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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:myopia
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Accession:DOID:11830 term browser browse the term
Definition:A refractive error characterized by the inability to see farther objects clearly. (DO)
Synonyms:exact_synonym: myopias;   near vision;   near-sightedness;   nearsightedness;   short-sightedness
 primary_id: MESH:D009216
 xref: EFO:0003927;   ICD10CM:H52.1;   ICD9CM:367.1;   MONDO:0001384;   NCI:C102533;   OMIM:PS160700
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
myopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adora2a adenosine A2a receptor ISO 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 chrNW_004955455:7,886,720...7,906,214
Ensembl chrNW_004955455:7,895,974...7,906,505 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23396134 NCBI chrNW_004955415:17,048,374...17,058,172
Ensembl chrNW_004955415:17,048,030...17,060,181 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:25741868 NCBI chrNW_004955543:692,035...717,364
Ensembl chrNW_004955543:692,035...717,364 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:25741868 NCBI chrNW_004955444:17,859,999...18,067,623
Ensembl chrNW_004955444:17,858,771...18,067,248 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO mRNA:decreased expression:sclera (mouse) RGD PMID:22690110 RGD:8552656 NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073 		JBrowse link
G Col2a1 collagen type II alpha 1 chain susceptibility ISO associated with Stickler Syndrome, Type 1; DNA:mutations: exons:
ClinVar Annotator: match by term: Myopia		 RGD
ClinVar		 PMID:9800905 PMID:18276201 PMID:22496037 PMID:25741868 PMID:27390512 More... RGD:12436723 NCBI chrNW_004955500:6,860,771...6,885,466
Ensembl chrNW_004955500:6,860,771...6,885,473 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16909383 NCBI chrNW_004955488:5,296,895...5,384,940
Ensembl chrNW_004955488:5,296,895...5,384,940 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:25741868 NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:28492532 NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232 		JBrowse link
G Gjd2 gap junction protein delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23396134 NCBI chrNW_004955416:2,104,985...2,134,937
Ensembl chrNW_004955416:2,104,985...2,134,937 		JBrowse link
G Gria4 glutamate ionotropic receptor AMPA type subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23396134 NCBI chrNW_004955412:8,306,187...8,644,156
Ensembl chrNW_004955412:8,307,091...8,644,598 		JBrowse link
G Hgf hepatocyte growth factor susceptibility
no_association		 ISO DNA:SNPs,haplotypes:multiple:
DNA:SNP: : rs3735520(human)
Han Chinese population		 RGD PMID:16723436 PMID:19060265 PMID:19471602 RGD:1642706 RGD:8548542 RGD:8548600 NCBI chrNW_004955410:4,114,280...4,181,953
Ensembl chrNW_004955410:4,114,778...4,182,058 		JBrowse link
G Igf1 insulin like growth factor 1 susceptibility
no_association		 ISO DNA:SNP,haplotype: : rs12423791,rs5742629(human)
DNA:SNPS: :rs10860860, rs2946834,rs6214(human)
DNA:haplotype: :rs12423791,rs7956547,rs5742632(human)		 RGD PMID:20435602 PMID:21976954 PMID:22332214 PMID:22509095 RGD:8548827 RGD:8548828 RGD:8548829 RGD:8548838 NCBI chrNW_004955405:37,505,830...37,582,152
Ensembl chrNW_004955405:37,512,201...37,582,152 		JBrowse link
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chrNW_004955433:12,518,786...12,522,744
Ensembl chrNW_004955433:12,519,338...12,522,118 		JBrowse link
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23396134 NCBI chrNW_004955488:7,406,633...7,928,526
Ensembl chrNW_004955488:7,406,635...7,927,532 		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 chrNW_004955436:9,829,777...10,400,101
Ensembl chrNW_004955436:9,830,030...10,399,891 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO DNA:SNPs:cds, introns:multiple RGD PMID:20484597 RGD:8549731 NCBI chrNW_004955433:13,024,844...13,050,041
Ensembl chrNW_004955433:13,024,418...13,052,775 		JBrowse link
G Parl presenilin associated rhomboid like ISO DNA:snp:intron:c.511+3941G>A (rs6775202)(human) RGD PMID:18846214 RGD:12902630 NCBI chrNW_004955420:23,549,125...23,581,782
Ensembl chrNW_004955420:23,548,672...23,582,137 		JBrowse link
G Prss56 serine protease 56 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23396134 NCBI chrNW_004955453:3,440,871...3,446,090
Ensembl chrNW_004955453:3,441,109...3,446,090 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622 		JBrowse link
G Rasgrf1 Ras protein specific guanine nucleotide releasing factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23396134 NCBI chrNW_004955533:69,736...167,626
Ensembl chrNW_004955533:70,897...167,460 		JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23396134 NCBI chrNW_004955458:3,356,324...3,361,701
Ensembl chrNW_004955458:3,352,012...3,365,080 		JBrowse link
G Six6 SIX homeobox 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23396134 NCBI chrNW_004955466:9,120,227...9,122,109
Ensembl chrNW_004955466:9,120,227...9,122,109 		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 chrNW_004955403:23,878,329...23,882,322
Ensembl chrNW_004955403:23,878,329...23,882,322 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955422:845,076...852,772
Ensembl chrNW_004955422:845,678...852,772 		JBrowse link
G Tnc tenascin C ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:25741868 NCBI chrNW_004955419:12,569,620...12,662,897
