NCBI chr12:22,155,921...22,163,320
Ensembl chr12:22,155,921...22,163,771 		JBrowse link
G Sclt1 sodium channel and clathrin linker 1 ISO ClinVar Annotator: match by term: Astigmatism ClinVar NCBI chr 2:126,533,436...126,691,879
Ensembl chr 2:126,533,560...126,691,971 		JBrowse link
G Slc9a6 solute carrier family 9 member A6 ISO ClinVar Annotator: match by term: Astigmatism ClinVar PMID:25741868 NCBI chr  X:139,468,045...139,524,111
Ensembl chr  X:139,458,127...139,524,109 		JBrowse link
Blepharophimosis Syndrome Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl2 forkhead box L2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | ClinVar Annotator: match by term: BPES with ovarian failure 		CTD
ClinVar		 PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... NCBI chr 8:108,392,466...108,395,553
Ensembl chr 8:108,382,872...108,396,835 		JBrowse link
Blepharophimosis Syndrome Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II | ClinVar Annotator: match by term: BPES without ovarian failure ClinVar PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... NCBI chr 8:108,392,466...108,395,553
Ensembl chr 8:108,382,872...108,396,835 		JBrowse link
blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl2 forkhead box L2 ISO
ISS 		DNA:mutations:multiple (human)
ClinVar Annotator: match by term: BPES with Duane retraction syndrome | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome | ClinVar Annotator: match by term: FOXL2-related condition
OMIM:110100
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 More... RGD:1598958 NCBI chr 8:108,392,466...108,395,553
Ensembl chr 8:108,382,872...108,396,835 		JBrowse link
BROWN SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mafb MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Brown syndrome ClinVar PMID:25741868 PMID:39033378 NCBI chr 3:169,417,890...169,419,810
Ensembl chr 3:169,416,945...169,419,975 		JBrowse link
G Togaram1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Brown syndrome ClinVar PMID:25741868 PMID:39033378 NCBI chr 6:88,755,264...88,819,599
Ensembl chr 6:88,755,264...88,819,598 		JBrowse link
G Tubb4a tubulin, beta 4A class IVa ISO ClinVar Annotator: match by term: Brown syndrome ClinVar PMID:25741868 PMID:39033378 NCBI chr 9:2,004,836...2,012,281
Ensembl chr 9:2,004,840...2,012,286 		JBrowse link
Cohen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: VPS13B-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:69,246,301...69,306,483
Ensembl chr 7:69,246,582...69,306,482 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: PEPPER SYNDROME | ClinVar Annotator: match by term: Pepper syndrome | ClinVar Annotator: match by term: VPS13B-related condition
OMIM:216550 		OMIM
CTD
ClinVar
MouseDO		 PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 More... NCBI chr 7:68,436,996...69,013,574
Ensembl chr 7:68,443,655...69,013,574 		JBrowse link
congenital stationary night blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:12515255 PMID:25741868 PMID:28041643 NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:212,755,803...212,986,729 		JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive | ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:210,857,223...210,872,431
Ensembl chr 1:210,858,133...210,862,632 		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)
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:9662399 PMID:9662400 PMID:11281458 PMID:12111638 PMID:17525176 More... RGD:734671, RGD:13782370 NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:17,539,920...17,568,308 		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 Gnat1 G protein subunit alpha transducin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant 		CTD
ClinVar		 PMID:25741868 NCBI chr 8:117,229,575...117,234,311
Ensembl chr 8:117,229,575...117,234,311 		JBrowse link
G Gnb3 G protein subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:159,325,741...159,331,443
Ensembl chr 4:159,325,742...159,331,445 		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:25741868 PMID:28041643 More... NCBI chr10:82,820,954...82,836,833
Ensembl chr10:82,821,113...82,836,833 		JBrowse link
G Grk1 G protein-coupled receptor kinase 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:30718709 NCBI chr16:82,821,184...82,837,971
Ensembl chr16:82,826,022...82,837,971 		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:15781871 PMID:16249515 PMID:16622103 PMID:17405131 PMID:19666700 More... NCBI chr10:35,669,003...35,683,729
Ensembl chr10:35,669,003...35,683,729 		JBrowse link
G Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive 		CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 2:221,011,458...221,034,568
Ensembl chr 2:221,011,595...221,031,747 		JBrowse link
G Nlrp9 NLR family, pyrin domain containing 9 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:25741868 NCBI chr 1:77,320,034...77,370,366
Ensembl chr 1:77,319,218...77,378,658 		JBrowse link
G Nyx nyctalopin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness | ClinVar Annotator: match by term: Hemeralopia-myopia | ClinVar Annotator: match by term: X-linked congenital stationary night blindness 		CTD
ClinVar		 PMID:17392683 PMID:23406521 PMID:25307992 PMID:25741868 PMID:28492532 More... NCBI chr  X:11,953,680...11,974,716
Ensembl chr  X:11,953,018...11,974,810 		JBrowse link
G Pde6b phosphodiesterase 6B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant | ClinVar Annotator: match by term: Congenital stationary night blindness 		CTD
ClinVar		 PMID:8075643 PMID:28492532 PMID:30718709 NCBI chr14:1,468,302...1,511,435
Ensembl chr14:1,468,302...1,511,435 		JBrowse link
G Rho rhodopsin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant 		CTD
ClinVar		 PMID:8358437 PMID:25741868 PMID:28492532 NCBI chr 4:150,653,205...150,658,367
Ensembl chr 4:150,653,205...150,658,367 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:25741868 PMID:28492532 PMID:36909829 NCBI chr 1:142,718,262...142,731,621
Ensembl chr 1:142,718,262...142,731,621 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:28041643 NCBI chr  X:15,238,961...15,299,004
Ensembl chr  X:15,239,159...15,298,999 		JBrowse link
G Sag S-antigen visual arrestin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7670478 NCBI chr 9:95,915,640...95,956,641
Ensembl chr 9:95,917,197...95,956,507 		JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive 		CTD
