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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:lens disease
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Accession:DOID:110 term browser browse the term
Definition:Diseases involving the CRYSTALLINE LENS.
Synonyms:exact_synonym: lens diseases
 primary_id: MESH:D007905;   RDO:0004885
 xref: ICD10CM:H27.9;   NCI:C26812
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
lens disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISS MouseDO NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848 		JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123441 NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074 		JBrowse link
G Siah2 siah E3 ubiquitin protein ligase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24282676 NCBI chr 2:142,913,924...142,931,752
Ensembl chr 2:142,914,003...142,931,950 		JBrowse link
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb caseinolytic mitochondrial matrix peptidase chaperone subunit B ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25595726 PMID:25597510 PMID:25597511 More... NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788 		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 More... NCBI chr 3:92,718,047...92,896,696
Ensembl chr 3:92,718,047...92,896,542 		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 More... NCBI chr 3:92,450,631...92,486,004
Ensembl chr 3:92,450,639...92,485,901 		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 More... 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 More... NCBI chr 3:92,385,329...92,450,557
Ensembl chr 3:92,385,379...92,452,313 		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 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		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 More... NCBI chr 3:91,841,052...91,855,295
Ensembl 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 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
Aphakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxe3 forkhead box E3 ISO DNA:nonsense mutation:cds:p.C240X (human) RGD PMID:16826526 RGD:1598956 NCBI chr 5:128,445,594...128,446,454
Ensembl chr 5:128,445,594...128,446,454 		JBrowse link
G Pitx3 paired-like homeodomain 3 ISO DNA:nonsense mutation:cl444C>A(mouse)
DNA:deletions:promoter, cds:		 RGD PMID:25347445 PMID:11247667 RGD:11535071, RGD:11535075 NCBI chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892 		JBrowse link
autosomal dominant isolated ectopia lentis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant OMIM
ClinVar		 PMID:2005308 PMID:3495735 PMID:3536967 PMID:4750422 PMID:7738200 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant ClinVar PMID:23218701 PMID:23401661 PMID:28492532 NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
autosomal recessive isolated ectopia lentis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Ectopia lentis 2, isolated, autosomal recessive
ClinVar Annotator: match by term: Ectopia lentis, isolated autosomal recessive		 OMIM
ClinVar		 PMID:2056446 PMID:2377351 PMID:19200529 PMID:20141359 PMID:20564469 More... NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848 		JBrowse link
Ayme-Gripp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Ayme-gripp syndrome
ClinVar Annotator: match by OMIM:601088		 OMIM
ClinVar		 PMID:8834052 PMID:8867660 PMID:12072800 PMID:17935251 PMID:25741868 More... NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365 		JBrowse link
Baralle-Macken Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb1 COPI coat complex subunit beta 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CATARACTS AND VARIABLE MICROCEPHALY OMIM
ClinVar		 PMID:33632302 NCBI chr 1:168,404,334...168,438,589
Ensembl chr 1:168,404,335...168,438,416 		JBrowse link
cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam10 ADAM metallopeptidase domain 10 IEP mRNA:increased expression:retina RGD PMID:23941810 RGD:13703031 NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889 		JBrowse link
G Agk acylglycerol kinase ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 4:69,114,850...69,193,989
Ensembl chr 4:69,114,269...69,193,934 		JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B susceptibility
treatment		 IDA
ISO
IMP		 associated with Galactosemia
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Type 2;DNA:promoter:repeat:g.(AC)n (human)
human gene in mouse model		 CTD
RGD		 PMID:21329682 PMID:21376710 PMID:25541468 PMID:28137510 PMID:17444799 More... RGD:1626083, RGD:8548672, RGD:8548671, RGD:8548638 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) RGD PMID:26320891 RGD:13434923 NCBI chr 1:239,375,657...239,407,967
Ensembl chr 1:239,375,669...239,407,890 		JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28038895 NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681 		JBrowse link
G Anxa1 annexin A1 ISO
IEP		 DNA, protein:polymorphism: :p.R212I (mouse) RGD PMID:19003866 PMID:1385581 RGD:7421556, RGD:7421566 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343 		JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16799786 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Atp2b1 ATPase plasma membrane Ca2+ transporting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15003327 NCBI chr 7:33,735,595...33,845,226
Ensembl chr 7:33,735,871...33,843,295 		JBrowse link
G B2m beta-2 microglobulin ISO associated with Diabetic Nephropathies RGD PMID:12567748 RGD:2311237 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:24728327 PMID:26694549 PMID:28492532 NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613 		JBrowse link
G Bfsp2 beaded filament structural protein 2 susceptibility ISO ClinVar Annotator: match by term: Cataract
protein:missense mutation:exon:p.R287W (human)		 ClinVar
RGD		 PMID:10729115 RGD:1600516 NCBI chr 8:104,006,226...104,063,399
Ensembl chr 8:104,006,226...104,063,399 		JBrowse link
G Brca2 BRCA2, DNA repair associated IAGP
IMP		 DNA:nonsense mutation RGD PMID:16964288 PMID:16964288 RGD:1599505, RGD:1599505 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Brca2m1Uwm BRCA2, DNA repair associated; mutation 1, University of Wisconsin-Madison IMP RGD PMID:16964288 RGD:1599505
G Casp3 caspase 3 treatment IEP RGD PMID:23508955 RGD:13782357 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Casp9 caspase 9 treatment IEP RGD PMID:23508955 RGD:13782357 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626 		JBrowse link
G Cat catalase no_association
treatment		 ISO
IEP		 protein:decreased activity:erythrocyte:
protein:decreased activity:lens:		 RGD PMID:15295623 PMID:11408722 PMID:21635889 RGD:9068905, RGD:9068911, RGD:9068909 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Cck cholecystokinin IDA associated with Diabetes Mellitus, Experimental RGD PMID:16989746 RGD:2313636 NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084 		JBrowse link
G Ccl11 C-C motif chemokine ligand 11 IEP associated with Diabetes Mellitus, Type 1;protein:increased expression:serum RGD PMID:23049540 RGD:7248415 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B IAGP
IMP		 in KO rat RGD PMID:12036912 PMID:30893315 PMID:17030811 RGD:619590, RGD:126908018, RGD:2293616 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G Cdkn1bem1Musc cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 1, Musc IMP RGD PMID:30893315 RGD:126908018
G Cdkn1bem4Musc cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 4, Musc IMP RGD PMID:30893315 RGD:126908018
G Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation IAGP RGD PMID:17030811 PMID:12036912 RGD:2293616, RGD:619590
G Clock clock circadian regulator ISO RGD PMID:21149897 RGD:10401871 NCBI chr14:31,908,542...31,992,673
Ensembl chr14:31,908,566...31,990,400 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Cataract ClinVar NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:8317498 NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Copb1 COPI coat complex subunit beta 1 ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:33632302 NCBI chr 1:168,404,334...168,438,589
Ensembl chr 1:168,404,335...168,438,416 		JBrowse link
G Cryaa crystallin, alpha A IEP
ISO
IDA		 Protein:altered localization:plasma membrane
ClinVar Annotator: match by term: Congenital cataract
protein:decreased expression:lens:
CTD Direct Evidence: marker/mechanism
Protein:increased modification		 ClinVar
CTD
RGD		 PMID:9467006 PMID:17724170 PMID:17937925 PMID:18587492 PMID:22045060 More... RGD:1600993, RGD:13503352, RGD:1600984 NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349 		JBrowse link
G Cryab crystallin, alpha B ISO
IEP		 ClinVar Annotator: match by term: Congenital cataract
protein:decreased expression:lens:
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1560021 PMID:11577372 PMID:16483541 PMID:16793013 PMID:17116488 More... RGD:13503352 NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157 		JBrowse link
G Cryba1 crystallin, beta A1 ISO
