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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 2:197,803,572...197,815,058
Ensembl chr 2:197,803,584...197,814,808 		JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123441 NCBI chr 8:48,443,515...48,445,639
Ensembl chr 8:48,443,767...48,445,637 		JBrowse link
G Siah2 siah E3 ubiquitin protein ligase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24282676 NCBI chr 2:148,874,151...148,891,900
Ensembl chr 2:148,874,151...148,891,900 		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:25595726 PMID:25597510 PMID:25597511 PMID:25650066 PMID:25741868 PMID:26916670 PMID:27290639 PMID:28492532 PMID:28554332 PMID:28687938 PMID:32313153 NCBI chr 1:166,739,372...166,866,095
Ensembl chr 1:166,739,532...166,866,107 		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:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr 3:97,207,500...97,435,067
Ensembl chr 3:97,256,881...97,433,651 		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:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr 3:96,025,388...96,065,765
Ensembl chr 3:96,025,396...96,065,711 		JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:11309364 PMID:11431688 PMID:12552561 PMID:12731001 PMID:16098226 PMID:17630404 PMID:18483559 PMID:24138039 PMID:24290376 PMID:25741868 PMID:26661695 PMID:27124303 PMID:27431685 PMID:28321846 PMID:28492532 PMID:29618921 NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Immp1l inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr 3:95,955,126...96,024,316
Ensembl chr 3:95,959,703...96,024,836 		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:1954207 PMID:6988567 PMID:7550230 PMID:7666404 PMID:7951315 PMID:8111279 PMID:8111379 PMID:8364574 PMID:8640214 PMID:8689689 PMID:9138149 PMID:9482572 PMID:9651515 PMID:9727514 PMID:9792406 PMID:9931324 PMID:10234503 PMID:10737978 PMID:10887930 PMID:11284764 PMID:11309364 PMID:11431688 PMID:11479730 PMID:11553050 PMID:11826019 PMID:12015275 PMID:12552561 PMID:12634864 PMID:12721955 PMID:12731001 PMID:12868034 PMID:14561779 PMID:14744876 PMID:15086958 PMID:15579687 PMID:15846561 PMID:15889018 PMID:16098226 PMID:16493447 PMID:16712695 PMID:17148041 PMID:17406642 PMID:17417613 PMID:17568989 PMID:17595013 PMID:17630404 PMID:18241071 PMID:18483559 PMID:18776953 PMID:19218613 PMID:19862335 PMID:19876904 PMID:19898691 PMID:20054790 PMID:20577777 PMID:21397818 PMID:21423868 PMID:21848007 PMID:21850189 PMID:22171686 PMID:22361317 PMID:22509105 PMID:22692063 PMID:23734086 PMID:23761016 PMID:24138039 PMID:24390526 PMID:24737507 PMID:25678763 PMID:25741868 PMID:26535646 PMID:26661695 PMID:26694549 PMID:26849621 PMID:27081502 PMID:27124303 PMID:27307692 PMID:27431685 PMID:27455012 PMID:27463523 PMID:28321846 PMID:28488383 PMID:28492532 PMID:29217025 PMID:29618921 PMID:29780932 PMID:32860008 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624 		JBrowse link
G Rcn1 reticulocalbin 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr 3:95,404,863...95,419,110
Ensembl chr 3:95,406,284...95,418,679 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:8975729 PMID:9090524 PMID:17630404 PMID:23349334 PMID:24138039 PMID:25741868 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564 		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 5:133,724,796...133,725,656
Ensembl chr 5:133,724,796...133,725,656 		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 1:265,886,766...265,899,947
Ensembl chr 1:265,887,230...265,899,958 		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 PMID:7802039 PMID:7870075 PMID:8004112 PMID:8136837 PMID:8188302 PMID:8281141 PMID:8430317 PMID:8563763 PMID:8653794 PMID:8723076 PMID:8941093 PMID:8988160 PMID:9150726 PMID:9338581 PMID:9338588 PMID:9399842 PMID:9401003 PMID:9817919 PMID:9837823 PMID:9876915 PMID:10189222 PMID:10229672 PMID:10464652 PMID:10486319 PMID:10533071 PMID:10633129 PMID:10679954 PMID:10694921 PMID:10930463 PMID:11068200 PMID:11139245 PMID:11524736 PMID:11700157 PMID:11748851 PMID:11826022 PMID:11875032 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12161601 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12651868 PMID:12938084 PMID:14598350 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15598221 PMID:15880509 PMID:16220557 PMID:16222657 PMID:16273536 PMID:16333834 PMID:16342915 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16835936 PMID:16905551 PMID:16971892 PMID:17253931 PMID:17418587 PMID:17503327 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17701892 PMID:17718856 PMID:18079676 PMID:18087243 PMID:18310266 PMID:18435798 PMID:18615205 PMID:19012347 PMID:19059503 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19349279 PMID:19353630 PMID:19370756 PMID:19396033 PMID:19533785 PMID:19618372 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20200614 PMID:20375004 PMID:20564469 PMID:20591885 PMID:20979188 PMID:21542060 PMID:21594992 PMID:21594993 PMID:21683322 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22539873 PMID:22772377 PMID:23133647 PMID:23278365 PMID:23506379 PMID:23577066 PMID:23590259 PMID:23608731 PMID:23653584 PMID:23684891 PMID:23719250 PMID:23794388 PMID:23897642 PMID:24033266 PMID:24039054 PMID:24055113 PMID:24161884 PMID:24311428 PMID:24564502 PMID:24635535 PMID:24665001 PMID:24740214 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25203624 PMID:25326635 PMID:25504618 PMID:25519456 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25736269 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25900864 PMID:25907466 PMID:25944730 PMID:25979247 PMID:26026792 PMID:26188975 PMID:26272055 PMID:26332594 PMID:26333736 PMID:26498160 PMID:26621581 PMID:26684006 PMID:26787436 PMID:26875674 PMID:27112580 PMID:27146836 PMID:27153395 PMID:27353645 PMID:27437668 PMID:27582083 PMID:27611364 PMID:27930701 PMID:28050602 PMID:28098115 PMID:28254189 PMID:28492532 PMID:28497567 PMID:28539832 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28941062 PMID:28973303 PMID:29168297 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29848614 PMID:29907982 PMID:30311386 PMID:30675029 PMID:30739908 PMID:31008308 PMID:31163209 PMID:31211626 PMID:31506931 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120 		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 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569 		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 PMID:20702823 PMID:21051722 PMID:22736615 PMID:22871183 PMID:24033266 PMID:25741868 PMID:25975359 PMID:28492532 PMID:28642162 NCBI chr 2:197,803,572...197,815,058
Ensembl chr 2:197,803,584...197,814,808 		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: Cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation
ClinVar Annotator: match by OMIM:601088		 ClinVar
OMIM		 PMID:8834052 PMID:8867660 PMID:12072800 PMID:17935251 PMID:25865493 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748 		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 8:77,107,355...77,237,483
Ensembl chr 8:77,107,536...77,237,483 		JBrowse link
G Agk acylglycerol kinase ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 4:68,483,345...68,561,518
Ensembl chr 4:68,483,320...68,560,801 		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 PMID:21329682 PMID:21376710 PMID:25541468 PMID:28137510, PMID:17444799, PMID:24360973, PMID:18452283, PMID:21329682 RGD:1626083, RGD:8548672, RGD:8548671, RGD:8548638 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956 		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 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425 		JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28038895 NCBI chr10:47,490,168...47,499,855
Ensembl chr10:47,490,153...47,499,876 		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 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012 		JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:30311386 NCBI chr 5:173,189,590...173,209,809
Ensembl chr 5:173,189,592...173,209,768 		JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16799786 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045 		JBrowse link