ClinVar		 PMID:28492532 NCBI chr 8:74,334,556...74,361,313
Ensembl chr 8:74,335,053...74,361,268 		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, Recessive | ClinVar Annotator: match by term: Congenital stationary night blindness
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:deletion, missense mutations:cds:multiple (human) 		ClinVar
CTD
RGD		 PMID:9536098 PMID:17576681 PMID:19878917 PMID:19896113 PMID:19966281 More... RGD:7175555, RGD:7183085, RGD:7183084 NCBI chr 1:127,130,686...127,247,219
Ensembl chr 1:127,130,686...127,247,391 		JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO DNA:mutations:multiple (human) RGD PMID:19878917 RGD:7175555 NCBI chr10:58,382,054...58,413,657
Ensembl chr10:58,382,054...58,411,800 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 More... NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
congenital stationary night blindness 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nyx nyctalopin ISO
ISS 		OMIM:310500
ClinVar Annotator: match by term: Congenital stationary night blindness 1A | ClinVar Annotator: match by term: NYX-related condition 		OMIM
MouseDO
ClinVar		 PMID:11062471 PMID:11062472 PMID:16670814 PMID:17392683 PMID:19578023 More... NCBI chr  X:11,953,680...11,974,716
Ensembl chr  X:11,953,018...11,974,810 		JBrowse link
congenital stationary night blindness 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1B ClinVar PMID:25741868 NCBI chr10:82,820,954...82,836,833
Ensembl chr10:82,821,113...82,836,833 		JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO
ISS 		ClinVar Annotator: match by term: Congenital stationary night blindness 1B | ClinVar Annotator: match by term: GRM6-related condition
OMIM:257270 		OMIM
ClinVar
MouseDO		 PMID:15781871 PMID:16249515 PMID:16622103 PMID:17405131 PMID:19578023 More... NCBI chr10:35,669,003...35,683,729
Ensembl chr10:35,669,003...35,683,729 		JBrowse link
congenital stationary night blindness 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1C ClinVar PMID:25741868 NCBI chr 8:117,229,575...117,234,311
Ensembl chr 8:117,229,575...117,234,311 		JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1C ClinVar PMID:25741868 NCBI chr10:35,669,003...35,683,729
Ensembl chr10:35,669,003...35,683,729 		JBrowse link
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1C ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:11,953,680...11,974,716
Ensembl chr  X:11,953,018...11,974,810 		JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO
ISS 		ClinVar Annotator: match by term: Congenital stationary night blindness 1C | ClinVar Annotator: match by term: TRPM1-related condition
OMIM:613216 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19436059 PMID:19878917 More... NCBI chr 1:127,130,686...127,247,219
Ensembl chr 1:127,130,686...127,247,391 		JBrowse link
congenital stationary night blindness 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc24a1 solute carrier family 24 member 1 ISO
ISS 		ClinVar Annotator: match by term: Congenital stationary night blindness 1D | ClinVar Annotator: match by term: SLC24A1-related condition
OMIM:613830 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:12037007 PMID:16199547 PMID:17576681 PMID:20850105 More... NCBI chr 8:74,334,556...74,361,313
Ensembl chr 8:74,335,053...74,361,268 		JBrowse link
congenital stationary night blindness 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr179 G protein-coupled receptor 179 ISO
ISS 		ClinVar Annotator: match by term: Congenital stationary night blindness 1E | ClinVar Annotator: match by term: GPR179-related condition
OMIM:614565 		OMIM
ClinVar
MouseDO		 PMID:22325361 PMID:22325362 PMID:23714322 PMID:24033266 PMID:24222301 More... NCBI chr10:82,820,954...82,836,833
Ensembl chr10:82,821,113...82,836,833 		JBrowse link
congenital stationary night blindness 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 ISO
ISS 		ClinVar Annotator: match by term: Congenital stationary night blindness 1F | ClinVar Annotator: match by term: LRIT3-related condition
OMIM:615058 		OMIM
ClinVar
MouseDO		 PMID:22673519 PMID:23246293 PMID:24598786 PMID:25741868 PMID:28492532 More... NCBI chr 2:221,011,458...221,034,568
Ensembl chr 2:221,011,595...221,031,747 		JBrowse link
congenital stationary night blindness 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1G | ClinVar Annotator: match by term: GNAT1-related condition OMIM
ClinVar		 PMID:9536098 PMID:11095744 PMID:17576681 PMID:22190596 PMID:25741868 More... NCBI chr 8:117,229,575...117,234,311
Ensembl chr 8:117,229,575...117,234,311 		JBrowse link
congenital stationary night blindness 1H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnb3 G protein subunit beta 3 susceptibility ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1H | ClinVar Annotator: match by term: GNB3-related condition ClinVar
OMIM		 PMID:25741868 PMID:27063057 PMID:28492532 PMID:31589614 PMID:31964843 More... NCBI chr 4:159,325,741...159,331,443
Ensembl chr 4:159,325,742...159,331,445 		JBrowse link
Congenital Stationary Night Blindness 1I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy2e guanylate cyclase 2E ISO ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1I OMIM
ClinVar		 PMID:8944027 PMID:9683616 PMID:10766140 PMID:10951519 PMID:11035546 More... NCBI chr10:54,453,753...54,478,639
Ensembl chr10:54,457,844...54,472,898 		JBrowse link
congenital stationary night blindness 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO
ISS 		ClinVar Annotator: match by term: Congenital stationary night blindness 2A | ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A, severe | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2
OMIM:300071 		OMIM
ClinVar
MouseDO		 PMID:9529339 PMID:9662399 PMID:9662400 PMID:10900517 PMID:11281458 More... NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:17,539,920...17,568,308 		JBrowse link
Congenital Stationary Night Blindness 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: CABP4-related condition | ClinVar Annotator: match by term: Cone-rod synaptic disorder, congenital nonprogressive OMIM
ClinVar		 PMID:16960802 PMID:19074807 PMID:20157620 PMID:23099293 PMID:23714322 More... NCBI chr 1:210,857,223...210,872,431
Ensembl chr 1:210,858,133...210,862,632 		JBrowse link
G Rims2 regulating synaptic membrane exocytosis 2 ISO ClinVar Annotator: match by term: Cone-rod synaptic disorder, congenital nonprogressive ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:32470375 NCBI chr 7:72,133,004...72,644,059
