Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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:cataract
go back to main search page
Accession:DOID:83 term browser browse the term
Definition:A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision. (DO)
Synonyms:exact_synonym: Lens Opacification;   cataracts;   lens opacities;   lens opacity;   membranous cataract;   membranous cataracts;   pseudoaphakia;   pseudoaphakias
 narrow_synonym: CONGENITAL NUCLEAR CATARACT;   CORTICAL PULVERULENT CATARACT;   congenital cataract
 primary_id: MESH:D002386
 xref: EFO:0001059;   ICD10CM:H26;   ICD9CM:366.8;   MIM:PS116200;   MONDO:0005129
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930447C04Rik RIKEN cDNA 4930447C04 gene ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr12:72,926,967...72,964,742
Ensembl chr12:72,927,883...72,987,548 		JBrowse link
G Acvr1 activin A receptor, type 1 IMP RGD PMID:21504908 RGD:8547757 NCBI chr 2:58,336,450...58,456,840
Ensembl chr 2:58,278,656...58,457,169 		JBrowse link
G Adam10 a disintegrin and metallopeptidase domain 10 ISO mRNA:increased expression:retina RGD PMID:23941810 RGD:13703031 NCBI chr 9:70,586,133...70,687,511
Ensembl chr 9:70,586,279...70,687,511 		JBrowse link
G Agk acylglycerol kinase ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 6:40,302,010...40,378,723
Ensembl chr 6:40,302,106...40,373,696 		JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B susceptibility
treatment		 ISO associated with Galactosemia
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Type 2;DNA:promoter:repeat:g.(AC)n (human)
human gene in mouse model		 CTD
RGD		 PMID:21329682 PMID:21376710 PMID:25541468 PMID:28137510 PMID:17444799 More... RGD:1626083, RGD:8548672, RGD:8548671, RGD:8548638 NCBI chr 6:34,280,865...34,294,424
Ensembl chr 6:34,279,369...34,294,413 		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 chr19:40,538,701...40,576,907
Ensembl chr19:40,538,701...40,576,907 		JBrowse link
G Aldh3a1 aldehyde dehydrogenase family 3, subfamily A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28038895 NCBI chr11:61,099,336...61,109,244
Ensembl chr11:61,098,363...61,109,247 		JBrowse link
G Anxa1 annexin A1 IAGP
ISO		 DNA, protein:polymorphism: :p.R212I (mouse) RGD PMID:19003866 PMID:1385581 RGD:7421556, RGD:7421566 NCBI chr19:20,350,798...20,368,035
Ensembl chr19:20,350,792...20,368,308 		JBrowse link
G Atm ataxia telangiectasia mutated ISO CTD Direct Evidence: marker/mechanism CTD PMID:16799786 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040 		JBrowse link
G Atp2b1 ATPase, Ca++ transporting, plasma membrane 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15003327 NCBI chr10:98,750,243...98,862,005
Ensembl chr10:98,750,268...98,862,005 		JBrowse link
G B2m beta-2 microglobulin ISO associated with Diabetic Nephropathies RGD PMID:12567748 RGD:2311237 NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564 		JBrowse link
G Bcor BCL6 interacting corepressor ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Congenital cataract		 ClinVar
RGD		 PMID:24728327 PMID:26694549 PMID:28492532 PMID:15004558 RGD:1600504 NCBI chr  X:11,902,976...12,026,769
Ensembl chr  X:11,902,979...12,026,594 		JBrowse link
G Bfsp1 beaded filament structural protein 1, in lens-CP94 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr 2:143,668,448...143,757,320
Ensembl chr 2:143,668,448...143,705,093 		JBrowse link
G Bfsp2 beaded filament structural protein 2, phakinin susceptibility ISO protein:missense mutation:exon:p.R287W (human)
ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract		 ClinVar
RGD		 PMID:25741868 PMID:10729115 RGD:1600516 NCBI chr 9:103,302,123...103,357,608
Ensembl chr 9:103,302,123...103,357,619 		JBrowse link
G Brca2 breast cancer 2, early onset ISO DNA:nonsense mutation RGD PMID:16964288 RGD:1599505 NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794 		JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:23508955 RGD:13782357 NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724 		JBrowse link
G Casp9 caspase 9 treatment ISO RGD PMID:23508955 RGD:13782357 NCBI chr 4:141,520,923...141,543,289
Ensembl chr 4:141,520,923...141,543,287 		JBrowse link
G Cat catalase no_association
treatment		 ISO protein:decreased activity:erythrocyte:
protein:decreased activity:lens:		 RGD PMID:15295623 PMID:11408722 PMID:21635889 RGD:9068905, RGD:9068911, RGD:9068909 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505 		JBrowse link
G Cck cholecystokinin ISO associated with Diabetes Mellitus, Experimental RGD PMID:16989746 RGD:2313636 NCBI chr 9:121,318,890...121,324,728
Ensembl chr 9:121,318,890...121,324,760 		JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO associated with Diabetes Mellitus, Type 1;protein:increased expression:serum RGD PMID:23049540 RGD:7248415 NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781 		JBrowse link
G Cdkn1b cyclin dependent kinase inhibitor 1B ISO RGD PMID:12036912 PMID:30893315 PMID:17030811 RGD:619590, RGD:126908018, RGD:2293616 NCBI chr 6:134,897,364...134,902,488
Ensembl chr 6:134,897,364...134,902,476 		JBrowse link
G Clock clock circadian regulator IMP RGD PMID:21149897 RGD:10401871 NCBI chr 5:76,357,715...76,452,675
Ensembl chr 5:76,357,715...76,452,639 		JBrowse link
G Col18a1 collagen, type XVIII, alpha 1 ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:12415512 PMID:16199547 PMID:19390655 PMID:25456301 PMID:28492532 NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382 		JBrowse link
G Col2a1 collagen, type II, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8317498 NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
G Col4a1 collagen, type IV, alpha 1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:17696175 PMID:20301768 PMID:25741868 NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826 		JBrowse link
G Copb1 coatomer protein complex, subunit beta 1 ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 PMID:33632302 NCBI chr 7:113,814,794...113,853,915
Ensembl chr 7:113,814,794...113,853,946 		JBrowse link
G Cryaa crystallin, alpha A ISO Protein:altered localization:plasma membrane
ClinVar Annotator: match by term: Congenital cataract
protein:decreased expression:lens:
CTD Direct Evidence: marker/mechanism
Protein:increased modification		 ClinVar
CTD
RGD		 PMID:9467006 PMID:17724170 PMID:17937925 PMID:18587492 PMID:19503744 More... RGD:1600993, RGD:13503352, RGD:1600984 NCBI chr17:31,896,905...31,900,704
Ensembl chr17:31,896,781...31,900,707 		JBrowse link
G Cryab crystallin, alpha B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital cataract
protein:decreased expression:lens:		 CTD
ClinVar
RGD		 PMID:1560021 PMID:2299599 PMID:11577372 PMID:16483541 PMID:16793013 More... RGD:13503352 NCBI chr 9:50,657,251...50,667,936
Ensembl chr 9:50,662,625...50,667,936 		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:15721615 PMID:17931883 PMID:24520233 PMID:20142846 More... RGD:10059634, RGD:126925760, RGD:2303652, RGD:10059653, RGD:10059642, RGD:10059641 NCBI chr11:77,609,440...77,616,119
Ensembl chr11:77,609,441...77,616,109 		JBrowse link
G Cryba4 crystallin, beta A4 ISO protein:decreased expression:lens
ClinVar Annotator: match by term: Congenital cataract		 ClinVar
RGD		 PMID:25741868 PMID:26694549 PMID:28272538 PMID:28492532 PMID:10726880 RGD:2303653 NCBI chr 5:112,394,358...112,411,411
Ensembl chr 5:112,394,359...112,400,384 		JBrowse link
G Crybb1 crystallin, beta B1 ISO DNA:nonsense mutation:cds:p.G220X (human)
ClinVar Annotator: match by term: Congenital cataract
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:12360425 PMID:25741868 PMID:26694549 PMID:28272538 PMID:12360425 RGD:728217 NCBI chr 5:112,403,686...112,417,451
Ensembl chr 5:112,403,681...112,417,451 		JBrowse link
G Crybb2 crystallin, beta B2 susceptibility ISO congenital cerulean cataract type 2, OMIM:601547;DNA:nonsense mutation
ClinVar Annotator: match by term: Congenital cataract
DNA:nonsense mutation: :p.Q155X (human)		 ClinVar
RGD		 PMID:2240043 PMID:8812489 PMID:9158139 PMID:10634616 PMID:11424921 More... RGD:1601011, RGD:734832 NCBI chr 5:113,206,124...113,217,983
Ensembl chr 5:113,206,124...113,217,983 		JBrowse link
G Crybb3 crystallin, beta B3 ISO ClinVar Annotator: match by term: Cataract | 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 chr 5:113,223,705...113,230,102
Ensembl chr 5:113,223,705...113,229,450 		JBrowse link
G Cryga crystallin, gamma A IAGP
ISO		 OMIM:601371
ClinVar Annotator: match by term: Congenital cataract		 MouseDO
ClinVar		 PMID:25741868 PMID:28839118 NCBI chr 1:65,139,552...65,142,532
Ensembl chr 1:65,139,548...65,142,532 		JBrowse link
G Crygc crystallin, gamma C susceptibility ISO Coppock-like cataract, OMIM:604307;DNA:transversion:exon:225A>C
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital cataract		 CTD
ClinVar
RGD		 PMID:10914683 PMID:11773036 PMID:24281366 PMID:26694549 PMID:10521291 RGD:1601015 NCBI chr 1:65,110,684...65,112,691
Ensembl chr 1:65,110,684...65,112,848 		JBrowse link
G Crygd crystallin, gamma D ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract		 CTD
ClinVar		 PMID:9927684 PMID:12011157 PMID:12676897 PMID:17724170 PMID:21827768 More... NCBI chr 1:65,101,001...65,102,598
Ensembl chr 1:65,101,031...65,102,611 		JBrowse link