G Atp2b1 ATPase plasma membrane Ca2+ transporting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15003327 NCBI chr 7:41,114,606...41,223,138
Ensembl chr 7:41,114,697...41,220,579 		JBrowse link
G B2m beta-2 microglobulin ISO associated with Diabetic Nephropathies RGD PMID:12567748 RGD:2311237 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309 		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:11,570,155...11,692,022
Ensembl chr  X:11,648,989...11,691,099 		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 PMID:10729115 RGD:1600516 NCBI chr 8:111,908,614...111,965,889
Ensembl chr 8:111,908,614...111,965,889 		JBrowse link
G Brca2 BRCA2, DNA repair associated IAGP DNA:nonsense mutation RGD PMID:16964288 RGD:1599505 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748 		JBrowse link
G Casp3 caspase 3 treatment IEP RGD PMID:23508955 RGD:13782357 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204 		JBrowse link
G Casp9 caspase 9 treatment IEP RGD PMID:23508955 RGD:13782357 NCBI chr 5:160,356,211...160,373,774
Ensembl chr 5:160,355,833...160,373,778 		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 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058 		JBrowse link
G Catsperd cation channel sperm associated auxiliary subunit delta ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:30311386 NCBI chr 9:10,390,307...10,428,666
Ensembl chr 9:10,390,308...10,427,746 		JBrowse link
G Cck cholecystokinin IDA associated with Diabetes Mellitus, Experimental RGD PMID:16989746 RGD:2313636 NCBI chr 8:130,120,525...130,127,515
Ensembl chr 8:130,120,523...130,127,392 		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 chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B IAGP RGD PMID:12036912 RGD:619590 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964 		JBrowse link
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 chr14:34,418,226...34,502,218
Ensembl chr14:34,446,616...34,502,218 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Cataract ClinVar NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:25741868 PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:8317498 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997 		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		 PMID:9467006 PMID:17724170 PMID:17937925 PMID:18587492 PMID:22045060 PMID:22140512 PMID:22347476 PMID:23379525 PMID:25018622 PMID:25694240 PMID:26694549 PMID:28179137 PMID:28492532, PMID:1424724, PMID:19120020, PMID:15042443 RGD:1600993, RGD:13503352, RGD:1600984 NCBI chr20:10,438,444...10,442,189
Ensembl chr20:10,438,444...10,442,187 		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		 PMID:1560021 PMID:11577372 PMID:16483541 PMID:16793013 PMID:17116488 PMID:20171888 PMID:21920752 PMID:22106715 PMID:22995991 PMID:23194663 PMID:23299917 PMID:24033266 PMID:25073507 PMID:25208129 PMID:25741868 PMID:26694549 PMID:26961874 PMID:28492532, PMID:19120020 RGD:13503352 NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545 		JBrowse link
G Cryba1 crystallin, beta A1 ISO 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:24520233, PMID:20142846, PMID:21850182 RGD:10059634, RGD:10059653, RGD:10059642, RGD:10059641 NCBI chr10:65,160,777...65,167,504
Ensembl chr10:65,161,152...65,167,494 		JBrowse link
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 PMID:26694549 PMID:28272538 PMID:28492532, PMID:10726880 RGD:2303653 NCBI chr12:50,407,843...50,414,434
Ensembl chr12:50,407,843...50,414,432 		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		 PMID:12360425 PMID:26694549 PMID:28272538, PMID:12360425 RGD:728217 NCBI chr12:50,390,939...50,404,550
Ensembl chr12:50,390,940...50,404,550 		JBrowse link
G Crybb2 crystallin, beta B2 susceptibility ISO congenital cerulean cataract type 2, OMIM:601547;DNA:nonsense mutation
ClinVar Annotator: match by term: Lens opacity
ClinVar Annotator: match by term: Congenital cataract
DNA:nonsense mutation: :p.Q155X (human)		 ClinVar PMID:2240043 PMID:8812489 PMID:9158139 PMID:10634616 PMID:11424921 PMID:17234267 PMID:26694549 PMID:30311386, PMID:9158139, PMID:11424921 RGD:1601011, RGD:734832 NCBI chr12:49,577,580...49,588,555
Ensembl chr12:49,578,633...49,588,555 		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 chr12:49,564,991...49,571,008
Ensembl chr12:49,565,992...49,571,006 		JBrowse link
G Cryga crystallin, gamma A ISO
ISS		 ClinVar Annotator: match by term: Congenital cataract
OMIM:601371		 ClinVar
MouseDO		 NCBI chr 9:71,828,308...71,855,900
Ensembl chr 9:71,835,883...71,852,113
Ensembl chr 9:71,835,883...71,852,113 		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		 PMID:10914683 PMID:11773036 PMID:24281366 PMID:26694549, PMID:10521291 RGD:1601015 NCBI chr 9:71,786,246...71,788,281
Ensembl chr 9:71,786,248...71,788,281 		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		 PMID:9927684 PMID:12011157 PMID:12676897 PMID:17724170 PMID:21827768 PMID:25403472 PMID:26694549 PMID:28474685 PMID:28492532 PMID:30242128, PMID:7849105 RGD:1298817 NCBI chr 9:71,776,568...71,778,323
Ensembl chr 9:71,764,318...71,778,323 		JBrowse link
G Crygs crystallin, gamma S ISO CTD Direct Evidence: marker/mechanism CTD PMID:16141006 NCBI chr11:81,796,891...81,802,172
Ensembl chr11:81,796,891...81,802,172 		JBrowse link
G Cth cystathionine gamma-lyase IDA RGD PMID:15683713 RGD:1600763 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046 		JBrowse link
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:7915755 PMID:10406988 PMID:11903362 PMID:12270007 PMID:17319284 PMID:17697869 PMID:20558929 PMID:22336472 PMID:25741868 PMID:28492532 PMID:29321515 PMID:30311386 NCBI chr 9:81,968,285...81,998,213
Ensembl chr 9:81,968,332...81,998,169 		JBrowse link
G Dennd11 DENN domain containing 11 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 4:68,569,308...68,597,626
Ensembl chr 4:68,569,691...68,597,586 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:10814720 PMID:10995508 PMID:11427181 PMID:20104611 PMID:22382802 PMID:22929031 PMID:23042628 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904 		JBrowse link
G Dmd dystrophin disease_progression ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:23352160 PMID:23871722 PMID:26467025 PMID:26743743 PMID:26990548 PMID:28492532 PMID:30311386 PMID:30415094, PMID:25489223 RGD:12879865 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259 		JBrowse link
G Dnase2b deoxyribonuclease 2 beta ISS OMIM:601371 MouseDO NCBI chr 2:252,436,363...252,475,506
Ensembl chr 2:252,436,332...252,451,999 		JBrowse link
G Epha2 Eph receptor A2 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:26694549 NCBI chr 5:159,845,773...159,874,203
Ensembl chr 5:159,845,774...159,874,206 		JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:5,448,958...5,571,512
Ensembl chr 1:5,448,958...5,571,512 		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 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610 		JBrowse link
G Fam111a FAM111 trypsin like peptidase A ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:30311386 NCBI chr 1:229,003,778...229,019,532
Ensembl chr 1:229,003,961...229,019,527 		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 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790 		JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 IAGP RGD PMID:16440058 RGD:1626611 NCBI chr15:46,339,248...46,367,302
Ensembl chr15:46,339,249...46,367,302 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO mRNA:increased expression:lens, epithelial cell RGD PMID:19491954 RGD:8554856 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681 		JBrowse link
G Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 8:132,844,042...132,910,905
Ensembl chr 8:132,844,043...132,911,193 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment IDA
ISO		 ClinVar Annotator: match by term: Lens opacity ClinVar PMID:1562739 PMID:2263506 PMID:6714986 PMID:8447319 PMID:8537082 PMID:9299858 PMID:10643148 PMID:11499668 PMID:16143877 PMID:17726510 PMID:20203002 PMID:21446359 PMID:23365477 PMID:25541721 PMID:25775246 PMID:26060661 PMID:26823837 PMID:28492532 PMID:30311386, PMID:24886740 RGD:10449123 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926 		JBrowse link
