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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 in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness.
Synonyms:exact_synonym: myopias;   near vision;   near-sightedness;   nearsightedness;   short-sightedness
 primary_id: MESH:D009216
 xref: ICD10CM:H52.1;   ICD9CM:367.1;   NCI:C102533;   OMIM:PS160700
For additional species annotation, visit the Alliance of Genome Resources.


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 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 chr20:14,265,251...14,282,873
Ensembl chr20:14,265,252...14,282,873
JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23396134 NCBI chr 3:126,335,963...126,346,771
Ensembl chr 3:126,335,863...126,346,318
JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:25741868 NCBI chr  X:15,712,709...15,741,135
Ensembl chr  X:15,712,713...15,741,103
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:25741868 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO mRNA:decreased expression:sclera (mouse) RGD PMID:22690110 RGD:8552656 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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
PMID:9800905 PMID:17653045 PMID:22496037 PMID:25741868 PMID:27390512 PMID:28018693 PMID:28492532 PMID:28983407, PMID:17653045, PMID:18276201 RGD:8657390, RGD:12436723 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16909383 NCBI chr 9:30,419,001...30,502,307
Ensembl chr 9:30,419,001...30,502,298
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:25741868 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Gjd2 gap junction protein, delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23396134 NCBI chr 3:105,467,480...105,470,475
Ensembl chr 3:105,467,480...105,470,475
JBrowse link
G Gria4 glutamate ionotropic receptor AMPA type subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23396134 NCBI chr 8:1,548,145...2,045,874
Ensembl chr 8:1,548,146...2,045,817
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 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
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 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr19:16,415,813...16,421,088
Ensembl chr19:16,415,636...16,421,191
JBrowse link
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23396134 NCBI chr 9:27,565,869...28,141,114
Ensembl chr 9:27,562,959...27,761,733
JBrowse link
G Lama2 laminin subunit alpha 2 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs12205363(human)
CTD PMID:23396134, PMID:27611182 RGD:13605610 NCBI chr 1:18,491,264...19,143,486
Ensembl chr 1:18,491,384...19,143,269
JBrowse link
G Lrpap1 LDL receptor related protein associated protein 1 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 chr14:80,911,281...80,923,290
Ensembl chr14:80,911,270...80,924,831
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO DNA:SNPs:cds, introns:multiple RGD PMID:20484597 RGD:8549731 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Parl presenilin associated, rhomboid-like ISO DNA:snp:intron:c.511+3941G>A (rs6775202)(human) RGD PMID:18846214 RGD:12902630 NCBI chr11:84,517,368...84,544,463
Ensembl chr11:84,517,368...84,544,462
JBrowse link
G Primpol primase and DNA directed polymerase 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 chr16:48,863,385...48,900,409
Ensembl chr16:48,863,418...48,897,795
JBrowse link
G Prss56 serine protease 56 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23396134 NCBI chr 9:94,278,981...94,284,111
Ensembl chr 9:94,279,155...94,283,919
JBrowse link
G Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23396134 NCBI chr 8:97,277,250...97,405,095
Ensembl chr 8:97,277,456...97,405,102
JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23396134 NCBI chr 7:3,335,681...3,342,573
Ensembl chr 7:3,335,742...3,342,491
JBrowse link
G Six6 SIX homeobox 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23396134 NCBI chr 6:95,816,749...95,821,729
Ensembl chr 6:95,816,749...95,821,729
JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:16155110 PMID:25741868 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698
JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:79,884,524...79,892,664
Ensembl chr 3:79,884,524...79,892,429
JBrowse link
G Slc39a5 solute carrier family 39 member 5 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 chr 7:2,813,875...2,819,917
Ensembl chr 7:2,813,875...2,819,299
JBrowse link
G Tnc tenascin C ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:25741868 NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNP:exon:c.2T>C (human) RGD PMID:21897619 RGD:8157620 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:32581362 NCBI chr 7:74,118,834...74,722,341