G Cryge crystallin, gamma E IAGP OMIM:601371 MouseDO NCBI chr 1:65,087,716...65,090,783
Ensembl chr 1:65,087,713...65,090,308 		JBrowse link
G Crygf crystallin, gamma F EXP CTD Direct Evidence: marker/mechanism CTD PMID:12202521 NCBI chr 1:65,965,681...65,967,470
Ensembl chr 1:65,965,679...65,967,466 		JBrowse link
G Crygs crystallin, gamma S ISO CTD Direct Evidence: marker/mechanism CTD PMID:16141006 NCBI chr16:22,623,953...22,630,160
Ensembl chr16:22,623,953...22,630,327 		JBrowse link
G Cth cystathionine gamma lyase ISO RGD PMID:15683713 RGD:1600763 NCBI chr 3:157,599,885...157,630,718
Ensembl chr 3:157,599,885...157,630,714 		JBrowse link
G Cyp51 cytochrome P450, family 51 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr 5:4,130,674...4,154,697
Ensembl chr 5:4,131,145...4,154,746 		JBrowse link
G Dmd dystrophin, muscular dystrophy disease_progression IMP RGD PMID:25489223 RGD:12879865 NCBI chr  X:81,858,244...84,248,656
Ensembl chr  X:81,992,476...84,249,747 		JBrowse link
G Dnase2b deoxyribonuclease II beta IAGP OMIM:601371 MouseDO NCBI chr 3:146,275,488...146,322,815
Ensembl chr 3:146,286,740...146,321,351 		JBrowse link
G Epha2 Eph receptor A2 ISO ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 PMID:26694549 NCBI chr 4:141,028,532...141,056,695
Ensembl chr 4:141,028,551...141,056,695 		JBrowse link
G Epm2a epilepsy, progressive myoclonic epilepsy, type 2 gene alpha ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 PMID:28492532 NCBI chr10:11,218,435...11,335,408
Ensembl chr10:11,219,148...11,335,388 		JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 IMP DNA:mutation:cds:c.2209T>C (p.S37P) (human) RGD PMID:25951169 RGD:12880390 NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619 		JBrowse link
G Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chr14:32,235,248...32,302,947
Ensembl chr14:32,235,478...32,302,947 		JBrowse link
G Ero1b endoplasmic reticulum oxidoreductase 1 beta ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 PMID:33867527 NCBI chr13:12,580,701...12,624,422
Ensembl chr13:12,580,755...12,626,285 		JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:9361030 PMID:15146463 PMID:18220287 PMID:24033266 PMID:24123792 More... NCBI chr 1:14,239,177...14,381,259
Ensembl chr 1:14,239,178...14,380,459 		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 chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:10533071 PMID:24033266 PMID:24740214 PMID:25203624 PMID:25741868 More... NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO
IAGP		 RGD PMID:16440058 PMID:16440058 RGD:1626611, RGD:1626611 NCBI chr14:63,382,599...63,419,136
Ensembl chr14:63,382,599...63,417,027 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO mRNA:increased expression:lens, epithelial cell RGD PMID:19491954 RGD:8554856 NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257 		JBrowse link
G Fyco1 FYVE and coiled-coil domain containing 1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr 9:123,618,565...123,681,110
Ensembl chr 9:123,618,565...123,680,964 		JBrowse link
G G6pdx glucose-6-phosphate dehydrogenase X-linked treatment ISO RGD PMID:24886740 RGD:10449123 NCBI chr  X:73,453,089...73,472,486
Ensembl chr  X:73,453,089...73,472,800 		JBrowse link
G Galk1 galactokinase 1 ISO DNA:missense mutation, nonsense mutation:cds:p.V32M, p.E80X (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:7670469 PMID:7670469 RGD:1300192 NCBI chr11:115,899,183...115,903,545
Ensembl chr11:115,899,283...115,903,545 		JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit IAGP OMIM:601371 MouseDO NCBI chr 9:77,661,817...77,701,771
Ensembl chr 9:77,661,817...77,701,767 		JBrowse link
G Gcnt2 glucosaminyl (N-acetyl) transferase 2 (I blood group) ISO DNA:nonsense mutation:exon:
ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract		 ClinVar
RGD		 PMID:15161861 RGD:8693611 NCBI chr13:41,013,417...41,114,368
Ensembl chr13:41,013,230...41,114,368 		JBrowse link
G Gemin4 gem nuclear organelle associated protein 4 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25558065 PMID:25741868 PMID:27878435 NCBI chr11:76,101,397...76,108,398
Ensembl chr11:76,101,397...76,108,490 		JBrowse link
G Gja3 gap junction protein, alpha 3 ISO DNA:missense mutation
ClinVar Annotator: match by term: Congenital cataract		 ClinVar
RGD		 PMID:15208569 PMID:16885921 PMID:17615540 PMID:19182255 PMID:21031021 More... RGD:1599824 NCBI chr14:57,271,917...57,295,487
Ensembl chr14:57,271,917...57,295,557 		JBrowse link
G Gja8 gap junction protein, alpha 8 ISO ClinVar Annotator: match by term: Congenital cataract
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9497259 PMID:18334946 PMID:21228318 PMID:23832966 PMID:25003127 More... RGD:1598963, RGD:629571 NCBI chr 3:96,820,882...96,833,367
Ensembl chr 3:96,820,882...96,833,336 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:23194826 RGD:11353787 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		JBrowse link
G Gsr glutathione reductase treatment ISO RGD PMID:947404 PMID:24530554 RGD:1600697, RGD:10401885 NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191 		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 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		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 chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Hsf4 heat shock transcription factor 4 ISO autosomal dominant lamellar cataract, OMIM:116800
ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract		 ClinVar
RGD		 PMID:25741868 PMID:12089525 RGD:1599774 NCBI chr 8:105,996,392...106,002,477
Ensembl chr 8:105,996,433...106,002,477 		JBrowse link
G Iars2 isoleucine-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:8409271 PMID:25130867 PMID:25741868 NCBI chr 1:185,018,839...185,061,615
Ensembl chr 1:185,016,923...185,061,593 		JBrowse link
G Ifng interferon gamma IDA RGD PMID:8188461 RGD:8157612 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Il18 interleukin 18 ISO associated with Diabetes Mellitus, Type 2;mRNA:increased expression:lens RGD PMID:18006521 PMID:21591858 RGD:8655879, RGD:8655881 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140 		JBrowse link
G Lemd2 LEM domain containing 2 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr17:27,408,574...27,426,228
Ensembl chr17:27,408,574...27,423,443 		JBrowse link
G Lim2 lens intrinsic membrane protein 2 onset ISO
IAGP		 DNA:missense mutation:cds: p.F105V (human)
ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Cortical pulverulent cataract
OMIM:601371
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:11917274 PMID:25741868 PMID:28492532 PMID:32202185 PMID:33078099 More... RGD:1600309 NCBI chr 7:43,079,523...43,085,420
Ensembl chr 7:43,079,512...43,085,420 		JBrowse link
G Lonp1 lon peptidase 1, mitochondrial ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr17:56,921,297...56,933,903
Ensembl chr17:56,921,297...56,933,887 		JBrowse link
G Lss lanosterol synthase ISO
IAGP		 OMIM:601371
ClinVar Annotator: match by term: Congenital cataract
DNA:missense mutations:cds:p.W581R, p.G588S (human)		 MouseDO
ClinVar
RGD		 PMID:25741868 PMID:16440058 PMID:26200341 RGD:1626611, RGD:126925964 NCBI chr10:76,367,303...76,392,973
Ensembl chr10:76,367,422...76,392,972 		JBrowse link
G Maf MAF bZIP transcription factor ISO
IMP		 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
RGD		 PMID:25741868 PMID:26694549 PMID:11772997 PMID:24664492 PMID:17374726 RGD:1547889, RGD:13204738, RGD:13204737 NCBI chr 8:116,429,992...116,433,633
Ensembl chr 8:116,409,681...116,434,533 		JBrowse link
G Map2k1 mitogen-activated protein kinase kinase 1 ISO RGD PMID:11222509 RGD:12801446 NCBI chr 9:64,093,066...64,160,887
Ensembl chr 9:64,093,052...64,160,913 		JBrowse link
G Miat myocardial infarction associated transcript (non-protein coding) ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:28272538 NCBI chr 5:112,361,094...112,376,814
Ensembl chr 5:112,361,094...112,377,261 		JBrowse link
G Mip major intrinsic protein of lens fiber ISO ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:10802646 PMID:24120416 PMID:25741868 PMID:26694549 PMID:28492532 More... RGD:1599936 NCBI chr10:128,061,679...128,067,681
Ensembl chr10:128,061,707...128,067,681 		JBrowse link
G Mir184 microRNA 184 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr 9:89,684,313...89,684,381
Ensembl chr 9:89,684,313...89,684,381 		JBrowse link
G Mir221 microRNA 221 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926320 NCBI chr  X:19,012,533...19,012,627
Ensembl chr  X:19,012,533...19,012,627 		JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 PMID:26467025 PMID:26694549 PMID:27468915 PMID:28492532 NCBI chr 9:111,057,296...111,100,854
Ensembl chr 9:111,057,296...111,100,859 		JBrowse link
G Mmaa methylmalonic aciduria (cobalamin deficiency) type A ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:79,990,226...80,021,637
Ensembl chr 8:79,990,227...80,021,566 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:17062942 RGD:8693669 NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs, haplotype: : 677C>T, 1298A>C (human) RGD PMID:16310481 RGD:7387253 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Ndrg2 N-myc downstream regulated gene 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22043305 NCBI chr14:52,142,738...52,151,463