G Galk1 galactokinase 1 ISO DNA:missense mutation, nonsense mutation:cds:p.V32M, p.E80X (human)
CTD Direct Evidence: marker/mechanism		 CTD PMID:7670469, PMID:7670469 RGD:1300192 NCBI chr10:104,560,322...104,564,499
Ensembl chr10:104,560,303...104,564,480 		JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISS OMIM:601371 MouseDO NCBI chr 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468 		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 PMID:15161861 RGD:8693611 NCBI chr17:21,634,546...21,677,477
Ensembl chr17:21,634,551...21,739,408 		JBrowse link
G Gemin4 gem (nuclear organelle) associated protein 4 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25558065 PMID:27878435 NCBI chr10:64,364,808...64,375,885
Ensembl chr10:64,368,809...64,375,816 		JBrowse link
G Gja3 gap junction protein, alpha 3 IAGP
ISO		 DNA:missense mutation
ClinVar Annotator: match by term: Congenital cataract		 ClinVar PMID:15208569 PMID:19182255 PMID:26694549 PMID:27609163 PMID:28492532, PMID:16271086 RGD:1599824 NCBI chr15:37,298,607...37,325,370
Ensembl chr15:37,299,738...37,325,178 		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		 PMID:9497259 PMID:18334946 PMID:21228318 PMID:25003127 PMID:26694549 PMID:28492532, PMID:12356818 RGD:629571 NCBI chr 2:199,050,854...199,052,470
Ensembl chr 2:199,050,854...199,052,470 		JBrowse link
G Gja8m1Cas gap junction protein, alpha 8; mutant 1 Cas IAGP RGD PMID:12356818 RGD:629571
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 PMID:9600457 PMID:9620796 PMID:9819448 PMID:10204859 PMID:10369869 PMID:10376574 PMID:10422812 PMID:10477435 PMID:10508996 PMID:10544226 PMID:10607953 PMID:10633133 PMID:10633135 PMID:10713883 PMID:10751669 PMID:10782932 PMID:10807696 PMID:10982182 PMID:11313751 PMID:11313763 PMID:11386851 PMID:11483639 PMID:11493200 PMID:11668644 PMID:11918723 PMID:12072059 PMID:12081719 PMID:12172392 PMID:12176036 PMID:12239718 PMID:12522556 PMID:12684873 PMID:12786762 PMID:14070830 PMID:14986832 PMID:15040442 PMID:15070423 PMID:15113126 PMID:15359540 PMID:15365987 PMID:15482471 PMID:15666300 PMID:15954104 PMID:15967879 PMID:16088916 PMID:16336662 PMID:16380907 PMID:16773579 PMID:16868655 PMID:17428550 PMID:17553572 PMID:17993581 PMID:18294064 PMID:18414213 PMID:18804553 PMID:18925674 PMID:18985073 PMID:19371219 PMID:19375528 PMID:19925344 PMID:20073550 PMID:20236118 PMID:20301449 PMID:20739944 PMID:20815033 PMID:21056478 PMID:21465647 PMID:21468573 PMID:21910243 PMID:22567152 PMID:22855627 PMID:22975760 PMID:22981120 PMID:23489192 PMID:23757202 PMID:24033266 PMID:24158611 PMID:24346070 PMID:25741868 PMID:25937001 PMID:25999548 PMID:26467025 PMID:26940866 PMID:26969326 PMID:28492532 PMID:29362677 PMID:29501291 PMID:30311386 PMID:30872814 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277 		JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:30311386 NCBI chr10:85,273,839...85,289,886
Ensembl chr10:85,274,057...85,289,777 		JBrowse link
G Gpx1 glutathione peroxidase 1 IDA RGD PMID:23194826 RGD:11353787 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522 		JBrowse link
G Gsr glutathione-disulfide reductase treatment ISO
IDA		 RGD PMID:947404, PMID:24530554 RGD:1600697, RGD:10401885 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361 		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 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306 		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 chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526 		JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:30311386 NCBI chr 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995 		JBrowse link
G Hsf4 heat shock transcription factor 4 ISO autosomal dominant lamellar cataract, OMIM:116800
ClinVar Annotator: match by term: Cataract		 ClinVar PMID:12089525 RGD:1599774 NCBI chr19:37,225,800...37,232,048
Ensembl chr19:37,226,186...37,231,912 		JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:8409271 PMID:25130867 NCBI chr13:103,229,868...103,265,019
Ensembl chr13:103,231,387...103,264,906 		JBrowse link
G Ifng interferon gamma ISO RGD PMID:8188461 RGD:8157612 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419 		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 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299 		JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:30311386 NCBI chr 4:56,478,383...56,493,987
Ensembl chr 4:56,478,384...56,493,923 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:30311386 NCBI chr11:46,615,091...46,693,565
Ensembl chr11:46,615,200...46,693,565 		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		 PMID:11917274 PMID:28450710 PMID:28492532, PMID:11917274 RGD:1600309 NCBI chr 1:98,495,082...98,501,248
Ensembl chr 1:98,495,082...98,501,249 		JBrowse link
G Lonp1 lon peptidase 1, mitochondrial ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:30311386 NCBI chr 9:10,428,853...10,441,180
Ensembl chr 9:10,428,853...10,441,177 		JBrowse link
G Maf MAF bZIP transcription factor ISO DNA:missense mutation: :p.R288P (human)
ClinVar Annotator: match by term: Congenital cataract
DNA:missense mutation:exon:p.Q303P (c.908A>C) (human)
DNA:missense mutation: :p.D90V (mouse)		 ClinVar PMID:25741868 PMID:26694549 PMID:30311386, PMID:11772997, PMID:24664492, PMID:17374726 RGD:1547889, RGD:13204738, RGD:13204737 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748 		JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 IMP RGD PMID:11222509 RGD:12801446 NCBI chr 8:69,134,218...69,722,573
Ensembl chr 8:69,134,223...69,164,758 		JBrowse link
G Miat myocardial infarction associated transcript ISO ClinVar Annotator: match by term: Cataract, congenital ClinVar PMID:28272538 NCBI chr12:50,447,251...50,461,859 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		 PMID:10802646 PMID:25741868 PMID:26694549, PMID:10802646 RGD:1599936 NCBI chr 7:2,635,743...2,642,995
Ensembl chr 7:2,635,743...2,642,848 		JBrowse link
G Mir221 microRNA 221 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926320 NCBI chr  X:3,684,480...3,684,588
Ensembl chr  X:3,684,480...3,684,588 		JBrowse link
G Mmaa metabolism of cobalamin associated A ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 PMID:28492532 NCBI chr19:32,294,087...32,325,927
Ensembl chr19:32,308,236...32,325,927 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:17062942 RGD:8693669 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs, haplotype: : 677C>T, 1298A>C (human) RGD PMID:16310481 RGD:7387253 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:30311386 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089 		JBrowse link
G Ndrg2 NDRG family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22043305 NCBI chr15:28,305,820...28,314,459
Ensembl chr15:28,305,821...28,314,459 		JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr 9:65,478,496...65,488,708
Ensembl chr 9:65,478,496...65,488,702 		JBrowse link
G Nectin3 nectin cell adhesion molecule 3 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr11:57,897,879...57,995,193
Ensembl chr11:57,897,879...57,993,548 		JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 disease_progression ISO DNA:snps, haplotype:5' utr, intron:multiple (human) RGD PMID:20064547 RGD:6893326 NCBI chr 3:62,497,568...62,525,146
Ensembl chr 3:62,497,571...62,524,996 		JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:26694549 PMID:30311386 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 IMP RGD PMID:12714641 RGD:4892118 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647 		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:134,742,226...134,793,411
