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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:Hereditary Eye Diseases
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Accession:DOID:9002525 term browser browse the term
Definition:Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder.
Synonyms:exact_synonym: Hereditary Eye Disease
 primary_id: MESH:D015785
 alt_id: RDO:0001905
For additional species annotation, visit the Alliance of Genome Resources.


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Hereditary Eye Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col18a1 collagen type XVIII alpha 1 chain susceptibility ISO Knobloch syndrome, OMIM:267750;DNA:deletion: :c.3514delCT RGD PMID:12415512 RGD:1600885 NCBI chr20:11,474,104...11,582,593 JBrowse link
G Ctns cystinosin, lysosomal cystine transporter treatment ISO associated with Cystinosis;human gene in a mouse model RGD PMID:26540660 RGD:11354731 NCBI chr10:57,801,551...57,817,213 JBrowse link
G Guca1a guanylate cyclase activator 1A ISO autosomal dominant cone dystrophy 3, OMIM:602093 RGD PMID:9425234 RGD:1599353 NCBI chr 9:13,587,695...13,598,566 JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO CTD Direct Evidence: marker/mechanism CTD PMID:19668215 NCBI chr 3:9,216,776...9,229,539 JBrowse link
G LOC100912849 uncharacterized LOC100912849 ISO autosomal dominant cone dystrophy 3, OMIM:602093 DNA:point mutation:exon:A319G -> amino acid Y99C RGD PMID:9425234 RGD:1599353 NCBI chr 9:13,560,663...13,582,987 JBrowse link
G Lrat lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16968212 NCBI chr 2:168,264,093...168,273,155 JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chr 3:54,189,305...54,346,769 JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO Norrie Disease, OMIM:310600, DNA:point mutations:exon RGD PMID:1303235 RGD:1600222 NCBI chr  X:5,796,487...5,820,934 JBrowse link
G Plk4 polo-like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25344692 NCBI chr 2:123,802,512...123,820,942 JBrowse link
G Rgs9 regulator of G-protein signaling 9 ISO DNA:mutation RGD PMID:14702087 RGD:1599999 NCBI chr10:94,195,265...94,270,892 JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16968212 NCBI chr 1:133,308,920...133,322,296 JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: therapeutic CTD PMID:16968212 NCBI chr 2:248,766,497...248,798,403 JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 susceptibility ISO protein:mutation: ; Y172C; Sorsby fundus dystrophy, OMIM:136900 RGD PMID:9400791 RGD:1600153 NCBI chr 7:17,520,827...17,571,871 JBrowse link
achromatopsia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Achromatopsia 4
ClinVar Annotator: match by OMIM:613856
OMIM
ClinVar
PMID:12077706 PMID:12205108 PMID:15557429 PMID:21107338 PMID:25741868 PMID:28492532 NCBI chr 2:195,726,371...195,735,866 JBrowse link
Achromatopsia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Achromatopsia 5 ClinVar PMID:19615668 PMID:19887631 PMID:21127010 PMID:25741868 PMID:28492532 PMID:30080950 NCBI chr 1:235,909,473...235,965,460 JBrowse link
Alacrima, Achalasia, and Mental Retardation Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppa GDP-mannose pyrophosphorylase A ISO ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome
ClinVar Annotator: match by OMIM:615510
OMIM
ClinVar
PMID:24035193 PMID:25741868 PMID:28492532 PMID:28574218 NCBI chr 9:76,926,724...76,934,274 JBrowse link
Aland Island eye disease 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: Ocular albinism, type II ClinVar PMID:30718709 NCBI chr 1:201,428,671...201,442,950 JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Ocular albinism, type II
DNA:deletion:exon:
OMIM
ClinVar
PMID:9662399 PMID:11281458 PMID:14230113 PMID:16199547 PMID:17525176 PMID:22194652 PMID:24124559 PMID:25741868 PMID:26992781 PMID:28492532 PMID:30718709, PMID:17525176 RGD:13782379 NCBI chr  X:14,868,096...14,896,413 JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Ocular albinism, type II ClinVar PMID:28492532 PMID:30718709 NCBI chr 5:76,828,308...76,911,945 JBrowse link
Albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:33100333 NCBI chr15:95,062,006...95,100,863 JBrowse link
G Gpr143 G protein-coupled receptor 143 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:8634705 PMID:28041643 NCBI chr  X:22,002,914...22,027,720 JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:19060277 PMID:23824587 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28976636 PMID:29345414 NCBI chr 1:107,116,278...107,446,093 JBrowse link
G Tyr tyrosinase treatment ISO
IMP
DNA:missense mutation:cds:p.H420R(mouse)
ClinVar Annotator: match by term: Albinism
ClinVar PMID:666627 PMID:1429711 PMID:1820207 PMID:1832718 PMID:1903591 PMID:1970634 PMID:2903492 PMID:7704033 PMID:7849740 PMID:9158138 PMID:9163730 PMID:10766867 PMID:12753405 PMID:13680365 PMID:15146472 PMID:15381243 PMID:17952075 PMID:18326704 PMID:18463683 PMID:18488027 PMID:18488028 PMID:18821858 PMID:18925668 PMID:19060277 PMID:19208379 PMID:19533789 PMID:19865097 PMID:20861488 PMID:21541274 PMID:22294196 PMID:23504663 PMID:24033266 PMID:24721949 PMID:25216246 PMID:25741868 PMID:25919014 PMID:28041643 PMID:28266639 PMID:28451379 PMID:28492532 PMID:28629449 PMID:33223529, PMID:2567165, PMID:23409244, PMID:2112453 RGD:8694353, RGD:12792973, RGD:8694355 NCBI chr 1:141,115,036...141,210,207 JBrowse link
G Tyrem1Kyo tyrosinase; TALEN induced mutant1, Kyo IMP RGD PMID:23409244 RGD:12792973
G Tyrp1 tyrosinase-related protein 1 ISO ClinVar Annotator: match by term: Albinism ClinVar PMID:8651291 PMID:9345097 PMID:25741868 PMID:28041643 PMID:28492532 NCBI chr 5:95,280,982...95,299,516 JBrowse link
Alstrom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alms1 ALMS1, centrosome and basal body associated protein susceptibility ISO DNA:frameshift mutations, nonsense mutations
ClinVar Annotator: match by term: Alstrom syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:203800
DNA:frameshift mutations, nonsense mutations, missense mutations:multiple
DNA:nonsense mutations, frameshift mutation, missense mutation:multiple
ClinVar
CTD
OMIM
PMID:9063741 PMID:9409865 PMID:9536098 PMID:11941369 PMID:11941370 PMID:15689433 PMID:16199547 PMID:16720663 PMID:17576681 PMID:17594715 PMID:17850632 PMID:18038714 PMID:18154657 PMID:18414213 PMID:19763152 PMID:20307669 PMID:21157496 PMID:21877133 PMID:21897446 PMID:21901789 PMID:21943378 PMID:22406018 PMID:22447358 PMID:22533542 PMID:22555271 PMID:22773737 PMID:22876109 PMID:23188138 PMID:23847139 PMID:24033266 PMID:24049434 PMID:24400638 PMID:24462884 PMID:24503146 PMID:24595103 PMID:24830966 PMID:25296579 PMID:25468891 PMID:25533962 PMID:25640679 PMID:25706677 PMID:25741868 PMID:25846608 PMID:25999675 PMID:26010121 PMID:26047050 PMID:26077327 PMID:26082521 PMID:26104972 PMID:26111748 PMID:26239645 PMID:26283575 PMID:26285675 PMID:26467025 PMID:26566502 PMID:26636822 PMID:26992781 PMID:27178444 PMID:27523285 PMID:27665122 PMID:28402684 PMID:28432734 PMID:28492532 PMID:28502102 PMID:28717663 PMID:29079548 PMID:29193673 PMID:29345162 PMID:29588463 PMID:29610177 PMID:29715191 PMID:30029497 PMID:30064963 PMID:30311386 PMID:30488743 PMID:31638414 PMID:31810438 PMID:32581362, PMID:11941369, PMID:16720663, PMID:22876109, PMID:16000322, PMID:16513793 RGD:1601169, RGD:8696018, RGD:8696016, RGD:8696015, RGD:8696013 NCBI chr 4:118,125,581...118,226,005 JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,989,232...118,006,478 JBrowse link
G Egr4 early growth response 4 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:118,047,869...118,050,328 JBrowse link
G Emx1 empty spiracles homeobox 1 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,725,148...117,741,616 JBrowse link
G Fbxo41 F-box protein 41 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:118,007,517...118,039,547 JBrowse link
G Noto notochord homeobox ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,961,163...117,965,402 JBrowse link
G Pradc1 protease-associated domain containing 1 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,984,732...117,989,710 JBrowse link
G Rab11fip5 RAB11 family interacting protein 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,871,301...117,908,819 JBrowse link
G Sfxn5 sideroflexin 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,750,213...117,869,826 JBrowse link
G Smyd5 SMYD family member 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,969,615...117,984,082 JBrowse link
G Spr sepiapterin reductase ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,671,948...117,676,292 JBrowse link
Amaurosis Hypertrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:38,711,726...38,750,942 JBrowse link
aniridia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpk1 alpha-kinase 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:216,126,939...216,247,180 JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:215,378,028...215,954,015 JBrowse link
G Ap1ar adaptor-related protein complex 1 associated regulatory protein ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:216,276,631...216,309,020 JBrowse link
G Arsj arylsulfatase family, member J ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:214,775,483...214,853,655 JBrowse link
G Camk2d calcium/calmodulin-dependent protein kinase II delta ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:215,023,785...215,287,351 JBrowse link
G Dcdc5 doublecortin domain containing 5 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 3:92,718,047...92,896,696 JBrowse link
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 3:92,450,631...92,486,004 JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Aniridia
ClinVar Annotator: match by term: Absent iris
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:28492532 NCBI chr 3:92,162,271...92,385,251 JBrowse link
G Fam241a family with sequence similarity 241 member A ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:216,344,563...216,375,193 JBrowse link
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr17:32,631,379...32,635,361 JBrowse link
G Glis3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by term: Aniridia ClinVar PMID:26893459 NCBI chr 1:225,976,029...226,395,849 JBrowse link
G Gmds GDP-mannose 4, 6-dehydratase ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr17:32,095,315...32,621,975 JBrowse link
G Immp1l inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 3:92,385,329...92,450,557 JBrowse link
G Kif21a kinesin family member 21A ISO ClinVar Annotator: match by term: Aniridia ClinVar PMID:26893459 NCBI chr 7:122,062,523...122,179,051 JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:215,997,641...216,012,833 JBrowse link
G Neurog2 neurogenin 2 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:216,092,641...216,095,276 JBrowse link
G Pax6 paired box 6 susceptibility ISO DNA:mutations:exon, intron:multiple (human)
ClinVar Annotator: match by term: Absent iris
CTD Direct Evidence: marker/mechanism
associated with Nystagmus, Congenital;DNA:insertion:exon:c.888insA(human)
ClinVar Annotator: match by OMIM:106210
ClinVar Annotator: match by term: Aniridia, atypical
DNA:frameshift mutation:cds:p.P418SfsX87 (human)
associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human)
DNA:snps, nonsense mutation:introns, cds:IVS5a+1G>A, IVS8-1G>A, p.Q215X (mouse)
DNA:deletions:cds:c.170-174delTGGGC, c.475delC (human)
DNA:nonsense mutation:cds:p.R240X (human)
DNA:deletion:cds:p.Q297HfsX68 (human)
DNA:deletion:cds:p.R38PfsX12 (human)
DNA:deletion, snp:cds:p.R38GfsX16, p.S121L (human)
ClinVar
CTD
PMID:9931324 PMID:17417613 PMID:18322702 PMID:18776953 PMID:25741868 PMID:28492532 PMID:30221735, PMID:9138149, PMID:25366758, PMID:22550392, PMID:22393272, PMID:16080917, PMID:16303964, PMID:19862335, PMID:22815628, PMID:22171157, PMID:20664694, PMID:23734086 RGD:1601209, RGD:12790966, RGD:8552301, RGD:8552277, RGD:8552246, RGD:8551879, RGD:8551870, RGD:8551860, RGD:8551859, RGD:8551858, RGD:8551856 NCBI chr 3:92,128,772...92,157,022 JBrowse link
G Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 2:117,536,929...117,539,338 JBrowse link
G Tifa TRAF-interacting protein with forkhead-associated domain ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:216,257,926...216,267,635 JBrowse link