Ensembl chr 7:72,133,170...72,645,499 		JBrowse link
congenital stationary night blindness autosomal dominant 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rho rhodopsin ISO
ISS 		ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 1 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, RHODOPSIN-RELATED
OMIM:610445
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:1418997 PMID:1987955 PMID:1987956 PMID:2137202 PMID:2239971 More... NCBI chr 4:150,653,205...150,658,367
Ensembl chr 4:150,653,205...150,658,367 		JBrowse link
congenital stationary night blindness autosomal dominant 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6b phosphodiesterase 6B ISO
ISS 		ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 2
OMIM:163500
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:7724547 PMID:8394174 PMID:8595886 PMID:9536098 PMID:16199547 More... NCBI chr14:1,468,302...1,511,435
Ensembl chr14:1,468,302...1,511,435 		JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 2 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, RAMBUSCH TYPE ClinVar PMID:12037007 PMID:20850105 PMID:25741868 PMID:26822852 PMID:28492532 More... NCBI chr 8:74,334,556...74,361,313
Ensembl chr 8:74,335,053...74,361,268 		JBrowse link
congenital stationary night blindness autosomal dominant 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 3 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, NOUGARET TYPE
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8673138 PMID:11095744 PMID:17584859 PMID:25741868 PMID:28492532 More... NCBI chr 8:117,229,575...117,234,311
Ensembl chr 8:117,229,575...117,234,311 		JBrowse link
conjugate gaze palsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Conjugate gaze palsy ClinVar PMID:15105459 PMID:16525029 PMID:21850172 PMID:25741868 PMID:32373565 More... NCBI chr 8:45,322,323...45,340,466
Ensembl chr 8:45,323,344...45,340,222 		JBrowse link
degenerative myopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp2 LDL receptor related protein 2 ISS MouseDO NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:74,597,148...74,754,535 		JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:multiple (human) RGD PMID:11864433 PMID:10887689 RGD:7421542, RGD:7483572 NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,598,475...4,604,118 		JBrowse link
Donnai-Barrow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Donnai-Barrow syndrome ClinVar PMID:19136951 PMID:25741868 PMID:28492532 NCBI chr 9:34,592,723...34,674,425
Ensembl chr 9:34,577,616...34,674,428 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO
ISS 		ClinVar Annotator: match by term: DBS/FOAR SYNDROME | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: FACIOOCULOACOUSTICORENAL SYNDROME | ClinVar Annotator: match by term: LRP2-related condition
OMIM:222448
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 More... NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:74,597,148...74,754,535 		JBrowse link
Duane retraction syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actr1b actin related protein 1B ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr 9:46,424,677...46,434,341
Ensembl chr 9:46,424,678...46,434,341 		JBrowse link
G Chn1 chimerin 1 ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Duane retraction syndrome
OMIM:126800 | OMIM:604356 		CTD
ClinVar
MouseDO		 PMID:25741868 NCBI chr 3:78,917,329...79,084,040
Ensembl chr 3:78,917,329...79,084,197 		JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:7695699 PMID:8218237 PMID:11167698 PMID:19344236 PMID:21448560 More... NCBI chr 8:118,483,364...118,515,736
Ensembl chr 8:118,483,364...118,517,439 		JBrowse link
G Cux1 cut-like homeobox 1 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr12:25,728,393...26,062,497
Ensembl chr12:25,743,733...26,062,497 		JBrowse link
G Fer FER tyrosine kinase ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr 9:110,967,317...111,274,315
Ensembl chr 9:110,967,390...111,274,315 		JBrowse link
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 PMID:39033378 NCBI chr 8:108,392,466...108,395,553
Ensembl chr 8:108,382,872...108,396,835 		JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Duane anomaly | ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:183,503,243...183,554,536 		JBrowse link
G Kif5c kinesin family member 5C ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr 3:54,441,266...54,591,630
Ensembl chr 3:54,441,310...54,594,813 		JBrowse link
G Mafb MAF bZIP transcription factor B ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:126800 | OMIM:604356 		CTD
MouseDO		 NCBI chr 3:169,417,890...169,419,810
Ensembl chr 3:169,416,945...169,419,975 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 PMID:28492532 PMID:39033378 NCBI chr12:41,026,079...41,085,577
Ensembl chr12:41,043,785...41,085,577 		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
RGD		 PMID:16402211 PMID:30067223 PMID:12393809 PMID:26791099 PMID:12395297 More... RGD:11556210, RGD:11532205, RGD:11556232, RGD:11556231, RGD:11556215, RGD:11556211 NCBI chr 3:177,891,705...177,909,743
Ensembl chr 3:177,891,705...177,909,743 		JBrowse link
G Tuba8 tubulin, alpha 8 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 PMID:39033378 NCBI chr 4:156,110,562...156,129,065
Ensembl chr 4:156,111,964...156,141,436 		JBrowse link
Duane retraction syndrome 1 term browser
Symbol Object Name Qualifiers 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 3:169,417,890...169,419,810
Ensembl chr 3:169,416,945...169,419,975 		JBrowse link
Duane retraction syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: CHN1-related condition | ClinVar Annotator: match by term: Duane retraction syndrome 2 OMIM
ClinVar		 PMID:10577917 PMID:10942112 PMID:17197532 PMID:18653847 PMID:20535495 More... NCBI chr 3:78,917,329...79,084,040
Ensembl chr 3:78,917,329...79,084,197 		JBrowse link
Duane retraction syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mafb MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Duane retraction syndrome 3 | ClinVar Annotator: match by term: Duane retraction syndrome 3 with or without deafness OMIM
ClinVar		 PMID:20436469 PMID:24989131 PMID:25741868 PMID:27181683 PMID:28492532 NCBI chr 3:169,417,890...169,419,810
Ensembl chr 3:169,416,945...169,419,975 		JBrowse link