Ensembl chr  X:134,742,356...134,792,618 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase susceptibility ISO DNA:SNP: :p.S326C (rs1052133)(human) RGD PMID:22306120 RGD:8657151 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:30311386 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803 		JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:1679030 PMID:8889590 PMID:9399896 PMID:9521426 PMID:11461190 PMID:12501224 PMID:16879198 PMID:17935162 PMID:21147011 PMID:21953985 PMID:22513348 PMID:23430547 PMID:23500595 PMID:25596310 PMID:25741868 PMID:26322415 PMID:28492532 PMID:30311386 NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:20122277 PMID:20412113 PMID:20582465 PMID:20589654 PMID:21165770 PMID:21285249 PMID:21365267 PMID:24061862 PMID:24136930 PMID:24415441 PMID:25099575 PMID:25186627 PMID:25330149 PMID:25452441 PMID:25741868 PMID:25959805 PMID:26083025 PMID:26270727 PMID:26467025 PMID:26720728 PMID:26845104 PMID:27038244 PMID:27099641 PMID:27106063 PMID:28158555 PMID:28279176 PMID:28492532 PMID:30311386 NCBI chr 1:192,064,586...192,088,547
Ensembl chr 1:192,064,589...192,088,520 		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		 PMID:25741868 PMID:26694549 PMID:29178648 PMID:30221735, PMID:10954416, PMID:15161862 RGD:8552253, RGD:8552372 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624 		JBrowse link
G Pex11b peroxisomal biogenesis factor 11 beta ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 2:198,762,138...198,771,040
Ensembl chr 2:198,762,138...198,771,026 		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:28492532 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129 		JBrowse link
G Pitx3 paired-like homeodomain 3 ISO DNA:insertion:exon:c.657ins17bp
CTD Direct Evidence: marker/mechanism		 CTD PMID:9620774 PMID:16565358, PMID:15665340 RGD:11535076 NCBI chr 1:265,886,766...265,899,947
Ensembl chr 1:265,887,230...265,899,958 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:25741868 PMID:26467025 PMID:30311386 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008 		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 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372 		JBrowse link
G Prpf6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:30311386 NCBI chr 3:177,098,137...177,162,937
Ensembl chr 3:177,098,073...177,162,916 		JBrowse link
G Psmc3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 3:79,876,938...79,882,319
Ensembl chr 3:79,876,938...79,882,319 		JBrowse link
G Pten phosphatase and tensin homolog ISO RGD PMID:24270425 RGD:12859033 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832 		JBrowse link
G Pxdn peroxidasin ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:26694549 PMID:28492532 NCBI chr 6:48,866,496...48,982,368
Ensembl chr 6:48,866,601...48,980,340 		JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:30311386 NCBI chr 1:225,126,732...225,128,740
Ensembl chr 1:225,126,734...225,128,740 		JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:30311386 NCBI chr15:47,344,380...47,384,461
Ensembl chr15:47,373,120...47,383,508 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:11710892 PMID:19597050 PMID:20129283 PMID:22581653 PMID:24033266 PMID:24400668 PMID:24613995 PMID:24681144 PMID:25741868 PMID:28492532 PMID:29728395 PMID:30311386 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639 		JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:30311386 NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224 		JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:32581362 NCBI chr18:28,067,476...28,302,008
Ensembl chr18:28,067,484...28,301,863 		JBrowse link
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 6:95,816,749...95,821,729
Ensembl chr 6:95,816,749...95,821,729 		JBrowse link
G Slc16a12 solute carrier family 16, member 12 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:26694549 NCBI chr 1:252,976,071...253,054,500
Ensembl chr 1:252,976,644...253,000,760 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Cataract ClinVar NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:11222509 RGD:12801446 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897 		JBrowse link
G Slc2a3 solute carrier family 2 member 3 IEP associated with Diabetes Mellitus, Experimental RGD PMID:12882795 RGD:2313618 NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856 		JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22243965 NCBI chr 2:154,520,170...154,542,981
Ensembl chr 2:154,520,087...154,542,919 		JBrowse link
G Slc4a4 solute carrier family 4 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18614622 NCBI chr14:20,476,258...20,817,042
Ensembl chr14:20,479,323...20,920,286 		JBrowse link
G Slc9a1 solute carrier family 9 member A1 IMP associated with Diabetes Mellitus, Experimental RGD PMID:22407349 RGD:8693684 NCBI chr 5:151,573,122...151,626,360
Ensembl chr 5:151,573,092...151,627,316 		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 chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862 		JBrowse link
G Sord sorbitol dehydrogenase ISS OMIM:601371 MouseDO NCBI chr 3:114,176,127...114,207,368
Ensembl chr 3:114,176,309...114,207,366 		JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 NCBI chr 1:214,375,555...214,385,886
Ensembl chr 1:214,375,515...214,385,885 		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 5:61,557,909...61,631,719
Ensembl chr 5:61,564,864...61,631,710 		JBrowse link
G Tp53 tumor protein p53 ISO RGD PMID:21504908 RGD:8547757 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449 		JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:30311386 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214 		JBrowse link
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 NCBI chr  X:123,713,327...123,731,431
Ensembl chr  X:123,713,339...123,731,385 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:30311386 NCBI chr 1:102,207,096...102,256,779
Ensembl chr 1:102,207,096...102,255,459 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Lens opacity ClinVar PMID:28492532 PMID:30311386 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329 		JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital cataract		 CTD
ClinVar		 PMID:19126778 PMID:26694549 PMID:30311386 NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISS OMIM:601371 MouseDO NCBI chr 7:74,118,834...74,722,341 JBrowse link
G Xdh xanthine dehydrogenase treatment IEP
ISO		 ClinVar Annotator: match by term: Lens opacity ClinVar PMID:25741868 PMID:28492532, PMID:25860848 RGD:13208958 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 ISO associated with Radiation Injuries RGD PMID:18334943 RGD:10401127 NCBI chr 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678 		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 chr15:37,298,607...37,325,370
Ensembl chr15:37,299,738...37,325,178 		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		 PMID:9497259 PMID:10362609 PMID:10480374 PMID:11846744 PMID:12800976 PMID:14059288 PMID:14627691 PMID:16397066 PMID:16604058 PMID:17724170 PMID:18006672 PMID:18334946 PMID:18334966 PMID:18587493 PMID:19073179 PMID:21174522 PMID:21228318 PMID:23508780 PMID:23555834 PMID:24281366 PMID:24535056 PMID:25003127 PMID:25741868 PMID:26694549 PMID:28392901 PMID:28492532 PMID:29464339, PMID:18470322 RGD:2293186 NCBI chr 2:199,050,854...199,052,470
Ensembl chr 2:199,050,854...199,052,470 		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		 PMID:9788845 PMID:11006214 PMID:14598164 PMID:14693780 PMID:15016766 PMID:20142846 PMID:21139983 PMID:21850182 PMID:21866213 PMID:22919269 PMID:24281366 PMID:25741868 PMID:26851658 PMID:28492532, PMID:10585769 RGD:734831 NCBI chr10:65,160,777...65,167,504
Ensembl chr10:65,161,152...65,167,494 		JBrowse link
cataract 11 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 PMID:18989383 NCBI chr 1:265,886,766...265,899,947
Ensembl chr 1:265,887,230...265,899,958 		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 8:111,908,614...111,965,889
Ensembl chr 8:111,908,614...111,965,889 		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 PMID:28492532 NCBI chr17:21,634,546...21,677,477
Ensembl chr17:21,634,551...21,739,408 		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 chr15:37,543,727...37,663,586
Ensembl chr15:37,543,727...37,663,584 		JBrowse link