IMP		 DNA:splice-site mutation:intron:c.215+1G>A (human)
associated with Diabetes Mellitus, Type 1;mRNA,protein:increased expression:lens:
DNA:splice-site mutation:intron:IVS3+1G>A(human)
DNA:splice-site mutation:intron:IVS3+1G>T(human)		 RGD PMID:22919269 PMID:15721615 PMID:17931883 PMID:24520233 PMID:20142846 More... RGD:10059634, RGD:126925760, RGD:2303652, RGD:10059653, RGD:10059642, RGD:10059641 NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726 		JBrowse link
G Cryba1Nuc1Dbsa crystallin, beta A1;Nuc1 mutant, Dbsa IMP RGD PMID:15721615 PMID:17931883 RGD:126925760, RGD:2303652
G Cryba4 crystallin, beta A4 IEP
ISO		 protein:decreased expression:lens
ClinVar Annotator: match by term: Congenital cataract
ClinVar Annotator: match by term: Cataract, congenital		 ClinVar
RGD		 PMID:26694549 PMID:28272538 PMID:28492532 PMID:10726880 RGD:2303653 NCBI chr12:44,378,734...44,393,226
Ensembl chr12:44,378,737...44,393,221 		JBrowse link
G Crybb1 crystallin, beta B1 ISO DNA:nonsense mutation:cds:p.G220X (human)
ClinVar Annotator: match by term: Cataract, congenital
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital cataract		 ClinVar
CTD
RGD		 PMID:12360425 PMID:26694549 PMID:28272538 PMID:12360425 RGD:728217 NCBI chr12:44,369,734...44,383,344
Ensembl chr12:44,369,735...44,383,344 		JBrowse link
G Crybb2 crystallin, beta B2 susceptibility ISO congenital cerulean cataract type 2, OMIM:601547;DNA:nonsense mutation
ClinVar Annotator: match by term: Congenital cataract
DNA:nonsense mutation: :p.Q155X (human)		 ClinVar
RGD		 PMID:2240043 PMID:8812489 PMID:9158139 PMID:10634616 PMID:11424921 More... RGD:1601011, RGD:734832 NCBI chr12:43,569,747...43,579,671
Ensembl chr12:43,569,747...43,579,671 		JBrowse link
G Crybb3 crystallin, beta B3 ISO ClinVar Annotator: match by term: Congenital cataract
ClinVar Annotator: match by term: Congenital nuclear cataract		 ClinVar PMID:15914629 PMID:25741868 PMID:26694549 PMID:28492532 NCBI chr12:43,557,103...43,562,120
Ensembl chr12:43,557,103...43,562,120 		JBrowse link
G Cryga crystallin, gamma A ISS
ISO		 OMIM:601371
ClinVar Annotator: match by term: Congenital cataract		 MouseDO
ClinVar		 PMID:25741868 PMID:28839118 NCBI chr 9:66,482,176...66,512,873
Ensembl chr 9:66,482,176...66,509,896 		JBrowse link
G Crygc crystallin, gamma C susceptibility ISO Coppock-like cataract, OMIM:604307;DNA:transversion:exon:225A>C
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital cataract		 CTD
ClinVar
RGD		 PMID:10914683 PMID:11773036 PMID:24281366 PMID:26694549 PMID:10521291 RGD:1601015 NCBI chr 9:66,451,591...66,453,626
Ensembl chr 9:66,451,593...66,453,626 		JBrowse link
G Crygd crystallin, gamma D TAS
ISO		 ClinVar Annotator: match by term: Congenital cataract
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract		 ClinVar
CTD
RGD		 PMID:9927684 PMID:12011157 PMID:12676897 PMID:17724170 PMID:21827768 More... RGD:1298817 NCBI chr 9:66,442,054...66,443,668
Ensembl chr 9:66,442,054...66,444,067 		JBrowse link
G Crygs crystallin, gamma S ISO CTD Direct Evidence: marker/mechanism CTD PMID:16141006 NCBI chr11:78,207,170...78,212,273
Ensembl chr11:78,207,170...78,212,273 		JBrowse link
G Cth cystathionine gamma-lyase IDA RGD PMID:15683713 RGD:1600763 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Dennd11 DENN domain containing 11 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 4:69,197,161...69,266,013
Ensembl chr 4:69,198,068...69,228,821 		JBrowse link
G Dmd dystrophin disease_progression ISO RGD PMID:25489223 RGD:12879865 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dnase2b deoxyribonuclease 2 beta ISS OMIM:601371 MouseDO NCBI chr 2:235,470,915...235,515,211
Ensembl chr 2:235,470,919...235,486,295 		JBrowse link
G Epha2 Eph receptor A2 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:26694549 NCBI chr 5:153,605,644...153,634,115
Ensembl chr 5:153,605,644...153,634,117 		JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:5,727,111...5,845,338
Ensembl chr 1:5,727,066...5,920,555 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO DNA:mutation:cds:c.2209T>C (p.S37P) (human) RGD PMID:25951169 RGD:12880390 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
G Ero1b endoplasmic reticulum oxidoreductase 1 beta ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 PMID:33867527 NCBI chr17:85,861,086...86,003,244
Ensembl chr17:85,929,618...86,003,398 		JBrowse link
G Fas Fas cell surface death receptor ISO associated with Diabetic Retinopathy; mRNA,protein:increased expression:epithelial cell RGD PMID:12658358 RGD:2315757 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 IAGP RGD PMID:16440058 RGD:1626611 NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO mRNA:increased expression:lens, epithelial cell RGD PMID:19491954 RGD:8554856 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 8:123,412,105...123,479,315
Ensembl chr 8:123,412,112...123,479,021 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment IDA RGD PMID:24886740 RGD:10449123 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Galk1 galactokinase 1 ISO DNA:missense mutation, nonsense mutation:cds:p.V32M, p.E80X (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:7670469 PMID:7670469 RGD:1300192 NCBI chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337 		JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISS OMIM:601371 MouseDO NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544 		JBrowse link
G Gcnt2 glucosaminyl (N-acetyl) transferase 2 (I blood group) ISO DNA:nonsense mutation:exon:
ClinVar Annotator: match by term: Congenital cataract		 ClinVar
RGD		 PMID:15161861 RGD:8693611 NCBI chr17:23,796,859...23,901,625
Ensembl chr17:23,796,859...23,901,611 		JBrowse link
G Gemin4 gem (nuclear organelle) associated protein 4 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25558065 PMID:25741868 PMID:27878435 NCBI chr10:61,062,420...61,073,529
Ensembl chr10:61,066,425...61,073,431 		JBrowse link
G Gja3 gap junction protein, alpha 3 IAGP
ISO		 DNA:missense mutation
ClinVar Annotator: match by term: Congenital cataract		 ClinVar
RGD		 PMID:15208569 PMID:19182255 PMID:26694549 PMID:27609163 PMID:28492532 More... RGD:1599824 NCBI chr15:31,181,360...31,206,808
Ensembl chr15:31,181,369...31,206,810 		JBrowse link
G Gja8 gap junction protein, alpha 8 IAGP
ISO		 ClinVar Annotator: match by term: Congenital cataract
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9497259 PMID:18334946 PMID:21228318 PMID:25003127 PMID:26694549 More... RGD:629571 NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456 		JBrowse link
G Gja8m1Cas gap junction protein, alpha 8; mutant 1 Cas IAGP RGD PMID:12356818 RGD:629571
G Gpx1 glutathione peroxidase 1 IDA RGD PMID:23194826 RGD:11353787 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gsr glutathione-disulfide reductase treatment ISO
IDA		 RGD PMID:947404 PMID:24530554 RGD:1600697, RGD:10401885 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
no_association		 ISO DNA:deletion:cds (human) RGD PMID:7781744 PMID:8631631 RGD:7488949, RGD:7488950 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility
no_association		 ISO DNA:deletion:cds (human) RGD PMID:20335620 PMID:22876127 RGD:7794821, RGD:7794839 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hsf4 heat shock transcription factor 4 ISO autosomal dominant lamellar cataract, OMIM:116800
ClinVar Annotator: match by term: Cataract		 ClinVar
RGD		 PMID:12089525 RGD:1599774 NCBI chr19:33,147,755...33,153,479
Ensembl chr19:33,147,755...33,153,479 		JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:8409271 PMID:25130867 NCBI chr13:96,831,773...96,865,533
Ensembl chr13:96,831,484...96,865,501 		JBrowse link
G Ifng interferon gamma ISO RGD PMID:8188461 RGD:8157612 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il18 interleukin 18 IEP associated with Diabetes Mellitus, Type 2;mRNA:increased expression:lens RGD PMID:18006521 PMID:21591858 RGD:8655879, RGD:8655881 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Lim2 lens intrinsic membrane protein 2 onset ISO DNA:missense mutation:cds: p.F105V (human)
ClinVar Annotator: match by term: Cataract
ClinVar Annotator: match by term: Cortical pulverulent cataract
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:11917274 PMID:28450710 PMID:28492532 PMID:11917274 RGD:1600309 NCBI chr 1:93,837,597...93,843,769
Ensembl chr 1:93,837,597...93,843,769 		JBrowse link
G Lss lanosterol synthase ISO DNA:missense mutations:cds:p.W581R, p.G588S (human) RGD PMID:26200341 RGD:126925964 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762 		JBrowse link
G Maf MAF bZIP transcription factor ISO DNA:missense mutation: :p.R288P (human)
DNA:missense mutation:exon:p.Q303P (c.908A>C) (human)
DNA:missense mutation: :p.D90V (mouse)
ClinVar Annotator: match by term: Congenital cataract		 ClinVar