esotropia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Esotropia ClinVar PMID:25741868 NCBI chr17:24,230,064...24,253,219
Ensembl chr17:24,229,910...24,253,219 		JBrowse link
exotropia term browser
Symbol Object Name Qualifiers 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: concomitant exotropia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:29,739,138...30,830,386
Ensembl chr12:29,740,523...30,830,386 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:211,614,195...211,633,504
Ensembl chr 1:211,615,533...211,633,468 		JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:28492532 NCBI chr19:51,303,414...51,353,900
Ensembl chr19:51,300,083...51,354,257 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:28492532 NCBI chr16:84,749,672...84,885,520
Ensembl chr16:84,749,672...84,885,520 		JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar NCBI chr 1:116,009,681...116,243,888
Ensembl chr 1:116,040,736...116,243,884 		JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:24033266 PMID:26467025 PMID:28492532 PMID:29799290 PMID:30311386 NCBI chr18:73,093,142...73,245,784
Ensembl chr18:73,093,142...73,245,784 		JBrowse link
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:130,522,607...130,538,273
Ensembl chr 8:130,521,459...130,571,943 		JBrowse link
GARG-MISHRA PROGEROID SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tomm7 translocase of outer mitochondrial membrane 7 ISO ClinVar Annotator: match by term: Garg-Mishra progeroid syndrome OMIM
ClinVar		 PMID:36282599 PMID:36299998 PMID:39615461 NCBI chr 4:12,197,503...12,204,344
Ensembl chr 4:12,197,491...12,204,343 		JBrowse link
Hamamy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irx5 iroquois homeobox 5 ISO ClinVar Annotator: match by term: Hamamy syndrome | ClinVar Annotator: match by term: IRX5-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:17230486 PMID:22581230 PMID:25741868 PMID:28492532 PMID:34899143 NCBI chr19:30,812,033...30,816,885
Ensembl chr19:30,797,202...30,815,029 		JBrowse link
High Hyperopia term browser
Symbol Object Name Qualifiers 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 8:53,342,483...53,347,696
Ensembl chr 8:53,342,534...53,347,861 		JBrowse link
High Myopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 5:72,473,676...72,596,563
Ensembl chr 5:72,473,676...72,596,473 		JBrowse link
G Ablim2 actin binding LIM protein family, member 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr14:79,090,046...79,214,986
Ensembl chr14:79,090,923...79,214,972 		JBrowse link
G Aebp1 AE binding protein 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr14:84,951,577...84,962,840
Ensembl chr14:84,952,822...84,962,843 		JBrowse link
G Aldh1l1 aldehyde dehydrogenase 1 family, member L1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 4:124,617,182...124,663,674
Ensembl chr 4:124,617,217...124,664,704 		JBrowse link
G Anapc1 anaphase promoting complex subunit 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 3:136,303,350...136,383,464
Ensembl chr 3:136,303,413...136,383,464 		JBrowse link
G Ankmy2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 6:58,616,251...58,657,634
Ensembl chr 6:58,615,243...58,657,685 		JBrowse link
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:17,207,315...17,222,975
Ensembl chr12:17,207,315...17,222,467 		JBrowse link
G Atat1 alpha tubulin acetyltransferase 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr20:2,849,399...2,862,614
Ensembl chr20:2,849,421...2,862,389 		JBrowse link
G Cd109 CD109 molecule ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 8:88,334,736...88,449,463
Ensembl chr 8:88,334,736...88,449,462 		JBrowse link
G Ciao3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr10:15,300,403...15,309,467
Ensembl chr10:15,300,471...15,309,468 		JBrowse link
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:24814191 PMID:25741868 PMID:25803036 NCBI chr 1:256,472,648...256,518,857
Ensembl chr 1:256,472,648...256,518,851 		JBrowse link
G Col1a1 collagen type I alpha 1 chain susceptibility
no_association 		ISO DNA:snps:5' utr, intron:g.-2116T>G, g.-1482G>C, IVS11+80T>G (rs1107946, rs2269336, rs2075555) (human)
DNA:snps:5' utr, intron:g.-1482G>C, IVS11+80T>G (rs2269336, rs2075555) (human) 		RGD PMID:17557158 PMID:18836165 RGD:8552654, RGD:8552655 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		JBrowse link
G Col2a1 collagen type II alpha 1 chain severity ISO DNA:snps:multiple (human) RGD PMID:19387081 RGD:8657342 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
G Dut deoxyuridine triphosphatase ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 3:132,952,258...132,963,433
Ensembl chr 3:132,952,394...132,964,956 		JBrowse link
G Egflam EGF-like, fibronectin type III and laminin G domains ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 2:58,029,934...58,204,010
Ensembl chr 2:58,029,935...58,203,643 		JBrowse link
G Elavl4 ELAV like RNA binding protein 4 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 5:130,285,418...130,429,106
Ensembl chr 5:130,285,418...130,429,096 		JBrowse link
G Eml6 EMAP like 6 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:33729517 PMID:35081682 PMID:36543923 NCBI chr14:107,651,893...108,006,792
Ensembl chr14:107,699,400...108,005,409 		JBrowse link
G Epha8 Eph receptor A8 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 5:154,449,566...154,476,966
Ensembl chr 5:154,449,566...154,476,966 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:7611299 PMID:8894692 PMID:9401003 PMID:9536098 PMID:10464652 More... NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:28492532 NCBI chr18:53,696,197...53,901,992
Ensembl chr18:53,697,708...53,902,191 		JBrowse link
G Fhip1a FHF complex subunit HOOK interacting protein 1A ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 2:173,319,252...173,489,514
Ensembl chr 2:173,319,257...173,453,902 		JBrowse link
G Flii FLII, actin remodeling protein ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr10:45,893,566...45,907,547
Ensembl chr10:45,893,572...45,907,491 		JBrowse link
G Fuca2 alpha-L-fucosidase 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 1:9,706,121...9,720,910
Ensembl chr 1:9,706,094...9,721,706 		JBrowse link
G Gna14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 1:223,141,802...223,324,210
Ensembl chr 1:223,141,802...223,324,210 		JBrowse link