Ensembl chrNW_004955419:12,569,547...12,662,958 		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 chrNW_004955414:4,244,035...4,314,001
Ensembl chrNW_004955414:4,244,035...4,314,001 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNP:exon:c.2T>C (human) RGD PMID:21897619 RGD:8157620 NCBI chrNW_004955500:6,745,725...6,798,052
Ensembl chrNW_004955500:6,745,678...6,798,048 		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 chrNW_004955417:14,570,399...15,228,106
Ensembl chrNW_004955417:14,570,904...15,227,877 		JBrowse link
G Znf469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955541:2,404,549...2,438,183 JBrowse link
Cohen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd46 ankyrin repeat domain 46 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:15,740,108...15,750,627 JBrowse link
G Atp6v1c1 ATPase H+ transporting V1 subunit C1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:27,340,916...27,376,541
Ensembl chrNW_004955417:27,356,483...27,375,747 		JBrowse link
G Azin1 antizyme inhibitor 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:27,231,695...27,259,564
Ensembl chrNW_004955417:27,231,696...27,259,564 		JBrowse link
G Baalc BAALC binder of MAP3K1 and KLF4 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:27,426,764...27,436,620 JBrowse link
G Cthrc1 collagen triple helix repeat containing 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:27,520,420...27,525,907 JBrowse link
G Dcaf13 DDB1 and CUL4 associated factor 13 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:27,545,128...27,567,829
Ensembl chrNW_004955417:27,544,242...27,569,715 		JBrowse link
G Dcstamp dendrocyte expressed seven transmembrane protein ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:28,156,046...28,169,481
Ensembl chrNW_004955417:28,155,842...28,168,049 		JBrowse link
G Dpys dihydropyrimidinase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:28,183,771...28,244,309
Ensembl chrNW_004955417:28,185,407...28,244,307 		JBrowse link
G Fbxo43 F-box protein 43 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:15,394,481...15,406,751
Ensembl chrNW_004955417:15,390,969...15,406,751 		JBrowse link
G Fzd6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:27,465,730...27,493,752
Ensembl chrNW_004955417:27,465,701...27,494,790 		JBrowse link
G Grhl2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:26,401,337...26,533,297
Ensembl chrNW_004955417:26,401,363...26,533,297 		JBrowse link
G Kcns2 potassium voltage-gated channel modifier subfamily S member 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:14,076,494...14,081,556
Ensembl chrNW_004955417:14,076,521...14,077,957 		JBrowse link
G Klf10 KLF transcription factor 10 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:27,165,146...27,168,604
Ensembl chrNW_004955417:27,164,839...27,168,604 		JBrowse link
G LOC102014046 cytochrome c oxidase subunit 6C ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:15,230,562...15,241,610
Ensembl chrNW_004955417:15,230,562...15,241,610 		JBrowse link
G Lrp12 LDL receptor related protein 12 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:28,248,620...28,299,845
Ensembl chrNW_004955417:28,252,145...28,291,663 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955414:14,576,356...14,647,500
Ensembl chrNW_004955414:14,576,356...14,647,500 		JBrowse link
G Ncald neurocalcin delta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:26,535,859...26,885,944
Ensembl chrNW_004955417:26,535,859...26,563,301 		JBrowse link
G Nipal2 NIPA like domain containing 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:13,887,251...13,941,851
Ensembl chrNW_004955417:13,885,766...13,939,796 		JBrowse link
G Odf1 outer dense fiber of sperm tails 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:27,145,542...27,150,910
Ensembl chrNW_004955417:27,145,542...27,150,969 		JBrowse link
G Osr2 odd-skipped related transciption factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:14,502,450...14,510,015
Ensembl chrNW_004955417:14,502,451...14,510,160 		JBrowse link
G Pabpc1 poly(A) binding protein cytoplasmic 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:15,872,906...15,885,246
Ensembl chrNW_004955417:15,868,934...15,885,247 		JBrowse link
G Polr2k RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:15,412,527...15,416,090
Ensembl chrNW_004955417:15,412,527...15,416,090 		JBrowse link
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:13,823,027...13,856,448
Ensembl chrNW_004955417:13,823,057...13,856,448 		JBrowse link
G Rgs22 regulator of G protein signaling 22 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:15,284,368...15,381,984
Ensembl chrNW_004955417:15,282,428...15,382,842 		JBrowse link
G Rims2 regulating synaptic membrane exocytosis 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:27,748,090...28,131,431
Ensembl chrNW_004955417:27,728,428...28,128,877 		JBrowse link
G Rnf19a ring finger protein 19A, RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:15,492,056...15,543,591
Ensembl chrNW_004955417:15,492,056...15,543,591 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:26,949,686...26,976,976
Ensembl chrNW_004955417:26,949,686...26,976,726 		JBrowse link
G Slc25a32 solute carrier family 25 member 32 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:27,530,806...27,545,103
Ensembl chrNW_004955417:27,527,144...27,546,043 		JBrowse link
G Snx31 sorting nexin 31 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:15,779,500...15,835,668