RGD		 PMID:25741868 PMID:26694549 PMID:11772997 PMID:24664492 PMID:17374726 RGD:1547889, RGD:13204738, RGD:13204737 NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365 		JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 IMP RGD PMID:11222509 RGD:12801446 NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147 		JBrowse link
G Miat myocardial infarction associated transcript ISO ClinVar Annotator: match by term: Cataract, congenital ClinVar PMID:28272538 NCBI chr12:44,414,620...44,429,852 JBrowse link
G Mip major intrinsic protein of lens fiber ISO ClinVar Annotator: match by term: Congenital cataract
ClinVar Annotator: match by term: Cataract
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:10802646 PMID:24120416 PMID:25741868 PMID:26694549 PMID:28492532 More... RGD:1599936 NCBI chr 7:643,502...654,573
Ensembl chr 7:647,315...654,400 		JBrowse link
G Mir221 microRNA 221 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926320 NCBI chr  X:3,429,465...3,429,573
Ensembl chr  X:3,429,465...3,429,573 		JBrowse link
G Mmaa metabolism of cobalamin associated A ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 PMID:28492532 NCBI chr19:28,619,060...28,649,319
Ensembl chr19:28,619,087...28,649,319 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:17062942 RGD:8693669 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs, haplotype: : 677C>T, 1298A>C (human) RGD PMID:16310481 RGD:7387253 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Ndrg2 NDRG family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22043305 NCBI chr15:24,600,981...24,609,621
Ensembl chr15:24,600,982...24,609,626 		JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr 9:60,129,240...60,139,452
Ensembl chr 9:60,129,154...60,139,446 		JBrowse link
G Nectin3 nectin cell adhesion molecule 3 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr11:54,362,712...54,461,316
Ensembl chr11:54,364,487...54,462,519 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 disease_progression ISO DNA:snps, haplotype:5' utr, intron:multiple (human) RGD PMID:20064547 RGD:6893326 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:26694549 NCBI chr  X:32,551,974...32,892,961
Ensembl chr  X:32,552,026...32,889,992 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 IMP RGD PMID:12714641 RGD:4892118 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:23047739 PMID:25741868 PMID:26694549 PMID:28492532 NCBI chr  X:127,089,508...127,140,362
Ensembl chr  X:127,089,590...127,140,362 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase susceptibility ISO DNA:SNP: :p.S326C (rs1052133)(human) RGD PMID:22306120 RGD:8657151 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Pank4 pantothenate kinase 4 (inactive) ISS OMIM:601371 MouseDO NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135 		JBrowse link
G Pax6 paired box 6 ISO human gene in a mouse model
ClinVar Annotator: match by term: Congenital cataract
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:25741868 PMID:26694549 PMID:29178648 PMID:30221735 PMID:10954416 More... RGD:8552253, RGD:8552372 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
G Pex11b peroxisomal biogenesis factor 11 beta ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 2:184,172,041...184,180,972
Ensembl chr 2:184,172,004...184,181,495 		JBrowse link
G Pgrmc1 progesterone receptor membrane component 1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 PMID:33867527 NCBI chr  X:115,832,865...115,841,060
Ensembl chr  X:115,832,884...115,888,682 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Lens opacity
ClinVar Annotator: match by term: Cataract		 ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28166811 PMID:28492532 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293 		JBrowse link
G Pitx3 paired-like homeodomain 3 ISO DNA:insertion:exon:c.657ins17bp
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:9620774 PMID:16565358 PMID:15665340 RGD:11535076 NCBI chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892 		JBrowse link
G Pon1 paraoxonase 1 ISO associated with Diabetes Mellitus, Type 2;protein:decreased activity:eye, lens (human) RGD PMID:19439227 RGD:8547553 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Psmc3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:32500975 NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358 		JBrowse link
G Pten phosphatase and tensin homolog ISO RGD PMID:24270425 RGD:12859033 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Pxdn peroxidasin ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:26694549 PMID:28492532 NCBI chr 6:46,580,749...46,658,345
Ensembl chr 6:46,580,761...46,658,345 		JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:32581362 NCBI chr18:26,872,423...27,104,365
Ensembl chr18:26,872,429...27,104,332 		JBrowse link
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548 		JBrowse link
G Slc16a12 solute carrier family 16, member 12 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:26694549 NCBI chr 1:232,184,004...232,262,170
Ensembl chr 1:232,185,907...232,262,141 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Cataract ClinVar NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:11222509 RGD:12801446 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Slc2a3 solute carrier family 2 member 3 IEP associated with Diabetes Mellitus, Experimental RGD PMID:12882795 RGD:2313618 NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472 		JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22243965 NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758 		JBrowse link
G Slc4a4 solute carrier family 4 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18614622 NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883 		JBrowse link
G Slc9a1 solute carrier family 9 member A1 IMP associated with Diabetes Mellitus, Experimental RGD PMID:22407349 RGD:8693684 NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624 		JBrowse link
G Sod1 superoxide dismutase 1 susceptibility ISO associated with Diabetes Mellitus, Experimental
DNA:snp:intron:IVS3-251A>G (rs2070424) (human)
mRNA:decreased expression:eye lens (human)		 RGD PMID:19324844 PMID:21921984 PMID:23970468 PMID:16254550 RGD:2312362, RGD:8655573, RGD:8655570, RGD:1581192 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sord sorbitol dehydrogenase ISS OMIM:601371 MouseDO NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133 		JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974 		JBrowse link
G Tdrd7 tudor domain containing 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital cataract		 CTD
ClinVar		 PMID:21436445 NCBI chr 5:60,238,742...60,312,548
Ensembl chr 5:60,238,678...60,312,544 		JBrowse link
G Tp53 tumor protein p53 ISO RGD PMID:21504908 RGD:8547757 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 ISS OMIM:601371 MouseDO NCBI chr 1:219,673,200...220,557,610
Ensembl chr 1:219,672,892...220,560,717 		JBrowse link
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 NCBI chr  X:116,335,308...116,353,332
Ensembl chr  X:116,335,308...116,353,236 		JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital cataract		 CTD
ClinVar		 PMID:19126778 PMID:26694549 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISS OMIM:601371 MouseDO NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein onset IMP RGD PMID:28860598 RGD:149735331 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		JBrowse link
G Wfs1em1Ptsn wolframin ER transmembrane glycoprotein; ZFN induced mutant 1 onset IMP RGD PMID:28860598 RGD:149735331
G Xdh xanthine dehydrogenase treatment IEP
ISO		 ClinVar Annotator: match by term: Lens opacity ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:25860848 RGD:13208958 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 ISO associated with Radiation Injuries RGD PMID:18334943 RGD:10401127 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
cataract 1 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Zonular Pulverulent Cataract ClinVar NCBI chr15:31,181,360...31,206,808
Ensembl chr15:31,181,369...31,206,810 		JBrowse link
G Gja8 gap junction protein, alpha 8 ISO
IAGP		 ClinVar Annotator: match by term: CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
ClinVar Annotator: match by term: Zonular Pulverulent Cataract
DNA:missense mutation:cds:p.L7Q(rat)
ClinVar Annotator: match by OMIM:116200		 OMIM
ClinVar
RGD		 PMID:9497259 PMID:10362609 PMID:10480374 PMID:11846744 PMID:12800976 More... RGD:2293186 NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456 		JBrowse link
G Gja8m1Cub gap junction protein, alpha 8; mutant 1 Cub IAGP RGD PMID:18470322 RGD:2293186
cataract 10 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba1 crystallin, beta A1 ISO ClinVar Annotator: match by term: Cataract, congenital zonular, with sutural opacities
DNA:mutation:exon:170T>A(mouse)
ClinVar Annotator: match by OMIM:600881		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:9788845 PMID:11006214 PMID:14598164 PMID:14693780 More... RGD:734831 NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726 		JBrowse link