Ensembl chr14:52,142,728...52,151,615 		JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr 1:58,625,556...58,635,123
Ensembl chr 1:58,625,543...58,635,123 		JBrowse link
G Nectin3 nectin cell adhesion molecule 3 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr16:46,208,028...46,318,898
Ensembl chr16:46,208,069...46,318,888 		JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 disease_progression ISO DNA:snps, haplotype:5' utr, intron:multiple (human) RGD PMID:20064547 RGD:6893326 NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985 		JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:26694549 NCBI chr  X:160,616,286...160,942,437
Ensembl chr  X:160,616,292...160,942,726 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO RGD PMID:12714641 RGD:4892118 NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474 		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:47,001,289...47,055,305
Ensembl chr  X:47,001,264...47,054,745 		JBrowse link
G Ogg1 8-oxoguanine DNA-glycosylase 1 susceptibility ISO DNA:SNP: :p.S326C (rs1052133)(human) RGD PMID:22306120 RGD:8657151 NCBI chr 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029 		JBrowse link
G Pank4 pantothenate kinase 4 IAGP OMIM:601371 MouseDO NCBI chr 4:155,048,580...155,065,395
Ensembl chr 4:155,048,580...155,065,395 		JBrowse link
G Pax6 paired box 6 ISO
IAGP
IMP		 human gene in a mouse model
ClinVar Annotator: match by term: Congenital cataract
CTD Direct Evidence: marker/mechanism
OMIM:601371		 ClinVar
CTD
MouseDO
RGD		 PMID:25741868 PMID:26694549 PMID:29178648 PMID:30221735 PMID:10954416 More... RGD:8552253, RGD:8552372 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Pex11b peroxisomal biogenesis factor 11 beta ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 3:96,542,673...96,552,697
Ensembl chr 3:96,542,692...96,552,682 		JBrowse link
G Pgrmc1 progesterone receptor membrane component 1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 PMID:33867527 NCBI chr  X:35,861,846...35,869,732
Ensembl chr  X:35,861,859...35,869,732 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28166811 PMID:28492532 NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		JBrowse link
G Pitx3 paired-like homeodomain transcription factor 3 ISO DNA:insertion:exon:c.657ins17bp
ClinVar Annotator: match by term: Congenital cataract
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9620774 PMID:16565358 PMID:25741868 PMID:15665340 RGD:11535076 NCBI chr19:46,123,720...46,136,764
Ensembl chr19:46,124,124...46,136,765 		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 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr 7:27,198,730...27,219,466
Ensembl chr 7:27,196,813...27,219,639 		JBrowse link
G Psmc3 proteasome (prosome, macropain) 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:32500975 NCBI chr 2:90,884,361...90,889,783
Ensembl chr 2:90,884,354...90,896,714 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:10564585 PMID:25741868 PMID:28492532 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
G Pten phosphatase and tensin homolog IMP RGD PMID:24270425 RGD:12859033 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Pxdn peroxidasin ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:26694549 PMID:28492532 NCBI chr12:29,986,641...30,067,657
Ensembl chr12:29,987,607...30,067,657 		JBrowse link
G Rab3gap2 RAB3 GTPase activating protein subunit 2 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr 1:184,936,287...185,018,953
Ensembl chr 1:184,936,314...185,018,956 		JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:32581362 NCBI chr18:35,399,449...35,632,443
Ensembl chr18:35,399,449...35,632,833 		JBrowse link
G Six6 sine oculis-related homeobox 6 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr12:72,986,656...72,991,673
Ensembl chr12:72,986,666...72,991,673 		JBrowse link
G Slc16a12 solute carrier family 16 (monocarboxylic acid transporters), member 12 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 PMID:26694549 NCBI chr19:34,645,801...34,725,223
Ensembl chr19:34,645,803...34,724,689 		JBrowse link
G Slc19a1 solute carrier family 19 (folate transporter), member 1 ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:12415512 PMID:25456301 PMID:28492532 NCBI chr10:76,868,103...76,886,266
Ensembl chr10:76,868,075...76,896,836 		JBrowse link
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 IGI RGD PMID:11222509 RGD:12801446 NCBI chr 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180 		JBrowse link
G Slc2a3 solute carrier family 2 (facilitated glucose transporter), member 3 ISO associated with Diabetes Mellitus, Experimental RGD PMID:12882795 RGD:2313618 NCBI chr 6:122,704,783...122,779,149
Ensembl chr 6:122,704,768...122,778,599 		JBrowse link
G Slc33a1 solute carrier family 33 (acetyl-CoA transporter), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22243965 NCBI chr 3:63,849,744...63,872,154
Ensembl chr 3:63,840,928...63,872,189 		JBrowse link
G Slc4a4 solute carrier family 4 (anion exchanger), member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18614622 NCBI chr 5:88,941,717...89,387,515
Ensembl chr 5:89,034,345...89,387,512 		JBrowse link
G Slc9a1 solute carrier family 9 (sodium/hydrogen exchanger), member 1 ISO associated with Diabetes Mellitus, Experimental RGD PMID:22407349 RGD:8693684 NCBI chr 4:133,097,022...133,151,013
Ensembl chr 4:133,097,017...133,151,013 		JBrowse link
G Sod1 superoxide dismutase 1, soluble susceptibility IMP
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 chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217 		JBrowse link
G Sord sorbitol dehydrogenase IAGP OMIM:601371 MouseDO NCBI chr 2:122,065,320...122,095,818
Ensembl chr 2:122,065,230...122,095,821 		JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:140,972,073...140,982,889
Ensembl chr 7:140,972,112...140,982,881 		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 4:45,965,335...46,034,766
Ensembl chr 4:45,965,334...46,034,761 		JBrowse link
G Trp53 transformation related protein 53 IMP RGD PMID:21504908 RGD:8547757 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 IAGP OMIM:601371 MouseDO NCBI chr19:22,114,789...22,972,774
Ensembl chr19:22,116,410...22,972,774 		JBrowse link
G Upf3b UPF3 regulator of nonsense transcripts homolog B (yeast) ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:36,355,331...36,374,124
Ensembl chr  X:36,355,331...36,373,975 		JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital cataract		 CTD
ClinVar		 PMID:19126778 PMID:26694549 NCBI chr 2:13,579,122...13,587,637
Ensembl chr 2:13,578,738...13,587,637 		JBrowse link
G Vps13b vacuolar protein sorting 13B IAGP OMIM:601371 MouseDO NCBI chr15:35,371,264...35,931,375
Ensembl chr15:35,371,306...35,931,375 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein onset ISO ClinVar Annotator: match by term: Congenital cataract ClinVar
RGD		 PMID:25741868 PMID:28860598 RGD:149735331 NCBI chr 5:37,123,448...37,146,326
Ensembl chr 5:37,123,448...37,146,549 		JBrowse link
G Xdh xanthine dehydrogenase treatment ISO ClinVar Annotator: match by term: Cataract ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:30755392 PMID:25860848 RGD:13208958 NCBI chr17:74,190,890...74,257,191
Ensembl chr17:74,190,890...74,257,191 		JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 IEP associated with Radiation Injuries RGD PMID:18334943 RGD:10401127 NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865 		JBrowse link
3-methylglutaconic aciduria type 7a term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb ClpB caseinolytic peptidase B ISO ClinVar Annotator: match by term: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA | ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIA OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32313153 PMID:34140661 NCBI chr 7:101,312,958...101,444,667
Ensembl chr 7:101,312,840...101,444,713 		JBrowse link
3-methylglutaconic aciduria type 7b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc15 anaphase promoting complex C subunit 15 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,530,508...101,551,056
Ensembl chr 7:101,512,922...101,551,056 		JBrowse link
G Arap1 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,997,296...101,061,793
Ensembl chr 7:100,997,274...101,061,793 		JBrowse link
G Arhgef17 Rho guanine nucleotide exchange factor 17 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,518,953...100,581,368
Ensembl chr 7:100,518,959...100,581,314 		JBrowse link
G Arrb1 arrestin, beta 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,184,356...99,255,979
Ensembl chr 7:99,184,673...99,255,978 		JBrowse link
G Atg16l2 autophagy related 16 like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,935,521...100,951,474
Ensembl chr 7:100,912,241...100,951,458 		JBrowse link
G C2cd3 C2 calcium-dependent domain containing 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,021,440...100,119,366
Ensembl chr 7:100,021,440...100,119,359 		JBrowse link
G Chrdl2 chordin-like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,655,611...99,683,935
Ensembl chr 7:99,655,379...99,683,935 		JBrowse link
G Clpb ClpB caseinolytic peptidase B ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25595726 PMID:25597510 More... NCBI chr 7:101,312,958...101,444,667