Ensembl chrNW_004955417:15,778,838...15,835,733 		JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955417:15,417,604...15,482,650
Ensembl chrNW_004955417:15,421,737...15,481,797 		JBrowse link
G Stk3 serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:14,098,851...14,381,553
Ensembl chrNW_004955417:14,095,694...14,381,607 		JBrowse link
G Ubr5 ubiquitin protein ligase E3 component n-recognin 5 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:26,997,572...27,085,511
Ensembl chrNW_004955417:26,998,513...27,083,005 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition OMIM
ClinVar		 PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 More... NCBI chrNW_004955417:14,570,399...15,228,106
Ensembl chrNW_004955417:14,570,904...15,227,877 		JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:16,047,263...16,070,506
Ensembl chrNW_004955417:16,047,263...16,072,854 		JBrowse link
G Zfpm2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:28,931,428...29,268,778
Ensembl chrNW_004955417:28,920,210...29,269,271 		JBrowse link
G Znf706 zinc finger protein 706 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chrNW_004955417:16,263,846...16,268,526
Ensembl chrNW_004955417:16,263,846...16,268,527 		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:28041643 NCBI chrNW_004955423:612,098...738,702
Ensembl chrNW_004955423:612,098...736,035 		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 chrNW_004955422:18,023,639...18,028,845
Ensembl chrNW_004955422:18,023,639...18,028,845 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:9662399 PMID:9662400 PMID:11281458 PMID:12111638 PMID:17525176 More... NCBI chrNW_004955543:692,035...717,364
Ensembl chrNW_004955543:692,035...717,364 		JBrowse link
G Cd63 CD63 molecule ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:10369264 PMID:10617778 PMID:11053295 PMID:11078852 PMID:11675386 More... NCBI chrNW_004955458:3,362,511...3,363,916
Ensembl chrNW_004955458:3,362,511...3,363,981 		JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant ClinVar NCBI chrNW_004955532:2,018,850...2,023,603
Ensembl chrNW_004955532:2,018,850...2,023,603 		JBrowse link
G Gnb3 G protein subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955413:4,440,693...4,447,419
Ensembl chrNW_004955413:4,440,693...4,447,416 		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 ClinVar PMID:22325361 PMID:22325362 PMID:24033266 PMID:25741868 PMID:28041643 More... NCBI chrNW_004955451:13,545,994...13,560,231
Ensembl chrNW_004955451:13,546,236...13,560,231 		JBrowse link
G Grk1 G protein-coupled receptor kinase 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:30718709 NCBI chrNW_004955404:343,009...353,683
Ensembl chrNW_004955404:343,009...353,683 		JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:15781871 PMID:16249515 PMID:16622103 PMID:17405131 PMID:19666700 More... NCBI chrNW_004955408:1,421,132...1,432,010
Ensembl chrNW_004955408:1,421,132...1,433,622 		JBrowse link
G Lrit3 leucine rich repeat, Ig-like and transmembrane domains 3 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955496:434,236...456,239
Ensembl chrNW_004955496:434,236...456,239 		JBrowse link
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Congenital stationary night blindness | ClinVar Annotator: match by term: X-linked congenital stationary night blindness ClinVar PMID:25307992 PMID:28492532 PMID:31456290 NCBI chrNW_004955565:1,258,724...1,262,283 JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant | ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:28492532 PMID:30718709 NCBI chrNW_004955514:234,972...279,420
Ensembl chrNW_004955514:234,972...279,420 		JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:10369264 PMID:10617778 PMID:11053295 PMID:11078852 PMID:11675386 More... NCBI chrNW_004955458:3,356,324...3,361,701
Ensembl chrNW_004955458:3,352,012...3,365,080 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant ClinVar PMID:28492532 NCBI chrNW_004955429:17,787,337...17,791,982
Ensembl chrNW_004955429:17,787,337...17,791,982 		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 chrNW_004955416:15,862,510...15,873,261
Ensembl chrNW_004955416:15,862,426...15,873,327 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:28041643 NCBI chrNW_004955601:398,772...453,271 JBrowse link
G Sag S-antigen visual arrestin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7670478 NCBI chrNW_004955453:2,845,561...2,878,342
Ensembl chrNW_004955453:2,844,925...2,878,846 		JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive ClinVar PMID:28492532 NCBI chrNW_004955450:9,850,170...9,881,172
Ensembl chrNW_004955450:9,856,718...9,881,172 		JBrowse link
G Trpm1 transient receptor potential cation channel subfamily M member 1 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive | ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:9536098 PMID:17576681 PMID:19878917 PMID:19896113 PMID:19966281 More... NCBI chrNW_004955416:29,846,374...29,880,922
Ensembl chrNW_004955416:29,814,077...29,939,344 		JBrowse link
G Trpv3 transient receptor potential cation channel subfamily V member 3 ISO DNA:mutations:multiple (human) RGD PMID:19878917 RGD:7175555 NCBI chrNW_004955467:13,246,099...13,276,741
Ensembl chrNW_004955467:13,248,599...13,276,718 		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 chrNW_004955406:1,837,831...2,499,664
Ensembl chrNW_004955406:1,838,885...2,496,980 		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 ClinVar Annotator: match by term: Congenital stationary night blindness 1A | ClinVar Annotator: match by term: NYX-related condition OMIM