cataract 11 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Cataract 11, posterior polar
ClinVar Annotator: match by term: CATARACT 11, MULTIPLE TYPES		 ClinVar PMID:9620774 PMID:15286169 PMID:16565358 NCBI chr 1:245,018,535...245,147,052
Ensembl chr 1:245,018,568...245,147,042 		JBrowse link
G Pitx3 paired-like homeodomain 3 ISO ClinVar Annotator: match by term: CATARACT 11, MULTIPLE TYPES
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract 11, posterior polar		 OMIM
ClinVar
CTD		 PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:16565358 More... NCBI chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892 		JBrowse link
cataract 12 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bfsp2 beaded filament structural protein 2 ISO ClinVar Annotator: match by term: Cataract 12, multiple types
ClinVar Annotator: match by OMIM:611597		 OMIM
ClinVar		 PMID:10729115 PMID:25741868 PMID:28492532 NCBI chr 8:104,006,226...104,063,399
Ensembl chr 8:104,006,226...104,063,399 		JBrowse link
cataract 13 with adult i phenotype term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gcnt2 glucosaminyl (N-acetyl) transferase 2 (I blood group) ISO ClinVar Annotator: match by term: Cataract 13 with adult i phenotype
ClinVar Annotator: match by term: Adult i Blood Group with or without Congenital Cataract
ClinVar Annotator: match by term: Adult i blood group with or without congenital cataract
ClinVar Annotator: match by term: Adult I blood group with or without congenital cataract		 OMIM
ClinVar		 PMID:11739194 PMID:12424189 PMID:22935719 PMID:25457163 PMID:25741868 More... NCBI chr17:23,796,859...23,901,625
Ensembl chr17:23,796,859...23,901,611 		JBrowse link
cataract 14 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryl1 crystallin, lambda 1 ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:31,427,011...31,545,997
Ensembl chr15:31,427,054...31,545,997 		JBrowse link
G Eef1akmt1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:31,694,289...31,711,959
Ensembl chr15:31,694,292...31,711,336 		JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3
ClinVar Annotator: match by OMIM:601885		 OMIM
ClinVar		 PMID:10205266 PMID:10746562 PMID:15208569 PMID:15286166 PMID:15448617 More... NCBI chr15:31,181,360...31,206,808
Ensembl chr15:31,181,369...31,206,810 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		JBrowse link
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:31,284,562...31,295,010
Ensembl chr15:31,284,419...31,294,582 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147 		JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:31,665,795...31,688,840 JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:31,716,762...31,807,908
Ensembl chr15:31,716,762...31,807,908 		JBrowse link
cataract 15 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mip major intrinsic protein of lens fiber ISO ClinVar Annotator: match by term: Cataract 15, multiple types OMIM
ClinVar		 PMID:3456204 PMID:9536098 PMID:10802646 PMID:10937580 PMID:16199547 More... NCBI chr 7:643,502...654,573
Ensembl chr 7:647,315...654,400 		JBrowse link
cataract 16 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Cataract 16, multiple types ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Cataract 16, multiple types
ClinVar Annotator: match by OMIM:613763		 OMIM
ClinVar		 PMID:1560021 PMID:11013455 PMID:11577372 PMID:16483541 PMID:16505043 More... NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157 		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
Ensembl chr12:44,378,737...44,393,221 		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 More... NCBI chr12:44,369,734...44,383,344
Ensembl chr12:44,369,735...44,383,344 		JBrowse link
cataract 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 ISO ClinVar Annotator: match by term: Cataract 18
ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 2
ClinVar Annotator: match by OMIM:610019		 OMIM
ClinVar		 PMID:9536098 PMID:11519376 PMID:17576681 PMID:21636066 PMID:25741868 More... NCBI chr 8:123,412,105...123,479,315
Ensembl chr 8:123,412,112...123,479,021 		JBrowse link
cataract 19 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lim2 lens intrinsic membrane protein 2 ISO ClinVar Annotator: match by term: Cataract 19, multiple types
ClinVar Annotator: match by OMIM:615277		 OMIM
ClinVar		 PMID:11917274 PMID:18596884 PMID:21386927 PMID:25741868 PMID:28450710 More... NCBI chr 1:93,837,597...93,843,769
Ensembl chr 1:93,837,597...93,843,769 		JBrowse link
cataract 2 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crygc crystallin, gamma C ISO ClinVar Annotator: match by term: Nuclear pulverulent cataract
ClinVar Annotator: match by term: Cataract 2, multiple types
ClinVar Annotator: match by term: Cataract, coppock-like
ClinVar Annotator: match by term: Cataract 2, coppock-like
ClinVar Annotator: match by OMIM:604307		 OMIM
ClinVar		 PMID:8004095 PMID:8190472 PMID:10521291 PMID:10914683 PMID:12011157 More... NCBI chr 9:66,451,591...66,453,626
Ensembl chr 9:66,451,593...66,453,626 		JBrowse link
G Crygd crystallin, gamma D ISS OMIM:604307 MouseDO NCBI chr 9:66,442,054...66,443,668
Ensembl chr 9:66,442,054...66,444,067 		JBrowse link
cataract 20 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crygs crystallin, gamma S ISO ClinVar Annotator: match by term: Cataract 20 multiple types OMIM
ClinVar		 PMID:16141006 PMID:18587492 PMID:19262743 PMID:28492532 NCBI chr11:78,207,170...78,212,273
Ensembl chr11:78,207,170...78,212,273 		JBrowse link
cataract 21 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dynlrb2 dynein light chain roadblock-type 2 ISO ClinVar Annotator: match by term: Cataract 21, multiple types ClinVar PMID:28492532 NCBI chr19:44,520,134...44,531,384
Ensembl chr19:44,520,134...44,531,387 		JBrowse link
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Cataract 21, multiple types
ClinVar Annotator: match by OMIM:610202		 OMIM
ClinVar		 PMID:11772997 PMID:12620964 PMID:16470690 PMID:17982426 PMID:22345400 More... NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365 		JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Cataract 21, multiple types ClinVar PMID:28492532 NCBI chr19:42,432,141...43,360,278 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 More... NCBI chr12:43,557,103...43,562,120
Ensembl chr12:43,557,103...43,562,120 		JBrowse link
cataract 23 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 23, multiple types OMIM
ClinVar		 PMID:15452067 PMID:16960806 PMID:20577656 PMID:24968223 PMID:25741868 More... NCBI chr12:44,378,734...44,393,226
Ensembl chr12:44,378,737...44,393,221 		JBrowse link
cataract 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja8 gap junction protein, alpha 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14627691 NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456 		JBrowse link
G Pax6 paired box 6 ISO associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human) RGD PMID:22393272 RGD:8552277 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
cataract 3 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crybb2 crystallin, beta B2 ISO ClinVar Annotator: match by term: Cataract 3, multiple types
ClinVar Annotator: match by term: CATARACT 3, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
ClinVar Annotator: match by OMIM:601547		 OMIM
ClinVar		 PMID:2240043 PMID:8812489 PMID:9158139 PMID:10634616 PMID:11424921 More... NCBI chr12:43,569,747...43,579,671
Ensembl chr12:43,569,747...43,579,671 		JBrowse link
cataract 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vim vimentin ISO ClinVar Annotator: match by term: Cataract 30
ClinVar Annotator: match by term: Cataract 30, multiple types
ClinVar Annotator: match by OMIM:116300		 OMIM
ClinVar		 PMID:19126778 PMID:25741868 PMID:26694549 PMID:28450710 PMID:28492532 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187 		JBrowse link
cataract 31 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chmp4b charged multivesicular body protein 4B ISO ClinVar Annotator: match by term: Cataract 31 multiple types
ClinVar Annotator: match by OMIM:605387		 OMIM
ClinVar		 PMID:10682967 PMID:17701905 PMID:28492532 NCBI chr 3:143,170,822...143,211,376
Ensembl chr 3:143,170,902...143,210,844 		JBrowse link
cataract 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bfsp1 beaded filament structural protein 1 ISO ClinVar Annotator: match by term: Cataract 33, multiple types
ClinVar Annotator: match by term: Cataract, cortical, juvenile-onset
ClinVar Annotator: match by OMIM:611391		 OMIM
ClinVar		 PMID:12454043 PMID:14638724 PMID:17225135 PMID:24281366 PMID:24379646 More... NCBI chr 3:131,195,087...131,252,668
Ensembl chr 3:131,195,087...131,229,337 		JBrowse link
G Esr1 estrogen receptor 1 ISO RGD PMID:12082175 RGD:734947 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