Ensembl chr 7:75,852,610...75,858,812
JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Myopia ClinVar PMID:25741868 NCBI chr19:54,843,864...55,083,935 JBrowse link
G Zfp644 zinc finger protein 644 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 chr14:4,125,368...4,200,332
Ensembl chr14:4,125,380...4,200,328
JBrowse link
Cohen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir875 microRNA 875 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:28492532 NCBI chr 7:74,423,233...74,423,305
Ensembl chr 7:74,423,233...74,423,305
JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cohen syndrome
ClinVar Annotator: match by term: Pepper syndrome
ClinVar Annotator: match by OMIM:216550
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 PMID:15173253 PMID:15211651 PMID:15498460 PMID:15691367 PMID:16648375 PMID:16917849 PMID:17383910 PMID:17576681 PMID:17786118 PMID:17990063 PMID:18414213 PMID:18655112 PMID:19006247 PMID:19190672 PMID:19533689 PMID:20461111 PMID:20656880 PMID:20683995 PMID:20921020 PMID:21330571 PMID:21659346 PMID:21865173 PMID:22382802 PMID:22527104 PMID:22855652 PMID:23033978 PMID:23188044 PMID:23352163 PMID:23757202 PMID:24033266 PMID:24311531 PMID:24334764 PMID:25326635 PMID:25356970 PMID:25472526 PMID:25502226 PMID:25525159 PMID:25533962 PMID:25741868 PMID:26133662 PMID:26395554 PMID:26443248 PMID:26467025 PMID:26938784 PMID:27175599 PMID:27353947 PMID:27380831 PMID:27533158 PMID:27829003 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28631888 PMID:28832562 PMID:29431110 PMID:29453417 PMID:29706646 PMID:29758347 PMID:30138938 PMID:30602132 PMID:30843084 PMID:31965297 PMID:32860008 PMID:32919079 NCBI chr 7:74,118,834...74,722,341
Ensembl chr 7:75,852,610...75,858,812
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 chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive ClinVar PMID:28492532 NCBI chr 1:219,383,452...219,388,009
Ensembl chr 1:219,383,452...219,388,009
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)
ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9662399 PMID:9662400 PMID:25307992 PMID:25741868 PMID:28041643 PMID:28492532 PMID:30825406, PMID:12111638, PMID:18246026 RGD:734671, RGD:13782370 NCBI chr  X:15,712,709...15,741,135
Ensembl chr  X:15,712,713...15,741,103
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 Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive ClinVar NCBI chr 8:70,293,355...70,406,675
Ensembl chr 8:70,317,586...70,406,751
JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 8:116,433,302...116,438,038
Ensembl chr 8:116,433,302...116,438,038
JBrowse link
G Gnb3 G protein subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
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:28041643 NCBI chr10:85,273,839...85,289,886
Ensembl chr10:85,274,057...85,289,777
JBrowse link
G Grk1 G protein-coupled receptor kinase 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:30718709 NCBI chr16:81,153,489...81,165,442
Ensembl chr16:81,153,489...81,165,442
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:16249515 PMID:17405131 PMID:19666700 PMID:22008250 PMID:28041643 PMID:28492532 PMID:30718709 NCBI chr10:36,345,503...36,363,416
Ensembl chr10:36,345,939...36,360,665
JBrowse link
G Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:28492532 NCBI chr 2:235,213,017...235,232,894
Ensembl chr 2:235,213,027...235,232,530
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: Congenital stationary night blindness, X-linked
CTD
ClinVar
PMID:25307992 PMID:28492532 NCBI chr  X:10,197,547...10,218,583
Ensembl chr  X:10,197,547...10,218,583
JBrowse link
G Pde6b phosphodiesterase 6B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant
CTD
ClinVar
PMID:8075643 PMID:30718709 NCBI chr14:2,328,690...2,371,913
Ensembl chr14:2,328,750...2,371,883
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:28492532 NCBI chr 4:147,832,136...147,837,298
Ensembl chr 4:147,832,136...147,837,298
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:28041643 NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
JBrowse link
G Sag S-antigen visual arrestin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7670478 NCBI chr 9:94,926,901...94,972,162
Ensembl chr 9:94,928,489...94,972,027
JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:28492532 NCBI chr 8:70,409,683...70,438,352
Ensembl chr 8:70,408,528...70,436,028
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
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:deletion, missense mutations:cds:multiple (human)
ClinVar
CTD
PMID:19878917 PMID:19896113 PMID:25741868 PMID:28041643 PMID:28492532, PMID:19878917, PMID:19896113, PMID:19896109 RGD:7175555, RGD:7183085, RGD:7183084 NCBI chr 1:124,983,391...125,101,759