Ensembl chr 7:101,312,840...101,444,713 		JBrowse link
G Coa4 cytochrome c oxidase assembly factor 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,186,307...100,189,579
Ensembl chr 7:100,186,278...100,189,576 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:143,376,827...143,402,147
Ensembl chr 7:143,376,882...143,402,147 		JBrowse link
G Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,152,218...100,182,834
Ensembl chr 7:100,150,923...100,164,167 		JBrowse link
G Fam168a family with sequence similarity 168, member A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,355,594...100,490,853
Ensembl chr 7:100,355,842...100,490,863 		JBrowse link
G Fchsd2 FCH and double SH3 domains 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,757,836...100,933,613
Ensembl chr 7:100,742,070...100,933,612 		JBrowse link
G Folr1 folate receptor alpha ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,507,551...101,519,974
Ensembl chr 7:101,507,538...101,519,995 		JBrowse link
G Folr2 folate receptor beta ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,489,195...101,506,397
Ensembl chr 7:101,489,195...101,506,401 		JBrowse link
G Gdpd5 glycerophosphodiester phosphodiesterase domain containing 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,027,976...99,111,082
Ensembl chr 7:99,030,621...99,111,084 		JBrowse link
G Il18bp interleukin 18 binding protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,664,281...101,669,699
Ensembl chr 7:101,664,092...101,667,897 		JBrowse link
G Inppl1 inositol polyphosphate phosphatase-like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,471,839...101,487,419
Ensembl chr 7:101,471,839...101,487,436 		JBrowse link
G Kcne3 potassium voltage-gated channel, Isk-related subfamily, gene 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,825,714...99,834,076
Ensembl chr 7:99,825,709...99,834,076 		JBrowse link
G Klhl35 kelch-like 35 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,112,328...99,123,229
Ensembl chr 7:99,115,211...99,123,229 		JBrowse link
G Krtap5-21 keratin associated protein 5-21 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:141,765,554...141,766,818
Ensembl chr 7:141,765,596...141,766,327 		JBrowse link
G Lamtor1 late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,555,044...101,561,110
Ensembl chr 7:101,555,111...101,575,882 		JBrowse link
G Lipt2 lipoyl(octanoyl) transferase 2 (putative) ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,808,484...99,810,138
Ensembl chr 7:99,808,484...99,810,572 		JBrowse link
G Mir139 microRNA 139 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,124,583...101,124,650
Ensembl chr 7:101,124,583...101,124,650 		JBrowse link
G Mir326 microRNA 326 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,201,476...99,201,570
Ensembl chr 7:99,201,476...99,201,570 		JBrowse link
G Mrpl48 mitochondrial ribosomal protein L48 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,194,986...100,257,508
Ensembl chr 7:100,194,958...100,257,508 		JBrowse link
G Nadsyn1 NAD synthetase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:143,349,326...143,376,598
Ensembl chr 7:143,349,321...143,376,586 		JBrowse link
G Neu3 neuraminidase 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,460,646...99,477,579
Ensembl chr 7:99,460,646...99,477,624 		JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,583,169...101,664,166
Ensembl chr 7:101,583,318...101,664,171 		JBrowse link
G Or2at4 olfactory receptor family 2 subfamily AT member 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,384,352...99,385,302
Ensembl chr 7:99,379,480...99,385,606 		JBrowse link
G P2ry2 purinergic receptor P2Y, G-protein coupled 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,645,775...100,661,260
Ensembl chr 7:100,645,775...100,662,073 		JBrowse link
G P2ry6 pyrimidinergic receptor P2Y, G-protein coupled, 6 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,586,837...100,628,528
Ensembl chr 7:100,586,837...100,623,856 		JBrowse link
G P4ha3 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,934,637...99,968,908
Ensembl chr 7:99,934,727...99,968,906 		JBrowse link
G Pde2a phosphodiesterase 2A, cGMP-stimulated ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,070,905...101,162,026
Ensembl chr 7:101,060,093...101,162,026
Ensembl chr 7:101,060,093...101,162,026 		JBrowse link
G Pgm2l1 phosphoglucomutase 2-like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,876,471...99,928,079
Ensembl chr 7:99,876,601...99,928,075 		JBrowse link
G Phox2a paired-like homeobox 2a ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,467,520...101,471,933
Ensembl chr 7:101,467,520...101,471,933 		JBrowse link
G Plekhb1 pleckstrin homology domain containing, family B (evectins) member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,291,922...100,311,601
Ensembl chr 7:100,292,099...100,311,621 		JBrowse link
G Pold3 polymerase (DNA-directed), delta 3, accessory subunit ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,731,317...99,770,709
Ensembl chr 7:99,731,318...99,770,772 		JBrowse link
G Ppme1 protein phosphatase methylesterase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,975,944...100,021,103
Ensembl chr 7:99,975,944...100,021,514 		JBrowse link
G Rab6a RAB6A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,256,778...100,290,475
Ensembl chr 7:100,256,617...100,290,475 		JBrowse link
G Relt RELT tumor necrosis factor receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,495,054...100,512,690
Ensembl chr 7:100,495,054...100,512,653 		JBrowse link
G Rnf121 ring finger protein 121 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,668,344...101,721,712
Ensembl chr 7:101,668,344...101,714,676 		JBrowse link
G Rnf169 ring finger protein 169 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,569,461...99,630,537
Ensembl chr 7:99,569,461...99,629,655 		JBrowse link
G Rps3 ribosomal protein S3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,127,103...99,132,916
Ensembl chr 7:99,127,103...99,132,945 		JBrowse link
G Serpinh1 serine (or cysteine) peptidase inhibitor, clade H, member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:98,994,583...99,002,321
Ensembl chr 7:98,994,583...99,002,446 		JBrowse link
G Slco2b1 solute carrier organic anion transporter family, member 2b1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,307,011...99,360,547
Ensembl chr 7:99,307,011...99,360,547 		JBrowse link
G Snord15a small nucleolar RNA, C/D box 15A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,131,992...99,132,139
Ensembl chr 7:99,131,992...99,132,139 		JBrowse link
G Spcs2 signal peptidase complex subunit 2 homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,486,775...99,512,576
Ensembl chr 7:99,486,776...99,512,669 		JBrowse link
G Stard10 StAR related lipid transfer domain containing 10 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,966,293...100,995,833
Ensembl chr 7:100,966,293...100,995,833 		JBrowse link
G Tomt transmembrane O-methyltransferase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:101,549,010...101,555,572
Ensembl chr 7:101,547,577...101,555,566 		JBrowse link
G Tpbgl trophoblast glycoprotein-like ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,273,274...99,276,310
Ensembl chr 7:99,273,289...99,276,310 		JBrowse link
G Ucp2 uncoupling protein 2 (mitochondrial, proton carrier) ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,142,565...100,148,832
Ensembl chr 7:100,142,544...100,151,227 		JBrowse link
G Ucp3 uncoupling protein 3 (mitochondrial, proton carrier) ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:100,122,198...100,135,639
Ensembl chr 7:100,122,197...100,135,639 		JBrowse link
G Xrra1 X-ray radiation resistance associated 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 7:99,508,425...99,567,031
Ensembl chr 7:99,508,323...99,567,029 		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 ClpB caseinolytic peptidase B ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia | ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia ClinVar PMID:9536098 PMID:17576681 PMID:25595726 PMID:25597511 PMID:25741868 More... NCBI chr 7:101,312,958...101,444,667
Ensembl chr 7:101,312,840...101,444,713 		JBrowse link
aniridia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 More... NCBI chr 2:105,797,053...105,833,894
Ensembl chr 2:105,797,054...105,833,894 		JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:8364574 PMID:10234503 PMID:10737978 PMID:11284764 PMID:11309364 More... NCBI chr 2:105,527,665...105,734,909
Ensembl chr 2:105,531,372...105,734,909 		JBrowse link
G Gm9342 predicted gene 9342 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 More... NCBI chr 2:105,833,679...106,236,532
Ensembl chr 2:105,868,563...106,234,411 		JBrowse link
G Immp1l IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 More... NCBI chr 2:105,735,013...105,795,904
Ensembl chr 2:105,734,983...105,795,903 		JBrowse link
G LOC106003270 enhancer region in intron 7 of Pax6 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:28492532 NCBI chr 2:105,516,998...105,522,385 JBrowse link
G LOC106007492 enhancer in intron 4 of Pax6 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:28492532 NCBI chr 2:105,512,072...105,513,198 JBrowse link