G Grb7 growth factor receptor bound protein 7 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr10:83,936,538...83,949,344
Ensembl chr10:83,939,299...83,949,382 		JBrowse link
G Hmx2 H6 family homeobox 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 1:195,749,284...195,758,347
Ensembl chr 1:195,749,284...195,756,945 		JBrowse link
G Hsd17b14 hydroxysteroid (17-beta) dehydrogenase 14 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 1:105,165,695...105,176,045
Ensembl chr 1:105,165,695...105,176,510 		JBrowse link
G Ifit1 interferon-induced protein with tetratricopeptide repeats 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 1:241,565,197...241,567,262
Ensembl chr 1:241,543,184...241,568,148 		JBrowse link
G Il1rap interleukin 1 receptor accessory protein ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:25741868 NCBI chr11:87,567,813...87,704,346
Ensembl chr11:87,575,116...87,704,342 		JBrowse link
G Il36b interleukin 36, beta ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 3:27,422,980...27,521,344
Ensembl chr 3:27,423,171...27,428,678 		JBrowse link
G Ina internexin neuronal intermediate filament protein, alpha ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 1:255,838,129...255,849,680
Ensembl chr 1:255,838,129...255,849,680 		JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:25741868 PMID:26422291 PMID:28492532 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,572,049...32,615,192 		JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:28492532 NCBI chr 3:187,647,904...187,695,974
Ensembl chr 3:187,647,904...187,696,173 		JBrowse link
G Lgmn legumain ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 6:127,308,913...127,347,355
Ensembl chr 6:127,308,913...127,347,328 		JBrowse link
G Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr12:27,663,177...27,697,085
Ensembl chr12:27,663,018...27,697,209 		JBrowse link
G LOC100910814 keratin-associated protein 9-1-like ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr10:85,320,070...85,320,624 JBrowse link
G Lrp1b LDL receptor related protein 1B ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 3:45,004,001...47,125,147
Ensembl chr 3:45,004,689...45,957,692 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:17632512 PMID:25682901 PMID:25741868 PMID:28492532 NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:74,597,148...74,754,535 		JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 2:185,884,840...185,912,532
Ensembl chr 2:185,908,168...185,938,782 		JBrowse link
G Neil2 nei-like DNA glycosylase 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr15:41,620,650...41,631,551
Ensembl chr15:41,621,352...41,630,834 		JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:28492532 NCBI chr 2:226,689,745...226,805,897
Ensembl chr 2:226,689,745...226,783,088 		JBrowse link
G Nrcam neuronal cell adhesion molecule ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 6:67,129,723...67,425,510
Ensembl chr 6:67,129,801...67,430,539 		JBrowse link
G Pax6 paired box 6 susceptibility ISO DNA:snp, haplotype:3' utr:c.*2160G>A (rs12421026) (human)
DNA:snp:intron:IVS11+393C>A (rs644242) (human)
DNA:snps:intron:IVS13+43T>G, IVS13-1101A>G (rs3026393, rs3026390) (human) 		RGD PMID:21589860 PMID:23213273 PMID:19124844 RGD:8552263, RGD:8552307, RGD:8552290 NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:112,590,391...112,611,763 		JBrowse link
G Paxbp1 PAX3 and PAX7 binding protein 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr11:43,758,116...43,787,624
Ensembl chr11:43,758,116...43,787,542 		JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:25741868 NCBI chr 5:126,440,102...126,462,507
Ensembl chr 5:126,440,102...126,462,507 		JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:28492532 NCBI chr14:1,468,302...1,511,435
Ensembl chr14:1,468,302...1,511,435 		JBrowse link
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 9:63,470,023...63,538,772
Ensembl chr 9:63,470,024...63,538,772 		JBrowse link
G Pgs1 phosphatidylglycerophosphate synthase 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr10:103,713,306...103,748,924
Ensembl chr10:103,713,316...103,749,233 		JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:28492532 NCBI chr 3:173,647,104...173,656,269
Ensembl chr 3:173,641,900...173,656,268 		JBrowse link
G Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 5:125,036,945...125,109,010
Ensembl chr 5:125,042,179...125,108,324 		JBrowse link
G Prpf38b pre-mRNA processing factor 38B ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 2:199,241,312...199,250,342
Ensembl chr 2:199,241,313...199,250,338 		JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:28492532 PMID:32077105 NCBI chr 1:222,623,553...222,646,187
Ensembl chr 1:222,623,556...222,655,693 		JBrowse link
G Ptprz1 protein tyrosine phosphatase, receptor type Z1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 4:52,363,006...52,560,905
Ensembl chr 4:52,363,295...52,560,903 		JBrowse link
G Pygm glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:25741868 PMID:28492532 PMID:29881221 NCBI chr 1:213,119,805...213,134,622
Ensembl chr 1:213,119,791...213,134,612 		JBrowse link
G Rabepk Rab9 effector protein with kelch motifs ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 3:38,460,205...38,481,077
Ensembl chr 3:38,460,206...38,480,688 		JBrowse link
G Ralgapb Ral GTPase activating protein non-catalytic subunit beta ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 3:167,482,344...167,571,975
Ensembl chr 3:167,482,343...167,571,815 		JBrowse link
G Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 ISO DNA:snp:intron:IVS1+7218 (human) RGD PMID:24150758 RGD:10003136 NCBI chr 8:99,324,986...99,454,099
Ensembl chr 8:99,324,749...99,454,089 		JBrowse link
G Rpl4 ribosomal protein L4 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 8:73,566,477...73,571,600
Ensembl chr 8:73,566,466...73,571,788 		JBrowse link
G Sema3c semaphorin 3C ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 4:18,538,452...18,702,453
Ensembl chr 4:18,538,454...18,701,740 		JBrowse link
G Sipa1l2 signal-induced proliferation-associated 1 like 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr19:70,287,134...70,437,810
Ensembl chr19:70,287,147...70,437,773 		JBrowse link
G Slc22a5 solute carrier family 22 member 5 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:18673259 PMID:25741868 PMID:26633542 PMID:26828774 PMID:28074886 More... NCBI chr10:38,509,072...38,536,240