Ensembl chr 1:124,983,452...125,099,573
JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO DNA:mutations:multiple (human) RGD PMID:19878917 RGD:7175555 NCBI chr10:59,829,755...59,863,780
Ensembl chr10:59,831,241...59,860,987
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 PMID:12112664 PMID:14970843 PMID:15025721 PMID:15325563 PMID:15326663 PMID:17405132 PMID:18641288 PMID:19881469 PMID:20145675 PMID:20301515 PMID:22581970 PMID:24033266 PMID:24088041 PMID:24160897 PMID:24607488 PMID:25097241 PMID:25404053 PMID:25649381 PMID:25741868 PMID:26633545 PMID:26872967 PMID:28041643 PMID:28492532 PMID:29953849 PMID:30718709 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
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, type 1A
ClinVar Annotator: match by OMIM:310500
OMIM
ClinVar
PMID:11062471 PMID:11062472 PMID:16670814 PMID:17392683 PMID:23406521 PMID:25741868 PMID:28492532 NCBI chr  X:10,197,547...10,218,583
Ensembl chr  X:10,197,547...10,218,583
JBrowse link
congenital stationary night blindness 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar NCBI chr 8:70,293,355...70,406,675
Ensembl chr 8:70,317,586...70,406,751
JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 1B
ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:257270
OMIM
ClinVar
PMID:11874764 PMID:15781871 PMID:16249515 PMID:17405131 PMID:19666700 PMID:19862333 PMID:22008250 PMID:22735794 PMID:25741868 PMID:28041643 PMID:28492532 PMID:30718709 NCBI chr10:36,345,503...36,363,416
Ensembl chr10:36,345,939...36,360,665
JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:12037007 PMID:20850105 PMID:25741868 PMID:26822852 PMID:28492532 NCBI chr 8:70,409,683...70,438,352
Ensembl chr 8:70,408,528...70,436,028
JBrowse link
congenital stationary night blindness 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar NCBI chr 8:70,293,355...70,406,675
Ensembl chr 8:70,317,586...70,406,751
JBrowse link
G Mir211 microRNA 211 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 1C ClinVar PMID:25741868 NCBI chr 1:125,042,119...125,042,224
Ensembl chr 1:125,042,119...125,042,224
JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:12037007 PMID:20850105 PMID:25741868 PMID:26822852 PMID:28492532 NCBI chr 8:70,409,683...70,438,352
Ensembl chr 8:70,408,528...70,436,028
JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 1C
ClinVar Annotator: match by OMIM:613216
OMIM
ClinVar
PMID:19436059 PMID:19878917 PMID:19896109 PMID:19896113 PMID:19966281 PMID:20300565 PMID:22277662 PMID:25307992 PMID:25741868 PMID:25999674 PMID:26493165 PMID:26872967 PMID:28492532 PMID:30718709 NCBI chr 1:124,983,391...125,101,759
Ensembl chr 1:124,983,452...125,099,573
JBrowse link
congenital stationary night blindness 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar NCBI chr 8:70,293,355...70,406,675
Ensembl chr 8:70,317,586...70,406,751
JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Congenital stationary night blindness, type 1D
ClinVar Annotator: match by OMIM:613830
OMIM
ClinVar
PMID:12037007 PMID:20850105 PMID:25741868 PMID:26822852 PMID:28492532 NCBI chr 8:70,409,683...70,438,352
Ensembl chr 8:70,408,528...70,436,028
JBrowse link
congenital stationary night blindness 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar NCBI chr 8:70,293,355...70,406,675
Ensembl chr 8:70,317,586...70,406,751
JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 1E
ClinVar Annotator: match by OMIM:614565
OMIM
ClinVar
PMID:22325361 PMID:22325362 PMID:24033266 PMID:25741868 PMID:28041643 PMID:28492532 PMID:30718709 NCBI chr10:85,273,839...85,289,886
Ensembl chr10:85,274,057...85,289,777
JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:12037007 PMID:20850105 PMID:25741868 PMID:26822852 PMID:28492532 NCBI chr 8:70,409,683...70,438,352
Ensembl chr 8:70,408,528...70,436,028
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, type 1F
ClinVar Annotator: match by OMIM:615058
OMIM
ClinVar
PMID:22673519 PMID:23246293 PMID:25741868 PMID:28492532 NCBI chr 2:235,213,017...235,232,894
Ensembl chr 2:235,213,027...235,232,530
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: Night blindness, congenital stationary, type 1g OMIM
ClinVar
PMID:22190596 PMID:25741868 PMID:26472407 PMID:28492532 NCBI chr 8:116,433,302...116,438,038
Ensembl chr 8:116,433,302...116,438,038
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: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H ClinVar PMID:27063057 NCBI chr 4:157,347,876...157,351,889
Ensembl chr 4:157,348,020...157,351,604
JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by OMIM:617024