G LOC106014250 Pax6 upstream regulatory region ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:25741868 NCBI chr 2:105,490,598...105,506,398 JBrowse link
G LOC107983946 Wt1 promoter region ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:104,956,361...104,957,127 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Aniridia 1 | ClinVar Annotator: match by term: Cataracts, congenital, with late-onset corneal dystrophy OMIM
ClinVar		 PMID:1251879 PMID:1302030 PMID:1345175 PMID:1684738 PMID:1954207 More... NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Pax6drr Pax6 downstream regulatory region ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:18483559 PMID:24290376 PMID:28492532 NCBI chr 2:105,608,788...105,630,188 JBrowse link
G Rcn1 reticulocalbin 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 2:105,216,293...105,229,664
Ensembl chr 2:105,216,636...105,229,664 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961 		JBrowse link
Ayme-Gripp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Ayme-Gripp syndrome | ClinVar Annotator: match by term: Ayme-gripp syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8834052 PMID:8867660 PMID:12072800 PMID:17935251 PMID:25064449 More... NCBI chr 8:116,429,992...116,433,633
Ensembl chr 8:116,409,681...116,434,533 		JBrowse link
Baralle-Macken Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb1 coatomer protein complex, subunit beta 1 ISO ClinVar Annotator: match by term: Baralle-Macken syndrome OMIM
ClinVar		 PMID:25741868 PMID:33632302 NCBI chr 7:113,814,794...113,853,915
Ensembl chr 7:113,814,794...113,853,946 		JBrowse link
cataract 1 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Cataract 1 multiple types ClinVar PMID:17601931 PMID:23720739 PMID:23772370 PMID:28492532 NCBI chr 3:97,066,070...97,083,892
Ensembl chr 3:97,066,093...97,084,615 		JBrowse link
G Bcl9 B cell CLL/lymphoma 9 ISO ClinVar Annotator: match by term: Cataract 1 multiple types ClinVar PMID:17601931 PMID:23720739 PMID:23772370 PMID:28492532 NCBI chr 3:97,110,974...97,205,718
Ensembl chr 3:97,110,978...97,205,233 		JBrowse link
G Chd1l chromodomain helicase DNA binding protein 1-like ISO ClinVar Annotator: match by term: Cataract 1 multiple types ClinVar PMID:17601931 PMID:23720739 PMID:23772370 PMID:28492532 NCBI chr 3:97,468,056...97,517,538
Ensembl chr 3:97,468,058...97,517,519 		JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Zonular Pulverulent Cataract ClinVar NCBI chr14:57,271,917...57,295,487
Ensembl chr14:57,271,917...57,295,557 		JBrowse link
G Gja5 gap junction protein, alpha 5 ISO ClinVar Annotator: match by term: Cataract 1 multiple types ClinVar PMID:17601931 PMID:23720739 PMID:23772370 PMID:28492532 NCBI chr 3:96,939,718...96,960,950
Ensembl chr 3:96,812,009...96,984,732 		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: Cataract 1 multiple types | ClinVar Annotator: match by term: Zonular Pulverulent Cataract
CTD Direct Evidence: marker/mechanism
OMIM:116200
DNA:missense mutation:cds:p.L7Q(rat)		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:1975179 PMID:9497259 PMID:10362609 PMID:10480374 PMID:11846744 More... RGD:2293186 NCBI chr 3:96,820,882...96,833,367
Ensembl chr 3:96,820,882...96,833,336 		JBrowse link
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
IAGP
IMP		 ClinVar Annotator: match by term: Cataract 10 multiple types
CTD Direct Evidence: marker/mechanism
OMIM:600881
DNA:mutation:exon:170T>A(mouse)		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:9536098 PMID:9788845 PMID:11006214 PMID:14598164 PMID:14693780 More... RGD:734831 NCBI chr11:77,609,440...77,616,119
Ensembl chr11:77,609,441...77,616,109 		JBrowse link
cataract 11 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbf1 golgi-specific brefeldin A-resistance factor 1 ISO ClinVar Annotator: match by term: Cataract 11 multiple types | ClinVar Annotator: match by term: Cataract 11, posterior polar | ClinVar Annotator: match by term: Cataract, posterior polar, 4 | ClinVar Annotator: match by term: PITX3-related condition ClinVar PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:16565358 More... NCBI chr19:46,140,948...46,274,949
Ensembl chr19:46,140,948...46,274,949 		JBrowse link
G Pitx3 paired-like homeodomain transcription factor 3 ISO ClinVar Annotator: match by term: Cataract 11 multiple types | ClinVar Annotator: match by term: Cataract 11, posterior polar | ClinVar Annotator: match by term: Cataract, posterior polar, 4 | ClinVar Annotator: match by term: PITX3-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:16565358 More... NCBI chr19:46,123,720...46,136,764
Ensembl chr19:46,124,124...46,136,765 		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, phakinin ISO ClinVar Annotator: match by term: BFSP2-related condition | ClinVar Annotator: match by term: Cataract 12 multiple types
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10729115 PMID:12573667 PMID:14638724 PMID:21836522 PMID:25741868 More... NCBI chr 9:103,302,123...103,357,608
Ensembl chr 9:103,302,123...103,357,619 		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 Gcm2 glial cells missing homolog 2 ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr13:41,254,903...41,264,511
Ensembl chr13:41,254,903...41,264,511 		JBrowse link
G Gcnt2 glucosaminyl (N-acetyl) transferase 2 (I blood group) ISO ClinVar Annotator: match by term: ADULT i BLOOD GROUP PHENOTYPE | ClinVar Annotator: match by term: Adult i blood group with or without congenital cataract | ClinVar Annotator: match by term: Blood group, I system | ClinVar Annotator: match by term: Cataract 13 with adult I phenotype OMIM
ClinVar		 PMID:9536098 PMID:11739194 PMID:12424189 PMID:12468428 PMID:15161861 More... NCBI chr13:41,013,417...41,114,368
Ensembl chr13:41,013,230...41,114,368 		JBrowse link
G Mak male germ cell-associated kinase ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr13:41,178,483...41,233,182
Ensembl chr13:41,178,484...41,233,182 		JBrowse link
G Pak1ip1 PAK1 interacting protein 1 ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr13:41,154,486...41,166,509
Ensembl chr13:41,154,499...41,166,491 		JBrowse link
G Tfap2a transcription factor AP-2, alpha ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852 		JBrowse link
G Tmem14c transmembrane protein 14C ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr13:41,169,726...41,176,058
Ensembl chr13:41,169,768...41,176,062 		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: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr14:57,512,491...57,635,940
Ensembl chr14:57,512,450...57,635,986 		JBrowse link
G Eef1akmt1 EEF1A alpha lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr14:57,787,052...57,809,039
Ensembl chr14:57,787,054...57,809,069 		JBrowse link
G Gja3 gap junction protein, alpha 3 ISO
IAGP		 ClinVar Annotator: match by term: Cataract 14 multiple types | ClinVar Annotator: match by term: Zonular pulverulent cataract 3
CTD Direct Evidence: marker/mechanism
OMIM:601885		 OMIM
ClinVar
CTD
MouseDO		 PMID:10205266 PMID:10746562 PMID:14627959 PMID:15208569 PMID:15286166 More... NCBI chr14:57,271,917...57,295,487
Ensembl chr14:57,271,917...57,295,557 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159 		JBrowse link
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr14:57,360,760...57,370,764
Ensembl chr14:57,360,760...57,371,068 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr14:57,661,519...57,755,393
Ensembl chr14:57,661,519...57,755,393 		JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr14:57,762,197...57,780,623
Ensembl chr14:57,762,234...57,780,623 		JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr14:57,814,978...57,906,951
Ensembl chr14:57,814,978...57,902,887 		JBrowse link
cataract 15 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:126,911,154...126,929,039
Ensembl chr10:126,911,153...126,929,038 		JBrowse link
G Apof apolipoprotein F ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:128,104,568...128,107,119
Ensembl chr10:128,103,866...128,106,022 		JBrowse link
G Arhgap9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,157,829...127,165,816
Ensembl chr10:127,157,833...127,165,812 		JBrowse link
G Arhgef25 Rho guanine nucleotide exchange factor 25 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,018,390...127,025,952
Ensembl chr10:127,018,394...127,025,952 		JBrowse link
G Atp5f1b ATP synthase F1 subunit beta ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,919,176...127,926,257
Ensembl chr10:127,919,142...127,926,260 		JBrowse link
G B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,001,025...127,008,209
Ensembl chr10:127,001,094...127,008,199 		JBrowse link
G Baz2a bromodomain adjacent to zinc finger domain, 2A ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,927,453...127,965,172
Ensembl chr10:127,927,446...127,965,172 		JBrowse link
G Cdk4 cyclin dependent kinase 4 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:126,884,115...126,891,897
Ensembl chr10:126,884,119...126,888,875 		JBrowse link
G Dctn2 dynactin 2 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,102,131...127,117,828
Ensembl chr10:127,102,237...127,117,819 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,126,662...127,132,160