ClinVar		 PMID:11062471 PMID:11062472 PMID:16670814 PMID:17392683 PMID:19578023 More... NCBI chrNW_004955565:1,258,724...1,262,283 JBrowse link
congenital stationary night blindness 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grm6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1B | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE OMIM
ClinVar		 PMID:11874764 PMID:15781871 PMID:16249515 PMID:16622103 PMID:17405131 More... NCBI chrNW_004955408:1,421,132...1,432,010
Ensembl chrNW_004955408:1,421,132...1,433,622 		JBrowse link
congenital stationary night blindness 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpm1 transient receptor potential cation channel subfamily M member 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1C | ClinVar Annotator: match by term: TRPM1-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19436059 PMID:19878917 More... NCBI chrNW_004955416:29,846,374...29,880,922
Ensembl chrNW_004955416:29,814,077...29,939,344 		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 ClinVar Annotator: match by term: Congenital stationary night blindness 1D OMIM
ClinVar		 PMID:9536098 PMID:12037007 PMID:16199547 PMID:17576681 PMID:20850105 More... NCBI chrNW_004955450:9,850,170...9,881,172
Ensembl chrNW_004955450:9,856,718...9,881,172 		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 ClinVar Annotator: match by term: Congenital stationary night blindness 1E | ClinVar Annotator: match by term: GPR179-related condition OMIM
ClinVar		 PMID:22325361 PMID:22325362 PMID:23714322 PMID:24033266 PMID:24222301 More... NCBI chrNW_004955451:13,545,994...13,560,231
Ensembl chrNW_004955451:13,546,236...13,560,231 		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 ClinVar Annotator: match by term: Congenital stationary night blindness 1F OMIM
ClinVar		 PMID:22673519 PMID:23246293 PMID:25741868 PMID:28492532 NCBI chrNW_004955496:434,236...456,239
Ensembl chrNW_004955496:434,236...456,239 		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 OMIM
ClinVar		 PMID:11095744 PMID:22190596 PMID:25741868 PMID:26472407 PMID:27624628 More... NCBI chrNW_004955532:2,018,850...2,023,603
Ensembl chrNW_004955532:2,018,850...2,023,603 		JBrowse link
congenital stationary night blindness 1H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1H ClinVar PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More... NCBI chrNW_004955413:4,448,711...4,450,917
Ensembl chrNW_004955413:4,448,917...4,450,553 		JBrowse link
G Gnb3 G protein subunit beta 3 susceptibility ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1H ClinVar
OMIM		 PMID:9425898 PMID:10477144 PMID:10523525 PMID:10770297 PMID:10770309 More... NCBI chrNW_004955413:4,440,693...4,447,419
Ensembl chrNW_004955413:4,440,693...4,447,416 		JBrowse link
Congenital Stationary Night Blindness 1I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1I OMIM
ClinVar		 PMID:10766140 PMID:10951519 PMID:11328726 PMID:16505055 PMID:17724218 More... NCBI chrNW_004955467:8,938,057...8,949,684
Ensembl chrNW_004955467:8,938,057...8,949,684 		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 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
ClinVar		 PMID:9529339 PMID:9662399 PMID:9662400 PMID:10900517 PMID:11281458 More... NCBI chrNW_004955543:692,035...717,364
Ensembl chrNW_004955543:692,035...717,364 		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: Cone-rod synaptic disorder, congenital nonprogressive OMIM
ClinVar		 PMID:16960802 PMID:19074807 PMID:20157620 PMID:23099293 PMID:23714322 More... NCBI chrNW_004955422:18,023,639...18,028,845
Ensembl chrNW_004955422:18,023,639...18,028,845 		JBrowse link
G Gpr152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Cone-rod synaptic disorder, congenital nonprogressive ClinVar NCBI chrNW_004955422:18,029,704...18,034,051
Ensembl chrNW_004955422:18,029,884...18,031,610 		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 ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 1 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, RHODOPSIN-RELATED OMIM
ClinVar		 PMID:1418997 PMID:1987955 PMID:1987956 PMID:2137202 PMID:2239971 More... NCBI chrNW_004955429:17,787,337...17,791,982
Ensembl chrNW_004955429:17,787,337...17,791,982 		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 ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 2 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, RAMBUSCH TYPE OMIM
ClinVar		 PMID:7724547 PMID:8075643 PMID:8394174 PMID:8595886 PMID:9536098 More... NCBI chrNW_004955514:234,972...279,420
Ensembl chrNW_004955514:234,972...279,420 		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 OMIM
ClinVar		 PMID:8673138 PMID:11095744 PMID:17584859 PMID:25741868 PMID:26472407 More... NCBI chrNW_004955532:2,018,850...2,023,603
Ensembl chrNW_004955532:2,018,850...2,023,603 		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 ISO MouseDO NCBI chrNW_004955449:5,155,109...5,314,886
Ensembl chrNW_004955449:5,160,946...5,314,948 		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 chrNW_004955488:4,774,835...4,879,401
Ensembl chrNW_004955488:4,772,504...4,879,423 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: LRP2-related condition OMIM
ClinVar		 PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 More... NCBI chrNW_004955449:5,155,109...5,314,886
Ensembl chrNW_004955449:5,160,946...5,314,948 		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 OMIM
ClinVar		 PMID:17230486 PMID:22581230 PMID:25741868 PMID:28492532 PMID:34899143 NCBI chrNW_004955433:12,518,786...12,522,744