ClinVar Annotator: match by term: Night blindness, congenital stationary, type 1h
ClinVar
OMIM
PMID:25741868 PMID:27063057 NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
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:16505055 PMID:17724218 PMID:20050595 PMID:23035049 PMID:25477517 PMID:25741868 PMID:26253563 PMID:26626312 PMID:28492532 PMID:29061346 PMID:29559409 PMID:30718709 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
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, type 2A
ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A, severe
ClinVar Annotator: match by OMIM:300071
OMIM
ClinVar
PMID:9529339 PMID:9662399 PMID:9662400 PMID:11281458 PMID:12111638 PMID:12187427 PMID:12719097 PMID:15897456 PMID:23714322 PMID:24033266 PMID:25307992 PMID:25741868 PMID:28041643 PMID:28492532 PMID:30576320 PMID:30718709 NCBI chr  X:15,712,709...15,741,135
Ensembl chr  X:15,712,713...15,741,103
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: Congenital stationary night blindness, type 2B
ClinVar Annotator: match by OMIM:610427
OMIM
ClinVar
PMID:16960802 PMID:19074807 PMID:20157620 PMID:23099293 PMID:23714322 PMID:25258313 PMID:25741868 PMID:26234941 PMID:28041643 PMID:28492532 PMID:29525873 PMID:30718709 NCBI chr 1:219,383,452...219,388,009
Ensembl chr 1:219,383,452...219,388,009
JBrowse link
G Gpr152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 2B ClinVar NCBI chr 1:219,389,418...219,394,124
Ensembl chr 1:219,390,523...219,392,478
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 OMIM:610445
OMIM
ClinVar
PMID:1418997 PMID:1987955 PMID:1987956 PMID:2137202 PMID:2239971 PMID:2509724 PMID:7981701 PMID:8088850 PMID:8107847 PMID:8317502 PMID:8358437 PMID:9050844 PMID:9380676 PMID:9618546 PMID:9888392 PMID:10521250 PMID:11139241 PMID:11879142 PMID:12091393 PMID:12860986 PMID:12871954 PMID:14769795 PMID:14971589 PMID:15509574 PMID:16123440 PMID:16767206 PMID:17488458 PMID:19913029 PMID:20591486 PMID:21094163 PMID:21217109 PMID:21219898 PMID:22164218 PMID:22323724 PMID:22995991 PMID:24760071 PMID:24853414 PMID:25097241 PMID:25741868 PMID:25999674 PMID:28492532 PMID:28559085 PMID:29847639 PMID:30240733 PMID:30718709 PMID:30977563 NCBI chr 4:147,832,136...147,837,298
Ensembl chr 4:147,832,136...147,837,298
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
ClinVar Annotator: match by OMIM:163500
OMIM
ClinVar
PMID:7724547 PMID:8075643 PMID:8394174 PMID:8595886 PMID:9536098 PMID:17044014 PMID:17576681 PMID:22334370 PMID:24033266 PMID:24265693 PMID:24938718 PMID:25097241 PMID:25472526 PMID:25741868 PMID:25999674 PMID:26667666 PMID:26766544 PMID:27588261 PMID:27596865 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28912962 PMID:28981474 PMID:30029497 PMID:30646425 PMID:30718709 NCBI chr14:2,328,690...2,371,913
Ensembl chr14:2,328,750...2,371,883
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 OMIM:610444
OMIM
ClinVar
PMID:8673138 PMID:17584859 PMID:25741868 PMID:26472407 PMID:28492532 NCBI chr 8:116,433,302...116,438,038
Ensembl chr 8:116,433,302...116,438,038
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 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
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 chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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 9:30,939,555...31,038,381
Ensembl chr 9:30,939,555...31,038,379
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Donnai-Barrow syndrome
ClinVar Annotator: match by term: Donnai Barrow syndrome
ClinVar Annotator: match by OMIM:222448
OMIM
ClinVar
PMID:8266995 PMID:9475100 PMID:12923867 PMID:17632512 PMID:18414213 PMID:20359920 PMID:23033978 PMID:24319098 PMID:24406863 PMID:24876117 PMID:25158045 PMID:25326635 PMID:25741868 PMID:26118977 PMID:26529358 PMID:28492532 PMID:30167849 PMID:32238909 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
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 OMIM:611174
OMIM
ClinVar
PMID:17230486 PMID:22581230 PMID:25741868 PMID:28492532 NCBI chr19:16,415,813...16,421,088
Ensembl chr19:16,415,636...16,421,191
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: Severe Myopia ClinVar NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Ablim2 actin binding LIM protein family, member 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr14:80,044,217...80,169,491
Ensembl chr14:80,045,078...80,169,472
JBrowse link
G Aebp1 AE binding protein 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr14:86,101,253...86,111,323
Ensembl chr14:86,101,277...86,111,306
JBrowse link
G Aldh1l1 aldehyde dehydrogenase 1 family, member L1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 4:123,516,553...123,564,067
Ensembl chr 4:123,516,788...123,557,501