Ensembl chr10:127,126,643...127,132,157
Ensembl chr10:127,126,643...127,132,157 		JBrowse link
G Dtx3 deltex 3, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,026,242...127,032,367
Ensembl chr10:127,026,247...127,031,597 		JBrowse link
G Eef1akmt3 EEF1A lysine methyltransferase 3 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:126,868,654...126,877,883
Ensembl chr10:126,866,873...126,877,382 		JBrowse link
G Gli1 GLI-Kruppel family member GLI1 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,165,751...127,177,448
Ensembl chr10:127,165,751...127,177,843 		JBrowse link
G Gls2 glutaminase 2 (liver, mitochondrial) ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:128,030,504...128,045,873
Ensembl chr10:128,030,326...128,045,873 		JBrowse link
G Gpr182 G protein-coupled receptor 182 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,585,471...127,587,667
Ensembl chr10:127,583,145...127,587,601 		JBrowse link
G Hsd17b6 hydroxysteroid (17-beta) dehydrogenase 6 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,826,800...127,843,517
Ensembl chr10:127,826,805...127,843,480 		JBrowse link
G Il23a interleukin 23, alpha subunit p19 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:128,132,009...128,133,953
Ensembl chr10:128,132,008...128,134,621 		JBrowse link
G Inhbc inhibin beta-C ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,192,191...127,206,417
Ensembl chr10:127,192,191...127,206,300 		JBrowse link
G Inhbe inhibin beta-E ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,185,271...127,187,717
Ensembl chr10:127,184,726...127,190,280 		JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,061,564...127,102,217
Ensembl chr10:127,061,565...127,099,217 		JBrowse link
G Lrp1 low density lipoprotein receptor-related protein 1 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,374,026...127,457,158
Ensembl chr10:127,374,030...127,457,017 		JBrowse link
G Marchf9 membrane associated ring-CH-type finger 9 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:126,891,919...126,896,053
Ensembl chr10:126,890,880...126,896,053 		JBrowse link
G Mars1 methionine-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,132,090...127,147,655
Ensembl chr10:127,132,090...127,147,655 		JBrowse link
G Mbd6 methyl-CpG binding domain protein 6 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,117,825...127,126,738
Ensembl chr10:127,117,825...127,124,887 		JBrowse link
G Mettl1 methyltransferase 1, tRNA methylguanosine ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:126,877,287...126,882,234
Ensembl chr10:126,877,283...126,882,234 		JBrowse link
G Mip major intrinsic protein of lens fiber ISO
IAGP		 ClinVar Annotator: match by term: Cataract 15 multiple types | ClinVar Annotator: match by term: MIP-related condition
OMIM:615274		 OMIM
ClinVar
MouseDO		 PMID:3456204 PMID:9536098 PMID:10802646 PMID:10937580 PMID:16199547 More... NCBI chr10:128,061,679...128,067,681
Ensembl chr10:128,061,707...128,067,681 		JBrowse link
G Myo1a myosin IA ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,539,306...127,556,809
Ensembl chr10:127,541,039...127,556,809 		JBrowse link
G Nab2 Ngfi-A binding protein 2 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,496,787...127,502,572
Ensembl chr10:127,496,787...127,504,437 		JBrowse link
G Naca nascent polypeptide-associated complex alpha polypeptide ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,869,144...127,884,506
Ensembl chr10:127,871,444...127,884,506 		JBrowse link
G Ndufa4l2 Ndufa4, mitochondrial complex associated like 2 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,345,143...127,353,023
Ensembl chr10:127,350,836...127,353,023 		JBrowse link
G Nemp1 nuclear envelope integral membrane protein 1 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,512,934...127,536,918
Ensembl chr10:127,502,770...127,536,918 		JBrowse link
G Nxph4 neurexophilin 4 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,361,342...127,370,428
Ensembl chr10:127,361,342...127,370,428 		JBrowse link
G Os9 amplified in osteosarcoma ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:126,928,880...126,957,029
Ensembl chr10:126,931,519...126,957,000 		JBrowse link
G Pan2 PAN2 poly(A) specific ribonuclease subunit ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:128,135,106...128,157,227
Ensembl chr10:128,139,204...128,157,227 		JBrowse link
G Pip4k2c phosphatidylinositol-5-phosphate 4-kinase, type II, gamma ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,032,936...127,047,508
Ensembl chr10:127,032,936...127,047,454 		JBrowse link
G Prim1 DNA primase, p49 subunit ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,851,084...127,865,899
Ensembl chr10:127,851,041...127,865,906 		JBrowse link
G Ptges3 prostaglandin E synthase 3 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,894,851...127,913,123
Ensembl chr10:127,894,823...127,913,141 		JBrowse link
G R3hdm2 R3H domain containing 2 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,216,201...127,335,253
Ensembl chr10:127,216,196...127,335,253 		JBrowse link
G Rbms2 RNA binding motif, single stranded interacting protein 2 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,965,339...128,016,166
Ensembl chr10:127,967,427...128,016,166 		JBrowse link
G Rdh16 retinol dehydrogenase 16 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,636,959...127,651,715
Ensembl chr10:127,637,021...127,682,434 		JBrowse link
G Sdr9c7 4short chain dehydrogenase/reductase family 9C, member 7 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,734,404...127,747,630
Ensembl chr10:127,734,387...127,747,630 		JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,352,992...127,358,313
Ensembl chr10:127,352,992...127,358,313 		JBrowse link
G Spryd4 SPRY domain containing 4 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:128,045,777...128,047,663
Ensembl chr10:128,045,777...128,047,676 		JBrowse link
G Stac3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,337,505...127,344,692
Ensembl chr10:127,337,555...127,344,692 		JBrowse link
G Stat2 signal transducer and activator of transcription 2 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:128,106,367...128,128,722
Ensembl chr10:128,106,428...128,128,718 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,478,855...127,496,856
Ensembl chr10:127,478,855...127,496,826 		JBrowse link
G Tac2 tachykinin 2 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,560,347...127,567,637
Ensembl chr10:127,560,347...127,567,637 		JBrowse link
G Timeless timeless circadian clock 1 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:128,067,932...128,088,810
Ensembl chr10:128,067,934...128,088,810 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:126,858,201...126,866,683
Ensembl chr10:126,847,441...126,866,709 		JBrowse link
G Tspan31 tetraspanin 31 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:126,903,156...126,906,977
Ensembl chr10:126,903,149...126,906,133 		JBrowse link
G Zbtb39 zinc finger and BTB domain containing 39 ISO ClinVar Annotator: match by term: Cataract 15 multiple types ClinVar PMID:28492532 NCBI chr10:127,575,399...127,583,218
Ensembl chr10:127,575,407...127,583,218 		JBrowse link
cataract 16 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen, type XII, alpha 1 ISO ClinVar Annotator: match by term: Cataract 16 multiple types ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:79,506,269...79,628,423
Ensembl chr 9:79,506,273...79,626,113 		JBrowse link
G Cryab crystallin, alpha B ISO
IAGP		 ClinVar Annotator: match by term: CATARACT, CONGENITAL LAMELLAR | ClinVar Annotator: match by term: Cataract 16 multiple types
OMIM:613763		 OMIM
ClinVar
MouseDO		 PMID:1560021 PMID:2299599 PMID:11013455 PMID:11577372 PMID:16483541 More... NCBI chr 9:50,657,251...50,667,936
Ensembl chr 9:50,662,625...50,667,936 		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 17 multiple types ClinVar PMID:9536098 PMID:12360425 PMID:16110300 PMID:17460281 PMID:17576681 More... NCBI chr 5:112,394,358...112,411,411
Ensembl chr 5:112,394,359...112,400,384 		JBrowse link
G Crybb1 crystallin, beta B1 ISO ClinVar Annotator: match by term: Cataract 17 multiple types
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12360425 PMID:16110300 PMID:17460281 PMID:17576681 More... NCBI chr 5:112,403,686...112,417,451
Ensembl chr 5:112,403,681...112,417,451 		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 containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CATARACT 18, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cataract 18 | ClinVar Annotator: match by term: FYCO1-related condition		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11519376 PMID:17576681 PMID:21636066 PMID:25741868 More... NCBI chr 9:123,618,565...123,681,110
Ensembl chr 9:123,618,565...123,680,964 		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
IAGP		 ClinVar Annotator: match by term: Cataract 19 multiple types
OMIM:615277		 OMIM
ClinVar
MouseDO		 PMID:11917274 PMID:18596884 PMID:21386927 PMID:25741868 PMID:28492532 More... NCBI chr 7:43,079,523...43,085,420
Ensembl chr 7:43,079,512...43,085,420 		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