G Eef1akmt1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:37,813,115...37,830,932
Ensembl chr15:37,813,115...37,831,031 		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 PMID:16204255 PMID:19182255 PMID:20431721 PMID:21552498 PMID:21681855 PMID:21897748 PMID:22312188 PMID:22550389 PMID:22876138 PMID:23734083 PMID:24772942 PMID:25741868 PMID:26694549 PMID:27275416 PMID:27609163 PMID:28492532 PMID:28877251 PMID:29321356 NCBI chr15:37,298,607...37,325,370
Ensembl chr15:37,299,738...37,325,178 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277 		JBrowse link
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:37,400,888...37,411,656
Ensembl chr15:37,400,889...37,410,848 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:37,690,417...37,786,855
Ensembl chr15:37,691,345...37,784,924 		JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:37,790,211...37,807,653
Ensembl chr15:37,790,141...37,807,660 		JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Zonular pulverulent cataract 3 ClinVar PMID:28492532 NCBI chr15:37,835,580...37,926,715
Ensembl chr15:37,835,580...37,926,715 		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:10802646 PMID:10937580 PMID:16564824 PMID:18501347 PMID:20361015 PMID:21921980 PMID:24405844 PMID:25741868 PMID:27456987 PMID:28492532 NCBI chr 7:2,635,743...2,642,995
Ensembl chr 7:2,635,743...2,642,848 		JBrowse link
cataract 16 multiple types 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: Cataract 16, multiple types
ClinVar Annotator: match by OMIM:613763		 OMIM
ClinVar		 PMID:1560021 PMID:11013455 PMID:11577372 PMID:16483541 PMID:16505043 PMID:16793013 PMID:16877416 PMID:17116488 PMID:19461931 PMID:20171888 PMID:21920752 PMID:22106715 PMID:22995991 PMID:23194663 PMID:23299917 PMID:24033266 PMID:25073507 PMID:25208129 PMID:25741868 PMID:26265630 PMID:26467025 PMID:26694549 PMID:26961874 PMID:28492532 PMID:28690483 PMID:28798025 NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545 		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 chr12:50,407,843...50,414,434
Ensembl chr12:50,407,843...50,414,432 		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:12360425 PMID:16110300 PMID:17460281 PMID:20565250 PMID:21972112 PMID:25741868 PMID:28492532 PMID:33223529 NCBI chr12:50,390,939...50,404,550
Ensembl chr12:50,390,940...50,404,550 		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:11519376 PMID:21636066 PMID:25741868 PMID:28492532 NCBI chr 8:132,844,042...132,910,905
Ensembl chr 8:132,844,043...132,911,193 		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:28450710 PMID:28492532 NCBI chr 1:98,495,082...98,501,248
Ensembl chr 1:98,495,082...98,501,249 		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: Cataract 2, multiple types
ClinVar Annotator: match by term: Nuclear pulverulent cataract
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 PMID:12601044 PMID:17679936 PMID:19204787 PMID:22052681 PMID:22876111 PMID:24281366 PMID:25741868 PMID:26694549 PMID:27307692 PMID:27535533 PMID:28298635 PMID:28492532 NCBI chr 9:71,786,246...71,788,281
Ensembl chr 9:71,786,248...71,788,281 		JBrowse link
G Crygd crystallin, gamma D ISS OMIM:604307 MouseDO NCBI chr 9:71,776,568...71,778,323
Ensembl chr 9:71,764,318...71,778,323 		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 chr11:81,796,891...81,802,172
Ensembl chr11:81,796,891...81,802,172 		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 chr19:49,016,919...49,028,400
Ensembl chr19:49,016,891...49,028,404 		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 PMID:24664492 PMID:24968223 PMID:25741868 PMID:26694549 PMID:28492532 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748 		JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Cataract 21, multiple types ClinVar PMID:28492532 NCBI chr19:46,761,353...47,695,247 JBrowse link
cataract 22 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crybb3 crystallin, beta B3 ISO ClinVar Annotator: match by term: Cataract, congenital nuclear, autosomal recessive 2
ClinVar Annotator: match by OMIM:609741		 OMIM
ClinVar		 PMID:15914629 PMID:19182255 PMID:23508780 PMID:24940039 PMID:25741868 PMID:26694549 PMID:27307692 PMID:28492532 NCBI chr12:49,564,991...49,571,008
Ensembl chr12:49,565,992...49,571,006 		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:25741868 PMID:26694549 PMID:28492532 NCBI chr12:50,407,843...50,414,434
Ensembl chr12:50,407,843...50,414,432 		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 2:199,050,854...199,052,470
Ensembl chr 2:199,050,854...199,052,470 		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 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624 		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 PMID:17234267 PMID:24120835 PMID:24704203 PMID:25741868 PMID:28492532 PMID:29386872 PMID:30450742 NCBI chr12:49,577,580...49,588,555
Ensembl chr12:49,578,633...49,588,555 		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 chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212 		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 3:150,188,275...150,227,453
Ensembl chr 3:150,188,455...150,227,405 		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:17225135 PMID:24281366 PMID:24379646 PMID:28450710 PMID:28492532 NCBI chr 3:137,935,345...137,992,652
Ensembl chr 3:137,935,345...137,969,658 		JBrowse link
G Esr1 estrogen receptor 1 ISO RGD PMID:12082175 RGD:734947 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796 		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 NCBI chr 5:133,724,796...133,725,656
Ensembl chr 5:133,724,796...133,725,656 		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 5:61,557,909...61,631,719
Ensembl chr 5:61,564,864...61,631,710 		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 PMID:28492532 NCBI chr 4:68,483,345...68,561,518
Ensembl chr 4:68,483,320...68,560,801 		JBrowse link
G Dennd11 DENN domain containing 11 ISO ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 5 ClinVar NCBI chr 4:68,569,308...68,597,626
Ensembl chr 4:68,569,691...68,597,586 		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:28492532 NCBI chr 9:71,796,204...71,798,265
Ensembl chr 9:71,796,204...71,798,265 		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 PMID:12011157 PMID:12676897 PMID:16446699 PMID:17564961 PMID:17724170 PMID:18587492 PMID:19382745 PMID:19390652 PMID:19668596 PMID:21827768 PMID:22995991 PMID:23508780 PMID:23936409 PMID:25403472 PMID:25741868 PMID:26694549 PMID:28450710 PMID:28474685 PMID:28492532 NCBI chr 9:71,776,568...71,778,323
Ensembl chr 9:71,764,318...71,778,323 		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 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742 		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, CONGENITAL NUCLEAR TYPE
ClinVar Annotator: match by term: Cataract 41
ClinVar Annotator: match by OMIM:116400		 OMIM
ClinVar		 PMID:10679252 PMID:15605410 PMID:18544103 PMID:23531866 PMID:24033266 PMID:25133958 PMID:25388789 PMID:25741868 PMID:26435059 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966 		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 9:82,151,056...82,154,266
Ensembl chr 9:82,151,057...82,154,266 		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 NCBI chr10:70,262,340...70,290,445
Ensembl chr10:70,262,361...70,290,445 		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:26200341 PMID:29016354 NCBI chr20:12,844,522...12,870,474
Ensembl chr20:12,842,884...12,870,497 		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:25804400 NCBI chr 1:87,260,832...87,467,846
Ensembl chr 1:87,260,835...87,468,288 		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 PMID:31061923 NCBI chr20:5,779,742...5,786,213
Ensembl chr20:6,545,083...6,556,350 		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 OMIM:612018 OMIM
ClinVar		 PMID:17458810 PMID:18304496 PMID:21778275 PMID:26376857 NCBI chr 1:252,976,071...253,054,500
Ensembl chr 1:252,976,644...253,000,760 		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 OMIM
ClinVar		 PMID:25741868 PMID:30290152 NCBI chr 1:263,625,503...263,718,784