Ensembl chrNW_004955433:12,519,338...12,522,118 		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 chrNW_004955419:21,553,863...21,681,626
Ensembl chrNW_004955419:21,553,835...21,681,619 		JBrowse link
G Ablim2 actin binding LIM protein family member 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955514:2,800,758...2,920,926
Ensembl chrNW_004955514:2,800,802...2,919,978 		JBrowse link
G Aebp1 AE binding protein 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955456:7,860,191...7,868,526
Ensembl chrNW_004955456:7,860,414...7,868,337 		JBrowse link
G Aldh1l1 aldehyde dehydrogenase 1 family member L1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955421:21,420,264...21,506,004
Ensembl chrNW_004955421:21,420,147...21,527,037 		JBrowse link
G Anapc1 anaphase promoting complex subunit 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955470:2,182,163...2,262,804
Ensembl chrNW_004955470:2,183,766...2,262,900 		JBrowse link
G Ankmy2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955410:19,778,736...19,812,731
Ensembl chrNW_004955410:19,778,736...19,813,150 		JBrowse link
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:28492532 NCBI chrNW_004955460:10,997,554...11,009,435
Ensembl chrNW_004955460:10,996,796...11,009,525 		JBrowse link
G Atat1 alpha tubulin acetyltransferase 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955583:643,575...652,393 JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955545:2,723,780...2,739,334
Ensembl chrNW_004955545:2,723,780...2,739,450 		JBrowse link
G Cd109 CD109 molecule ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955488:9,281,407...9,378,354
Ensembl chrNW_004955488:9,281,661...9,378,490 		JBrowse link
G Ciao3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955442:16,465,759...16,475,110
Ensembl chrNW_004955442:16,465,178...16,475,110 		JBrowse link
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:24814191 PMID:25803036 NCBI chrNW_004955485:6,568,178...6,616,972 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 chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073 		JBrowse link
G Col2a1 collagen type II alpha 1 chain severity ISO DNA:snps:multiple (human) RGD PMID:19387081 RGD:8657342 NCBI chrNW_004955500:6,860,771...6,885,466
Ensembl chrNW_004955500:6,860,771...6,885,473 		JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955413:33,578,734...33,588,055
Ensembl chrNW_004955413:33,578,355...33,588,674 		JBrowse link
G Dut deoxyuridine triphosphatase ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955409:5,574,810...5,584,135
Ensembl chrNW_004955409:5,574,694...5,584,134 		JBrowse link
G Egflam EGF like, fibronectin type III and laminin G domains ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955426:22,856,515...23,030,517
Ensembl chrNW_004955426:22,856,186...23,031,029 		JBrowse link
G Elavl4 ELAV like RNA binding protein 4 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955464:8,699,142...8,847,289
Ensembl chrNW_004955464:8,699,088...8,788,878 		JBrowse link
G Epha8 EPH receptor A8 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955452:2,702,277...2,729,161
Ensembl chrNW_004955452:2,701,803...2,729,277 		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 chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955415:1,307,553...1,535,435
Ensembl chrNW_004955415:1,309,077...1,537,052 		JBrowse link
G Fhip1a FHF complex subunit HOOK interacting protein 1A ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955471:5,985,150...6,229,720
Ensembl chrNW_004955471:6,051,733...6,222,896 		JBrowse link
G Flii FLII actin remodeling protein ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955478:11,061,728...11,075,370
Ensembl chrNW_004955478:11,062,707...11,075,117 		JBrowse link
G Flrt3 fibronectin leucine rich transmembrane protein 3 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955415:23,669,749...23,683,235
Ensembl chrNW_004955415:23,669,749...23,683,235 		JBrowse link
G Fuca2 alpha-L-fucosidase 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955436:16,896,629...16,912,406
Ensembl chrNW_004955436:16,896,629...16,915,083 		JBrowse link
G Gna14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955512:1,703,750...1,918,321
Ensembl chrNW_004955512:1,707,503...1,917,513 		JBrowse link
G Grb7 growth factor receptor bound protein 7 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955451:14,463,032...14,470,392
Ensembl chrNW_004955451:14,464,541...14,474,070 		JBrowse link
G Hmx2 H6 family homeobox 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955477:1,294,479...1,302,433
Ensembl chrNW_004955477:1,294,472...1,302,505 		JBrowse link
G Hsd17b14 hydroxysteroid 17-beta dehydrogenase 14 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955559:1,775,889...1,784,598
Ensembl chrNW_004955559:1,775,971...1,784,265 		JBrowse link
G Il1rap interleukin 1 receptor accessory protein ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955420:17,463,493...17,591,054
Ensembl chrNW_004955420:17,463,852...17,591,023 		JBrowse link
G Ina internexin neuronal intermediate filament protein alpha ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955485:7,238,723...7,266,995 JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:26422291 PMID:28492532 NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583 		JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:28492532 NCBI chrNW_004955528:1,713,110...1,753,374
Ensembl chrNW_004955528:1,713,125...1,753,116 		JBrowse link