JBrowse link
G Anapc1 anaphase promoting complex subunit 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 3:121,147,484...121,226,125
Ensembl chr 3:121,147,547...121,226,125
JBrowse link
G Ankmy2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 6:55,646,905...55,689,223
Ensembl chr 6:55,648,021...55,689,218
JBrowse link
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:28492532 NCBI chr12:14,161,998...14,175,997 JBrowse link
G Atat1 alpha tubulin acetyltransferase 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr20:3,351,269...3,364,565
Ensembl chr20:3,351,303...3,364,565
JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 2:187,359,674...187,373,133
Ensembl chr 2:187,359,677...187,372,657
JBrowse link
G Cd109 CD109 molecule ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 8:85,951,420...86,065,411
Ensembl chr 8:85,951,191...86,065,409
JBrowse link
G Ciao3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr10:15,143,732...15,152,706
Ensembl chr10:15,143,713...15,153,396
JBrowse link
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:24814191 PMID:25803036 NCBI chr 1:267,416,681...267,465,049
Ensembl chr 1:267,417,459...267,463,705
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
JBrowse link
G Col1a1 collagen type I alpha 1 chain 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 chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col2a1 collagen type II alpha 1 chain severity ISO DNA:snps:multiple (human) RGD PMID:19387081 RGD:8657342 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 7:130,395,211...130,404,731
Ensembl chr 7:130,395,194...130,405,347
JBrowse link
G Crygd crystallin, gamma D ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 9:71,776,568...71,778,323
Ensembl chr 9:71,764,318...71,778,323
JBrowse link
G Dut deoxyuridine triphosphatase ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 3:117,514,399...117,525,450
Ensembl chr 3:117,514,444...117,525,446
JBrowse link
G Egflam EGF-like, fibronectin type III and laminin G domains ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 2:56,503,002...56,681,334
Ensembl chr 2:56,502,807...56,679,955
JBrowse link
G Elavl4 ELAV like RNA binding protein 4 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 5:130,001,387...130,144,557
Ensembl chr 5:130,001,372...130,085,838
JBrowse link
G Epha8 Eph receptor A8 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 5:155,293,731...155,321,016
Ensembl chr 5:155,295,314...155,316,495
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:7611299 PMID:8894692 PMID:9401003 PMID:10464652 PMID:10533071 PMID:10874320 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12938084 PMID:14695540 PMID:15241795 PMID:16220557 PMID:16222657 PMID:16835936 PMID:17253931 PMID:17627385 PMID:17657824 PMID:17663468 PMID:19159394 PMID:19293843 PMID:21542060 PMID:21907952 PMID:24033266 PMID:24161884 PMID:24833718 PMID:25741868 PMID:25907466 PMID:26133393 PMID:26333736 PMID:27146836 PMID:27611364 PMID:28492532 PMID:29357934 PMID:30675029 PMID:30739908 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
JBrowse link
G Fhip1a FHF complex subunit HOOK interacting protein 1A ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 2:184,684,851...184,993,350
Ensembl chr 2:184,941,700...185,168,773
JBrowse link
G Flii FLII, actin remodeling protein ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr10:46,955,460...46,969,468
Ensembl chr10:46,955,487...46,969,406
JBrowse link
G Flrt3 fibronectin leucine rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 3:134,684,446...134,696,586
Ensembl chr 3:134,683,065...134,696,654
JBrowse link
G Fuca2 alpha-L-fucosidase 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 1:7,658,919...7,673,663
Ensembl chr 1:7,658,890...7,673,683
JBrowse link
G Gna14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 1:235,165,775...235,347,986
Ensembl chr 1:235,166,718...235,347,937
JBrowse link
G Grb7 growth factor receptor bound protein 7 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr10:86,393,186...86,408,893
Ensembl chr10:86,399,827...86,409,348
JBrowse link
G Hmx2 H6 family homeobox 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 1:203,515,605...203,523,266
Ensembl chr 1:203,515,609...203,523,358
JBrowse link
G Hsd17b14 hydroxysteroid (17-beta) dehydrogenase 14 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 1:101,541,266...101,551,059
Ensembl chr 1:101,541,266...101,551,059
JBrowse link
G Ifit1 interferon-induced protein with tetratricopeptide repeats 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 1:252,944,105...252,946,170
Ensembl chr 1:252,944,103...252,946,170
JBrowse link