Ensembl chr 1:263,625,501...263,718,745 		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 chr19:37,216,696...37,225,701
Ensembl chr19:37,221,132...37,226,065 		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:18941546 PMID:20670914 PMID:24045990 PMID:24975927 PMID:25741868 PMID:28492532 NCBI chr19:37,225,800...37,232,048
Ensembl chr19:37,226,186...37,231,912 		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:9002669 PMID:12167657 PMID:15965161 PMID:16051609 PMID:19005574 PMID:19306328 PMID:19649315 PMID:20360610 PMID:20625407 PMID:22570727 PMID:22645087 PMID:22829731 PMID:23447127 PMID:24014202 PMID:24705208 PMID:24968223 PMID:25741868 PMID:26900323 PMID:28492532 NCBI chr 5:159,845,773...159,874,203
Ensembl chr 5:159,845,774...159,874,206 		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 chr12:49,577,580...49,588,555
Ensembl chr12:49,578,633...49,588,555 		JBrowse link
G Crygd crystallin, gamma D susceptibility ISO DNA:transversion:exon:p.P23T (human) RGD PMID:12676897 RGD:1601016 NCBI chr 9:71,776,568...71,778,323
Ensembl chr 9:71,764,318...71,778,323 		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 OMIM:604219
ClinVar Annotator: match by term: Cataract 9, autosomal recessive		 OMIM
ClinVar		 PMID:9467006 PMID:10684623 PMID:11006246 PMID:11123904 PMID:12601044 PMID:14512969 PMID:16564818 PMID:16735993 PMID:16862070 PMID:17296897 PMID:17724170 PMID:17937925 PMID:18085469 PMID:18302245 PMID:18587492 PMID:19182255 PMID:19503744 PMID:20079887 PMID:21042563 PMID:22045060 PMID:22140512 PMID:22216983 PMID:22347476 PMID:23255486 PMID:23379525 PMID:23508780 PMID:25018622 PMID:25694240 PMID:25741868 PMID:26542570 PMID:26694549 PMID:27307692 PMID:28179137 PMID:28492532 NCBI chr20:10,438,444...10,442,189
Ensembl chr20:10,438,444...10,442,187 		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 1:265,886,766...265,899,947
Ensembl chr 1:265,887,230...265,899,958 		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 PMID:14059288 PMID:14627691 PMID:16397066 PMID:16604058 PMID:17724170 PMID:18006672 PMID:18334946 PMID:18334966 PMID:18587493 PMID:19073179 PMID:21174522 PMID:21228318 PMID:23508780 PMID:23555834 PMID:24281366 PMID:24535056 PMID:25003127 PMID:25741868 PMID:26694549 PMID:28392901 PMID:28492532 PMID:29464339 NCBI chr 2:199,050,854...199,052,470
Ensembl chr 2:199,050,854...199,052,470 		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 chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748 		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 chr10:65,160,777...65,167,504
Ensembl chr10:65,161,152...65,167,494 		JBrowse link
G Gja3 gap junction protein, alpha 3 ISO DNA:missense mutation:cds:p.N188T (human) RGD PMID:15448617 RGD:1578473 NCBI chr15:37,298,607...37,325,370
Ensembl chr15:37,299,738...37,325,178 		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 PMID:30041933 PMID:30419932 NCBI chr13:103,229,868...103,265,019
Ensembl chr13:103,231,387...103,264,906 		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		 PMID:7585650 PMID:7920640 PMID:8571952 PMID:9238033 PMID:11443545 PMID:11710928 PMID:12820975 PMID:15494306 PMID:18510925 PMID:18637129 PMID:19934020 PMID:20944642 PMID:22826098 PMID:23221806 PMID:23232694 PMID:23800062 PMID:24033266 PMID:24252196 PMID:24418926 PMID:24448499 PMID:24728327 PMID:25620205 PMID:25741868 PMID:26556299 PMID:26884178 PMID:27004399 PMID:29478780, PMID:11443545 RGD:1601070 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344 		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 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198 		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 1:80,267,725...80,271,001
Ensembl chr 1:80,267,725...80,271,001 		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 PMID:20140963 PMID:20361012 PMID:21150893 PMID:24033266 PMID:24033328 PMID:25504734 PMID:25741868 PMID:26854927 PMID:26995144 PMID:28492532 PMID:29136273 PMID:29878917 PMID:32499604 NCBI chr 5:133,724,796...133,725,656
Ensembl chr 5:133,724,796...133,725,656 		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 chr18:76,922,913...76,985,095
Ensembl chr18:76,922,934...76,984,203 		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 2:154,520,170...154,542,981
Ensembl chr 2:154,520,087...154,542,919 		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
OMIM		 PMID:28190456 PMID:28190459 NCBI chr10:63,775,639...63,796,879
Ensembl chr10:63,776,378...63,795,899 		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 PMID:24705208 NCBI chr 5:159,845,773...159,874,203
Ensembl chr 5:159,845,774...159,874,206 		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 PMID:16446699 PMID:17724170 PMID:19382745 PMID:19390652 PMID:19668596 PMID:21827768 PMID:22995991 PMID:25403472 PMID:25741868 PMID:26694549 PMID:28450710 PMID:28474685 PMID:28492532 NCBI chr 9:71,776,568...71,778,323
Ensembl chr 9:71,764,318...71,778,323 		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 chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361 		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 PMID:22871183 PMID:24033266 PMID:25975359 PMID:28492532 PMID:28642162 NCBI chr 2:197,803,572...197,815,058
Ensembl chr 2:197,803,584...197,814,808 		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		 PMID:7611299 PMID:7870075 PMID:8653794 PMID:8723076 PMID:8894692 PMID:9399842 PMID:9401003 PMID:9837823 PMID:10533071 PMID:10633129 PMID:10874320 PMID:11700157 PMID:11992479 PMID:12402346 PMID:12938084 PMID:14695540 PMID:16220557 PMID:16222657 PMID:16835936 PMID:17253931 PMID:17418587 PMID:17627385 PMID:17657824 PMID:17663468 PMID:19159394 PMID:19293843 PMID:21542060 PMID:21895641 PMID:22772368 PMID:23577066 PMID:24033266 PMID:24161884 PMID:24793577 PMID:24941995 PMID:25326635 PMID:25504618 PMID:25741868 PMID:25812041 PMID:25852444 PMID:26133393 PMID:28492532 PMID:29543232 PMID:31227806, PMID:15054843, PMID:22219643, PMID:22950452, PMID:15733436, PMID:22393277, PMID:26558191, PMID:8136837 RGD:1580380, RGD:12910481, RGD:12910479, RGD:12910140, RGD:12910138, RGD:12904906, RGD:1300363 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120 		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 PMID:22871183 PMID:24033266 PMID:25741868 PMID:25975359 PMID:28492532 PMID:28642162 NCBI chr 2:197,803,572...197,815,058
Ensembl chr 2:197,803,584...197,814,808 		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:30194805 NCBI chr 5:22,577,680...22,799,333
Ensembl chr 5:22,577,675...22,799,349 		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 8:97,175,657...97,175,733
Ensembl chr 8:97,175,657...97,175,733 		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:32860008 NCBI chr 8:28,147,110...28,208,466
Ensembl chr 8:28,147,111...28,208,466 		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: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX
ClinVar Annotator: match by term: Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy
ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A
DNA:mutations:cds:p.V243L, p.R252Q(human)
ClinVar Annotator: match by OMIM:601162		 OMIM
ClinVar		 PMID:8779323 PMID:9973297 PMID:24913064 PMID:25741868 PMID:26026163 PMID:26297558 PMID:28492532, PMID:26297558 RGD:11056004 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425 		JBrowse link
High Myopia with Cataract and Vitreoretinal Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P3h2 prolyl 3-hydroxylase 2 ISO ClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degeneration
ClinVar Annotator: match by OMIM:614292
ClinVar Annotator: match by This custom term has been created by RGD curators.		 OMIM
ClinVar		 PMID:21885030 PMID:24172257 PMID:25469533 PMID:25741868 NCBI chr11:78,028,885...78,169,746
Ensembl chr11:78,029,038...78,169,648 		JBrowse link