G Lgmn legumain ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955438:14,905,856...14,938,722
Ensembl chrNW_004955438:14,905,856...14,939,256 		JBrowse link
G Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955456:13,751,135...13,773,722
Ensembl chrNW_004955456:13,750,889...13,774,021 		JBrowse link
G Lrp1b LDL receptor related protein 1B ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955440:7,048,527...8,475,566
Ensembl chrNW_004955440:7,050,135...8,475,122 		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 chrNW_004955449:5,155,109...5,314,886
Ensembl chrNW_004955449:5,160,946...5,314,948 		JBrowse link
G Macrod2 mono-ADP ribosylhydrolase 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955415:23,398,409...25,239,184
Ensembl chrNW_004955415:23,398,776...25,226,450 		JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955413:238,043...243,317 JBrowse link
G Neil2 nei like DNA glycosylase 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955403:53,037,008...53,044,996
Ensembl chrNW_004955403:53,037,743...53,048,723 		JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:28492532 NCBI chrNW_004955496:5,842,734...5,950,995
Ensembl chrNW_004955496:5,842,600...5,927,885 		JBrowse link
G Nrcam neuronal cell adhesion molecule ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955410:12,437,248...12,518,083
Ensembl chrNW_004955410:12,437,248...12,518,075 		JBrowse link
G Pax6 paired box 6 susceptibility ISO DNA:snps:intron:IVS13+43T>G, IVS13-1101A>G (rs3026393, rs3026390) (human)
DNA:snp:intron:IVS11+393C>A (rs644242) (human)
DNA:snp, haplotype:3' utr:c.*2160G>A (rs12421026) (human)		 RGD PMID:19124844 PMID:21589860 PMID:23213273 RGD:8552263 RGD:8552290 RGD:8552307 NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162 		JBrowse link
G Paxbp1 PAX3 and PAX7 binding protein 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955407:32,178,837...32,210,470
Ensembl chrNW_004955407:32,179,879...32,210,352 		JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:25741868 NCBI chrNW_004955464:4,424,583...4,439,805
Ensembl chrNW_004955464:4,425,435...4,439,842 		JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:28492532 NCBI chrNW_004955514:234,972...279,420
Ensembl chrNW_004955514:234,972...279,420 		JBrowse link
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955403:3,527,398...3,582,004
Ensembl chrNW_004955403:3,527,138...3,582,004 		JBrowse link
G Pgs1 phosphatidylglycerophosphate synthase 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955506:4,160,546...4,203,474
Ensembl chrNW_004955506:4,161,933...4,203,474 		JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis class T ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:28492532 NCBI chrNW_004955445:11,916,898...11,925,578
Ensembl chrNW_004955445:11,915,225...11,925,820 		JBrowse link
G Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955464:2,996,608...3,062,197
Ensembl chrNW_004955464:3,003,837...3,062,197 		JBrowse link
G Prpf38b pre-mRNA processing factor 38B ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955435:12,162,730...12,172,136 JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:28492532 PMID:32077105 NCBI chrNW_004955512:1,132,452...1,155,405
Ensembl chrNW_004955512:1,132,390...1,155,412 		JBrowse link
G Ptprz1 protein tyrosine phosphatase receptor type Z1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955479:3,611,658...3,734,225
Ensembl chrNW_004955479:3,624,993...3,733,183 		JBrowse link
G Pygm glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955422:20,411,480...20,424,676
Ensembl chrNW_004955422:20,411,480...20,424,931 		JBrowse link
G Rabepk Rab9 effector protein with kelch motifs ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955419:3,061,838...3,096,693
Ensembl chrNW_004955419:3,061,838...3,091,020 		JBrowse link
G Ralgapb Ral GTPase activating protein non-catalytic subunit beta ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955445:18,146,316...18,241,128
Ensembl chrNW_004955445:18,140,944...18,241,128 		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 chrNW_004955533:69,736...167,626
Ensembl chrNW_004955533:70,897...167,460 		JBrowse link
G Rpl4 ribosomal protein L4 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955450:9,170,372...9,175,224
Ensembl chrNW_004955450:9,169,648...9,176,604 		JBrowse link
G Sema3c semaphorin 3C ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955410:4,795,658...4,953,460
Ensembl chrNW_004955410:4,794,477...4,954,906 		JBrowse link
G Sipa1l2 signal induced proliferation associated 1 like 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955492:6,611,430...6,709,016
Ensembl chrNW_004955492:6,534,165...6,709,135 		JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955419:621,445...656,172
Ensembl chrNW_004955419:618,979...656,189 		JBrowse link
G Slc28a1 solute carrier family 28 member 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955416:14,226,411...14,267,962
Ensembl chrNW_004955416:14,226,278...14,268,350 		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:25741868 PMID:28492532 NCBI chrNW_004955504:617,683...633,594
Ensembl chrNW_004955504:616,768...633,654 		JBrowse link
G Sntg2 syntrophin gamma 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955487:533,719...639,056
Ensembl chrNW_004955487:533,711...639,074 		JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955412:31,091,313...31,129,050
Ensembl chrNW_004955412:31,090,504...31,129,050 		JBrowse link