G Trim44 tripartite motif-containing 44 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:88,597,962...88,729,085 JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:91,566,540...91,613,653 JBrowse link
G Zgrf1 zinc finger, GRF-type containing 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:216,012,911...216,075,608 JBrowse link
Aniridia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc5 doublecortin domain containing 5 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28231309 PMID:28492532 NCBI chr 3:92,718,047...92,896,696 JBrowse link
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28231309 PMID:28492532 NCBI chr 3:92,450,631...92,486,004 JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:11309364 PMID:11431688 PMID:12552561 PMID:12731001 PMID:15150775 PMID:16098226 PMID:17630404 PMID:18483559 PMID:24138039 PMID:24290376 PMID:25741868 PMID:26661695 PMID:27124303 PMID:27431685 PMID:28231309 PMID:28321846 PMID:28492532 PMID:29618921 NCBI chr 3:92,162,271...92,385,251 JBrowse link
G Immp1l inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28231309 PMID:28492532 NCBI chr 3:92,385,329...92,450,557 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Aniridia 1
ClinVar Annotator: match by term: Cataracts, congenital, with late-onset corneal dystrophy
OMIM
ClinVar
PMID:1251879 PMID:1302030 PMID:1345175 PMID:1954207 PMID:6988567 PMID:7550230 PMID:7666404 PMID:7951315 PMID:8111279 PMID:8111379 PMID:8364574 PMID:8640214 PMID:8689689 PMID:9138149 PMID:9482572 PMID:9651515 PMID:9727514 PMID:9792406 PMID:9931324 PMID:10234503 PMID:10737978 PMID:10887930 PMID:11284764 PMID:11309364 PMID:11431688 PMID:11479730 PMID:11553050 PMID:11826019 PMID:12015275 PMID:12552561 PMID:12634864 PMID:12721955 PMID:12731001 PMID:12868034 PMID:14561779 PMID:14744876 PMID:15086958 PMID:15150775 PMID:15579687 PMID:15846561 PMID:15889018 PMID:16098226 PMID:16199547 PMID:16493447 PMID:16712695 PMID:17148041 PMID:17406642 PMID:17417613 PMID:17568989 PMID:17595013 PMID:17630404 PMID:18241071 PMID:18483559 PMID:18776953 PMID:19218613 PMID:19862335 PMID:19876904 PMID:19898691 PMID:20054790 PMID:20577777 PMID:21397818 PMID:21423868 PMID:21848007 PMID:21850189 PMID:22171686 PMID:22361317 PMID:22509105 PMID:22692063 PMID:23734086 PMID:23761016 PMID:24138039 PMID:24390526 PMID:24737507 PMID:25678763 PMID:25741868 PMID:26535646 PMID:26661695 PMID:26694549 PMID:26849621 PMID:27081502 PMID:27124303 PMID:27307692 PMID:27431685 PMID:27455012 PMID:27463523 PMID:28231309 PMID:28321846 PMID:28488383 PMID:28492532 PMID:29217025 PMID:29618921 PMID:29780932 PMID:30167917 PMID:32860008 NCBI chr 3:92,128,772...92,157,022 JBrowse link
G Rcn1 reticulocalbin 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr 3:91,841,052...91,855,295 JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:8975729 PMID:9090524 PMID:15150775 PMID:17630404 PMID:23349334 PMID:24138039 PMID:25741868 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr 3:91,566,540...91,613,653 JBrowse link
Aniridia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Aniridia 2 OMIM
ClinVar
PMID:25741868 PMID:26010655 NCBI chr 3:92,162,271...92,385,251 JBrowse link
Aniridia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trim44 tripartite motif-containing 44 ISO ClinVar Annotator: match by term: ANIRIDIA 3 ClinVar
OMIM
PMID:26394807 NCBI chr 3:88,597,962...88,729,085 JBrowse link
ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 ISO ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 3
ClinVar Annotator: match by OMIM:615217
OMIM
ClinVar
PMID:22065524 PMID:25741868 PMID:28492532 NCBI chr10:53,132,585...53,200,663 JBrowse link
Ataxia-Oculomotor Apraxia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnkp polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 OMIM
ClinVar
PMID:10446192 PMID:18414213 PMID:20118933 PMID:22508754 PMID:23224214 PMID:24033266 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:27066567 PMID:28492532 PMID:29261713 PMID:29655203 PMID:29720203 PMID:30039206 PMID:31061747 NCBI chr 1:95,341,465...95,346,921 JBrowse link
Auditory Neuropathy and Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fdxr ferredoxin reductase ISO ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:28965846 NCBI chr10:100,507,863...100,516,649 JBrowse link
autosomal dominant vitreoretinochoroidopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Vitreoretinochoroidopathy
ClinVar Annotator: match by OMIM:193220
ClinVar Annotator: match by synonym: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
OMIM
ClinVar
PMID:10453731 PMID:10798642 PMID:10854112 PMID:11585313 PMID:11713080 PMID:12543751 PMID:13534955 PMID:14615048 PMID:15452077 PMID:16754206 PMID:17110374 PMID:17898294 PMID:18179881 PMID:18611979 PMID:21192766 PMID:21273940 PMID:21330666 PMID:21809908 PMID:21825197 PMID:22162627 PMID:22183385 PMID:22422030 PMID:23290749 PMID:24033266 PMID:25741868 PMID:26200502 PMID:26333019 PMID:27519691 PMID:28492532 PMID:28687848 PMID:29976937 PMID:30498755 PMID:30718709 PMID:33546218 NCBI chr 1:206,629,340...206,646,085 JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Vitreoretinochoroidopathy ClinVar PMID:10453731 PMID:11713080 PMID:14615048 PMID:17898294 PMID:25741868 PMID:28492532 PMID:28687848 NCBI chr 1:206,627,142...206,629,430 JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar Annotator: match by OMIM:614296
OMIM
ClinVar
PMID:10679252 PMID:11295831 PMID:15605410 PMID:16648378 PMID:17492394 PMID:18544103 PMID:19877185 PMID:20069065 PMID:20875904 PMID:21067485 PMID:21143470 PMID:21538838 PMID:21917145 PMID:22238590 PMID:24033266 PMID:24890733 PMID:25133958 PMID:25326637 PMID:25388789 PMID:25741868 PMID:26346818 PMID:26435059 PMID:26467025 PMID:26875006 PMID:27395765 PMID:28432734 PMID:28492532 PMID:29529044 PMID:30311386 PMID:32567228 NCBI chr14:73,810,478...73,834,993 JBrowse link
basal laminar drusen term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement factor H ISO ClinVar Annotator: match by term: Basal laminar drusen
ClinVar Annotator: match by term: DRUSEN, EARLY ADULT-ONSET, GROUPED
ClinVar Annotator: match by OMIM:126700
OMIM
ClinVar
PMID:8072530 PMID:11158219 PMID:11978762 PMID:12424708 PMID:12697737 PMID:15761120 PMID:15761121 PMID:15761122 PMID:15870199 PMID:15895326 PMID:16229850 PMID:16299065 PMID:16338962 PMID:16601698 PMID:16619239 PMID:16630992 PMID:16710702 PMID:16787919 PMID:16816528 PMID:16936733 PMID:17018561 PMID:17079491 PMID:17198853 PMID:17210858 PMID:17241667 PMID:17293598 PMID:17360715 PMID:17396242 PMID:17398321 PMID:17472578 PMID:17947292 PMID:18235085 PMID:18252232 PMID:18252712 PMID:18557729 PMID:19190809 PMID:19259132 PMID:19297022 PMID:19454698 PMID:19633317 PMID:20016463 PMID:20059470 PMID:20660596 PMID:21317894 PMID:21415311 PMID:21670343 PMID:21909106 PMID:21930971 PMID:21979047 PMID:22019782 PMID:22171659 PMID:22223606 PMID:22389686 PMID:22403278 PMID:22410797 PMID:22456601 PMID:23431077 PMID:23852337 PMID:24036949 PMID:24498017 PMID:25037630 PMID:25741868 PMID:25814826 PMID:25880396 PMID:26559391 PMID:26826462 PMID:28492532 PMID:29410599 PMID:29500241 PMID:29888403 PMID:31447099 NCBI chr13:51,512,376...51,613,829 JBrowse link
bestrophinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Bestrophinopathy, autosomal recessive
ClinVar Annotator: match by OMIM:611809
OMIM
ClinVar
PMID:2133066 PMID:2162627 PMID:9700209 PMID:10788642 PMID:10798642 PMID:10854112 PMID:16754206 PMID:17110374 PMID:17287362 PMID:18179881 PMID:18985398 PMID:20927214 PMID:21192766 PMID:21269699 PMID:21273940 PMID:21330666 PMID:21412020 PMID:21738390 PMID:21809908 PMID:21825197 PMID:21878505 PMID:22183385 PMID:22422030 PMID:23290749 PMID:23572118 PMID:23825107 PMID:24033266 PMID:24560797 PMID:25489231 PMID:25741868 PMID:26200502 PMID:26201355 PMID:26333019 PMID:26720466 PMID:27519691 PMID:28041643 PMID:28492532 PMID:28687848 PMID:29507198 PMID:29555955 PMID:29668979 PMID:29781975 PMID:30593719 PMID:30718709 PMID:32141364 PMID:33546218 NCBI chr 1:206,629,340...206,646,085 JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Bestrophinopathy, autosomal recessive ClinVar PMID:17128490 PMID:17297678 PMID:23379534 PMID:24033266 PMID:25474345 PMID:25741868 PMID:27096895 PMID:27258436 PMID:27628848 PMID:28041643 PMID:28181551 PMID:28492532 PMID:28819299 PMID:29391521 PMID:33546218 NCBI chr13:50,801,484...50,989,261 JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Bestrophinopathy, autosomal recessive ClinVar PMID:15370544 PMID:16113362 PMID:16799052 PMID:22466463 PMID:25001182 PMID:25082885 PMID:25097241 PMID:25741868 PMID:28492532 PMID:33546218 NCBI chr 9:14,066,149...14,081,454 JBrowse link
Bietti crystalline corneoretinal dystrophy 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: Bietti crystalline corneoretinal dystrophy ClinVar PMID:9054934 PMID:10958761 PMID:23755871 PMID:24938718 PMID:25312043 PMID:25741868 PMID:26780318 PMID:28041643 PMID:28492532 PMID:29186038 PMID:30718709 PMID:33546218 NCBI chr 2:210,164,813...210,302,069 JBrowse link
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy
ClinVar Annotator: match by term: Bietti Crystalline Dystrophy
ClinVar Annotator: match by OMIM:210370
OMIM
ClinVar
PMID:15042513 PMID:15937078 PMID:16179904 PMID:17962476 PMID:18398705 PMID:21565171 PMID:22497028 PMID:22693542 PMID:22772592 PMID:23221965 PMID:23661369 PMID:24033266 PMID:24480711 PMID:24739949 PMID:25118264 PMID:25356976 PMID:25593508 PMID:25611614 PMID:25741868 PMID:26971461 PMID:28051075 PMID:28492532 PMID:28848678 PMID:29691984 PMID:30429639 PMID:33546218 NCBI chr16:46,917,929...46,958,735 JBrowse link
Blepharophimosis Syndrome Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Blepharophimosis syndrome type 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12567411 PMID:12630957 PMID:12938087 PMID:16219626 PMID:17089161 PMID:18372316 PMID:20429427 PMID:21889601 PMID:25741868 NCBI chr 8:99,512,971...99,514,500 JBrowse link
Blepharophimosis Syndrome Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Blepharophimosis syndrome type 2 ClinVar PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:18372316 PMID:21325395 PMID:25741868 NCBI chr 8:99,512,971...99,514,500 JBrowse link
blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr 8:99,161,324...99,183,452 JBrowse link
G Foxl2 forkhead box L2 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus
ClinVar Annotator: match by term: BPES with Duane retraction syndrome
ClinVar Annotator: match by term: BPES with ovarian failure
ClinVar Annotator: match by term: BPES without ovarian failure
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:110100
ClinVar
CTD
OMIM
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:19429596 PMID:25741868, PMID:11175783 RGD:1598958 NCBI chr 8:99,512,971...99,514,500 JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr 8:99,184,110...99,197,278 JBrowse link
Bosch-Boonstra-Schaaf optic atrophy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam172a family with sequence similarity 172, member A ISO ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:7,553,873...8,018,183 JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome
ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome
ClinVar Annotator: match by OMIM:615722
OMIM
ClinVar
PMID:18414213 PMID:24462372 PMID:25326637 PMID:25741868 PMID:25741869 PMID:26138355 PMID:26350515 PMID:26986877 PMID:28963436 PMID:29410510 PMID:31393201 PMID:31729143 PMID:32712214 NCBI chr 2:8,040,375...8,050,123 JBrowse link
G Pou5f2 POU domain class 5, transcription factor 2 ISO ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:7,907,504...7,908,738 JBrowse link
G RGD1560883 similar to KIAA0825 protein ISO ClinVar Annotator: match by term: Bosch-boonstra-schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:6,874,474...7,437,032 JBrowse link
Bothnia retinal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: VASTERBOTTEN DYSTROPHY
ClinVar Annotator: match by term: Bothnia retinal dystrophy
OMIM
ClinVar
PMID:10102298 PMID:10102299 PMID:11449319 PMID:12536144 PMID:15953459 PMID:19846785 PMID:20238024 PMID:22171637 PMID:22183382 PMID:25326637 PMID:25429852 PMID:25741868 PMID:26355662 PMID:28492532 NCBI chr 1:133,308,920...133,322,296 JBrowse link
bradyopsia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rgs9 regulator of G-protein signaling 9 ISO ClinVar Annotator: match by term: Bradyopsia OMIM
ClinVar
PMID:14702087 PMID:17826834 PMID:19818506 PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr10:94,195,265...94,270,892 JBrowse link