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		 PMID:2336358 PMID:7492760 PMID:7493028 PMID:7669675 PMID:8233801 PMID:8781450 PMID:9226182 PMID:9292547 PMID:9414300 PMID:9414313 PMID:9726965 PMID:10366790 PMID:10366804 PMID:10383191 PMID:10759702 PMID:11703332 PMID:11849230 PMID:12199804 PMID:12200611 PMID:14662596 PMID:15690351 PMID:16900584 PMID:17182944 PMID:18414213 PMID:19176363 PMID:19800271 PMID:21907119 PMID:22881709 PMID:23300176 PMID:23421845 PMID:24766965 PMID:25741868 PMID:26633542 PMID:27096259 PMID:28492532, PMID:9292547, PMID:22020773 RGD:1598966, RGD:5509864 NCBI chr 1:101,448,190...101,450,034
Ensembl chr 1:101,448,346...101,449,829 		JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Hyperferritinemia cataract syndrome ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:101,427,195...101,447,092
Ensembl chr 1:101,427,195...101,447,092 		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:21911699 PMID:25741868 PMID:28492532 NCBI chr 4:7,661,710...7,770,179
Ensembl chr 4:7,661,558...7,770,232 		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 OMIM
ClinVar		 PMID:30239721 NCBI chr 9:54,212,622...54,284,879
Ensembl chr 9:54,212,767...54,284,872 		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 6:95,816,749...95,821,729
Ensembl chr 6:95,816,749...95,821,729 		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 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742 		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 chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713 		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 OMIM:612713 OMIM
ClinVar		 PMID:18781183 PMID:20700148 NCBI chr14:34,554,769...34,570,423
Ensembl chr14:34,556,220...34,570,356 		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 PMID:8723076 PMID:8791520 PMID:8894692 PMID:9399842 PMID:9401003 PMID:9452085 PMID:9837823 PMID:10533071 PMID:10633129 PMID:10874320 PMID:11143906 PMID:11700157 PMID:11826022 PMID:11992479 PMID:12203987 PMID:12402346 PMID:12446365 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15241795 PMID:16220557 PMID:16222657 PMID:16835936 PMID:16971892 PMID:17253931 PMID:17418587 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:18087243 PMID:18615205 PMID:19089573 PMID:19159394 PMID:19293843 PMID:19328768 PMID:19839986 PMID:21542060 PMID:21895641 PMID:21932315 PMID:22772377 PMID:23577066 PMID:24033266 PMID:24161884 PMID:24199744 PMID:24793577 PMID:24941995 PMID:25053872 PMID:25326635 PMID:25504618 PMID:25741868 PMID:25812041 PMID:25852444 PMID:26133393 PMID:28492532 PMID:29543232 PMID:31227806 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120 		JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Lens subluxation ClinVar PMID:25741868 NCBI chr17:24,653,342...24,670,457
Ensembl chr17:24,654,902...24,670,457 		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:25898808 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200 		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 PMID:17309654 PMID:18285827 PMID:19471582 PMID:20111056 PMID:22995991 PMID:23062754 PMID:24176978 PMID:24631270 PMID:25741868 PMID:26467025 PMID:26733775 PMID:28492532 NCBI chr18:28,067,476...28,302,008
Ensembl chr18:28,067,484...28,301,863 		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 OMIM:154780
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9129742 PMID:9529347 PMID:9792885 PMID:10486316 PMID:13520885 PMID:17236192 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32963807, PMID:9529347 RGD:1600881 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523 		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 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523 		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 chr13:44,578,208...44,649,876
Ensembl chr13:44,615,553...44,648,620 		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:16532399 PMID:18414213 PMID:23420520 PMID:24891604 PMID:25741868 PMID:28492532 PMID:29300443 NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423 		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 ClinVar
OMIM		 PMID:23181898 PMID:27582084 NCBI chr 3:98,293,295...98,300,763
Ensembl chr 3:98,297,554...98,300,680 		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 chr16:26,859,441...26,875,880
Ensembl chr16:26,859,397...26,875,973 		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 1:221,504,150...221,516,191
Ensembl chr 1:221,504,170...221,516,110 		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 chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by null ClinVar PMID:11341888 PMID:17661825 NCBI chr 6:108,285,031...108,308,588
Ensembl chr 6:108,285,822...108,308,587 		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 PMID:25741868 PMID:28492532 NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569 		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 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569 		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 PMID:25326635 PMID:25741868 PMID:26018198 PMID:26757139 PMID:28155230 PMID:28812649 NCBI chr10:14,059,347...14,061,703
Ensembl chr10:14,059,347...14,061,703 		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 PMID:23329375 PMID:23394784 PMID:24055113 PMID:24195946 PMID:24433488 PMID:25637381 PMID:25735680 PMID:25741868 PMID:26332594 PMID:26467025 PMID:27058611 PMID:27147545 PMID:27153395 PMID:28492532 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101 		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: Alpha-B crystallinopathy
ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 2
ClinVar Annotator: match by OMIM:608810		 OMIM
ClinVar		 PMID:570292 PMID:8000975 PMID:9731540 PMID:11013455 PMID:12601044 PMID:12812987 PMID:14681890 PMID:16483541 PMID:21130652 PMID:21337604 PMID:21920752 PMID:24033266 PMID:25741868 PMID:26265630 PMID:26542570 PMID:27226619 PMID:28492532 PMID:28798025 PMID:32420686 NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545 		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		 PMID:458526 PMID:2246772 PMID:14564667 PMID:15623749 PMID:16736028 PMID:17256798 PMID:18018428 PMID:18949062 PMID:20882036 PMID:23757202 PMID:24968223 PMID:25266737 PMID:25741868 PMID:27148795 PMID:27159028 PMID:28492532, PMID:16736028 RGD:1598795 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742 		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
OMIM		 PMID:28763441 PMID:30622326 PMID:31428919 NCBI chr12:16,950,704...16,974,896 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 NCBI chr19:25,783,686...25,801,526
Ensembl chr19:25,783,900...25,801,526 		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
OMIM		 PMID:25558065 PMID:25741868 PMID:27878435 NCBI chr10:64,364,808...64,375,885
Ensembl chr10:64,368,809...64,375,816 		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 NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Pax6 paired box 6 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 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 PMID:15086958 PMID:15629294 PMID:16407227 PMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624 		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 1:185,210,922...185,326,314
Ensembl chr 1:185,210,922...185,326,314 		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 and cataract, autosomal dominant
ClinVar Annotator: match by OMIM:165300		 OMIM
ClinVar		 PMID:15342707 PMID:24136862 PMID:25159689 PMID:25205859 PMID:25741868 PMID:28081242 PMID:28492532 NCBI chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145 		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 PMID:26257172 PMID:26467025 PMID:28492532 PMID:29571850 NCBI chr 3:146,630,298...146,690,375
Ensembl chr 3:146,630,299...146,690,375 		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 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545 		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 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 PMID:15286169 PMID:16565358, PMID:16565358 RGD:11535073 NCBI chr 1:265,886,766...265,899,947
Ensembl chr 1:265,887,230...265,899,958 		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 1:240,403,000...240,403,109
Ensembl chr 1:240,403,000...240,403,109 		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 1:239,741,572...240,757,583
Ensembl chr 1:240,355,149...240,757,583 		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 OMIM:616108 OMIM