cataract 34 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxe3 forkhead box E3 ISO ClinVar Annotator: match by term: Cataract 34, multiple types ClinVar
OMIM		 PMID:17893665 PMID:27218149 PMID:28492532 PMID:34046667 NCBI chr 5:128,445,594...128,446,454
Ensembl chr 5:128,445,594...128,446,454 		JBrowse link
cataract 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdrd7 tudor domain containing 7 ISO ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 4
ClinVar Annotator: match by OMIM:613887		 OMIM
ClinVar		 PMID:21436445 PMID:25741868 PMID:28418495 PMID:28492532 NCBI chr 5:60,238,742...60,312,548
Ensembl chr 5:60,238,678...60,312,544 		JBrowse link
cataract 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agk acylglycerol kinase ISO ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 5
ClinVar Annotator: match by term: AGK-Related Disorders		 OMIM
ClinVar		 PMID:22415731 PMID:24088041 PMID:25741868 PMID:26582918 PMID:26633545 More... NCBI chr 4:69,114,850...69,193,989
Ensembl chr 4:69,114,269...69,193,934 		JBrowse link
G Dennd11 DENN domain containing 11 ISO ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 5 ClinVar NCBI chr 4:69,197,161...69,266,013
Ensembl chr 4:69,198,068...69,228,821 		JBrowse link
cataract 39 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crygb crystallin, gamma B ISO ClinVar Annotator: match by term: Cataract 39, multiple types
ClinVar Annotator: match by OMIM:615188		 OMIM
ClinVar		 PMID:23288985 PMID:25741868 PMID:28492532 NCBI chr 9:66,461,460...66,463,520
Ensembl chr 9:66,461,460...66,463,520 		JBrowse link
cataract 4 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crygd crystallin, gamma D ISO ClinVar Annotator: match by term: Cataract 4
ClinVar Annotator: match by term: CATARACT 4, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
ClinVar Annotator: match by OMIM:115700		 OMIM
ClinVar		 PMID:9927684 PMID:10521291 PMID:10688888 PMID:10915766 PMID:11371638 More... NCBI chr 9:66,442,054...66,443,668
Ensembl chr 9:66,442,054...66,444,067 		JBrowse link
cataract 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: CATARACT 40 WITH OR WITHOUT MICROCORNEA
ClinVar Annotator: match by OMIM:302200		 OMIM
ClinVar		 PMID:19414485 PMID:25741868 PMID:28492532 NCBI chr  X:32,551,974...32,892,961
Ensembl chr  X:32,552,026...32,889,992 		JBrowse link
cataract 41 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: Cataract 41
ClinVar Annotator: match by term: CATARACT 41, CONGENITAL NUCLEAR TYPE
ClinVar Annotator: match by OMIM:116400		 OMIM
ClinVar		 PMID:9856492 PMID:10521293 PMID:10679252 PMID:11260218 PMID:15605410 More... NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		JBrowse link
cataract 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba2 crystallin, beta A2 ISO OMIM NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460 		JBrowse link
cataract 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc45b unc-45 myosin chaperone B ISO ClinVar Annotator: match by term: Cataract 43 ClinVar
OMIM		 PMID:24549050 PMID:25741868 NCBI chr10:67,845,382...67,873,389
Ensembl chr10:67,845,462...67,873,389 		JBrowse link
cataract 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: Cataract 44 ClinVar
OMIM		 PMID:25741868 PMID:26200341 PMID:29016354 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762 		JBrowse link
cataract 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sipa1l3 signal-induced proliferation-associated 1 like 3 ISO ClinVar Annotator: match by term: Cataract 45 ClinVar
OMIM		 PMID:25741868 PMID:25804400 NCBI chr 1:84,618,714...84,825,956
Ensembl chr 1:84,618,719...84,703,802 		JBrowse link
cataract 46 juvenile-onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lemd2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Cataract Hutterite type OMIM
ClinVar		 PMID:4061486 PMID:23806086 PMID:23863954 PMID:24088041 PMID:26788539 More... NCBI chr20:5,282,397...5,296,621
Ensembl chr20:5,282,397...5,296,626 		JBrowse link
cataract 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a12 solute carrier family 16, member 12 ISO ClinVar Annotator: match by term: Cataract, juvenile, with microcornea and glucosuria
ClinVar Annotator: match by OMIM:612018		 OMIM
ClinVar		 PMID:17458810 PMID:18304496 PMID:21778275 PMID:25741868 PMID:26376857 NCBI chr 1:232,184,004...232,262,170
Ensembl chr 1:232,185,907...232,262,141 		JBrowse link
cataract 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmbp dynamin binding protein ISO ClinVar Annotator: match by term: Cataract 48
ClinVar Annotator: match by term: CATARACT 48		 OMIM
ClinVar		 PMID:25741868 PMID:30290152 NCBI chr 1:242,736,189...242,829,498
Ensembl chr 1:242,736,189...242,802,604 		JBrowse link
Cataract 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pank4 pantothenate kinase 4 (inactive) ISO OMIM NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135 		JBrowse link
cataract 5 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxl8 F-box and leucine-rich repeat protein 8 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar NCBI chr19:33,142,653...33,147,268
Ensembl chr19:33,142,715...33,147,262 		JBrowse link
G Hsf4 heat shock transcription factor 4 ISO ClinVar Annotator: match by term: Cataract 5 multiple types
ClinVar Annotator: match by term: Lamellar cataract
ClinVar Annotator: match by term: Cataract, zonular
ClinVar Annotator: match by OMIM:116800		 OMIM
ClinVar		 PMID:3233780 PMID:12089525 PMID:15959809 PMID:16199547 PMID:18941546 More... NCBI chr19:33,147,755...33,153,479
Ensembl chr19:33,147,755...33,153,479 		JBrowse link
G Nol3 nucleolar protein 3 ISO Cataract, early onset OMIA PMID:642468 PMID:827198 PMID:16939467 PMID:17611257 PMID:17651328 More... NCBI chr19:33,154,061...33,158,250
Ensembl chr19:33,154,062...33,158,250 		JBrowse link
cataract 6 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epha2 Eph receptor A2 ISO ClinVar Annotator: match by term: Cataract 6, multiple types
ClinVar Annotator: match by term: Age-related cortical cataract
ClinVar Annotator: match by OMIM:116600		 OMIM
ClinVar		 PMID:12167657 PMID:15965161 PMID:16051609 PMID:19005574 PMID:19306328 More... NCBI chr 5:153,605,644...153,634,115
Ensembl chr 5:153,605,644...153,634,117 		JBrowse link
cataract 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crybb2 crystallin, beta B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9158139 NCBI chr12:43,569,747...43,579,671
Ensembl chr12:43,569,747...43,579,671 		JBrowse link
G Crygd crystallin, gamma D susceptibility ISO DNA:transversion:exon:p.P23T (human) RGD PMID:12676897 RGD:1601016 NCBI chr 9:66,442,054...66,443,668
Ensembl chr 9:66,442,054...66,444,067 		JBrowse link
cataract 9 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryaa crystallin, alpha A ISO ClinVar Annotator: match by term: Cataract, autosomal dominant, multiple types, with microcornea
ClinVar Annotator: match by term: Cataract 9, autosomal recessive
ClinVar Annotator: match by OMIM:604219		 OMIM
ClinVar		 PMID:9467006 PMID:10684623 PMID:11006246 PMID:11123904 PMID:12601044 More... NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349 		JBrowse link
G Pitx3 paired-like homeodomain 3 ISO DNA:missense mutation, insertion:cds:p.S13N, G219fsX226 (human) RGD PMID:9620774 RGD:737764 NCBI chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892 		JBrowse link
Cataract Microcornea Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja8 gap junction protein, alpha 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract microcornea syndrome		 CTD
ClinVar		 PMID:9497259 PMID:10362609 PMID:10480374 PMID:11846744 PMID:12800976 More... NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456 		JBrowse link
G Maf MAF bZIP transcription factor ISO DNA:missense mutations: :p.R299S (c.895C>A), p.K320E (c.958A>G) (human) RGD PMID:19182255 RGD:13204740 NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365 		JBrowse link
Cataract, Autosomal Dominant Nuclear term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba1 crystallin, beta A1 ISO DNA:deletion:exon:c.279_281delGAG, p.G91del(human)
DNA:splice-site mutaion:intron: IVS3+2 T>G (human)		 RGD PMID:21686330 PMID:22665976 RGD:10059633, RGD:10059638 NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726 		JBrowse link
G Gja3 gap junction protein, alpha 3 ISO DNA:missense mutation:cds:p.N188T (human) RGD PMID:15448617 RGD:1578473 NCBI chr15:31,181,360...31,206,808
Ensembl chr15:31,181,369...31,206,810 		JBrowse link
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia OMIM
ClinVar		 PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 More... NCBI chr13:96,831,773...96,865,533
Ensembl chr13:96,831,484...96,865,501 		JBrowse link
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Far1 fatty acyl CoA reductase 1 ISO ClinVar Annotator: match by term: CATARACTS, SPASTIC PARAPLEGIA, AND SPEECH DELAY ClinVar
OMIM		 PMID:33239752 NCBI chr 1:167,644,622...167,705,868
Ensembl chr 1:167,644,677...167,705,730 		JBrowse link