G Rgs9bp regulator of G protein signaling 9 binding protein ISO ClinVar Annotator: match by term: Bradyopsia
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:14702087 PMID:25741868 NCBI chr 1:88,249,438...88,250,151 JBrowse link
Brown Oculocutaneous Albinism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Oca2 OCA2 melanosomal transmembrane protein ISO DNA:deletion:exon:699_859del (human)
ClinVar Annotator: match by term: Brown oculocutaneous albinism
ClinVar PMID:7920637 PMID:11179026 PMID:17767372, PMID:11179026 RGD:9491819 NCBI chr 1:107,116,278...107,446,093 JBrowse link
buphthalmos term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 susceptibility ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
ClinVar Annotator: match by term: Congenital glaucoma
ClinVar Annotator: match by term: Glaucoma, congenital
ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset
ClinVar Annotator: match by OMIM:231300
DNA:missense mutation:cds:p.A388T (human)
DNA:missense mutation, deletion:exon:p.R390H, g.4633delC (human)
DNA:duplication:exon:g.1546-1555dupTCATGCCACC (human)
DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N (human)
DNA:missense mutations:exons:p.G61E, p.R469W, p.R523K (human)
DNA:deletion, snp:exons:g.4339delG, p.G61E (human)
DNA:snp:cds:p.E387K (human)
DNA:polymorphisms:multiple (human)
OMIM
ClinVar
PMID:9097971 PMID:9463332 PMID:9497261 PMID:9536098 PMID:10227395 PMID:10426814 PMID:10655546 PMID:10739169 PMID:10910054 PMID:11403040 PMID:11527932 PMID:11558822 PMID:11774072 PMID:11854439 PMID:11980847 PMID:12036985 PMID:12372064 PMID:14507861 PMID:15037581 PMID:15255109 PMID:15342693 PMID:15621878 PMID:16384942 PMID:16688110 PMID:16735991 PMID:16735994 PMID:16862072 PMID:17164573 PMID:17363580 PMID:17563717 PMID:17576681 PMID:17591938 PMID:17718864 PMID:18227148 PMID:18414103 PMID:18470941 PMID:18537981 PMID:18622259 PMID:18852424 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19247456 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:19807744 PMID:20151268 PMID:20198978 PMID:20664688 PMID:21081970 PMID:21168818 PMID:21600657 PMID:21815720 PMID:21850185 PMID:21854771 PMID:22004014 PMID:22128238 PMID:22942166 PMID:23028769 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24281366 PMID:24940937 PMID:25091052 PMID:25109919 PMID:25333069 PMID:25527694 PMID:25646030 PMID:25741868 PMID:25950505 PMID:25978063 PMID:26550974 PMID:27060699 PMID:27243976 PMID:27272408 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27777502 PMID:27820421 PMID:28192799 PMID:28384041 PMID:28448622 PMID:28492532 PMID:28620713 PMID:28644236 PMID:29556725 PMID:30653986 PMID:30788381 PMID:32224865 PMID:32499604 PMID:32832252 PMID:32860008 PMID:94927261, PMID:16490498, PMID:19247456, PMID:12567107, PMID:19597567, PMID:19593207, PMID:20664688, PMID:10227395, PMID:23922489, PMID:12624268 RGD:7800719, RGD:7800711, RGD:7800707, RGD:7800689, RGD:7800688, RGD:7800680, RGD:7800670, RGD:7800657, RGD:734869 NCBI chr 6:15,342,312...15,350,886 JBrowse link
G Foxc1 forkhead box C1 ISS OMIM:231300 MouseDO NCBI chr17:32,631,379...32,635,361 JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Glaucoma, congenital ClinVar PMID:19656777 NCBI chr 6:104,429,947...104,530,498 JBrowse link
G Myoc myocilin ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, a, digenic ClinVar PMID:12447164 PMID:15025728 PMID:15723004 PMID:15733270 PMID:16288197 PMID:17563717 PMID:22194650 PMID:22736945 PMID:28492532 NCBI chr13:74,976,730...74,987,128 JBrowse link
G Rmdn2 regulator of microtubule dynamics 2 ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar NCBI chr 6:15,372,569...15,443,000 JBrowse link
G Tyr tyrosinase ISS OMIM:231300 MouseDO NCBI chr 1:141,115,036...141,210,207 JBrowse link
cataract 17 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba4 crystallin, beta A4 ISO ClinVar Annotator: match by term: Cataract, congenital nuclear, autosomal recessive 3 ClinVar PMID:17460281 PMID:20565250 PMID:25741868 PMID:28492532 PMID:33223529 NCBI chr12:44,378,734...44,393,226 JBrowse link
G Crybb1 crystallin, beta B1 ISO ClinVar Annotator: match by term: Cataract, congenital nuclear, autosomal recessive 3
ClinVar Annotator: match by OMIM:611544
OMIM
ClinVar
PMID:9536098 PMID:12360425 PMID:16110300 PMID:17460281 PMID:17576681 PMID:20565250 PMID:21972112 PMID:25741868 PMID:28492532 PMID:33223529 NCBI chr12:44,369,734...44,383,344 JBrowse link
cataract 22 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crybb3 crystallin, beta B3 ISO ClinVar Annotator: match by term: Cataract, congenital nuclear, autosomal recessive 2
ClinVar Annotator: match by OMIM:609741
OMIM
ClinVar
PMID:15914629 PMID:19182255 PMID:23508780 PMID:24940039 PMID:25741868 PMID:26694549 PMID:27307692 PMID:28492532 NCBI chr12:43,557,103...43,562,120 JBrowse link
Cavitary Optic Disc Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp19 matrix metallopeptidase 19 ISO ClinVar Annotator: match by term: Cavitary optic disc anomalies OMIM
ClinVar
PMID:10764862 PMID:25581579 NCBI chr 7:1,221,229...1,229,555 JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 5
ClinVar Annotator: match by OMIM:311070
OMIM
ClinVar
PMID:17701900 PMID:24285972 PMID:25182139 PMID:25491489 PMID:28492532 NCBI chr  X:104,132,139...104,154,191 JBrowse link
Chediak-Higashi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:51,334,921...51,377,469 JBrowse link
G Gng4 G protein subunit gamma 4 ISO ClinVar Annotator: match by term: Chédiak-Higashi syndrome ClinVar PMID:28492532 NCBI chr17:86,448,708...86,497,560 JBrowse link
G Lyst lysosomal trafficking regulator IAGP
ISO
ClinVar Annotator: match by term: Chédiak-Higashi syndrome
ClinVar Annotator: match by term: Chediak-Higashi Syndrome
ClinVar Annotator: match by OMIM:214500
ClinVar
OMIM
PMID:8717042 PMID:8751863 PMID:8896560 PMID:9215679 PMID:9215680 PMID:9536098 PMID:10482950 PMID:10648412 PMID:11857544 PMID:17554367 PMID:17576681 PMID:18485661 PMID:21878672 PMID:24033266 PMID:24072239 PMID:24112114 PMID:25047945 PMID:25640679 PMID:25741868 PMID:26597256 PMID:27781387 PMID:27872624 PMID:28145517 PMID:28193763 PMID:28458669 PMID:28492532 PMID:30383631 PMID:30899265 PMID:31906877, PMID:10384041 RGD:633300 NCBI chr17:86,241,384...86,443,501 JBrowse link
Choroideremia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chm CHM Rab escort protein ISO ClinVar Annotator: match by OMIM:303100
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Choroideremia, salla type
OMIM
ClinVar
PMID:1044764 PMID:1302003 PMID:1598901 PMID:7981670 PMID:8477262 PMID:9067750 PMID:9175730 PMID:10447648 PMID:11139690 PMID:12203991 PMID:12827496 PMID:16087855 PMID:16199547 PMID:16936131 PMID:21905166 PMID:22957832 PMID:23811034 PMID:25741868 PMID:25912515 PMID:26133251 PMID:27247961 PMID:28098911 PMID:28492532 PMID:28559085 NCBI chr  X:78,203,200...78,361,996 JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Progressive tapetochoroidal dystrophy ClinVar PMID:9536098 PMID:11139241 PMID:17576681 PMID:25675413 PMID:25741868 PMID:26842753 PMID:28492532 NCBI chr 9:14,066,149...14,081,454 JBrowse link
Chromosome 11p Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:28492532 NCBI chr 3:92,162,271...92,385,251 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532 NCBI chr 3:92,128,772...92,157,022 JBrowse link
Chromosome Xp11.3 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rp2 RP2 activator of ARL3 GTPase ISO OMIM NCBI chr  X:1,872,581...1,916,704 JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM
PMID:27889061 NCBI chr 4:130,409,020...130,621,145 JBrowse link
Cone Dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Cone dystrophy 4 OMIM
ClinVar
PMID:9536098 PMID:10393054 PMID:17576681 PMID:18614542 PMID:19615668 PMID:21127010 PMID:25326637 PMID:25741868 PMID:28041643 PMID:28492532 PMID:30080950 PMID:33546218 NCBI chr 1:235,909,473...235,965,460 JBrowse link
cone-rod dystrophy 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: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar PMID:9054934 PMID:9295268 PMID:9466990 PMID:9536098 PMID:9666097 PMID:9781034 PMID:9973280 PMID:10090887 PMID:10413692 PMID:10458172 PMID:10612508 PMID:10634594 PMID:10711710 PMID:10880298 PMID:10958761 PMID:10958763 PMID:11017087 PMID:11328725 PMID:11346402 PMID:11527935 PMID:11702214 PMID:11726554 PMID:11857735 PMID:11919200 PMID:11973624 PMID:12037008 PMID:12192456 PMID:12515255 PMID:12796258 PMID:14517951 PMID:14971589 PMID:15108289 PMID:15192030 PMID:15494742 PMID:15516930 PMID:16103129 PMID:16123440 PMID:16199547 PMID:16303926 PMID:16400609 PMID:17576681 PMID:17724221 PMID:17982420 PMID:18024811 PMID:18285826 PMID:18854780 PMID:18977788 PMID:19028736 PMID:19074458 PMID:19243736 PMID:19365591 PMID:20029649 PMID:20335603 PMID:20696155 PMID:20981092 PMID:21911583 PMID:22025579 PMID:22229821 PMID:22264887 PMID:22449572 PMID:22661472 PMID:22735453 PMID:22968130 PMID:22995991 PMID:23096905 PMID:23143460 PMID:23144455 PMID:23419329 PMID:23695285 PMID:23755871 PMID:23940504 PMID:23949494 PMID:23953153 PMID:23982839 PMID:24011517 PMID:24033266 PMID:24082139 PMID:24097981 PMID:24154662 PMID:24265693 PMID:24453473 PMID:24713488 PMID:24938718 PMID:25066811 PMID:25082885 PMID:25087612 PMID:25097241 PMID:25283059 PMID:25312043 PMID:25333069 PMID:25346251 PMID:25356976 PMID:25444351 PMID:25472526 PMID:25474345 PMID:25741868 PMID:25910913 PMID:26103963 PMID:26247787 PMID:26593885 PMID:26780318 PMID:26872967 PMID:27014590 PMID:27628848 PMID:27739528 PMID:27820952 PMID:28041643 PMID:28118664 PMID:28166811 PMID:28224992 PMID:28430335 PMID:28446513 PMID:28492532 PMID:28559085 PMID:29114839 PMID:29145636 PMID:29162642 PMID:29310964 PMID:29555955 PMID:29854428 PMID:29925512 PMID:29971439 PMID:29975949 PMID:30054919 PMID:30060493 PMID:30093795 PMID:30718709 PMID:31015497 PMID:31212395 PMID:31576780 PMID:32307445 PMID:32619608 PMID:33546218 NCBI chr 2:210,164,813...210,302,069 JBrowse link
G Acbd5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:28492532 NCBI chr17:85,206,178...85,248,909 JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar PMID:19409519 PMID:25741868 PMID:28492532 NCBI chr16:67,022,538...67,101,647 JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
ClinVar PMID:15322546 PMID:16155189 PMID:16453322 PMID:25525159 PMID:25616960 PMID:25741868 PMID:26092869 PMID:28118669 PMID:28492532 NCBI chr 1:15,768,047...15,886,744 JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Cone-rod degeneration ClinVar PMID:17594715 PMID:26047050 PMID:26077327 PMID:28492532 PMID:29588463 NCBI chr 4:118,125,581...118,226,005 JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 NCBI chr 1:206,629,340...206,646,085 JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar PMID:19074807 PMID:23714322 PMID:25307992 PMID:28492532 PMID:29525873 PMID:30718709 NCBI chr 1:201,428,671...201,442,950 JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:28492532 PMID:30718709 NCBI chr  X:14,868,096...14,896,413 JBrowse link
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar PMID:16199547 PMID:23044944 PMID:23233793 PMID:23591405 PMID:24033266 PMID:25741868 PMID:26103963 PMID:26261414 PMID:27353947 PMID:28224992 PMID:28492532 PMID:28765526 PMID:28885867 PMID:30718709 PMID:33546218 NCBI chr16:12,843,436...12,863,321 JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar PMID:16909394 PMID:17345604 PMID:20690115 PMID:25377065 PMID:25741868 PMID:28492532 PMID:28559085 PMID:30193310 PMID:30718709 NCBI chr 7:35,310,071...35,399,392 JBrowse link
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 1:213,246,183...213,275,275 JBrowse link
G Cerkl ceramide kinase-like ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:14681825 PMID:15708351 PMID:21151602 PMID:22164218 PMID:24043777 PMID:24123366 PMID:24625443 PMID:25097241 PMID:25741868 PMID:25999674 PMID:28041643 PMID:28492532 PMID:30718709 PMID:221642182 NCBI chr 3:64,238,714...64,344,695 JBrowse link
G Cfap418 cilia and flagella associated protein 418 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar NCBI chr 5:23,996,395...24,015,609 JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 1:181,156,071...181,169,458 JBrowse link