Ensembl chr10:38,509,072...38,536,077 		JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 3:36,106,448...36,139,812
Ensembl chr 3:36,106,449...36,140,011 		JBrowse link
G Slc28a1 solute carrier family 28 member 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 1:144,490,453...144,532,025
Ensembl chr 1:144,490,623...144,531,544 		JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 5:171,465,222...171,493,317
Ensembl chr 5:171,475,386...171,493,315 		JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:9536098 PMID:15286788 PMID:17576681 PMID:18484095 PMID:25741868 More... NCBI chr 1:31,414,744...31,434,932
Ensembl chr 1:31,414,744...31,433,517 		JBrowse link
G Sntg2 syntrophin, gamma 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 6:52,529,481...52,730,972
Ensembl chr 6:52,529,481...52,730,972 		JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 8:37,798,994...37,839,881
Ensembl chr 8:37,798,995...37,855,652 		JBrowse link
G Stac2 SH3 and cysteine rich domain 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr10:83,528,741...83,544,583
Ensembl chr10:83,528,741...83,544,583 		JBrowse link
G Wdr36 WD repeat domain 36 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:25741868 PMID:28492532 NCBI chr18:24,747,812...24,783,704
Ensembl chr18:24,747,832...24,783,110 		JBrowse link
G Zc3h13 zinc finger CCCH type containing 13 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr15:57,016,686...57,081,201
Ensembl chr15:57,016,781...57,081,201 		JBrowse link
G Zfp446 zinc finger protein 446 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 1:82,673,920...82,680,414
Ensembl chr 1:82,673,918...82,685,430 		JBrowse link
G Zfp536 zinc finger protein 536 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 1:99,137,133...99,600,379
Ensembl chr 1:99,137,133...99,599,043 		JBrowse link
G Zfp692 zinc finger protein 692 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr10:42,988,946...42,997,009
Ensembl chr10:42,988,938...42,997,015 		JBrowse link
High Myopia with Cataract and Vitreoretinal Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P3h2 prolyl 3-hydroxylase 2 ISO ClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degeneration | ClinVar Annotator: match by term: P3H2-related condition OMIM
ClinVar		 PMID:21885030 PMID:24172257 PMID:25469533 PMID:25741868 PMID:28492532 More... NCBI chr11:88,139,086...88,280,221
Ensembl chr11:88,139,078...88,281,203 		JBrowse link
high myopia-sensorineural deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slitrk6 SLIT and NTRK-like family, member 6 ISO
ISS 		ClinVar Annotator: match by term: Deafness and myopia | ClinVar Annotator: match by term: High myopia-sensorineural deafness syndrome | ClinVar Annotator: match by term: SLITRK6-related condition
OMIM:221200 		OMIM
ClinVar
MouseDO		 PMID:23543054 PMID:23946138 PMID:24033266 PMID:25363768 PMID:25741868 More... NCBI chr15:93,977,812...93,984,431
Ensembl chr15:93,969,038...93,984,526 		JBrowse link
hyperopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcna6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Hyperopia ClinVar PMID:25741868 NCBI chr 4:161,229,103...161,262,352
Ensembl chr 4:161,191,961...161,263,240 		JBrowse link
G Myrf myelin regulatory factor ISO DNA:mutations:multiple: RGD PMID:36129575 RGD:199225554 NCBI chr 1:216,279,057...216,311,155
Ensembl chr 1:216,279,057...216,311,178 		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 chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103 		JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Hypermetropia ClinVar PMID:25741868 PMID:26720483 PMID:28492532 NCBI chr 5:60,184,076...60,195,979
Ensembl chr 5:60,182,035...60,194,706 		JBrowse link
Impaired intellectual development, anterior maxillary protrusion, and strabismus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sobp sine oculis binding protein homolog ISO ClinVar Annotator: match by term: Intellectual disability, anterior maxillary protrusion, and strabismus | ClinVar Annotator: match by term: SOBP-related condition OMIM
ClinVar		 PMID:17618476 PMID:18414213 PMID:21035105 PMID:25741868 PMID:28492532 NCBI chr20:48,064,445...48,243,607
Ensembl chr20:48,064,445...48,243,607 		JBrowse link
JOINT LAXITY, SHORT STATURE, AND MYOPIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gzf1 GDNF-inducible zinc finger protein 1 ISO ClinVar Annotator: match by term: GZF1-related condition | ClinVar Annotator: match by term: Joint laxity, short stature, and myopia OMIM
ClinVar		 PMID:25741868 PMID:28475863 PMID:28492532 PMID:35802133 PMID:36633841 NCBI chr 3:156,572,152...156,584,369
Ensembl chr 3:156,572,250...156,584,363 		JBrowse link
MASS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: MASS syndrome ClinVar PMID:25741868 PMID:28492532 PMID:35296718 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: MASS PHENOTYPE | ClinVar Annotator: match by term: MASS syndrome | ClinVar Annotator: match by term: OVERLAP CONNECTIVE TISSUE DISEASE | ClinVar Annotator: match by term: Overlap connective tissue disease
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1569206 PMID:2005308 PMID:2739055 PMID:3212331 PMID:3495735 More... NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
MUGGENTHALER-CHOWDHURY-CHIOZA SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyal2 hyaluronidase 2 ISO ClinVar Annotator: match by term: HYAL2-related disorder | ClinVar Annotator: match by term: Muggenthaler-Chowdhury-Chioza syndrome OMIM
ClinVar		 PMID:25741868 PMID:26633546 PMID:28081210 PMID:28492532 PMID:34906488 NCBI chr 8:117,121,802...117,125,494
Ensembl chr 8:117,121,787...117,125,493 		JBrowse link
multiple epiphyseal dysplasia with myopia and deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Multiple epiphyseal dysplasia, Beighton type
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
myopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adora2a adenosine A2a receptor ISS OMIM:160700 | OMIM:255500 | OMIM:300613 | OMIM:310460 | OMIM:603221 | OMIM:608367 | OMIM:608474 | OMIM:608908 | OMIM:609256 | OMIM:609257 | OMIM:609258 | OMIM:609259 | OMIM:609994 | OMIM:609995 | OMIM:610320 | OMIM:612554 | OMIM:612717 | OMIM:613959 | OMIM:613969 | OMIM:614166 | OMIM:614167 | OMIM:615420 | OMIM:615431 | OMIM:615946 MouseDO NCBI chr20:13,315,270...13,332,802