G Il1rap interleukin 1 receptor accessory protein ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr11:77,456,648...77,593,208
Ensembl chr11:77,463,954...77,593,207
JBrowse link
G Il36b interleukin 36, beta ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 3:1,366,123...1,464,851
Ensembl chr 3:1,366,119...1,371,626
JBrowse link
G Ina internexin neuronal intermediate filament protein, alpha ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 1:266,782,835...266,794,389
Ensembl chr 1:266,781,617...266,794,431
JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:28492532 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Krtap9-1 keratin associated protein 9-1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr10:87,759,781...87,760,576 JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 3:175,553,042...175,601,112
Ensembl chr 3:175,553,045...175,601,127
JBrowse link
G Lgmn legumain ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 6:126,282,246...126,308,207
Ensembl chr 6:126,282,233...126,320,726
JBrowse link
G Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr12:25,036,630...25,070,538
Ensembl chr12:25,036,605...25,070,539
JBrowse link
G Lrp1b LDL receptor related protein 1B ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 3:25,201,194...27,348,126 JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:25741868 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
JBrowse link
G Macrod2 mono-ADP ribosylhydrolase 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 3:135,729,839...136,422,082 JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 2:197,786,212...197,788,992 JBrowse link
G Neil2 nei-like DNA glycosylase 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr15:46,371,780...46,382,730
Ensembl chr15:46,372,485...46,381,967
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
JBrowse link
G Nrcam neuronal cell adhesion molecule ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 6:64,297,843...64,867,408
Ensembl chr 6:64,297,888...64,864,996
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 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Paxbp1 PAX3 and PAX7 binding protein 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr11:31,184,456...31,213,891
Ensembl chr11:31,185,473...31,213,787
JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:25741868 NCBI chr 5:126,031,368...126,053,726
Ensembl chr 5:126,031,368...126,053,726
JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr14:2,328,690...2,371,913
Ensembl chr14:2,328,750...2,371,883
JBrowse link
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 9:61,066,170...61,134,963
Ensembl chr 9:61,066,175...61,134,963
JBrowse link
G Pgs1 phosphatidylglycerophosphate synthase 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr10:106,994,595...107,030,208
Ensembl chr10:106,991,935...107,030,260
JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 3:160,945,556...160,954,738
Ensembl chr 3:160,945,359...160,954,739
JBrowse link
G Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 5:124,568,845...124,642,569
Ensembl chr 5:124,574,079...124,642,569
JBrowse link
G Prpf38b pre-mRNA processing factor 38B ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 2:211,706,245...211,715,271
Ensembl chr 2:211,706,228...211,715,311
JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:32077105 NCBI chr 1:233,124,089...233,145,941
Ensembl chr 1:233,124,092...233,145,941
JBrowse link
G Ptprz1 protein tyrosine phosphatase, receptor type Z1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 4:49,941,046...50,140,764
Ensembl chr 4:49,941,304...50,140,762
JBrowse link
G Pygm glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:221,756,325...221,771,142
Ensembl chr 1:221,756,286...221,771,143
JBrowse link
G Rabepk Rab9 effector protein with kelch motifs ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 3:13,845,352...13,865,843
Ensembl chr 3:13,845,361...13,865,843
JBrowse link
G Ralgapb Ral GTPase activating protein non-catalytic subunit beta ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 3:154,910,291...154,983,021
Ensembl chr 3:154,905,141...154,983,021
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 8:97,277,250...97,405,095
Ensembl chr 8:97,277,456...97,405,102
JBrowse link
G Rpl4 ribosomal protein L4 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 8:69,121,682...69,126,805
Ensembl chr 8:69,121,682...69,126,805
JBrowse link
G Sema3c semaphorin 3C ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 4:14,318,276...14,490,438
Ensembl chr 4:14,318,274...14,490,446
JBrowse link
G Sipa1l2 signal-induced proliferation-associated 1 like 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr19:58,236,201...58,399,842