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:7479749 PMID:24033266 PMID:24265693 PMID:25326637 PMID:25741868 PMID:28492532 PMID:28981474 PMID:30718709 NCBI chr14:35,566,947...35,605,065 JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Cone-rod degeneration ClinVar PMID:11536077 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30289319 NCBI chr 9:39,447,532...39,497,883 JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:1347967 PMID:10888875 PMID:10958649 PMID:11124331 PMID:12815043 PMID:14757870 PMID:15657609 PMID:15712225 PMID:16379026 PMID:17265047 PMID:23805033 PMID:24033266 PMID:25741868 PMID:25770143 PMID:28041643 PMID:28166811 PMID:28492532 PMID:28795510 PMID:30718709 PMID:32860008 PMID:33546218 NCBI chr 5:32,746,988...32,995,121 JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO DNA:missense mutation:cds:p.C27F(c.80G¿¿¿>¿¿¿T)(human)
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar PMID:25741868, PMID:23767994 RGD:13451130 NCBI chr13:50,801,484...50,989,261 JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar PMID:30718709 NCBI chr 1:76,540,141...76,545,818 JBrowse link
G Fam161a FAM161 centrosomal protein A ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:20705278 PMID:24651477 PMID:25097241 PMID:25525159 PMID:25741868 PMID:25999674 PMID:26113502 PMID:26574802 PMID:28492532 PMID:30718709 NCBI chr14:97,009,449...97,027,865 JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:13,587,695...13,598,566 JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar PMID:25741868 PMID:28492532 NCBI chr10:53,954,918...53,975,576 JBrowse link
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:148,905,031...148,975,458 JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 NCBI chr15:31,573,325...31,666,068 JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar PMID:19668216 PMID:23034536 PMID:23386033 PMID:23847139 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28559085 PMID:29186038 NCBI chr 3:9,216,776...9,229,539 JBrowse link
G Itga4 integrin subunit alpha 4 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:25741868 NCBI chr 3:64,162,764...64,235,010 JBrowse link
G Lrat lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 NCBI chr 2:168,264,093...168,273,155 JBrowse link
G Mir103a2 microRNA 103a-2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chr 3:118,510,194...118,510,279 JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:24088041 PMID:25741868 PMID:26633545 PMID:32313153 PMID:32906214
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 5:159,910,242...159,928,201 JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:10655056 PMID:15453866 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 PMID:19718767 PMID:21217109 PMID:23039133 PMID:23591405 PMID:23989059 PMID:24474277 PMID:25079116 PMID:25097241 PMID:25703721 PMID:25741868 PMID:26894784 PMID:27573156 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28559085 PMID:28771251 PMID:29193891 PMID:29343940 PMID:29431110 PMID:30324420 PMID:30718709 NCBI chr 8:60,365,581...60,373,383 JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chr 3:118,483,382...118,519,551 JBrowse link
G Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Cone-rod degeneration ClinVar PMID:20398886 PMID:24339724 PMID:26496393 PMID:28492532 PMID:28763557 NCBI chr 6:23,749,700...23,758,419 JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar PMID:25741868 PMID:30718709 NCBI chr14:1,323,310...1,366,450 JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar NCBI chr 1:235,909,473...235,965,460 JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant ClinVar PMID:28492532 NCBI chr10:56,674,697...56,766,552 JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:24355708 PMID:25480986 PMID:25741868 PMID:28492532 PMID:31135245 NCBI chr12:1,574,387...1,603,735 JBrowse link
G Poc1b POC1 centriolar protein B ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 7:33,924,035...34,025,908 JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY
ClinVar PMID:10205271 PMID:16199547 PMID:17605048 PMID:19718270 PMID:23591405 PMID:23757202 PMID:24154662 PMID:24474277 PMID:25741868 PMID:25999674 PMID:26103963 PMID:26261540 PMID:26702251 PMID:27874104 PMID:28041643 PMID:28492532 NCBI chr14:66,989,545...67,094,534 JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone Rod Dystrophy
ClinVar PMID:7493155 PMID:8015786 PMID:8302543 PMID:8485576 PMID:8675410 PMID:8747448 PMID:8994365 PMID:9010868 PMID:9443872 PMID:9536098 PMID:11139241 PMID:14510799 PMID:14557183 PMID:15370544 PMID:15779916 PMID:16113362 PMID:16799052 PMID:17576681 PMID:18310263 PMID:19038374 PMID:20213611 PMID:22183351 PMID:22466463 PMID:24463884 PMID:24629188 PMID:25001182 PMID:25082885 PMID:25097241 PMID:25474345 PMID:25675413 PMID:25741868 PMID:26161267 PMID:26842753 PMID:28492532 PMID:30718709 PMID:32531846 PMID:33546218 NCBI chr 9:14,066,149...14,081,454 JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Cone-rod degeneration ClinVar PMID:23746546 NCBI chr14:69,245,846...69,322,968 JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Cone-rod degeneration ClinVar PMID:15258582 PMID:16269441 PMID:20006610 PMID:22065924 PMID:24474277 PMID:25741868 PMID:27032803 PMID:28492532 PMID:32014858 NCBI chr 6:98,015,465...98,028,388 JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:30193310 NCBI chr 7:35,396,876...35,408,633 JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:7981701 PMID:8088850 PMID:9380676 PMID:11139241 PMID:12871954 PMID:17488458 PMID:19913029 PMID:21094163 PMID:21219898 PMID:25741868 PMID:28492532 PMID:29847639 PMID:30240733 PMID:30718709 NCBI chr 4:148,975,597...148,988,693 JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant ClinVar PMID:28492532 NCBI chr 9:24,696,959...25,196,368 JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chr 2:248,766,497...248,798,403 JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:30718709 NCBI chr  X:12,566,447...12,628,171 JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar PMID:11528500 PMID:16272259 PMID:23105016 PMID:25741868 PMID:28492532 PMID:30072743 NCBI chr15:24,814,576...24,867,522 JBrowse link
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:28794130 NCBI chr 8:55,932,717...56,332,222 JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar PMID:28492532 NCBI chr 2:173,896,432...173,917,903 JBrowse link
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:23847139 PMID:25741868 PMID:27735924 PMID:28492532 PMID:28559085 NCBI chr 3:114,428,854...114,458,194 JBrowse link
G Trpm6 transient receptor potential cation channel, subfamily M, member 6 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:28041643 PMID:32581362 NCBI chr 1:216,136,407...216,320,523 JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 6:105,483,091...105,700,920 JBrowse link
G Unc119 unc-119 lipid binding chaperone ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar PMID:11006213 PMID:22184408 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:63,237,862...63,243,339 JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 PMID:12112664 PMID:12525556 PMID:14970843 PMID:15015129 PMID:15025721 PMID:15043528 PMID:15241801 PMID:15325563 PMID:15326663 PMID:16963483 PMID:17405132 PMID:18273898 PMID:18641288 PMID:18665195 PMID:19881469 PMID:20145675 PMID:20301515 PMID:20507924 PMID:20513143 PMID:21569298 PMID:22135276 PMID:22581970 PMID:24033266 PMID:24088041 PMID:24160897 PMID:24498627 PMID:24607488 PMID:24944099 PMID:25097241 PMID:25404053 PMID:25575603 PMID:25649381 PMID:25741868 PMID:25991456 PMID:26338283 PMID:26633545 PMID:26872967 PMID:26927203 PMID:27208204 PMID:27460420 PMID:27957503 PMID:28041643 PMID:28492532 PMID:28512305 PMID:29953849 PMID:30718709 NCBI chr13:99,837,445...100,503,935 JBrowse link
cone-rod dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6b phosphodiesterase 6B ISO Cone-rod dystrophy 1 OMIA PMID:15064680 PMID:22065099 PMID:24045995 NCBI chr14:1,323,310...1,366,450 JBrowse link
cone-rod dystrophy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Cone-rod dystrophy 10
ClinVar Annotator: match by OMIM:610283
OMIM
ClinVar
PMID:16199541 PMID:24033266 PMID:25307848 PMID:25741868 PMID:26103963 PMID:28492532 NCBI chr 2:173,896,432...173,917,903 JBrowse link
cone-rod dystrophy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 12
ClinVar Annotator: match by OMIM:612657
OMIM
ClinVar
PMID:10205271 PMID:12657606 PMID:16199547 PMID:17605048 PMID:18654668 PMID:19718270 PMID:20393116 PMID:20554613 PMID:20859302 PMID:22183351 PMID:22581970 PMID:23591405 PMID:24154662 PMID:24265693 PMID:24474277 PMID:25356976 PMID:25741868 PMID:25910913 PMID:25999674 PMID:26103963 PMID:26161267 PMID:26261540 PMID:26355662 PMID:26393467 PMID:26702251 PMID:27874104 PMID:28041643 PMID:28095140 PMID:28492532 PMID:28559085 PMID:29555955 PMID:29847639 PMID:30718709 PMID:33546218 NCBI chr14:66,989,545...67,094,534 JBrowse link
cone-rod dystrophy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13 ClinVar PMID:11528500 PMID:23105016 PMID:28492532 NCBI chr15:24,905,789...24,965,461 JBrowse link
G Mettl3 methyltransferase-like 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13 ClinVar PMID:11528500 PMID:23105016 PMID:28492532 NCBI chr15:25,002,505...25,014,097 JBrowse link
G Rab2b RAB2B, member RAS oncogene family ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13 ClinVar PMID:11528500 PMID:23105016 PMID:28492532 NCBI chr15:24,968,364...24,988,990 JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13
ClinVar Annotator: match by OMIM:608194
OMIM
ClinVar
PMID:9536098 PMID:11283794 PMID:11528500 PMID:12920076 PMID:14971589 PMID:15024725 PMID:15800011 PMID:16123401 PMID:16199547 PMID:16272259 PMID:16339905 PMID:16374347 PMID:17576681 PMID:17964524 PMID:18055816 PMID:18682808 PMID:20079931 PMID:21153841 PMID:21224891 PMID:21857984 PMID:22025579 PMID:22261762 PMID:22277662 PMID:23105016 PMID:23213406 PMID:23847139 PMID:24123792 PMID:24265693 PMID:24997176 PMID:25326637 PMID:25445212 PMID:25741868 PMID:26047050 PMID:26355662 PMID:26667666 PMID:26872967 PMID:26893459 PMID:27884173 PMID:28041643 PMID:28378820 PMID:28492532 PMID:28559085 PMID:28714225 PMID:29178642 PMID:29844330 PMID:30072743 PMID:30202406 PMID:30576320 PMID:32860008 NCBI chr15:24,814,576...24,867,522 JBrowse link
G Sall2 spalt-like transcription factor 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13 ClinVar PMID:11528500 PMID:23105016 PMID:28492532 NCBI chr15:25,021,345...25,038,918 JBrowse link
G Supt16h SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13 ClinVar PMID:11528500 PMID:23105016 PMID:28492532 NCBI chr15:24,867,697...24,904,818 JBrowse link
G Tox4 TOX high mobility group box family member 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13 ClinVar PMID:11528500 PMID:23105016 PMID:28492532 NCBI chr15:24,989,246...25,002,833 JBrowse link
cone-rod dystrophy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Cone dystrophy 3
ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 14
ClinVar PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr 4:152,408,657...152,524,614 JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Cone dystrophy 3
ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 14
OMIM
ClinVar
PMID:9425234 PMID:9651312 PMID:9702199 PMID:11146732 PMID:11484154 PMID:15505030 PMID:15735604 PMID:15790869 PMID:15953638 PMID:18706439 PMID:19459154 PMID:23472098 PMID:24024198 PMID:24352742 PMID:24875811 PMID:25741868 PMID:26358777 PMID:26766544 PMID:28025326 PMID:28041643 PMID:28166811 PMID:28442884 PMID:28492532 PMID:28559085 PMID:29555955 PMID:30184081 PMID:30622141 PMID:30718709 PMID:31728034 PMID:31979372 PMID:32025184 PMID:33546218 NCBI chr 9:13,587,695...13,598,566 JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 14 ClinVar PMID:15505030 PMID:25741868 PMID:28492532 NCBI chr 9:13,599,619...13,607,455 JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 14 ClinVar PMID:23885164 PMID:25741868 PMID:28492532 NCBI chr 1:224,999,552...225,014,062 JBrowse link
G LOC100912849 uncharacterized LOC100912849 ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar NCBI chr 9:13,560,663...13,582,987 JBrowse link
G Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar NCBI chr 4:169,857,793...169,872,969 JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar PMID:17936999 PMID:23484092 PMID:25741868 PMID:28492532 NCBI chr 4:148,975,597...148,988,693 JBrowse link
cone-rod dystrophy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 65
ClinVar Annotator: match by term: Cone-rod dystrophy 15