ClinVar		 PMID:24916380 NCBI chr 6:102,356,498...102,372,618
Ensembl chr 6:102,356,492...102,372,611 		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:22277967 PMID:22284826 PMID:22415731 PMID:23266196 PMID:24088041 PMID:25326635 PMID:25741868 PMID:26582918 PMID:26633545 PMID:28492532 NCBI chr 4:68,483,345...68,561,518
Ensembl chr 4:68,483,320...68,560,801 		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 4:68,569,308...68,597,626
Ensembl chr 4:68,569,691...68,597,586 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23266196 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587 		JBrowse link
senile cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase treatment ISO protein:decreased activity:serum: RGD PMID:23781296, PMID:16129095 RGD:9068934, RGD:10003112 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO RGD PMID:21501079 RGD:10045354 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964 		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 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344 		JBrowse link
G Ghr growth hormone receptor ISO RGD PMID:16129095 RGD:10003112 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:16129095 RGD:10003112 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522 		JBrowse link
G Gsr glutathione-disulfide reductase ISO RGD PMID:12518238 RGD:10401829 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:22446016 RGD:14700972 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism: : RGD PMID:10892871 RGD:8547933 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO RGD PMID:22446016 RGD:14700972 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526 		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 chr20:4,877,638...4,880,112
Ensembl chr20:2,699,712...2,701,815 		JBrowse link
G Mt2A metallothionein 2A ISO RGD PMID:9804143 RGD:10412648 NCBI chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740 		JBrowse link
G Nat2 N-acetyltransferase 2 ISO RGD PMID:16251120 RGD:8552653 NCBI chr16:23,960,709...23,991,570
Ensembl chr16:23,961,067...23,991,570 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase susceptibility ISO DNA:missense mutation:cds:p.S326C (human) RGD PMID:24868140 RGD:10401084 NCBI chr 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326 		JBrowse link
G Sirt1 sirtuin 1 ISO RGD PMID:21501079 RGD:10045354 NCBI chr20:26,831,971...26,851,587
Ensembl chr20:26,833,357...26,852,199 		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 chr16:62,483,773...62,619,018
Ensembl chr16:62,483,761...62,615,375 		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 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678 		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 chr10:82,386,003...82,399,485
Ensembl chr10:82,386,005...82,399,485 		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 PMID:17052934 PMID:18606970 PMID:19798636 PMID:20129935 PMID:20417043 PMID:21069159 PMID:21135204 PMID:21555602 PMID:21791420 PMID:21832227 PMID:23280796 PMID:23340081 PMID:23448551 PMID:25108116 PMID:25326635 PMID:25487684 PMID:25564316 PMID:25741868 PMID:25982116 PMID:26216499 PMID:26537434 PMID:26598494 PMID:28116237 PMID:28492532 NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897 		JBrowse link
syndromic microphthalmia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 PMID:19367324 PMID:21740180 PMID:22983184 PMID:23815237 PMID:24728327 PMID:25326637 PMID:25620158 PMID:25741868 PMID:26694549 PMID:28317252 PMID:28492532 PMID:29058245 NCBI chr  X:11,570,155...11,692,022
Ensembl chr  X:11,648,989...11,691,099 		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:23222957 PMID:23674064 PMID:24033266 PMID:25331754 PMID:25741868 PMID:26854214 PMID:26917586 PMID:27343256 PMID:27577878 PMID:28168853 PMID:28492532 PMID:29130391 PMID:32313153 NCBI chr18:74,299,965...74,397,115
Ensembl chr18:74,299,931...74,395,547 		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 chr17:59,844,781...59,876,170
Ensembl chr17:59,844,781...59,876,164 		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 chr13:44,578,208...44,649,876
Ensembl chr13:44,615,553...44,648,620 		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		 NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423 		JBrowse link
G Tbc1d20 TBC1 domain family, member 20 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:147,772,006...147,790,946
Ensembl chr 3:147,772,165...147,789,158 		JBrowse link
G Zranb3 zinc finger RANBP2-type containing 3 ISO ClinVar Annotator: match by term: Warburg micro syndrome ClinVar NCBI chr13:44,661,375...44,812,430
Ensembl chr13:44,661,398...44,798,543 		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:8958326 PMID:10465117 PMID:15216543 PMID:15696165 PMID:17351351 PMID:18286824 PMID:18414213 PMID:20512159 PMID:20584031 PMID:23420520 PMID:25326635 PMID:25741868 PMID:26138576 PMID:26421802 PMID:26467025 PMID:26852512 PMID:28492532 PMID:29300443 PMID:31319225 NCBI chr13:44,578,208...44,649,876
Ensembl chr13:44,615,553...44,648,620 		JBrowse link
G Zranb3 zinc finger RANBP2-type containing 3 ISO ClinVar Annotator: match by term: Warburg micro syndrome 1 ClinVar PMID:15696165 PMID:25741868 PMID:26138576 PMID:26467025 PMID:28492532 PMID:29300443 NCBI chr13:44,661,375...44,812,430
Ensembl chr13:44,661,398...44,798,543 		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 PMID:29300443 NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423 		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 chr17:59,844,781...59,876,170
Ensembl chr17:59,844,781...59,876,164 		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 NCBI chr 3:147,772,006...147,790,946
Ensembl chr 3:147,772,165...147,789,158 		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 PMID:8723076 PMID:9338581 PMID:9399842 PMID:9401003 PMID:9837823 PMID:10464652 PMID:10533071 PMID:10633129 PMID:10930463 PMID:11068200 PMID:11524736 PMID:11700157 PMID:11748851 PMID:11826022 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12203987 PMID:12203992 PMID:12446365 PMID:12525539 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15880509 PMID:16220557 PMID:16222657 PMID:16342915 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16971892 PMID:17253931 PMID:17418587 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17701892 PMID:17718856 PMID:18079676 PMID:18087243 PMID:18310266 PMID:18435798 PMID:18615205 PMID:19012347 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19353630 PMID:19533785 PMID:19618372 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20375004 PMID:20564469 PMID:21542060 PMID:21883168 PMID:21895641 PMID:21907952 PMID:22772377 PMID:23506379 PMID:23577066 PMID:23608731 PMID:23719250 PMID:23794388 PMID:24033266 PMID:24161884 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25326635 PMID:25504618 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25907466 PMID:25944730 PMID:26272055 PMID:26333736 PMID:26498160 PMID:26621581 PMID:26787436 PMID:27146836 PMID:27153395 PMID:27353645 PMID:27437668 PMID:27582083 PMID:27611364 PMID:27930701 PMID:28050602 PMID:28098115 PMID:28492532 PMID:28539832 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28973303 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29848614 PMID:29907982 PMID:30311386 PMID:30675029 PMID:30739908 PMID:31163209 PMID:31211626 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120 		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 NCBI chr  X:34,312,102...34,675,912
Ensembl chr  X:34,623,405...34,673,742 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    sensory system disease 5285
      eye disease 2714
        lens disease 222
          Aphakia + 2
          Artificial Lens Implant Migration 0
          cataract + 215
          lens subluxation + 5
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          eye disease 2714
            lens disease 222
              Aphakia + 2
              Artificial Lens Implant Migration 0
              cataract + 215
              lens subluxation + 5
paths to the root