cerebrooculofacioskeletal syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO DNA:missense mutations:p.R616W, p.D681N (human)
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
ClinVar Annotator: match by OMIM:610756		 ClinVar
OMIM
RGD		 PMID:7585650 PMID:7920640 PMID:8571952 PMID:9238033 PMID:9651581 More... RGD:1601070 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
cerebrooculofacioskeletal syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4
ClinVar Annotator: match by OMIM:610758		 OMIM
ClinVar		 PMID:17273966 PMID:23623389 PMID:25741868 PMID:28492532 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Polr1g RNA polymerase I subunit G ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:79,007,490...79,010,766
Ensembl chr 1:79,007,490...79,010,766 		JBrowse link
congenital aphakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxe3 forkhead box E3 ISO ClinVar Annotator: match by term: Aphakia, congenital primary
ClinVar Annotator: match by term: Congenital primary aphakia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:3550563 PMID:11159941 PMID:11980846 PMID:16826526 PMID:19708017 More... NCBI chr 5:128,445,594...128,446,454
Ensembl chr 5:128,445,594...128,446,454 		JBrowse link
Congenital Cataracts, Facial Dysmorphism, and Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctdp1 CTD phosphatase subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Cataracts, Facial Dysmorphism, and Neuropathy		 OMIM
CTD
ClinVar		 PMID:14517542 PMID:15322984 PMID:16194727 PMID:25741868 NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457 		JBrowse link
Congenital Cataracts, Hearing Loss, and Neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Congenital cataracts, hearing loss, and neurodegeneration
ClinVar Annotator: match by This custom term has been created by RGD curators.		 OMIM
ClinVar		 PMID:15902551 PMID:22243965 PMID:22508683 PMID:31194315 NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758 		JBrowse link
congenital muscular dystrophy with cataracts and intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inpp5k inositol polyphosphate-5-phosphatase K ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY
ClinVar Annotator: match by term: Muscular dystrophy, congenital, with cataracts and intellectual disability		 ClinVar
OMIM		 PMID:25741868 PMID:28190456 PMID:28190459 PMID:28492532 NCBI chr10:60,474,262...60,495,813
Ensembl chr10:60,475,897...60,496,773 		JBrowse link
cortical senile cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epha2 Eph receptor A2 ISO ClinVar Annotator: match by term: Cortical senile cataract ClinVar PMID:19649315 PMID:20625407 PMID:22645087 PMID:22829731 PMID:23447127 More... NCBI chr 5:153,605,644...153,634,115
Ensembl chr 5:153,605,644...153,634,117 		JBrowse link
Crystalline Aculeiform Cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crygd crystallin, gamma D ISO ClinVar Annotator: match by term: Aculeiform cataract ClinVar PMID:9927684 PMID:10688888 PMID:11371638 PMID:12011157 PMID:12676897 More... NCBI chr 9:66,442,054...66,443,668
Ensembl chr 9:66,442,054...66,444,067 		JBrowse link
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmc3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY ClinVar
OMIM		 PMID:32500975 NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358 		JBrowse link
diabetic cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsr glutathione-disulfide reductase ISO RGD PMID:12518238 RGD:10401829 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
Ectopia Lentis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Ectopia lentis ClinVar PMID:2056446 PMID:20564469 PMID:20702823 PMID:21051722 PMID:22736615 More... NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848 		JBrowse link
G Fbn1 fibrillin 1 ISO DNA:missense mutation:cds:p.R240C (human)
ClinVar Annotator: match by term: Ectopia lentis
DNA:missense mutation:exon:p.C587R (c.1759T>C) (human)
DNA:missense mutation:exon:p.R62C (c.184C>T) (human)
DNA:missense mutation:exon:p.G214S (G640G>A) (human)
DNA:missense mutation:exon:p.Y754C (c.2262A>G) (human)
DNA:missense mutation:exon:p.C102Y (c.305G>A) (human)
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:7611299 PMID:7870075 PMID:8653794 PMID:8723076 PMID:8894692 More... RGD:1580380, RGD:12910481, RGD:12910479, RGD:12910140, RGD:12910138, RGD:12904906, RGD:1300363 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
ectopia lentis with ectopia of pupil term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Ectopia lentis et pupillae
ClinVar Annotator: match by OMIM:225200		 OMIM
ClinVar		 PMID:2056446 PMID:20564469 PMID:20702823 PMID:21051722 PMID:22736615 More... NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848 		JBrowse link
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asph aspartate-beta-hydroxylase ISO ClinVar Annotator: match by term: Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs
ClinVar Annotator: match by OMIM:601552		 OMIM
ClinVar		 PMID:11241487 PMID:23687502 PMID:24768550 PMID:25741868 PMID:30194805 NCBI chr 5:22,603,879...22,814,107
Ensembl chr 5:22,603,486...22,813,876 		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
Ensembl chr 8:90,343,134...90,343,210 		JBrowse link
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jam3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
ClinVar Annotator: match by OMIM:613730		 OMIM
ClinVar		 PMID:21109224 PMID:23255084 PMID:25741868 PMID:25741869 PMID:28492532 More... NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355 		JBrowse link
hereditary spastic paraplegia 9A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A
ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX
ClinVar Annotator: match by term: Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy
DNA:mutations:cds:p.V243L, p.R252Q(human)
ClinVar Annotator: match by OMIM:601162		 OMIM
ClinVar
RGD		 PMID:8779323 PMID:9536098 PMID:9973297 PMID:17576681 PMID:21739576 More... RGD:11056004 NCBI chr 1:239,375,657...239,407,967
Ensembl chr 1:239,375,669...239,407,890 		JBrowse link
High Myopia with Cataract and Vitreoretinal Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P3h2 prolyl 3-hydroxylase 2 ISO ClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degeneration
ClinVar Annotator: match by OMIM:614292
ClinVar Annotator: match by This custom term has been created by RGD curators.		 OMIM
ClinVar		 PMID:21885030 PMID:24172257 PMID:25469533 PMID:25741868 PMID:28492532 NCBI chr11:74,634,267...74,775,422
Ensembl chr11:74,634,267...74,775,421 		JBrowse link
hyperferritinemia-cataract syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftl1 ferritin light chain 1 ISO DNA:deletion:5' utr: (human)
ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts
ClinVar Annotator: match by term: Hyperferritinemia cataract syndrome
ClinVar Annotator: match by OMIM:600886
DNA:mutations:5'utr:		 ClinVar
OMIM
RGD		 PMID:2336358 PMID:7492760 PMID:7493028 PMID:7669675 PMID:8233801 More... RGD:1598966, RGD:5509864 NCBI chr 1:95,936,390...95,938,234
Ensembl chr 1:95,936,387...95,939,725 		JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Hyperferritinemia cataract syndrome
ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts		 ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:95,915,443...95,935,292
Ensembl chr 1:95,915,443...95,935,292 		JBrowse link
hypomyelinating leukodystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam126a family with sequence similarity 126, member A ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract
ClinVar Annotator: match by OMIM:610532		 OMIM
ClinVar		 PMID:16951682 PMID:17928815 PMID:20301737 PMID:21911699 PMID:25741868 More... NCBI chr 4:11,132,224...11,239,120
Ensembl chr 4:11,132,385...11,239,113 		JBrowse link
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gls glutaminase ISO ClinVar Annotator: match by term: Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
ClinVar Annotator: match by term: INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT		 OMIM
ClinVar		 PMID:25741868 PMID:30239721 NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900 		JBrowse link
isolated ectopia lentis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Isolated ectopia lentis ClinVar PMID:19200529 PMID:22736615 PMID:24033266 NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848 		JBrowse link
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by OMIM:212550
ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548 		JBrowse link
Isolated Microphthalmia with Cataract 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with cataract 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:32,551,974...32,892,961
Ensembl chr  X:32,552,026...32,889,992 		JBrowse link
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica
ClinVar Annotator: match by OMIM:117300		 OMIM
ClinVar		 PMID:5457846 PMID:10781099 PMID:25741868 NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917 		JBrowse link