ClinVar Annotator: match by synonym: Retinitis pigmentosa 65
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:20087419 PMID:20805371 PMID:23044944 PMID:23591405 PMID:24033266 PMID:24154662 PMID:25741868 PMID:26103963 PMID:26261414 PMID:26766544 PMID:27353947 PMID:27623334 PMID:28041643 PMID:28224992 PMID:28418496 PMID:28492532 PMID:28765526 PMID:28885867 PMID:29785639 PMID:30576320 PMID:30718709 PMID:30992995 PMID:33546218 NCBI chr16:12,843,436...12,863,321 JBrowse link
cone-rod dystrophy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap418 cilia and flagella associated protein 418 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 64
ClinVar Annotator: match by term: Cone-rod dystrophy 16
ClinVar Annotator: match by OMIM:614500
OMIM
ClinVar
PMID:22177090 PMID:25741868 PMID:25802487 PMID:26355662 PMID:26854863 PMID:26865426 PMID:27008867 PMID:28492532 PMID:29843741 NCBI chr 5:23,996,395...24,015,609 JBrowse link
cone-rod dystrophy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Cone-rod dystrophy 18
ClinVar Annotator: match by OMIM:615374
OMIM
ClinVar
PMID:23746546 PMID:23806086 PMID:24088041 PMID:25356532 PMID:25741868 PMID:28492532 NCBI chr14:69,245,846...69,322,968 JBrowse link
cone-rod dystrophy 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 19 OMIM
ClinVar
PMID:24791901 PMID:25741868 PMID:27162334 PMID:28173158 PMID:28492532 NCBI chr 6:105,483,091...105,700,920 JBrowse link
cone-rod dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 ClinVar PMID:25741868 NCBI chr10:56,655,693...56,664,922 JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:120970
OMIM
ClinVar
PMID:9390563 PMID:9427255 PMID:9792858 PMID:10766140 PMID:10916183 PMID:11139241 PMID:11748859 PMID:11971869 PMID:15531334 PMID:16123401 PMID:17964524 PMID:18682808 PMID:22960069 PMID:23049240 PMID:24265693 PMID:25741868 PMID:26161267 PMID:26355662 PMID:28492532 PMID:29068479 PMID:30543658 PMID:30718709 PMID:31215831 PMID:33546218 NCBI chr 1:76,540,141...76,545,818 JBrowse link
G Iqcb1 IQ motif containing B1 ISO Cone-rod dystrophy 2 OMIA PMID:15064680 PMID:22065099 PMID:24045995 PMID:27506978 PMID:33781914 NCBI chr11:63,905,595...63,960,141 JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2
ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2
ClinVar PMID:10205271 PMID:17605048 PMID:19718270 PMID:24154662 PMID:25741868 PMID:25999674 PMID:26103963 PMID:26153215 PMID:26261540 PMID:27874104 PMID:28041643 PMID:28492532 NCBI chr14:66,989,545...67,094,534 JBrowse link
cone-rod dystrophy 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Poc1b POC1 centriolar protein B ISO ClinVar Annotator: match by term: Cone-rod dystrophy 20 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:24945461 PMID:25018096 PMID:25044745 PMID:25741868 PMID:28492532 PMID:32244552 NCBI chr 7:33,924,035...34,025,908 JBrowse link
Cone-Rod Dystrophy 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dram2 DNA-damage regulated autophagy modulator 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 21 OMIM
ClinVar
PMID:25983245 PMID:28492532 NCBI chr 2:194,035,624...194,064,415 JBrowse link
cone-rod dystrophy 3 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: Cone-rod dystrophy 3
ClinVar Annotator: match by OMIM:604116
OMIM
ClinVar
PMID:9054934 PMID:9295268 PMID:9466990 PMID:9490294 PMID:9503029 PMID:9536098 PMID:9666097 PMID:9781034 PMID:9973280 PMID:10090887 PMID:10206579 PMID:10396622 PMID:10413692 PMID:10458172 PMID:10612508 PMID:10634594 PMID:10711710 PMID:10880298 PMID:10958761 PMID:10958763 PMID:11017087 PMID:11123914 PMID:11328725 PMID:11379881 PMID:11385708 PMID:11527935 PMID:11702214 PMID:11726554 PMID:11919200 PMID:11973624 PMID:12037008 PMID:12192456 PMID:12515255 PMID:12592048 PMID:12796258 PMID:15161829 PMID:15192030 PMID:15516930 PMID:15579991 PMID:15614537 PMID:16103129 PMID:16123440 PMID:16303926 PMID:16400609 PMID:16546111 PMID:16682602 PMID:17277736 PMID:17296903 PMID:17325136 PMID:17576681 PMID:17982420 PMID:18285826 PMID:18414213 PMID:18854780 PMID:19074458 PMID:19217903 PMID:20554613 PMID:20647261 PMID:20696155 PMID:20981092 PMID:21786275 PMID:21911583 PMID:22025579 PMID:22229821 PMID:22264887 PMID:22312191 PMID:22328824 PMID:22427542 PMID:22449572 PMID:22661472 PMID:22661473 PMID:22968130 PMID:23143460 PMID:23144455 PMID:23419329 PMID:23443024 PMID:23591405 PMID:23695285 PMID:23755871 PMID:23769331 PMID:23776498 PMID:23953153 PMID:23982839 PMID:24011517 PMID:24033266 PMID:24082139 PMID:24154662 PMID:24265693 PMID:24444108 PMID:24453473 PMID:24509150 PMID:24632595 PMID:24713488 PMID:24763286 PMID:24938718 PMID:25066811 PMID:25082885 PMID:25087612 PMID:25097241 PMID:25283059 PMID:25312043 PMID:25333069 PMID:25412400 PMID:25472526 PMID:25525159 PMID:25544989 PMID:25640233 PMID:25698705 PMID:25712131 PMID:25741868 PMID:25910913 PMID:25921964 PMID:26161775 PMID:26247787 PMID:26261413 PMID:26355662 PMID:26527198 PMID:26593885 PMID:26780318 PMID:26872967 PMID:26976702 PMID:27032803 PMID:27535533 PMID:27583828 PMID:27775217 PMID:27939946 PMID:28041643 PMID:28118664 PMID:28166811 PMID:28181551 PMID:28327576 PMID:28446513 PMID:28492532 PMID:28559085 PMID:28947085 PMID:29114839 PMID:29162642 PMID:29310964 PMID:29343940 PMID:29461686 PMID:29555955 PMID:29847635 PMID:29854428 PMID:29925512 PMID:29971439 PMID:29975949 PMID:30060493 PMID:30093795 PMID:30576320 PMID:30718709 PMID:31576780 PMID:32307445 PMID:33223529 PMID:33546218 PMID:92952680 NCBI chr 2:210,164,813...210,302,069 JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO Cone-rod dystrophy 3 OMIA PMID:20691256 PMID:20806078 PMID:22065099 NCBI chr16:67,022,538...67,101,647 JBrowse link
cone-rod dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pimreg PICALM interacting mitotic regulator ISO ClinVar Annotator: match by term: Cone-rod dystrophy 5 ClinVar NCBI chr10:56,669,603...56,674,540 JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 5 OMIM
ClinVar
PMID:8586428 PMID:17377520 PMID:22405330 PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr10:56,674,697...56,766,552 JBrowse link
cone-rod dystrophy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr10:53,863,060...53,874,938 JBrowse link
G Alox15b arachidonate 15-lipoxygenase, type B ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr10:53,892,496...53,901,812 JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr10:53,830,219...53,854,328 JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr 1:206,629,340...206,646,085 JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr10:54,022,523...54,047,793 JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6
ClinVar Annotator: match by term: Retinal cone dystrophy 2
ClinVar Annotator: match by OMIM:601777
OMIM
ClinVar
PMID:8554074 PMID:8944027 PMID:9536098 PMID:9618177 PMID:9683616 PMID:10636733 PMID:10676808 PMID:10766140 PMID:10951519 PMID:11035546 PMID:11115851 PMID:11328726 PMID:11565546 PMID:12325031 PMID:12552567 PMID:15024725 PMID:15111605 PMID:15175914 PMID:16123401 PMID:16199547 PMID:16505055 PMID:17525851 PMID:17576681 PMID:17724218 PMID:17964524 PMID:18055816 PMID:18055820 PMID:19959640 PMID:20050595 PMID:20079931 PMID:20517349 PMID:20683928 PMID:21602930 PMID:22025579 PMID:22695961 PMID:23035049 PMID:23661368 PMID:23847139 PMID:24033266 PMID:24265693 PMID:24875811 PMID:24997176 PMID:25477517 PMID:25741868 PMID:26047050 PMID:26253563 PMID:26298565 PMID:26352687 PMID:26355662 PMID:26626312 PMID:27375279 PMID:27881908 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28838317 PMID:29061346 PMID:29068479 PMID:29178642 PMID:29559409 PMID:30718709 PMID:33546218 NCBI chr10:53,954,918...53,975,576 JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:25741868 NCBI chr 1:224,999,552...225,014,062 JBrowse link
cone-rod dystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 7 OMIM
ClinVar
PMID:9634506 PMID:12659814 PMID:18690027 PMID:23591405 PMID:25741868 PMID:27176872 PMID:28166811 PMID:28492532 NCBI chr 9:24,696,959...25,196,368 JBrowse link
cone-rod dystrophy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 9
ClinVar Annotator: match by OMIM:612775
OMIM
ClinVar
PMID:11581183 PMID:19409519 PMID:25091951 PMID:25741868 PMID:28492532 NCBI chr16:67,022,538...67,101,647 JBrowse link
G Tm2d2 TM2 domain containing 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 9 ClinVar NCBI chr16:67,016,683...67,022,206 JBrowse link
Cone-Rod Dystrophy and Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: CONE-ROD DYSTROPHY AND HEARING LOSS
ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 1
ClinVar
OMIM
PMID:25741868 PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 PMID:31999394 NCBI chr 1:213,246,183...213,275,275 JBrowse link
Cone-Rod Dystrophy and Hearing Loss 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 2 OMIM
ClinVar
PMID:24780881 PMID:25741868 PMID:28492532 PMID:29718797 PMID:30459346 PMID:30998843 NCBI chr 3:144,470,946...144,516,125 JBrowse link
CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rims2 regulating synaptic membrane exocytosis 2 ISO ClinVar Annotator: match by term: CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE ClinVar
OMIM
PMID:32470375 NCBI chr 7:70,248,104...70,759,134 JBrowse link
Congenital Fibrosis of Extraocular Muscles, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phox2a paired-like homeobox 2a ISO ClinVar Annotator: match by OMIM:602078 OMIM
ClinVar
PMID:11600883 NCBI chr 1:156,178,754...156,183,118 JBrowse link
Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: FEOM3 LOCUS
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement
ClinVar Annotator: match by OMIM:600638
OMIM
ClinVar
PMID:2133536 PMID:7724178 PMID:10393037 PMID:12073023 PMID:15223798 PMID:18414213 PMID:20074521 PMID:20829227 PMID:24612975 PMID:25741868 PMID:26775887 PMID:27046833 NCBI chr19:51,457,187...51,466,243 JBrowse link
Congenital Fibrosis of Extraocular Muscles, 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif21a kinesin family member 21A ISO ClinVar Annotator: match by OMIM:135700
ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar
CTD
PMID:10922204 PMID:14595441 PMID:15223798 PMID:15621876 PMID:15621877 PMID:15827546 PMID:18332320 PMID:19551685 PMID:25741868 NCBI chr 7:122,062,523...122,179,051 JBrowse link
Congenital Fibrosis of Extraocular Muscles, 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col25a1 collagen type XXV alpha 1 chain ISO ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 5 ClinVar
OMIM
PMID:25500261 NCBI chr 2:218,755,152...219,154,348 JBrowse link
congenital hereditary endothelial dystrophy of cornea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Congenital hereditary endothelial dystrophy of the cornea OMIM
ClinVar
PMID:9536098 PMID:16767101 PMID:16825429 PMID:17220209 PMID:17576681 PMID:17679935 PMID:18024964 PMID:18474783 PMID:23615275 PMID:23922488 PMID:24033266 PMID:25741868 PMID:26619383 PMID:28492532 PMID:29327391 NCBI chr 3:117,900,223...117,912,787 JBrowse link
G Vsx1 visual system homeobox 1 ISO ClinVar Annotator: match by term: CORNEAL DYSTROPHY, CONGENITAL HEREDITARY ENDOTHELIAL ClinVar PMID:7795607 PMID:11978762 PMID:15623752 PMID:16303937 PMID:19763142 PMID:21976959 PMID:24033266 NCBI chr 3:139,514,270...139,521,869 JBrowse link
Congenital Muscular Dystrophy with Central Nervous System Involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fktn fukutin ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:10545611 PMID:14627679 PMID:17044012 PMID:17559086 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19396839 PMID:20961758 PMID:21102627 PMID:21228398 PMID:22037554 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26923585 PMID:27065010 PMID:28166811 PMID:28492532 PMID:30060766 NCBI chr 5:68,339,803...68,396,412 JBrowse link
congenital muscular dystrophy-dystroglycanopathy A14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14
ClinVar Annotator: match by term: Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A 14
ClinVar Annotator: match by OMIM:615350
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19901254 PMID:23768512 PMID:23894383 PMID:24033266 PMID:24780531 PMID:25326637 PMID:25681410 PMID:25741868 PMID:25770200 PMID:26133662 PMID:26310427 PMID:27147698 PMID:27527004 PMID:27766311 PMID:27874200 PMID:28433477 PMID:28456886 PMID:28478914 PMID:28492532 PMID:28554332 PMID:28877744 PMID:28914264 PMID:29437916 PMID:30060766 PMID:30069288 PMID:30257713 PMID:30684953 PMID:31211170 NCBI chr 8:108,737,429...108,767,286 JBrowse link