Ensembl chr20:13,315,270...13,332,802 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23396134 NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:141,264,646...141,274,760 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:25741868 NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:17,539,920...17,568,308 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:25741868 NCBI chr 5:26,609,245...26,792,736
Ensembl chr 5:26,609,407...26,792,734 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO mRNA:decreased expression:sclera (mouse) RGD PMID:22690110 RGD:8552656 NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		JBrowse link
G Col2a1 collagen type II alpha 1 chain susceptibility ISO DNA:snp:intron:g.IVS1-1194A>C (rs1635529) (human)
ClinVar Annotator: match by term: Myopia
associated with Stickler Syndrome, Type 1; DNA:mutations: exons:
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:9800905 PMID:17653045 PMID:22496037 PMID:25741868 PMID:27390512 More... RGD:8657390, RGD:12436723 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16909383 NCBI chr 9:34,081,364...34,164,552
Ensembl chr 9:34,003,905...34,164,543 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:25741868 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:28492532 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Gjd2 gap junction protein, delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23396134 NCBI chr 3:121,226,372...121,229,367
Ensembl chr 3:121,226,368...121,230,603 		JBrowse link
G Gria4 glutamate ionotropic receptor AMPA type subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23396134 NCBI chr 8:9,845,421...10,320,021
Ensembl chr 8:9,847,052...10,319,881 		JBrowse link
G Hgf hepatocyte growth factor no_association
susceptibility 		ISO DNA:SNP: : rs3735520(human)
DNA:SNPs,haplotypes:multiple: 		RGD PMID:16723436 PMID:19060265 PMID:19471602 RGD:1642706, RGD:8548600, RGD:8548542 NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:19,632,267...19,700,851 		JBrowse link
G Igf1 insulin-like growth factor 1 susceptibility
no_association 		ISO DNA:haplotype: :rs12423791,rs7956547,rs5742632(human)
DNA:SNP,haplotype: : rs12423791,rs5742629(human)
DNA:SNPS: :rs10860860, rs2946834,rs6214(human) 		RGD PMID:22332214 PMID:22509095 PMID:21976954 PMID:20435602 RGD:8548827, RGD:8548838, RGD:8548829, RGD:8548828 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr19:30,812,033...30,816,885
Ensembl chr19:30,797,202...30,815,029 		JBrowse link
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23396134 NCBI chr 9:31,326,595...31,892,399
Ensembl chr 9:31,329,497...31,891,304 		JBrowse link
G Lama2 laminin subunit alpha 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs12205363(human) 		CTD
RGD		 PMID:23396134 PMID:27611182 RGD:13605610 NCBI chr 1:19,492,126...20,140,056
Ensembl chr 1:19,244,599...20,140,056 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO DNA:SNPs:cds, introns:multiple RGD PMID:20484597 RGD:8549731 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856 		JBrowse link
G P3h2 prolyl 3-hydroxylase 2 ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:25741868 NCBI chr11:88,139,086...88,280,221
Ensembl chr11:88,139,078...88,281,203 		JBrowse link
G Parl presenilin associated, rhomboid-like ISO DNA:snp:intron:c.511+3941G>A (rs6775202)(human) RGD PMID:18846214 RGD:12902630 NCBI chr11:94,097,559...94,124,915
Ensembl chr11:94,097,934...94,148,287 		JBrowse link
G Prss56 serine protease 56 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23396134 NCBI chr 9:95,289,984...95,307,877
Ensembl chr 9:95,302,772...95,307,877 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		JBrowse link
G Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23396134 NCBI chr 8:99,324,986...99,454,099
Ensembl chr 8:99,324,749...99,454,089 		JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23396134 NCBI chr 7:1,912,120...1,931,836
Ensembl chr 7:1,925,335...1,936,049 		JBrowse link
G Six6 SIX homeobox 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23396134 NCBI chr 6:97,357,883...97,375,415
Ensembl chr 6:97,370,435...97,375,415 		JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 More... NCBI chr16:52,805,521...52,809,316
Ensembl chr16:52,805,523...52,811,700 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:97,495,229...97,504,279
Ensembl chr 3:97,495,229...97,505,052 		JBrowse link
G Tnc tenascin C ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:25741868 NCBI chr 5:82,391,340...82,476,197
Ensembl chr 5:82,391,340...82,476,131 		JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:7704033 PMID:7955413 PMID:9163730 PMID:13680365 PMID:15381243 More... NCBI chr 1:150,527,687...150,622,857
Ensembl chr 1:150,527,687...150,622,857 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNP:exon:c.2T>C (human) RGD PMID:21897619 RGD:8157620 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:15141358 PMID:16199547 PMID:16648375 PMID:20461111 PMID:24334764 More... NCBI chr 7:68,436,996...69,013,574
Ensembl chr 7:68,443,655...69,013,574 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:25741868 PMID:28492532 NCBI chr19:67,190,901...67,232,569
Ensembl chr19:67,190,901...67,232,569 		JBrowse link
Myopia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO ClinVar Annotator: match by term: Myopia 2, autosomal dominant ClinVar NCBI chr10:86,011,504...86,018,063
Ensembl chr10:86,011,495...86,018,063 		JBrowse link
Myopia 21, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp644 zinc finger protein 644 ISO ClinVar Annotator: match by term: Myopia 21, autosomal dominant | ClinVar Annotator: match by term: ZNF644-related condition OMIM
ClinVar		 PMID:21695231 PMID:25741868 PMID:28492532 NCBI chr14:3,248,350...3,324,820
Ensembl chr14:3,249,888...3,324,820 		JBrowse link
Myopia 22, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Primpol primase and DNA directed polymerase ISO ClinVar Annotator: match by term: Myopia 22, autosomal dominant | ClinVar Annotator: match by term: PRIMPOL-related condition OMIM
ClinVar		 PMID:23579484 PMID:25741868 PMID:28492532 NCBI chr16:52,413,894...52,450,975
Ensembl chr16:52,413,935...52,450,950 		JBrowse link
Myopia 23, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrpap1 LDL receptor related protein associated protein 1 ISO ClinVar Annotator: match by term: LRPAP1-related condition | ClinVar Annotator: match by term: Myopia 23, autosomal recessive | ClinVar Annotator: match by term: Rare isolated myopia OMIM