G Stac2 SH3 and cysteine rich domain 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955451:14,070,422...14,079,781
Ensembl chrNW_004955451:14,068,900...14,079,781 		JBrowse link
G Wdr36 WD repeat domain 36 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:28492532 NCBI chrNW_004955418:3,988,073...4,023,425
Ensembl chrNW_004955418:3,988,073...4,023,974 		JBrowse link
G Zc3h13 zinc finger CCCH-type containing 13 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955518:3,657,054...3,740,176
Ensembl chrNW_004955518:3,658,723...3,731,174 		JBrowse link
G Znf446 zinc finger protein 446 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955584:1,102,597...1,107,177
Ensembl chrNW_004955584:1,104,102...1,106,765 		JBrowse link
G Znf536 zinc finger protein 536 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955468:7,049,301...7,488,706
Ensembl chrNW_004955468:7,194,251...7,291,945 		JBrowse link
G Znf692 zinc finger protein 692 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004955418:29,910,084...29,915,013
Ensembl chrNW_004955418:29,910,252...29,915,013 		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 chrNW_004955420:17,964,153...18,118,442
Ensembl chrNW_004955420:17,964,153...18,117,095 		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 ClinVar Annotator: match by term: Deafness and myopia | ClinVar Annotator: match by term: High myopia-sensorineural deafness syndrome OMIM
ClinVar		 PMID:23543054 PMID:23946138 PMID:24033266 PMID:25363768 PMID:25741868 More... NCBI chrNW_004955404:22,738,080...22,744,601
Ensembl chrNW_004955404:22,737,974...22,745,046 		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 chrNW_004955415:30,381,153...30,391,239
Ensembl chrNW_004955415:30,384,130...30,391,298 		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 chrNW_004955500:6,860,771...6,885,466
Ensembl chrNW_004955500:6,860,771...6,885,473 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: MASS syndrome | ClinVar Annotator: match by term: Overlap connective tissue disease OMIM
ClinVar		 PMID:627879 PMID:948948 PMID:1569206 PMID:2005308 PMID:2254511 More... NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		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: Epiphyseal dysplasia, multiple, with myopia and conductive deafness | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia, Beighton type OMIM
ClinVar		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chrNW_004955500:6,860,771...6,885,466
Ensembl chrNW_004955500:6,860,771...6,885,473 		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 chrNW_004955451:16,115,137...16,119,261
Ensembl chrNW_004955451:16,114,454...16,118,622 		JBrowse link
Myopia 21, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf644 zinc finger protein 644 ISO ClinVar Annotator: match by term: Myopia 21, autosomal dominant OMIM
ClinVar		 PMID:21695231 PMID:25741868 NCBI chrNW_004955423:3,251,726...3,346,023
Ensembl chrNW_004955423:3,251,119...3,348,039 		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 OMIM
ClinVar		 PMID:23579484 NCBI chrNW_004955403:24,278,727...24,307,312
Ensembl chrNW_004955403:24,279,122...24,303,682 		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: Myopia 23, autosomal recessive | ClinVar Annotator: match by term: Rare isolated myopia OMIM
ClinVar		 PMID:23830514 PMID:24033266 PMID:25525168 PMID:25741868 PMID:26271838 NCBI chrNW_004955514:2,195,228...2,208,258
Ensembl chrNW_004955514:2,195,228...2,208,688 		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 chrNW_004955420:17,964,153...18,118,442
Ensembl chrNW_004955420:17,964,153...18,117,095 		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 OMIM
ClinVar		 PMID:24891338 PMID:25741868 NCBI chrNW_004955458:3,843,492...3,849,794
Ensembl chrNW_004955458:3,843,112...3,849,794 		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 OMIM
ClinVar		 PMID:25741866 PMID:25741868 PMID:28492532 NCBI chrNW_004955408:3,574,860...3,607,015
Ensembl chrNW_004955408:3,574,860...3,607,015 		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 chrNW_004955475:9,819,783...9,835,526
Ensembl chrNW_004955475:9,819,792...9,835,200 		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 chrNW_004955454:3,024,324...3,039,004
Ensembl chrNW_004955454:3,024,406...3,039,425 		JBrowse link
Myopia 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dok1 docking protein 1 ISO ClinVar Annotator: match by term: Myopia 28, autosomal recessive ClinVar PMID:26957899 PMID:28492532 PMID:36917121 NCBI chrNW_004955424:11,233,601...11,236,397
Ensembl chrNW_004955424:11,232,376...11,236,885 		JBrowse link
G Loxl3 lysyl oxidase like 3 ISO ClinVar Annotator: match by term: Myopia 28, autosomal recessive OMIM
ClinVar		 PMID:26957899 PMID:28492532 PMID:33456446 PMID:36917121 NCBI chrNW_004955424:11,236,415...11,255,801
Ensembl chrNW_004955424:11,236,836...11,259,570 		JBrowse link
Myopia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC106146232 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: Myopia 6 | ClinVar Annotator: match by term: Myopia, susceptibility to OMIM
ClinVar		 PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:14970747 More... NCBI chrNW_004955413:33,503,882...33,505,417 JBrowse link
G Ncaph2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Myopia 6 | ClinVar Annotator: match by term: Myopia, susceptibility to ClinVar PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:14970747 More... NCBI chrNW_004955413:33,492,348...33,503,804 JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Myopia 6 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955413:33,505,424...33,509,095