congenital muscular dystrophy-dystroglycanopathy A7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankmy2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:52,888,963...52,930,341 JBrowse link
G Bzw2 basic leucine zipper and W2 domains 2 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:52,828,069...52,888,599 JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7
ClinVar Annotator: match by term: ISPD-Related Disorder
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED
ClinVar Annotator: match by OMIM:614643
OMIM
ClinVar
PMID:2328832 PMID:2522420 PMID:7604843 PMID:9492098 PMID:9536098 PMID:10738921 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22522420 PMID:22522421 PMID:23217329 PMID:23288328 PMID:23390185 PMID:24033266 PMID:24120487 PMID:25326635 PMID:25640679 PMID:25741868 PMID:26404900 PMID:26467025 PMID:27363342 PMID:28492532 PMID:28688748 PMID:28973083 PMID:29260090 PMID:29382405 NCBI chr 6:53,120,264...53,397,030 JBrowse link
G Lrrc72 leucine rich repeat containing 72 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:52,935,387...52,995,552 JBrowse link
G Sostdc1 sclerostin domain containing 1 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:53,051,336...53,055,510 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532 NCBI chr 5:129,634,274...129,644,150 JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532 NCBI chr 5:129,646,139...129,659,383 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 ClinVar PMID:23877401 PMID:25558065 NCBI chr 1:202,343,268...202,345,490 JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 ClinVar PMID:25741868 NCBI chr 8:108,890,926...108,955,611 JBrowse link
G Fkrp fukutin related protein ISO
ISS
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
ClinVar Annotator: match by term: HARD syndrome
OMIM:236670
ClinVar
MouseDO
PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:12707425 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17336067 PMID:17554798 PMID:18036232 PMID:18060779 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18671187 PMID:19155270 PMID:19244252 PMID:19820980 PMID:19835634 PMID:19900540 PMID:19955119 PMID:21220724 PMID:21228398 PMID:21296577 PMID:22264518 PMID:22981120 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23757202 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25987458 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:27439679 PMID:27848944 PMID:28454995 PMID:28492532 PMID:28931339 PMID:29065428 PMID:30003095 PMID:30564623 PMID:31041397 PMID:31671740 NCBI chr 1:77,479,641...77,486,954 JBrowse link
G Fktn fukutin ISO
ISS
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar Annotator: match by term: HARD syndrome
OMIM:236670
ClinVar
MouseDO
PMID:10545611 PMID:14627679 PMID:17044012 PMID:17559086 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:20961758 PMID:21102627 PMID:21228398 PMID:22037554 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26636822 PMID:26923585 PMID:27065010 PMID:28166811 PMID:28492532 PMID:28785732 PMID:30060766 NCBI chr 5:68,339,803...68,396,412 JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISS OMIM:236670 MouseDO NCBI chr19:11,603,129...12,048,930 JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar Annotator: match by term: HARD syndrome
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
ClinVar
OMIM
PMID:9536098 PMID:11320179 PMID:12369018 PMID:14678799 PMID:15037715 PMID:15637732 PMID:15792865 PMID:16199547 PMID:16575835 PMID:17559086 PMID:17576681 PMID:17878207 PMID:18414213 PMID:18513969 PMID:18640039 PMID:18647264 PMID:18752264 PMID:19222032 PMID:19299310 PMID:22323514 PMID:23757202 PMID:24304607 PMID:24491487 PMID:25326635 PMID:25741868 PMID:26467025 PMID:28097321 PMID:28116189 PMID:28492532 PMID:28556411 PMID:30426380 PMID:31319225 PMID:32860008 NCBI chr 3:15,520,717...15,538,579 JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO
ISS
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
OMIM:236670
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar
MouseDO
PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 NCBI chr 6:106,755,462...106,794,849 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rxylt1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23217329 PMID:23519211 PMID:24033266 PMID:25640679 PMID:25741868 PMID:27733679 PMID:28492532 NCBI chr 7:57,770,841...57,782,695 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
ClinVar Annotator: match by OMIM:615181
OMIM
ClinVar
PMID:16199547 PMID:23453667 PMID:25326635 PMID:25640679 PMID:25741868 PMID:28492532 PMID:29273094 PMID:29302074 NCBI chr17:51,334,921...51,377,469 JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar PMID:23453667 PMID:28492532 NCBI chr17:51,290,143...51,336,090 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fnta farnesyltransferase, CAAX box, alpha ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:66,065,131...66,083,460 JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:65,954,293...66,058,812 JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
ClinVar Annotator: match by OMIM:615249
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23519211 PMID:24556084 PMID:24925318 PMID:25741868 PMID:27879205 PMID:28492532 NCBI chr16:66,085,569...66,101,360 JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:65,928,886...65,954,092 JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:65,905,348...65,909,942 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GNT1-RELATED
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13
ClinVar
OMIM
PMID:23877401 PMID:25558065 PMID:25741868 PMID:28492532 NCBI chr 1:202,343,268...202,345,490 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by OMIM:613150
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED
ClinVar
OMIM
PMID:9536098 PMID:15894594 PMID:16199547 PMID:16701995 PMID:17559086 PMID:17576681 PMID:17634419 PMID:17869517 PMID:17878207 PMID:17878297 PMID:17923109 PMID:18414213 PMID:18513969 PMID:18752264 PMID:19138766 PMID:19299310 PMID:22323514 PMID:22958903 PMID:24002165 PMID:24033266 PMID:25267602 PMID:25741868 PMID:26467025 PMID:26495167 PMID:27854218 PMID:28492532 PMID:28973083 PMID:28980384 PMID:29175898 PMID:29382405 PMID:30060766 NCBI chr 6:106,755,462...106,794,849 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
ClinVar
OMIM
PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17878207 PMID:17906881 PMID:18195152 PMID:18691338 PMID:19067344 PMID:19299310 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:22323514 PMID:22522420 PMID:22995991 PMID:24123366 PMID:25333069 PMID:25390965 PMID:25741868 PMID:26467025 PMID:26908613 PMID:27391550 PMID:27493216 PMID:27884173 PMID:28492532 NCBI chr 5:129,634,274...129,644,150 JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
ClinVar PMID:11709191 PMID:12788071 PMID:12849864 PMID:15236414 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17878207 PMID:17906881 PMID:18195152 PMID:18691338 PMID:19067344 PMID:19299310 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:22323514 PMID:22522420 PMID:22995991 PMID:24123366 PMID:25333069 PMID:25390965 PMID:25741868 PMID:26467025 PMID:26908613 PMID:27391550 PMID:27493216 PMID:27884173 PMID:28492532 NCBI chr 5:129,646,139...129,659,383 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
ClinVar Annotator: match by OMIM:613153
OMIM
ClinVar
PMID:11592034 PMID:11741828 PMID:12471058 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17554798 PMID:17952692 PMID:18060779 PMID:18414213 PMID:18593008 PMID:18639457 PMID:19155270 PMID:19244252 PMID:19820980 PMID:19835634 PMID:19900540 PMID:20236121 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:23757202 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:27439679 PMID:28492532 NCBI chr 1:77,479,641...77,486,954 JBrowse link
G Strn4 striatin 4 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 ClinVar PMID:25741868 NCBI chr 1:77,482,267...77,511,862 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by OMIM:613154
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, LARGE-RELATED
ClinVar
OMIM
PMID:17436019 PMID:17878207 PMID:18414213 PMID:19067344 PMID:19299310 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:11,603,129...12,048,930 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar Annotator: match by OMIM:614830
OMIM
ClinVar
PMID:18414213 PMID:22958903 PMID:25558065 PMID:25741868 PMID:26467025 PMID:27066570 PMID:28492532 NCBI chr 8:121,645,106...121,660,761 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 ClinVar
OMIM
PMID:24052401 PMID:25741868 PMID:25934851 PMID:26467025 PMID:28492532 PMID:29134705 NCBI chr 8:108,890,926...108,955,611 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 2:210,164,813...210,302,069 JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive ClinVar PMID:28492532 NCBI chr 1:201,428,671...201,442,950 JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO
IAGP
ClinVar Annotator: match by term: Congenital stationary night blindness
DNA:mutation:cds: c.2941C>T (rat)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9662399 PMID:9662400 PMID:11281458 PMID:17525176 PMID:22194652 PMID:24124559 PMID:25307992 PMID:25741868 PMID:26992781 PMID:28041643 PMID:28492532 PMID:30825406, PMID:12111638, PMID:18246026 RGD:734671, RGD:13782370 NCBI chr  X:14,868,096...14,896,413 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 8:65,322,920...65,436,331 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 8:108,350,935...108,355,671 JBrowse link
G Gnb3 G protein subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:157,639,468...157,645,171 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 PMID:28492532 NCBI chr10:82,324,568...82,340,448 JBrowse link
G Grk1 G protein-coupled receptor kinase 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:30718709 NCBI chr16:76,122,501...76,135,792 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 chr10:35,167,985...35,182,717 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 2:218,337,215...218,360,318 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:9,280,864...9,301,900 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 chr14:1,323,310...1,366,450 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 4:148,975,597...148,988,693 JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:28041643 NCBI chr  X:12,566,447...12,628,171 JBrowse link
G Sag S-antigen visual arrestin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7670478 NCBI chr 9:88,467,797...88,508,821 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 8:65,440,842...65,466,001 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:9536098 PMID:17576681 PMID:19878917 PMID:19896113 PMID:19966281 PMID:20300565 PMID:25741868 PMID:27803854 PMID:28041643 PMID:28492532, PMID:19878917, PMID:19896113, PMID:19896109 RGD:7175555, RGD:7183085, RGD:7183084 NCBI chr 1:117,718,896...117,835,434 JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO DNA:mutations:multiple (human) RGD PMID:19878917 RGD:7175555 NCBI chr10:57,883,546...57,915,865 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:12525556 PMID:14970843 PMID:15025721 PMID:15325563 PMID:15326663 PMID:17405132 PMID:18641288 PMID:19881469 PMID:20145675 PMID:20301515 PMID:20507924 PMID:22581970 PMID:24033266 PMID:24088041 PMID:24160897 PMID:24607488 PMID:24944099 PMID:25097241 PMID:25404053 PMID:25649381 PMID:25741868 PMID:26633545 PMID:26872967 PMID:28041643 PMID:28492532 PMID:29953849 PMID:30718709 NCBI chr13:99,837,445...100,503,935 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:9,280,864...9,301,900 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, type 1B
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:16622103 PMID:17405131 PMID:19666700 PMID:19862333 PMID:22008250 PMID:22735794 PMID:25741868 PMID:26667666 PMID:28041643 PMID:28492532 PMID:30718709 NCBI chr10:35,167,985...35,182,717 JBrowse link
congenital stationary night blindness 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir211 microRNA 211 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 1C ClinVar PMID:25741868 NCBI chr 1:117,777,539...117,777,644 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:16199547 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:27803854 PMID:28492532 PMID:30718709 NCBI chr 1:117,718,896...117,835,434 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 8:65,322,920...65,436,331 JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 1D
ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:613830
OMIM
ClinVar
PMID:12037007 PMID:20850105 PMID:25741868 PMID:26822852 PMID:28492532 NCBI chr 8:65,440,842...65,466,001 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, 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 chr10:82,324,568...82,340,448 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:28492532 NCBI chr 2:218,337,215...218,360,318 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 8:108,350,935...108,355,671 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 4:157,634,775...157,638,799 JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by OMIM:617024 ClinVar
OMIM
PMID:27063057 NCBI chr 4:157,639,468...157,645,171 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 chr10:53,954,918...53,975,576 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:10900517 PMID:11281458 PMID:12111638 PMID:12187427 PMID:12719097 PMID:15897456 PMID:17525176 PMID:22194652 PMID:23714322 PMID:24033266 PMID:24124559 PMID:25307992 PMID:25741868 PMID:26992781 PMID:28041643 PMID:28492532 PMID:30576320 PMID:30718709 NCBI chr  X:14,868,096...14,896,413 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:25307992 PMID:25741868 PMID:26234941 PMID:28041643 PMID:28341476 PMID:28492532 PMID:29525873 PMID:30718709 NCBI chr 1:201,428,671...201,442,950 JBrowse link
G Gpr152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 2B ClinVar NCBI chr 1:201,435,854...201,438,373 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:19933196 PMID:20591486 PMID:20805032 PMID:21094163 PMID:21217109 PMID:21219898 PMID:22110080 PMID:22164218 PMID:22323724 PMID:22995991 PMID:24760071 PMID:24853414 PMID:25097241 PMID:25741868 PMID:25999674 PMID:26202387 PMID:28492532 PMID:28559085 PMID:29847639 PMID:30240733 PMID:30718709 PMID:30977563 NCBI chr 4:148,975,597...148,988,693 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 OMIM:163500
OMIM
ClinVar
PMID:7724547 PMID:8075643 PMID:9536098 PMID:17044014 PMID:17576681 PMID:22334370 PMID:24033266 PMID:24938718 PMID:25472526 PMID:25741868 PMID:25999674 PMID:26667666 PMID:27588261 PMID:28041643 PMID:28492532 PMID:28559085 PMID:28912962 PMID:28981474 PMID:30029497 PMID:30718709 NCBI chr14:1,323,310...1,366,450 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 8:108,350,935...108,355,671 JBrowse link
congenital stromal corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcn decorin ISO ClinVar Annotator: match by term: Congenital Stromal Corneal Dystrophy
ClinVar Annotator: match by OMIM:610048
OMIM
ClinVar
PMID:5304426 PMID:11805522 PMID:15671264 PMID:16935612 PMID:21993463 PMID:24413633 PMID:28492532 NCBI chr 7:32,281,252...32,321,291 JBrowse link
Cornea Plana 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kera keratocan ISO ClinVar Annotator: match by term: Cornea plana 2
ClinVar Annotator: match by OMIM:217300
OMIM
ClinVar
PMID:10802664 PMID:11726611 PMID:11754099 PMID:15370545 PMID:16157807 PMID:16234475 PMID:17011957 PMID:23834557 PMID:25741868 PMID:25967529 PMID:28492532 NCBI chr 7:32,397,382...32,404,837 JBrowse link
corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO ClinVar Annotator: match by term: Corneal Dystrophy, Recessive
ClinVar Annotator: match by term: Corneal dystrophy
ClinVar PMID:15042513 PMID:15937078 PMID:23221965 PMID:24480711 PMID:25741868 PMID:28492532 NCBI chr16:46,917,929...46,958,735 JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO RGD PMID:11726641 RGD:1598895 NCBI chr 8:84,702,916...84,729,466 JBrowse link
G Grhl2 grainyhead-like transcription factor 2 ISO ClinVar Annotator: match by term: Corneal dystrophy ClinVar PMID:29499165 NCBI chr 7:68,400,287...68,530,269 JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Corneal dystrophy ClinVar NCBI chr 3:117,885,464...117,897,247 JBrowse link
G Kera keratocan ISO autosomal recessive cornea plana, OMIM:217300 RGD PMID:10802664 RGD:1600335 NCBI chr 7:32,397,382...32,404,837 JBrowse link
G Krt12 keratin 12 susceptibility ISO protein:mutations: ; V143L, R135T; Meesmann's corneal dystrophy, OMIM:122100 RGD PMID:9171831 RGD:1600169 NCBI chr10:84,370,803...84,378,075 JBrowse link
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Corneal Dystrophy, Recessive
ClinVar Annotator: match by term: Corneal dystrophy
ClinVar PMID:18024964 PMID:18363173 PMID:20144242 PMID:20848555 PMID:23585771 PMID:23922488 PMID:24348007 PMID:25182519 PMID:25741868 PMID:26467025 PMID:28263186 PMID:28492532 NCBI chr 3:117,900,223...117,912,787 JBrowse link
G Tacstd2 tumor-associated calcium signal transducer 2 ISO gelatinous drop-like corneal dystrophy
ClinVar Annotator: match by term: Corneal Dystrophy, Dominant/Recessive
ClinVar PMID:10192395 RGD:1599194 NCBI chr 4:96,707,950...96,709,650 JBrowse link
G Tgfbi transforming growth factor, beta induced ISO
ISS
granular dystrophy Groenouw type I, OMIM:121900, Thiel-Behnke corneal dystrophy, OMIM:602082, lattice corneal dystrophy type I , OMIM:122200, and Avellino corneal dystrophy OMIM:607541
ClinVar Annotator: match by term: Corneal dystrophy
ClinVar Annotator: match by term: Corneal Dystrophy, Dominant
ClinVar
MouseDO
PMID:9497262 PMID:11004271 PMID:11024425 PMID:11923233 PMID:12400061 PMID:15177960 PMID:16652336 PMID:16670477 PMID:16809844 PMID:19303004 PMID:19337156 PMID:21462384 PMID:21617751 PMID:21744490 PMID:23884333 PMID:24406863 PMID:24940934 PMID:25284770 PMID:25525159 PMID:25741868 PMID:25932442 PMID:26748743 PMID:26961680 PMID:28492532, PMID:9054935 RGD:1599387 NCBI chr17:7,955,603...7,984,903 JBrowse link
G Vsx1 visual system homeobox 1 ISO KTCN1, OMIM:148300, PPCD1, OMIM:122000
CTD Direct Evidence: marker/mechanism
associated with Craniofacial Abnormalities;DNA:missense mutations:cds:p.A256S, p.R131S (human)
CTD PMID:11978762, PMID:11978762, PMID:15051220 RGD:1599773, RGD:8657029 NCBI chr 3:139,514,270...139,521,869 JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISO ClinVar Annotator: match by term: Corneal dystrophy ClinVar PMID:25741868 NCBI chr17:51,948,948...52,116,018 JBrowse link
Corneal Dystrophy, Fuchs Endothelial, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 3 OMIM
ClinVar
PMID:18728071 PMID:25741868 NCBI chr18:62,941,739...63,288,126 JBrowse link
Corneal Dystrophy, Fuchs Endothelial, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 4
ClinVar Annotator: match by OMIM:613268
OMIM
ClinVar
PMID:16767101 PMID:25741868 NCBI chr 3:117,900,223...117,912,787 JBrowse link
Corneal Dystrophy, Fuchs Endothelial, 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zeb1 zinc finger E-box binding homeobox 1 ISO ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 6
ClinVar Annotator: match by term: Corneal dystrophy, fuchs endothelial, 6
ClinVar Annotator: match by OMIM:613270
OMIM
ClinVar
PMID:20036349 PMID:25741868 PMID:26622166 PMID:28492532 NCBI chr17:51,948,948...52,116,018 JBrowse link
Corneal Dystrophy, Fuchs Endothelial, 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agbl1 AGBL carboxypeptidase 1 ISO ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 8
ClinVar Annotator: match by OMIM:615523
OMIM
ClinVar
PMID:24094747 PMID:25741868 NCBI chr 1:130,043,914...130,950,739 JBrowse link
Corneal Dystrophy, Fuchs' Endothelial, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col8a2 collagen type VIII alpha 2 chain ISO ClinVar Annotator: match by OMIM:136800 OMIM
ClinVar
PMID:399801 PMID:11689488 PMID:15914606 PMID:18024822 PMID:22002996 PMID:23422828 NCBI chr 5:138,586,201...138,613,627 JBrowse link
corneal dystrophy-perceptive deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Corneal dystrophy-perceptive deafness syndrome
ClinVar Annotator: match by term: Corneal dystrophy and perceptive deafness
ClinVar Annotator: match by OMIM:217400
OMIM
ClinVar
PMID:16767101 PMID:16825429 PMID:17220209 PMID:17679935 PMID:18024964 PMID:18363173 PMID:20144242 PMID:24348007 PMID:24916015 PMID:25182519 PMID:25741868 PMID:26467025 PMID:27057589 PMID:28492532 PMID:29327391 NCBI chr 3:117,900,223...117,912,787 JBrowse link
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness ClinVar PMID:9536098 PMID:15141358 PMID:16648375 PMID:17576681 PMID:17990063 PMID:18414213 PMID:19006247 PMID:20683995 PMID:20921020 PMID:23352163 PMID:23757202 PMID:24033266 PMID:25502226 PMID:25741868 PMID:26133662 PMID:26395554 PMID:26443248 PMID:26467025 PMID:27175599 PMID:27353947 PMID:27829003 PMID:28041643 PMID:28492532 NCBI chr 7:66,557,862...67,128,429 JBrowse link
dominant optic atrophy plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
ClinVar Annotator: match by term: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
ClinVar Annotator: match by term: Autosomal dominant optic atrophy plus syndrome
ClinVar Annotator: match by OMIM:125250
OMIM
ClinVar
PMID:4058877 PMID:6493699 PMID:11017080 PMID:12488262 PMID:12566046 PMID:14644237 PMID:15531309 PMID:16158427 PMID:16240368 PMID:17188070 PMID:17722006 PMID:17724190 PMID:18158317 PMID:18195150 PMID:19029523 PMID:19303950 PMID:20157015 PMID:21112924 PMID:21636302 PMID:21646330 PMID:21745197 PMID:22779427 PMID:22857269 PMID:24970096 PMID:25012220 PMID:25564500 PMID:25741868 PMID:26467025 PMID:27890673 PMID:28492532 PMID:28494813 PMID:28812649 PMID:28926202 PMID:29389947 PMID:31673222 NCBI chr11:71,108,100...71,185,170 JBrowse link
Duane retraction syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Duane's syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 3:58,509,822...58,676,774 JBrowse link
G Mafb MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:148,998,111...149,000,031 JBrowse link
G Sall4 spalt-like transcription factor 4 ISO DNA:snps, deletions, insertion:multiple (human)
CTD Direct Evidence: marker/mechanism
DNA:duplication:cds:c.410dupG (human)
DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human)
DNA:nonsense mutation:cds:p.R905X (human)
DNA:frameshift mutation:cds:p.M640IfsX25 (human)
CTD PMID:16402211 PMID:30067223, PMID:12393809, PMID:26791099, PMID:12395297, PMID:16411190, PMID:17216607, PMID:23687435 RGD:11556210, RGD:11532205, RGD:11556232, RGD:11556231, RGD:11556215, RGD:11556211 NCBI chr 3:157,474,067...157,491,055 JBrowse link
Duane Retraction Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mafb MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Duane syndrome type 1 ClinVar PMID:27181683 NCBI chr 3:148,998,111...149,000,031 JBrowse link
Duane Retraction Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chn1 chimerin 1 ISO ClinVar Annotator: match by term: Duane syndrome type 2
ClinVar Annotator: match by term: Duane retraction syndrome 2
ClinVar
OMIM
PMID:10577917 PMID:10942112 PMID:17197532 PMID:18653847 PMID:20535495 PMID:21555619 PMID:25741868 PMID:28492532 NCBI chr 3:58,509,822...58,676,774 JBrowse link
Duane Retraction Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mafb MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Duane syndrome type 3 ClinVar
OMIM
PMID:27181683 NCBI chr 3:148,998,111...149,000,031 JBrowse link
EDICT Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir184 microRNA 184 ISO ClinVar Annotator: match by This custom term has been created by RGD curators. OMIM
ClinVar
PMID:11874753 PMID:14638698 PMID:21996275 PMID:22131394 NCBI chr 8:90,343,134...90,343,210 JBrowse link
enhanced S-cone syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Goldmann-Favre syndrome
ClinVar Annotator: match by term: Enhanced S-cone syndrome
ClinVar Annotator: match by term: NR2E3-Related Disorders
ClinVar Annotator: match by term: Enhanced s-cone syndrome
ClinVar Annotator: match by OMIM:268100
OMIM
ClinVar
PMID:10655056 PMID:11071390 PMID:11773633 PMID:12963616 PMID:15453866 PMID:15459973 PMID:15689355 PMID:16024868 PMID:16199547 PMID:17438525 PMID:17564971 PMID:17601449 PMID:18294254 PMID:18436841 PMID:18835469 PMID:19006237 PMID:19139342 PMID:19273793 PMID:19718767 PMID:19823680 PMID:19898638 PMID:19933183 PMID:21217109 PMID:21364904 PMID:22711506 PMID:23039133 PMID:23591405 PMID:23989059 PMID:24033266 PMID:24069298 PMID:24265693 PMID:24339724 PMID:24474277 PMID:25079116 PMID:25097241 PMID:25703721 PMID:25741868 PMID:25999674 PMID:26229699 PMID:26355662 PMID:26667666 PMID:26894784 PMID:27013732 PMID:27032803 PMID:27522502 PMID:27573156 PMID:27874104 PMID:28041643 PMID:28224992 PMID:28300834 PMID:28418496 PMID:28492532 PMID:28541266 PMID:28559085 PMID:28771251 PMID:28944237 PMID:29193891 PMID:29343940 PMID:29431110 PMID:30054919 PMID:30324420 PMID:30718709 NCBI chr 8:60,365,581...60,373,383 JBrowse link