IAGP		 ClinVar Annotator: match by term: CRYGC-related condition | ClinVar Annotator: match by term: Cataract 2, multiple types | ClinVar Annotator: match by term: Cataract, Coppock-like | ClinVar Annotator: match by term: Nuclear pulverulent cataract
CTD Direct Evidence: marker/mechanism
OMIM:604307		 OMIM
ClinVar
CTD
MouseDO		 PMID:8004095 PMID:8190472 PMID:10521291 PMID:10914683 PMID:12011157 More... NCBI chr 1:65,110,684...65,112,691
Ensembl chr 1:65,110,684...65,112,848 		JBrowse link
G Crygd crystallin, gamma D IAGP OMIM:604307 MouseDO NCBI chr 1:65,101,001...65,102,598
Ensembl chr 1:65,101,031...65,102,611 		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
IAGP		 ClinVar Annotator: match by term: Cataract 20 multiple types
OMIM:116100		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16141006 PMID:17576681 PMID:18587492 PMID:19262743 More... NCBI chr16:22,623,953...22,630,160
Ensembl chr16:22,623,953...22,630,327 		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 chr 8:117,231,754...117,242,654
Ensembl chr 8:117,231,713...117,242,654 		JBrowse link
G Maf MAF bZIP transcription factor ISO
IAGP		 ClinVar Annotator: match by term: CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 21 multiple types | ClinVar Annotator: match by term: Cataract, congenital, cerulean type, 4
CTD Direct Evidence: marker/mechanism
OMIM:610202		 OMIM
ClinVar
CTD
MouseDO		 PMID:11772997 PMID:12620964 PMID:16470690 PMID:17982426 PMID:22345400 More... NCBI chr 8:116,429,992...116,433,633
Ensembl chr 8:116,409,681...116,434,533 		JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Cataract 21 multiple types ClinVar PMID:28492532 NCBI chr 8:115,166,377...116,079,451
Ensembl chr 8:115,166,395...116,079,447 		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 22 multiple types | ClinVar Annotator: match by term: Cataract, congenital nuclear, autosomal recessive 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15914629 PMID:19182255 PMID:23508780 PMID:24940039 PMID:25640679 More... NCBI chr 5:113,223,705...113,230,102
Ensembl chr 5:113,223,705...113,229,450 		JBrowse link
cataract 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asphd2 aspartate beta-hydroxylase domain containing 2 ISO ClinVar Annotator: match by term: Cataract 23 ClinVar PMID:28492532 NCBI chr 5:112,532,220...112,543,236
Ensembl chr 5:112,532,220...112,542,732 		JBrowse link
G Cryba4 crystallin, beta A4 ISO ClinVar Annotator: match by term: Cataract 23 | ClinVar Annotator: match by term: Cataract 23, multiple types OMIM
ClinVar		 PMID:15452067 PMID:16199547 PMID:16960806 PMID:20577656 PMID:24968223 More... NCBI chr 5:112,394,358...112,411,411
Ensembl chr 5:112,394,359...112,400,384 		JBrowse link
G Crybb1 crystallin, beta B1 ISO ClinVar Annotator: match by term: Cataract 23 ClinVar PMID:28492532 NCBI chr 5:112,403,686...112,417,451
Ensembl chr 5:112,403,681...112,417,451 		JBrowse link
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 ISO ClinVar Annotator: match by term: Cataract 23 ClinVar PMID:28492532 NCBI chr 5:112,490,849...112,526,290
Ensembl chr 5:112,490,949...112,526,280 		JBrowse link
G Myo18b myosin XVIIIb ISO ClinVar Annotator: match by term: Cataract 23 ClinVar PMID:28492532 NCBI chr 5:112,836,742...113,044,311
Ensembl chr 5:112,836,742...113,044,228 		JBrowse link
G Sez6l seizure related 6 homolog like ISO ClinVar Annotator: match by term: Cataract 23 ClinVar PMID:28492532 NCBI chr 5:112,567,020...112,726,401
Ensembl chr 5:112,567,017...112,725,051 		JBrowse link
G Srrd SRR1 domain containing ISO ClinVar Annotator: match by term: Cataract 23 ClinVar PMID:28492532 NCBI chr 5:112,485,257...112,490,921
Ensembl chr 5:112,485,258...112,490,906 		JBrowse link
G Tfip11 tuftelin interacting protein 11 ISO ClinVar Annotator: match by term: Cataract 23 ClinVar PMID:28492532 NCBI chr 5:112,474,235...112,485,939
Ensembl chr 5:112,474,224...112,485,939 		JBrowse link
G Tpst2 protein-tyrosine sulfotransferase 2 ISO ClinVar Annotator: match by term: Cataract 23 ClinVar PMID:28492532 NCBI chr 5:112,424,548...112,463,222
Ensembl chr 5:112,424,557...112,463,227 		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 3:96,820,882...96,833,367
Ensembl chr 3:96,820,882...96,833,336 		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 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		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
IAGP		 ClinVar Annotator: match by term: CATARACT 3, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 3 multiple types
OMIM:601547		 OMIM
ClinVar
MouseDO		 PMID:2240043 PMID:8812489 PMID:9158139 PMID:9536098 PMID:10634616 More... NCBI chr 5:113,206,124...113,217,983
Ensembl chr 5:113,206,124...113,217,983 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Cataract 3 multiple types ClinVar PMID:25741868 NCBI chr 2:101,468,597...101,479,877
Ensembl chr 2:101,468,627...101,479,846 		JBrowse link
cataract 30 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, Coppock-like ClinVar PMID:24281366 PMID:26694549 NCBI chr 1:65,110,684...65,112,691
Ensembl chr 1:65,110,684...65,112,848 		JBrowse link
G Vim vimentin ISO
IAGP		 OMIM:116300
ClinVar Annotator: match by term: CATARACT 30, PULVERULENT | ClinVar Annotator: match by term: Cataract 30
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:19126778 PMID:25741868 PMID:26694549 PMID:28450710 PMID:28492532 NCBI chr 2:13,579,122...13,587,637
Ensembl chr 2:13,578,738...13,587,637 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10682967 PMID:17701905 PMID:25741868 PMID:28492532 NCBI chr 2:154,498,949...154,536,703
Ensembl chr 2:154,493,625...154,536,705 		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, in lens-CP94 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract 33		 OMIM
CTD
ClinVar		 PMID:12454043 PMID:14638724 PMID:17225135 PMID:24281366 PMID:24379646 More... NCBI chr 2:143,668,448...143,757,320
Ensembl chr 2:143,668,448...143,705,093 		JBrowse link
G Esr1 estrogen receptor 1 (alpha) IMP RGD PMID:12082175 RGD:734947 NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614 		JBrowse link
G Pcsk2 proprotein convertase subtilisin/kexin type 2 ISO ClinVar Annotator: match by term: Cataract 33 ClinVar PMID:28492532 NCBI chr 2:143,388,053...143,658,204
Ensembl chr 2:143,388,076...143,658,205 		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 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CATARACT 34, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 34 multiple types		 CTD
OMIM
ClinVar		 PMID:17893665 PMID:19708017 PMID:20140963 PMID:24033266 PMID:25741868 More... NCBI chr 4:114,781,640...114,783,264
Ensembl chr 4:114,782,344...114,783,210 		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 36 | ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 4 OMIM
ClinVar		 PMID:25741868 PMID:28418495 PMID:28492532 NCBI chr 4:45,965,335...46,034,766
Ensembl chr 4:45,965,334...46,034,761 		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: AGK-related disorder | ClinVar Annotator: match by term: Cataract 38 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22277967 PMID:22415731 PMID:24088041 More... NCBI chr 6:40,302,010...40,378,723
Ensembl chr 6:40,302,106...40,373,696 		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
IAGP		 ClinVar Annotator: match by term: Cataract 39 multiple types
OMIM:615188		 OMIM
ClinVar
MouseDO		 PMID:23288985 PMID:25741868 PMID:28492532 NCBI chr 1:65,119,381...65,121,449
Ensembl chr 1:65,119,378...65,121,447 		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
IAGP		 ClinVar Annotator: match by term: Cataract 4 | ClinVar Annotator: match by term: Cataract 4 multiple types
OMIM:115700		 OMIM
ClinVar
MouseDO		 PMID:9927684 PMID:10521291 PMID:10688888 PMID:10915766 PMID:11371638 More... NCBI chr 1:65,101,001...65,102,598
Ensembl chr 1:65,101,031...65,102,611 		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 | ClinVar Annotator: match by term: Cataract 40, X-linked
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:14564667 PMID:16736028 PMID:18949062 PMID:19414485 PMID:23757202 More... NCBI chr  X:160,616,286...160,942,437
Ensembl chr  X:160,616,292...160,942,726 		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 OMIM
ClinVar		 PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 More... NCBI chr 5:37,123,448...37,146,326
Ensembl chr 5:37,123,448...37,146,549 		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 ClinVar Annotator: match by term: CRYBA2-related condition OMIM
ClinVar		 PMID:25741868 NCBI chr 1:74,929,093...74,938,001
Ensembl chr 1:74,929,093...74,932,302 		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 OMIM
ClinVar		 PMID:24549050 PMID:25741868 NCBI chr11:82,802,112...82,834,284
Ensembl chr11:82,801,376...82,834,229 		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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr10:76,367,303...76,392,973
Ensembl chr10:76,367,422...76,392,972 		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 OMIM
ClinVar		 PMID:25741868 PMID:25804400 PMID:28492532 NCBI chr 7:29,016,687...29,218,694
Ensembl chr 7:29,019,797...29,218,066 		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 containing 2 ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset OMIM
ClinVar		 PMID:4061486 PMID:23806086 PMID:23863954 PMID:24088041 PMID:25741868 More... NCBI chr17:27,408,574...27,426,228