Kahrizi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srd5a3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by term: Kahrizi syndrome
ClinVar Annotator: match by OMIM:612713		 OMIM
ClinVar		 PMID:18781183 PMID:20700148 PMID:20852264 PMID:22304929 PMID:25326635 More... NCBI chr14:32,046,415...32,060,796
Ensembl chr14:32,046,408...32,060,747 		JBrowse link
lens subluxation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Lens subluxation
ClinVar Annotator: match by term: Lens dislocation		 ClinVar PMID:7611299 PMID:7870075 PMID:8040326 PMID:8541880 PMID:8653794 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Lens subluxation ClinVar PMID:25741868 NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507 		JBrowse link
Lipodystrophy with Congenital Cataracts and Neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav1 caveolin 1 ISO ClinVar Annotator: match by term: Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome OMIM
ClinVar		 PMID:11739396 PMID:18237401 PMID:25356970 PMID:25741868 PMID:25898808 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
Marinesco-Sjogren syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sil1 SIL1 nucleotide exchange factor ISS
ISO		 OMIM:248800
ClinVar Annotator: match by term: Marinesco-Sjögren syndrome		 MouseDO
ClinVar		 PMID:10665502 PMID:12692552 PMID:16282977 PMID:16282978 PMID:17026626 More... NCBI chr18:26,872,423...27,104,365
Ensembl chr18:26,872,429...27,104,332 		JBrowse link
Marshall syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain susceptibility ISO DNA:SNP:splice junction:
ClinVar Annotator: match by term: Marshall syndrome
ClinVar Annotator: match by term: Deafness, myopia, cataract, saddle nose-Marshall type
ClinVar Annotator: match by OMIM:154780
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:7695699 PMID:8218237 PMID:9129742 PMID:9529347 PMID:9792885 More... RGD:1600881 NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
Marshall/Stickler Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Marshall/Stickler syndrome ClinVar PMID:1536174 PMID:10486316 NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
Martsolf syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:29300443 NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169 		JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Cataract-intellectual disability-hypogonadism syndrome
ClinVar Annotator: match by term: Martsolf syndrome
ClinVar Annotator: match by OMIM:212720		 OMIM
ClinVar		 PMID:9536098 PMID:16532399 PMID:17576681 PMID:18414213 PMID:23420520 More... NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478 		JBrowse link
Martsolf Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: MARTSOLF SYNDROME 2 OMIM
ClinVar		 PMID:23420520 PMID:29300443 PMID:30730599 NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169 		JBrowse link
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcna4 potassium voltage-gated channel subfamily A member 4 ISO ClinVar Annotator: match by term: Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum OMIM
ClinVar		 PMID:23181898 PMID:25741868 PMID:27582084 NCBI chr 3:93,756,399...93,778,004
Ensembl chr 3:93,756,446...93,769,162 		JBrowse link
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msmo1 methylsterol monooxygenase 1 ISO ClinVar Annotator: match by term: MICROCEPHALY, CONGENITAL CATARACTS, AND PSORIASIFORM DERMATITIS
ClinVar Annotator: match by term: Microcephaly, congenital cataract, and psoriasiform dermatitis		 ClinVar
OMIM		 PMID:21285510 PMID:24144731 NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016 		JBrowse link
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl2 ADP-ribosylation factor like GTPase 2 ISO ClinVar Annotator: match by term: MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1 OMIM
ClinVar		 PMID:30945270 NCBI chr 1:203,434,129...203,446,156
Ensembl chr 1:203,434,129...203,446,119 		JBrowse link
Microphthalmia, Cataracts, and Iris Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 ISO RGD PMID:20735985 RGD:12880033 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Microphthalmia, cataracts, and iris abnormalities		 ClinVar PMID:11341888 PMID:17661825 PMID:25741868 NCBI chr 6:104,214,842...104,240,264
Ensembl chr 6:104,217,230...104,240,018 		JBrowse link
Microspherophakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Microspherophakia ClinVar PMID:19361779 PMID:20179738 PMID:20617341 PMID:21081970 PMID:22025892 More... NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO OMIM NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay OMIM
ClinVar		 PMID:8627443 PMID:18414213 PMID:19409522 PMID:20593814 PMID:25269795 More... NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts ClinVar PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
myofibrillar myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 2
ClinVar Annotator: match by term: Alpha-B crystallinopathy
ClinVar Annotator: match by OMIM:608810		 OMIM
ClinVar		 PMID:570292 PMID:8000975 PMID:9731540 PMID:11013455 PMID:12601044 More... NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157 		JBrowse link
Nance-Horan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhs NHS actin remodeling regulator ISO DNA:snp, insertion, nonsense mutations:multiple (human)
ClinVar Annotator: match by term: Nance-Horan syndrome
ClinVar Annotator: match by OMIM:302350		 ClinVar
OMIM
RGD		 PMID:458526 PMID:2246772 PMID:14564667 PMID:15623749 PMID:16736028 More... RGD:1598795 NCBI chr  X:32,551,974...32,892,961
Ensembl chr  X:32,552,026...32,889,992 		JBrowse link
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ints1 integrator complex subunit 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES
ClinVar Annotator: match by term: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies		 ClinVar
OMIM		 PMID:25741868 PMID:28763441 PMID:30622326 PMID:31428919 NCBI chr12:14,861,312...14,886,048
Ensembl chr12:14,861,318...14,886,037 		JBrowse link
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination OMIM
ClinVar		 PMID:25741868 PMID:28132692 PMID:28492532 NCBI chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gemin4 gem (nuclear organelle) associated protein 4 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		 ClinVar
OMIM		 PMID:25558065 PMID:25741868 PMID:27878435 NCBI chr10:61,062,420...61,073,529
Ensembl chr10:61,066,425...61,073,431 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA ClinVar
OMIM		 PMID:33443317 NCBI chr 3:12,629,593...12,803,340
Ensembl chr 3:12,629,603...12,803,339 		JBrowse link
O'Donnell Pappas 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: Foveal hypoplasia and presenile cataract syndrome
ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT		 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: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT
ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome
ClinVar Annotator: match by term: Foveal hypoplasia 1 with cataract
ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies
ClinVar Annotator: match by OMIM:136520		 OMIM
ClinVar		 PMID:8640214 PMID:9727514 PMID:9931324 PMID:10441571 PMID:12868034 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
Oculoskeletodental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3c2a phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha ISO ClinVar Annotator: match by term: OCULOSKELETODENTAL SYNDROME OMIM
ClinVar		 PMID:25741868 PMID:31034465 NCBI chr 1:170,577,942...170,684,353
Ensembl chr 1:170,577,942...170,683,472 		JBrowse link
optic atrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Optic atrophy 3
ClinVar Annotator: match by term: Optic atrophy and cataract, autosomal dominant
ClinVar Annotator: match by OMIM:165300		 OMIM
ClinVar		 PMID:15342707 PMID:24136862 PMID:25159689 PMID:25205859 PMID:25741868 More... NCBI chr 1:78,881,392...78,899,549
Ensembl chr 1:78,880,114...78,901,469 		JBrowse link
PHARC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd12 abhydrolase domain containing 12, lysophospholipase ISO ClinVar Annotator: match by term: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
ClinVar Annotator: match by OMIM:612674		 OMIM
ClinVar		 PMID:20797687 PMID:23806086 PMID:24088041 PMID:24697911 PMID:25741868 More... NCBI chr 3:139,659,315...139,719,529
Ensembl chr 3:139,659,317...139,719,564 		JBrowse link
posterior polar cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Posterior polar cataract ClinVar NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157 		JBrowse link
Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities ClinVar PMID:15286169 PMID:16565358 NCBI chr 1:245,018,535...245,147,052
Ensembl chr 1:245,018,568...245,147,042 		JBrowse link
G Pitx3 paired-like homeodomain 3 ISO ClinVar Annotator: match by term: Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities
DNA:deletion:exon:c.650delG(human)		 ClinVar
RGD		 PMID:15286169 PMID:16565358 PMID:16565358 RGD:11535073 NCBI chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892 		JBrowse link