G Nrl neural retina leucine zipper ISO
ISS
ClinVar Annotator: match by term: Enhanced s-cone syndrome
OMIM:268100
ClinVar
MouseDO
PMID:27732723 NCBI chr15:29,008,104...29,009,832 JBrowse link
G Prph2 peripherin 2 ISO RGD PMID:23650562 RGD:8554862 NCBI chr 9:14,066,149...14,081,454 JBrowse link
epithelial basement membrane dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by term: Map-dot-fingerprint dystrophy of cornea
ClinVar Annotator: match by OMIM:121820
OMIM
ClinVar
PMID:16652336 PMID:19337156 PMID:25525159 NCBI chr17:7,955,603...7,984,903 JBrowse link
epithelial recurrent erosion dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Epithelial recurrent erosion dystrophy ClinVar
OMIM
PMID:2663347 PMID:14562173 PMID:19710953 PMID:25676728 PMID:25741868 PMID:26786512 PMID:27309958 NCBI chr 1:246,530,589...246,577,632 JBrowse link
exudative vitreoretinopathy 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 CTD Direct Evidence: marker/mechanism CTD PMID:29207047 NCBI chr 2:210,164,813...210,302,069 JBrowse link
G Fzd4 frizzled class receptor 4 ISS
ISO
OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310
ClinVar Annotator: match by term: Familial exudative vitreoretinopathy
MouseDO
ClinVar
PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 PMID:30452590 PMID:31294129 NCBI chr 1:143,280,065...143,288,799 JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Familial exudative vitreoretinopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8832721 PMID:11719191 PMID:11956231 PMID:15024691 PMID:15824851 PMID:16199547 PMID:16252235 PMID:18602879 PMID:25711638 PMID:28041643 PMID:28492532 PMID:29181528 PMID:29207047 NCBI chr 1:200,814,247...200,917,581 JBrowse link
G Ndp norrin cystine knot growth factor NDP ISS OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310 MouseDO NCBI chr  X:5,796,487...5,820,934 JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Familial exudative vitreoretinopathy ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 PMID:30452590 PMID:31294129 NCBI chr 1:143,402,725...143,422,182 JBrowse link
G Tspan12 tetraspanin 12 ISS
ISO
OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310
ClinVar Annotator: match by term: Familial exudative vitreoretinopathy
MouseDO
ClinVar
PMID:25250762 PMID:28041643 PMID:28492532 NCBI chr 4:50,313,768...50,389,246 JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Familial exudative vitreoretinopathy ClinVar NCBI chr 3:77,615,595...77,621,325 JBrowse link
exudative vitreoretinopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc81 coiled-coil domain containing 81 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:143,739,472...143,791,026 JBrowse link
G Ccdc83 coiled-coil domain containing 83 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:144,167,993...144,225,622 JBrowse link
G Ccdc89 coiled-coil domain containing 89 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:144,386,252...144,387,514 JBrowse link
G Crebzf CREB/ATF bZIP transcription factor ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:144,416,864...144,423,540 JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:28575650 NCBI chr 8:120,640,008...120,667,110 JBrowse link
G Dlg2 discs large MAGUK scaffold protein 2 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:144,451,653...146,503,949 JBrowse link
G Eed embryonic ectoderm development ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:143,867,875...143,895,008 JBrowse link
G Fzd4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1
ClinVar Annotator: match by OMIM:133780
ClinVar
OMIM
PMID:12172548 PMID:14507768 PMID:15035989 PMID:15370539 PMID:15488808 PMID:15733276 PMID:15981244 PMID:17955262 PMID:20340138 PMID:20938005 PMID:21097938 PMID:21179236 PMID:21681106 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28166811 PMID:28492532 PMID:30452590 PMID:31294129, PMID:12172548 RGD:1598999 NCBI chr 1:143,280,065...143,288,799 JBrowse link
G Hikeshi heat shock protein nuclear import factor ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:143,825,922...143,849,374 JBrowse link
G Lrp5 LDL receptor related protein 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1
CTD
ClinVar
PMID:25741868 NCBI chr 1:200,814,247...200,917,581 JBrowse link
G Me3 malic enzyme 3 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:143,534,024...143,735,551 JBrowse link
G Picalm phosphatidylinositol binding clathrin assembly protein ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:144,056,415...144,138,045 JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Criswick-Schepens syndrome
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1
ClinVar PMID:12172548 PMID:14507768 PMID:15035989 PMID:15488808 PMID:15733276 PMID:15981244 PMID:17955262 PMID:20340138 PMID:20938005 PMID:21097938 PMID:21681106 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28166811 PMID:28492532 PMID:30452590 PMID:31294129 NCBI chr 1:143,402,725...143,422,182 JBrowse link
G Sytl2 synaptotagmin-like 2 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:144,272,870...144,379,310 JBrowse link
G Tmem126a transmembrane protein 126A ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:144,422,698...144,430,730 JBrowse link
G Tmem126b transmembrane protein 126B ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:144,437,142...144,451,508 JBrowse link
G Tmem135 transmembrane protein 135 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 1:143,006,343...143,279,824 JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:23716654 PMID:27316669 PMID:28492532 NCBI chr 3:77,615,595...77,621,325 JBrowse link
exudative vitreoretinopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 4
ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, digenic
ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, autosomal dominant
ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, autosomal recessive
OMIM
ClinVar
PMID:8832721 PMID:9056564 PMID:9831343 PMID:11719191 PMID:11956231 PMID:14507768 PMID:15024691 PMID:15346351 PMID:15824851 PMID:15981244 PMID:16199547 PMID:16252235 PMID:18602879 PMID:25711638 PMID:25741868 PMID:26244290 PMID:28041643 PMID:28492532 PMID:29181528 NCBI chr 1:200,814,247...200,917,581 JBrowse link
exudative vitreoretinopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 5
ClinVar Annotator: match by OMIM:613310
OMIM
ClinVar
PMID:15665352 PMID:20159111 PMID:20159112 PMID:21334594 PMID:22427576 PMID:25250762 PMID:25352738 PMID:25741868 PMID:28002565 PMID:28492532 NCBI chr 4:50,313,768...50,389,246 JBrowse link
exudative vitreoretinopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 6 ClinVar
OMIM
PMID:6897033 PMID:23716654 PMID:25741868 PMID:29982478 NCBI chr 3:77,615,595...77,621,325 JBrowse link
exudative vitreoretinopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: EXUDATIVE VITREORETINOPATHY 7
ClinVar Annotator: match by term: Exudative vitreoretinopathy 7
ClinVar
OMIM
PMID:25741868 PMID:26350204 PMID:27915094 PMID:28575650 NCBI chr 8:120,640,008...120,667,110 JBrowse link
familial benign fleck retina term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g5 phospholipase A2, group V ISO ClinVar Annotator: match by term: Fleck retina, familial benign
ClinVar Annotator: match by OMIM:228980
OMIM
ClinVar
PMID:17502520 PMID:22137173 PMID:28492532 NCBI chr 5:151,041,339...151,109,433 JBrowse link
Finnish type amyloidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsn gelsolin ISO ClinVar Annotator: match by term: Meretoja syndrome
ClinVar Annotator: match by OMIM:105120
OMIM
ClinVar
PMID:1311149 PMID:1315718 PMID:1322359 PMID:1322360 PMID:1652889 PMID:1658654 PMID:1848334 PMID:2153578 PMID:2175344 PMID:2176164 PMID:2176481 PMID:2176550 PMID:4543600 PMID:6610849 PMID:6975851 PMID:7550233 PMID:7868127 PMID:8388189 PMID:11754099 PMID:25601851 PMID:25741868 PMID:28492532 NCBI chr 3:18,585,166...18,638,404 JBrowse link
Fleck corneal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pikfyve phosphoinositide kinase, FYVE-type zinc finger containing ISO ClinVar Annotator: match by term: Fleck corneal dystrophy
ClinVar Annotator: match by OMIM:121850
OMIM
ClinVar
PMID:15902656 PMID:18558518 PMID:23288988 PMID:25741868 PMID:26396486 PMID:28492532 NCBI chr 9:66,563,747...66,657,873 JBrowse link
Foveal Hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atoh7 atonal bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:28492532 PMID:31696227 NCBI chr20:25,530,826...25,531,275 JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:25741868 NCBI chr15:29,008,104...29,009,832 JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:31696227 NCBI chr 1:78,881,392...78,899,549 JBrowse link
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:24045842 NCBI chr19:47,522,781...47,561,443 JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Foveal hypoplasia ClinVar PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:9158138 PMID:10766867 PMID:17952075 PMID:18326704 PMID:18488027 PMID:18488028 PMID:18925668 PMID:19208379 PMID:19533789 PMID:21541274 PMID:23504663 PMID:25216246 PMID:25741868 PMID:28492532 NCBI chr 1:141,115,036...141,210,207 JBrowse link
Foveal Hypoplasia and Anterior Segment Dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc38a8 solute carrier family 38, member 8 ISO ClinVar Annotator: match by term: Foveal hypoplasia 2
ClinVar Annotator: match by OMIM:609218
ClinVar Annotator: match by term: Foveal hypoplasia and anterior segment dysgenesis
OMIM
ClinVar
PMID:19590516 PMID:24045842 PMID:24290379 PMID:25741868 NCBI chr19:47,522,781...47,561,443 JBrowse link
Fuchs' endothelial dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agbl1 AGBL carboxypeptidase 1 ISS OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 MouseDO NCBI chr 1:130,043,914...130,950,739 JBrowse link
G C3 complement C3 ISO protein:decreased expression:aqueous humour RGD PMID:21139973 RGD:7401271 NCBI chr 9:2,087,437...2,114,366 JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:nucleus:
mRNA,protein:increased expression:cornea,nucleus:
RGD PMID:22956607, PMID:22956607 RGD:8661808, RGD:8661808 NCBI chr20:7,149,177...7,159,727 JBrowse link
G Clu clusterin ISO RGD PMID:18378577, PMID:22956607 RGD:8696020, RGD:8661808 NCBI chr15:40,161,068...40,200,315 JBrowse link
G Col8a2 collagen type VIII alpha 2 chain ISS OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 MouseDO NCBI chr 5:138,586,201...138,613,627 JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO DNA:missense mutations: :multiple RGD PMID:22341973 RGD:11072687 NCBI chr18:70,818,276...70,969,983 JBrowse link
G Slc4a11 solute carrier family 4 member 11 ISS OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 MouseDO NCBI chr 3:117,900,223...117,912,787 JBrowse link
G Tcf4 transcription factor 4 ISS OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 MouseDO NCBI chr18:62,941,739...63,288,126 JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISS OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 MouseDO NCBI chr17:51,948,948...52,116,018 JBrowse link
Fukuyama congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dag1 dystroglycan 1 ISO protein:decreased expression:brain, heart, skeletal muscle RGD PMID:11445638 RGD:11537476 NCBI chr 8:108,890,926...108,955,611 JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Fukuyama congenital muscular dystrophy ClinVar NCBI chr 1:77,479,641...77,486,954 JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Fukuyama congenital muscular dystrophy
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
OMIM
ClinVar
PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 PMID:12601708 PMID:14627679 PMID:15103718 PMID:16222679 PMID:17034757 PMID:17036286 PMID:17044012 PMID:17559086 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:19842201 PMID:20620061 PMID:20961758 PMID:21102627 PMID:21228398 PMID:22037554 PMID:22275357 PMID:22958903 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:27357428 PMID:28166811 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:28785732 PMID:30060766, PMID:11445638 RGD:11537476 NCBI chr 5:68,339,803...68,396,412 JBrowse link