Ensembl chr19:58,236,214...58,399,816
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
JBrowse link
G Slc22a5 solute carrier family 22 member 5 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:18673259 PMID:25741868 PMID:26828774 PMID:28492532 NCBI chr10:39,201,101...39,228,090
Ensembl chr10:39,201,107...39,323,853
JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 3:11,442,396...11,476,186
Ensembl chr 3:11,442,397...11,452,529
JBrowse link
G Slc28a1 solute carrier family 28 member 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 1:142,948,942...142,992,410
Ensembl chr 1:142,950,540...142,992,615
JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 5:173,024,335...173,050,228
Ensembl chr 5:173,024,335...173,046,194
JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:25741868 NCBI chr 1:32,199,869...32,218,628
Ensembl chr 1:32,199,810...32,220,045
JBrowse link
G Sntg2 syntrophin, gamma 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 6:49,123,084...49,324,530
Ensembl chr 6:49,123,084...49,324,450
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 8:32,240,113...32,280,813
Ensembl chr 8:32,240,133...32,280,869
JBrowse link
G Stac2 SH3 and cysteine rich domain 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr10:85,988,367...86,004,209
Ensembl chr10:85,988,367...86,004,209
JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:32581362 NCBI chr 7:74,118,834...74,722,341
Ensembl chr 7:75,852,610...75,858,812
JBrowse link
G Wdr36 WD repeat domain 36 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr18:25,637,475...25,665,801
Ensembl chr18:25,637,588...25,665,639
JBrowse link
G Zc3h13 zinc finger CCCH type containing 13 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr15:57,340,522...57,405,287
Ensembl chr15:57,340,579...57,405,287
JBrowse link
G Zfp446 zinc finger protein 446 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 1:65,595,518...65,608,757 JBrowse link
G Zfp536 zinc finger protein 536 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 1:93,689,114...94,155,457
Ensembl chr 1:93,851,454...93,949,187
JBrowse link
G Zfp692 zinc finger protein 692 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr10:43,740,739...43,752,713
Ensembl chr10:43,744,731...43,752,242
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 OMIM:614292
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:21885030 PMID:24172257 PMID:25469533 PMID:25741868 NCBI chr11:78,028,885...78,169,746
Ensembl chr11:78,029,038...78,169,648
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 OMIM
ClinVar
PMID:23543054 PMID:23946138 PMID:25741868 NCBI chr15:95,507,632...95,514,259
Ensembl chr15:95,507,640...95,514,259
JBrowse link
MASS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Overlap connective tissue disease
ClinVar Annotator: match by term: MASS syndrome
ClinVar Annotator: match by OMIM:604308
OMIM
ClinVar
PMID:1569206 PMID:2005308 PMID:2739055 PMID:4750422 PMID:7802039 PMID:7870075 PMID:8653794 PMID:8723076 PMID:9338581 PMID:9399842 PMID:9401003 PMID:9536098 PMID:9837823 PMID:10464652 PMID:10533071 PMID:10633129 PMID:10930463 PMID:11068200 PMID:11524736 PMID:11700157 PMID:11748851 PMID:11826022 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12203987 PMID:12203992 PMID:12446365 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15880509 PMID:16220557 PMID:16222657 PMID:16342915 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16971892 PMID:17253931 PMID:17418587 PMID:17576681 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17701892 PMID:17718856 PMID:18079676 PMID:18087243 PMID:18310266 PMID:18435798 PMID:18615205 PMID:19012347 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19353630 PMID:19533785 PMID:19618372 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20375004 PMID:20564469 PMID:21542060 PMID:21883168 PMID:21895641 PMID:21907952 PMID:22772377 PMID:23506379 PMID:23577066 PMID:23608731 PMID:23719250 PMID:23794388 PMID:24033266 PMID:24161884 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25326635 PMID:25504618 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25907466 PMID:25944730 PMID:26272055 PMID:26333736 PMID:26498160 PMID:26621581 PMID:26787436 PMID:27146836 PMID:27153395 PMID:27353645 PMID:27437668 PMID:27582083 PMID:27611364 PMID:27930701 PMID:28050602 PMID:28098115 PMID:28166811 PMID:28492532 PMID:28539832 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28973303 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29848614 PMID:29907982 PMID:30048161 PMID:30341550 PMID:30675029 PMID:30739908 PMID:31163209 PMID:31211626 PMID:31227806 PMID:31730815 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
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 OMIM