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir204 microRNA 204 ISO ClinVar Annotator: match by term: Retinal dystrophy and iris coloboma with or without congenital cataract OMIM
ClinVar		 PMID:26056285 NCBI chr 1:220,316,931...220,317,040
Ensembl chr 1:220,316,931...220,317,040 		JBrowse link
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 ISO ClinVar Annotator: match by term: RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT ClinVar PMID:26056285 NCBI chr 1:219,673,200...220,557,610
Ensembl chr 1:219,672,892...220,560,717 		JBrowse link
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rdh11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: Retinal dystrophy, juvenile cataracts, and short stature syndrome OMIM
ClinVar		 PMID:24916380 PMID:25741868 PMID:28492532 NCBI chr 6:97,979,377...97,995,252
Ensembl chr 6:97,979,378...97,995,252 		JBrowse link
Sengers syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agk acylglycerol kinase ISO ClinVar Annotator: match by term: Sengers syndrome
ClinVar Annotator: match by term: Cataract and cardiomyopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:212350		 OMIM
ClinVar
CTD		 PMID:3560758 PMID:15168109 PMID:16199547 PMID:22277967 PMID:22284826 More... NCBI chr 4:69,114,850...69,193,989
Ensembl chr 4:69,114,269...69,193,934 		JBrowse link
G Dennd11 DENN domain containing 11 ISO ClinVar Annotator: match by term: Cataract and cardiomyopathy ClinVar PMID:22277967 PMID:22284826 PMID:28492532 NCBI chr 4:69,197,161...69,266,013
Ensembl chr 4:69,198,068...69,228,821 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23266196 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
senile cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase susceptibility ISO DNA:SNP:3' UTR: (rs4585) (human) RGD PMID:29156695 RGD:126790564 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Cat catalase treatment ISO protein:decreased activity:serum: RGD PMID:23781296 PMID:16129095 RGD:9068934, RGD:10003112 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO RGD PMID:21501079 RGD:10045354 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility
no_association		 ISO DNA:missense mutation:cds:p.D312N (human)
DNA:missense mutation:cds:p.K751Q (human)		 RGD PMID:24868140 PMID:21599457 RGD:10401084, RGD:10401083 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Ghr growth hormone receptor ISO RGD PMID:16129095 RGD:10003112 NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:16129095 RGD:10003112 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gsr glutathione-disulfide reductase ISO RGD PMID:12518238 RGD:10401829 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:22446016 RGD:14700972 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism: : RGD PMID:10892871 RGD:8547933 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO RGD PMID:22446016 RGD:14700972 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B susceptibility ISO DNA:SNP: :1267A>G (human) RGD PMID:23666708 RGD:8662462 NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240 		JBrowse link
G Mt2A metallothionein 2A ISO RGD PMID:9804143 RGD:10412648 NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784 		JBrowse link
G Nat2 N-acetyltransferase 2 ISO RGD PMID:16251120 RGD:8552653 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase susceptibility ISO DNA:missense mutation:cds:p.S326C (human) RGD PMID:24868140 RGD:10401084 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Sirt1 sirtuin 1 ISO RGD PMID:21501079 RGD:10045354 NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260 		JBrowse link
G Wrn WRN RecQ like helicase susceptibility
no_association		 ISO DNA:missense mutation:cds:p.C1367R (rs1346044) (human) RGD PMID:23334603 PMID:20808731 RGD:10042984, RGD:10042985 NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:missense mutation:cds:p.G399A (human) RGD PMID:21599457 RGD:10401083 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
Spondyloocular Syndrome, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xylt2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Spondyloocular syndrome, autosomal recessive ClinVar PMID:16571645 PMID:25741868 PMID:26027496 PMID:30496831 NCBI chr10:79,605,910...79,619,482
Ensembl chr10:79,606,007...79,619,391 		JBrowse link
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects ClinVar
OMIM		 PMID:10980529 PMID:11477212 PMID:12325075 PMID:15180870 PMID:16949238 More... NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
syndromic microphthalmia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Oculofaciocardiodental syndrome ClinVar PMID:28492532 NCBI chr  X:10,183,983...10,210,948
Ensembl chr  X:10,183,068...10,210,918 		JBrowse link
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: Oculofaciocardiodental syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300166		 OMIM
ClinVar
CTD		 PMID:15004558 PMID:15770227 PMID:16829040 PMID:17517692 PMID:18414213 More... NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613 		JBrowse link
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tkfc triokinase and FMN cyclase ISO ClinVar Annotator: match by term: Triokinase and FMN cyclase deficiency syndrome ClinVar
OMIM		 PMID:25741868 PMID:32004446 NCBI chr 1:207,238,230...207,253,035
Ensembl chr 1:207,236,557...207,252,737 		JBrowse link
Vici syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epg5 ectopic P-granules autophagy protein 5 homolog ISO ClinVar Annotator: match by term: Vici syndrome
ClinVar Annotator: match by term: Absent corpus callosum cataract immunodeficiency
ClinVar Annotator: match by OMIM:242840
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3344762 PMID:9536098 PMID:17576681 PMID:23222957 PMID:23674064 More... NCBI chr18:71,403,990...71,502,079
Ensembl chr18:71,404,010...71,501,502 		JBrowse link
Warburg micro syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab18 RAB18, member RAS oncogene family ISO ClinVar Annotator: match by term: Warburg micro syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 NCBI chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043 		JBrowse link
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by OMIM:600118
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome		 ClinVar
CTD		 PMID:25741868 PMID:26467025 NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169 		JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Warburg micro syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:28492532 NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478 		JBrowse link
G Tbc1d20 TBC1 domain family, member 20 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121 		JBrowse link
Warburg micro syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Warburg micro syndrome 1 ClinVar
OMIM		 PMID:8249951 PMID:15216543 PMID:15696165 PMID:17351351 PMID:18286824 More... NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169 		JBrowse link
Warburg micro syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Warburg micro syndrome 2
ClinVar Annotator: match by OMIM:614225		 OMIM
ClinVar		 PMID:20967465 PMID:23420520 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478 		JBrowse link
Warburg micro syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab18 RAB18, member RAS oncogene family ISO ClinVar Annotator: match by term: Warburg micro syndrome 3
ClinVar Annotator: match by OMIM:614222		 OMIM
ClinVar		 PMID:21473985 PMID:23420520 PMID:25741868 PMID:28492532 PMID:29300443 NCBI chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043 		JBrowse link
Warburg micro syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d20 TBC1 domain family, member 20 ISO ClinVar Annotator: match by term: Warburg micro syndrome 4
ClinVar Annotator: match by OMIM:615663		 OMIM
ClinVar		 PMID:24239381 PMID:25741868 PMID:32740904 NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121 		JBrowse link
Weill-Marchesani Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Weill-Marchesani syndrome 2
ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant		 ClinVar
OMIM		 PMID:2005308 PMID:4750422 PMID:7802039 PMID:7870075 PMID:8653794 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
Zonular Cataract and Nystagmus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Zonular cataract and nystagmus ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:32,551,974...32,892,961
Ensembl chr  X:32,552,026...32,889,992 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      eye disease 2766
        lens disease 220
          Aphakia + 2
          Artificial Lens Implant Migration 0
          cataract + 213
          lens subluxation + 5
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          eye disease 2766
            lens disease 220
              Aphakia + 2
              Artificial Lens Implant Migration 0
              cataract + 213
              lens subluxation + 5
paths to the root