ClinVar		 PMID:23830514 PMID:24033266 PMID:25525168 PMID:25741868 PMID:26271838 More... NCBI chr14:79,876,002...79,888,011
Ensembl chr14:79,875,708...79,890,034 		JBrowse link
G P3h2 prolyl 3-hydroxylase 2 ISO ClinVar Annotator: match by term: Rare isolated myopia ClinVar PMID:24172257 PMID:25469533 PMID:25741868 PMID:28492532 NCBI chr11:88,139,086...88,280,221
Ensembl chr11:88,139,078...88,281,203 		JBrowse link
Myopia 24, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a5 solute carrier family 39 member 5 ISO ClinVar Annotator: match by term: Myopia 24, autosomal dominant | ClinVar Annotator: match by term: SLC39A5-related condition OMIM
ClinVar		 PMID:24891338 PMID:25741868 PMID:28492532 NCBI chr 7:1,409,360...1,415,407
Ensembl chr 7:1,409,360...1,414,784 		JBrowse link
Myopia 25, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4ha2 prolyl 4-hydroxylase subunit alpha 2 ISO ClinVar Annotator: match by term: Myopia 25, autosomal dominant | ClinVar Annotator: match by term: P4HA2-related condition OMIM
ClinVar		 PMID:25741866 PMID:25741868 PMID:28492532 NCBI chr10:38,743,894...38,772,741
Ensembl chr10:38,743,894...38,772,993 		JBrowse link
Myopia 26, X-Linked, Female-Limited term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arr3 arrestin 3 ISO ClinVar Annotator: match by term: ARR3-related condition | ClinVar Annotator: match by term: Myopia 26, X-linked, female-limited OMIM
ClinVar		 PMID:25741868 PMID:27829781 PMID:28492532 PMID:33482870 NCBI chr  X:69,739,959...69,752,300
Ensembl chr  X:69,739,760...69,752,200 		JBrowse link
Myopia 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpsf1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: Myopia 27 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30689892 NCBI chr 7:110,200,078...110,210,644
Ensembl chr 7:110,199,066...110,210,644 		JBrowse link
Myopia 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Loxl3 lysyl oxidase-like 3 ISO ClinVar Annotator: match by term: LOXL3-related condition | ClinVar Annotator: match by term: Myopia 28, autosomal recessive OMIM
ClinVar		 PMID:25663169 PMID:25741868 PMID:28492532 PMID:30362103 PMID:32531858 More... NCBI chr 4:117,098,358...117,114,673
Ensembl chr 4:117,099,635...117,115,046 		JBrowse link
Nanophthalmos 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Nanophthalmos 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9792868 PMID:31048900 PMID:31266062 NCBI chr 1:216,279,057...216,311,155
Ensembl chr 1:216,279,057...216,311,178 		JBrowse link
Nanophthalmos 4 term browser
Symbol Object Name Qualifiers 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 chr10:66,293,895...66,304,806
Ensembl chr10:66,293,867...66,304,803 		JBrowse link
Oguchi disease-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Congenital stationary night blindness Oguchi type 1 | ClinVar Annotator: match by term: Oguchi disease-1 OMIM
ClinVar		 PMID:9452120 PMID:9536098 PMID:15234147 PMID:17576681 PMID:21151602 More... NCBI chr 9:95,915,640...95,956,641
Ensembl chr 9:95,917,197...95,956,507 		JBrowse link
Oguchi disease-2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grk1 G protein-coupled receptor kinase 1 ISO
ISS 		ClinVar Annotator: match by term: Oguchi disease-2
OMIM:613411 		OMIM
ClinVar
MouseDO		 PMID:9020843 PMID:9419375 PMID:16319817 PMID:17070587 PMID:17765441 More... NCBI chr16:82,821,184...82,837,971
Ensembl chr16:82,826,022...82,837,971 		JBrowse link
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Oguchi disease-2 ClinVar PMID:9452120 PMID:15234147 PMID:21151602 PMID:22419846 PMID:22665972 More... NCBI chr 9:95,915,640...95,956,641
Ensembl chr 9:95,917,197...95,956,507 		JBrowse link
strabismus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahctf1 AT hook containing transcription factor 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar NCBI chr13:94,013,894...94,068,348
Ensembl chr13:94,014,469...94,068,058 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:14710472 RGD:8699500 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr 4:133,117,346...133,808,647
Ensembl chr 4:133,122,055...133,500,272 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:171,357,797...171,424,488 		JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr12:43,468,556...43,665,819
Ensembl chr12:43,468,556...43,665,819 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29089047 PMID:33471991 NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,804,266...65,034,946 		JBrowse link
G Olfm3 olfactomedin 3 ISO ClinVar Annotator: match by term: Strabismus, susceptibility to ClinVar NCBI chr 2:205,417,962...205,640,479
Ensembl chr 2:205,598,959...205,640,479 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:15985475 PMID:17020470 PMID:17546245 PMID:18470943 PMID:19077116 More... NCBI chr12:41,026,079...41,085,577
Ensembl chr12:41,043,785...41,085,577 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:28,443,810...28,535,070 		JBrowse link
G Sox5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr 4:178,512,272...179,467,686
Ensembl chr 4:178,512,272...178,938,495 		JBrowse link
tarsal-carpal coalition syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nog noggin ISO ClinVar Annotator: match by term: Tarsal-carpal coalition syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:c.682T>G (p.C228G)(human) 		OMIM
ClinVar
CTD
RGD		 PMID:4019538 PMID:7557985 PMID:10080184 PMID:11545688 PMID:16576087 More... RGD:12801450 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    sensory system disease 4800
      eye disease 2086
        refractive error 190
          Corneal Wavefront Aberration 0
          aniseikonia 0
          anisometropia 1
          astigmatism + 5
          hyperopia + 45
          myopia + 138
          presbyopia 0
          transient refractive change 0
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        Neurologic Manifestations 5934
          sensory system disease 4800
            eye disease 2086
              refractive error 190
                Corneal Wavefront Aberration 0
                aniseikonia 0
                anisometropia 1
                astigmatism + 5
                hyperopia + 45
                myopia + 138
                presbyopia 0
                transient refractive change 0
paths to the root