Ensembl chrNW_004955413:33,505,446...33,508,748 		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: Oguchi disease-1 OMIM
ClinVar		 PMID:9452120 PMID:15234147 PMID:21151602 PMID:22419846 PMID:22581970 More... NCBI chrNW_004955453:2,845,561...2,878,342
Ensembl chrNW_004955453:2,844,925...2,878,846 		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 ClinVar Annotator: match by term: Oguchi disease-2 OMIM
ClinVar		 PMID:9020843 PMID:9419375 PMID:16319817 PMID:17070587 PMID:17765441 More... NCBI chrNW_004955404:343,009...353,683
Ensembl chrNW_004955404:343,009...353,683 		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 chrNW_004955453:2,845,561...2,878,342
Ensembl chrNW_004955453:2,844,925...2,878,846 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6162
      eye disease 3166
        refractive error 220
          myopia 170
            Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 0
            Blepharoptosis, Myopia, and Ectopia Lentis 0
            Bornholm Eye Disease 0
            Cochlear Deafness with Myopia and Intellectual Impairment 0
            Cohen syndrome 36
            Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 0
            Donnai-Barrow syndrome 2
            Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 0
            External Ophthalmoplegia and Myopia 0
            Gastrocutaneous Syndrome 0
            Hamamy Syndrome 1
            High Myopia + 73
            Isolated Microphthalmia with Corectopia 0
            JOINT LAXITY, SHORT STATURE, AND MYOPIA 1
            MASS Syndrome 2
            Mousa Al din Al Nassar Syndrome 0
            Myopia 1 0
            Myopia 10 0
            Myopia 11 0
            Myopia 12 0
            Myopia 13 0
            Myopia 14 0
            Myopia 15 0
            Myopia 16 0
            Myopia 17, Autosomal Dominant 0
            Myopia 18, Autosomal Recessive 0
            Myopia 19, Autosomal Dominant 0
            Myopia 2 1
            Myopia 20, Autosomal Dominant 0
            Myopia 21, Autosomal Dominant 1
            Myopia 22, Autosomal Dominant 1
            Myopia 23, Autosomal Recessive 2
            Myopia 24, Autosomal Dominant 1
            Myopia 25, Autosomal Dominant 1
            Myopia 26, X-Linked, Female-Limited 1
            Myopia 27 1
            Myopia 28 2
            Myopia 3 0
            Myopia 5 0
            Myopia 6 3
            Myopia 7 0
            Myopia 8 0
            Myopia 9 0
            Night Blindness Skeletal Anomalies Unusual Facies 0
            Noble Bass Sherman Syndrome 0
            Polydactyly Myopia Syndrome 0
            Sinus Node Disease and Myopia 0
            Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 0
            congenital stationary night blindness + 24
            degenerative myopia 1
            multiple epiphyseal dysplasia with myopia and deafness 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        Neurologic Manifestations 8844
          sensory system disease 6162
            eye disease 3166
              refractive error 220
                myopia 170
                  Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 0
                  Blepharoptosis, Myopia, and Ectopia Lentis 0
                  Bornholm Eye Disease 0
                  Cochlear Deafness with Myopia and Intellectual Impairment 0
                  Cohen syndrome 36
                  Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 0
                  Donnai-Barrow syndrome 2
                  Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 0
                  External Ophthalmoplegia and Myopia 0
                  Gastrocutaneous Syndrome 0
                  Hamamy Syndrome 1
                  High Myopia + 73
                  Isolated Microphthalmia with Corectopia 0
                  JOINT LAXITY, SHORT STATURE, AND MYOPIA 1
                  MASS Syndrome 2
                  Mousa Al din Al Nassar Syndrome 0
                  Myopia 1 0
                  Myopia 10 0
                  Myopia 11 0
                  Myopia 12 0
                  Myopia 13 0
                  Myopia 14 0
                  Myopia 15 0
                  Myopia 16 0
                  Myopia 17, Autosomal Dominant 0
                  Myopia 18, Autosomal Recessive 0
                  Myopia 19, Autosomal Dominant 0
                  Myopia 2 1
                  Myopia 20, Autosomal Dominant 0
                  Myopia 21, Autosomal Dominant 1
                  Myopia 22, Autosomal Dominant 1
                  Myopia 23, Autosomal Recessive 2
                  Myopia 24, Autosomal Dominant 1
                  Myopia 25, Autosomal Dominant 1
                  Myopia 26, X-Linked, Female-Limited 1
                  Myopia 27 1
                  Myopia 28 2
                  Myopia 3 0
                  Myopia 5 0
                  Myopia 6 3
                  Myopia 7 0
                  Myopia 8 0
                  Myopia 9 0
                  Night Blindness Skeletal Anomalies Unusual Facies 0
                  Noble Bass Sherman Syndrome 0
                  Polydactyly Myopia Syndrome 0
                  Sinus Node Disease and Myopia 0
                  Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 0
                  congenital stationary night blindness + 24
                  degenerative myopia 1
                  multiple epiphyseal dysplasia with myopia and deafness 1
paths to the root