ClinVar
PMID:9800905 PMID:22496037 PMID:25741868 PMID:27390512 PMID:28018693 PMID:28492532 PMID:28983407 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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 chr10:88,490,798...88,497,357
Ensembl chr10:88,490,798...88,497,356
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 OMIM:614167
OMIM
ClinVar
PMID:21695231 PMID:25741868 NCBI chr14:4,125,368...4,200,332
Ensembl chr14:4,125,380...4,200,328
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 OMIM:615420
ClinVar Annotator: match by term: Myopia 22, autosomal dominant
ClinVar
OMIM
PMID:23579484 PMID:25741868 NCBI chr16:48,863,385...48,900,409
Ensembl chr16:48,863,418...48,897,795
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: Rare isolated myopia
ClinVar Annotator: match by OMIM:615431
OMIM
ClinVar
PMID:23830514 PMID:24033266 PMID:25525168 PMID:26271838 NCBI chr14:80,911,281...80,923,290
Ensembl chr14:80,911,270...80,924,831
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 chr 7:2,813,875...2,819,917
Ensembl chr 7:2,813,875...2,819,299
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: Myopia 25, autosomal dominant
ClinVar
OMIM
PMID:25741866 PMID:25741868 PMID:28492532 NCBI chr10:39,435,227...39,464,134
Ensembl chr10:39,435,227...39,464,188
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: MYOPIA 26, X-LINKED, FEMALE-LIMITED ClinVar
OMIM
PMID:27829781 NCBI chr  X:70,438,590...70,452,140
Ensembl chr  X:70,438,617...70,452,067
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:30689892 NCBI chr 7:117,661,779...117,672,373
Ensembl chr 7:117,661,661...117,672,373
JBrowse link
Myopia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Myopia 6
ClinVar PMID:10545952 PMID:11673586 PMID:12020273 PMID:14970747 PMID:16326995 PMID:23643385 PMID:25741868 PMID:25959673 PMID:28492532 NCBI chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493
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: NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 1 OMIM
ClinVar
PMID:7670478 PMID:9565049 PMID:15234147 PMID:15295660 PMID:17200654 PMID:21447990 PMID:21922265 PMID:21987685 PMID:25268133 PMID:25741868 NCBI chr 9:94,926,901...94,972,162
Ensembl chr 9:94,928,489...94,972,027
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 ClinVar
OMIM
PMID:9020843 PMID:9419375 PMID:16319817 PMID:17070587 PMID:17765441 PMID:19753316 PMID:22959359 PMID:26349155 PMID:27511724 PMID:28418496 PMID:28511019 PMID:30718709 NCBI chr16:81,153,489...81,165,442
Ensembl chr16:81,153,489...81,165,442
JBrowse link
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Oguchi disease 2 ClinVar PMID:9452120 PMID:22419846 PMID:25741868 PMID:28492532 NCBI chr 9:94,926,901...94,972,162
Ensembl chr 9:94,928,489...94,972,027
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    sensory system disease 5335
      eye disease 2646
        refractive error 172
          myopia 139
            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 2
            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 + 81
            Isolated Microphthalmia with Corectopia 0
            MASS Syndrome 1
            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 1
            Myopia 24, Autosomal Dominant 1
            Myopia 25, Autosomal Dominant 1
            Myopia 26, X-Linked, Female-Limited 1
            Myopia 27 1
            Myopia 3 0
            Myopia 5 0
            Myopia 6 1
            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 + 25
            degenerative myopia 2
            high myopia-sensorineural deafness syndrome 1
            multiple epiphyseal dysplasia with myopia and deafness 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        sensory system disease 5335
          eye disease 2646
            refractive error 172
              myopia 139
                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 2
                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 + 81
                Isolated Microphthalmia with Corectopia 0
                MASS Syndrome 1
                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 1
                Myopia 24, Autosomal Dominant 1
                Myopia 25, Autosomal Dominant 1
                Myopia 26, X-Linked, Female-Limited 1
                Myopia 27 1
                Myopia 3 0
                Myopia 5 0
                Myopia 6 1
                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 + 25
                degenerative myopia 2
                high myopia-sensorineural deafness syndrome 1
                multiple epiphyseal dysplasia with myopia and deafness 1
paths to the root