Ensembl chr17:27,408,574...27,423,443 		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 (monocarboxylic acid transporters), member 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CATARACT, JUVENILE, WITH MICROCORNEA | ClinVar Annotator: match by term: Cataract, juvenile, with microcornea and glucosuria		 OMIM
CTD
ClinVar		 PMID:17458810 PMID:18304496 PMID:21778275 PMID:24281366 PMID:25741868 More... NCBI chr19:34,645,801...34,725,223
Ensembl chr19:34,645,803...34,724,689 		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 chr19:43,835,259...43,930,930
Ensembl chr19:43,835,260...43,928,630 		JBrowse link
Cataract 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Cataract 49 OMIM
ClinVar		 PMID:25741868 PMID:30585370 NCBI chr 4:155,048,580...155,065,395
Ensembl chr 4:155,048,580...155,065,395 		JBrowse link
cataract 5 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3gnt9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 8:105,979,270...105,981,895
Ensembl chr 8:105,979,270...105,981,785 		JBrowse link
G Bean1 brain expressed, associated with Nedd4, 1 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 8:104,897,110...104,945,730
Ensembl chr 8:104,897,074...104,945,754 		JBrowse link
G Car7 carbonic anhydrase 7 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 8:105,261,326...105,276,979
Ensembl chr 8:105,261,321...105,276,975 		JBrowse link
G Cbfb core binding factor beta ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 8:105,897,306...105,944,621
Ensembl chr 8:105,897,306...105,944,621 		JBrowse link
G Cdh16 cadherin 16 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 8:105,328,547...105,351,028
Ensembl chr 8:105,328,543...105,351,028 		JBrowse link
G Cdh5 cadherin 5 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 8:104,828,247...104,871,136
Ensembl chr 8:104,828,257...104,871,143 		JBrowse link
G Ces2h carboxylesterase 2H ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 8:105,727,462...105,747,042
Ensembl chr 8:105,727,485...105,747,810 		JBrowse link
G Ces3b carboxylesterase 3B ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 8:105,810,365...105,820,561
Ensembl chr 8:105,810,385...105,820,561 		JBrowse link
G Ces4a carboxylesterase 4A ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 8:105,858,432...105,876,741
Ensembl chr 8:105,858,432...105,876,741 		JBrowse link
G Ciao2b cytosolic iron-sulfur assembly component 2B ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 8:105,366,471...105,368,360
Ensembl chr 8:105,366,470...105,368,597 		JBrowse link
G Cklf chemokine-like factor ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 8:104,977,493...104,992,642
Ensembl chr 8:104,977,493...104,991,570 		JBrowse link
G Cmtm1 CKLF-like MARVEL transmembrane domain containing 1 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 8:105,020,174...105,036,777
Ensembl chr 8:105,007,979...105,036,713
Ensembl chr 8:105,007,979...105,036,713 		JBrowse link
G Cmtm2b CKLF-like MARVEL transmembrane domain containing 2B ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 8:105,048,838...105,057,396
Ensembl chr 8:105,048,862...105,057,396 		JBrowse link
G Cmtm3 CKLF-like MARVEL transmembrane domain containing 3 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 8:105,065,993...105,074,304
Ensembl chr 8:105,066,042...105,074,304 		JBrowse link
G Cmtm4 CKLF-like MARVEL transmembrane domain containing 4 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 8:105,074,823...105,122,439
Ensembl chr 8:105,074,823...105,122,439 		JBrowse link
G Dync1li2 dynein, cytoplasmic 1 light intermediate chain 2 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 8:105,144,306...105,170,415
Ensembl chr 8:105,144,312...105,169,679 		JBrowse link
G Fbxl8 F-box and leucine-rich repeat protein 8 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:25741868 PMID:28492532 NCBI chr 8:105,991,280...105,995,958
Ensembl chr 8:105,991,280...105,995,958 		JBrowse link
G Hsf4 heat shock transcription factor 4 ISO
IAGP		 ClinVar Annotator: match by term: CATARACT, MARNER TYPE | ClinVar Annotator: match by term: Cataract 5 multiple types | ClinVar Annotator: match by term: Lamellar cataract
CTD Direct Evidence: marker/mechanism
OMIM:116800		 OMIM
ClinVar
CTD
MouseDO		 PMID:3233780 PMID:9536098 PMID:12089525 PMID:15959809 PMID:16199547 More... NCBI chr 8:105,996,392...106,002,477
Ensembl chr 8:105,996,433...106,002,477 		JBrowse link
G Nae1 NEDD8 activating enzyme E1 subunit 1 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 8:105,237,660...105,261,269
Ensembl chr 8:105,237,660...105,261,269 		JBrowse link
G Nol3 nucleolar protein 3 (apoptosis repressor with CARD domain) ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 8:106,002,777...106,008,571
Ensembl chr 8:106,002,772...106,008,571 		JBrowse link
G Pdp2 pyruvate dehydrogenase phosphatase catalytic subunit 2 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 8:105,318,104...105,325,658
Ensembl chr 8:105,318,083...105,325,658 		JBrowse link
G Phaf1 phagosome assembly factor 1 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 8:105,951,779...105,979,685
Ensembl chr 8:105,951,777...105,979,685 		JBrowse link
G Rrad Ras-related associated with diabetes ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 8:105,354,702...105,357,921
Ensembl chr 8:105,354,702...105,357,959 		JBrowse link
G Terb1 telomere repeat binding bouquet formation protein 1 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 8:105,173,350...105,236,692
Ensembl chr 8:105,173,351...105,236,542 		JBrowse link
G Tk2 thymidine kinase 2, mitochondrial ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 8:104,953,323...104,975,224
Ensembl chr 8:104,953,317...104,975,190 		JBrowse link
G Tradd TNFRSF1A-associated via death domain ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr 8:105,985,207...105,991,226
Ensembl chr 8:105,984,918...105,991,241 		JBrowse link
Cataract 50 with or without Glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 ISO ClinVar Annotator: match by term: Cataract 50 with or without glaucoma OMIM
ClinVar		 PMID:25090642 PMID:25741868 NCBI chr19:22,114,789...22,972,774
Ensembl chr19:22,116,410...22,972,774 		JBrowse link
cataract 6 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef19 Rho guanine nucleotide exchange factor 19 ISO ClinVar Annotator: match by term: Cataract 6 multiple types ClinVar PMID:19649315 PMID:22167091 PMID:25148791 PMID:28492532 NCBI chr 4:140,966,916...140,985,226
Ensembl chr 4:140,966,810...140,984,875 		JBrowse link
G Epha2 Eph receptor A2 ISO
IAGP		 ClinVar Annotator: match by term: Age-related cortical cataract | ClinVar Annotator: match by term: CATARACT, AGE-RELATED CORTICAL, 2 | ClinVar Annotator: match by term: Cataract 6 multiple types | ClinVar Annotator: match by term: Cataract, posterior polar, 1
OMIM:116600		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:12167657 PMID:15965161 PMID:16051609 PMID:16199547 More... NCBI chr 4:141,028,532...141,056,695
Ensembl chr 4:141,028,551...141,056,695 		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 chr 5:113,206,124...113,217,983
Ensembl chr 5:113,206,124...113,217,983 		JBrowse link
G Crygd crystallin, gamma D susceptibility ISO DNA:transversion:exon:p.P23T (human) RGD PMID:12676897 RGD:1601016 NCBI chr 1:65,101,001...65,102,598
Ensembl chr 1:65,101,031...65,102,611 		JBrowse link
cataract 9 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2610028H24Rik RIKEN cDNA 2610028H24 gene ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:76,284,883...76,297,052
Ensembl chr10:76,284,915...76,296,944 		JBrowse link
G Abcg1 ATP binding cassette subfamily G member 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr17:31,276,668...31,336,958
Ensembl chr17:31,276,649...31,336,962 		JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:77,126,561...77,254,125
Ensembl chr10:77,126,560...77,254,104 		JBrowse link
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:78,105,008...78,188,335
Ensembl chr10:78,105,012...78,188,323 		JBrowse link
G Aire autoimmune regulator ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:77,865,856...77,879,444
Ensembl chr10:77,865,856...77,879,444 		JBrowse link
G C2cd2 C2 calcium-dependent domain containing 2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr16:97,656,409...97,727,248
Ensembl chr16:97,656,409...97,763,798 		JBrowse link
G Cbs cystathionine beta-synthase ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr17:31,831,602...31,856,170
Ensembl chr17:31,827,868...31,856,212 		JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:77,814,364...77,821,272
Ensembl chr10:77,814,358...77,822,739 		JBrowse link
G Col18a1 collagen, type XVIII, alpha 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382 		JBrowse link
G Col6a1 collagen, type VI, alpha 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:76,544,626...76,561,869
Ensembl chr10:76,544,626...76,562,002 		JBrowse link
G Col6a2 collagen, type VI, alpha 2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:76,431,590...76,459,464
Ensembl chr10:76,431,596...76,459,464 		JBrowse link
G Cryaa crystallin, alpha A ISO
IAGP		 ClinVar Annotator: match by term: CATARACT 9, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 9 multiple types | ClinVar Annotator: match by term: Cataract 9, autosomal recessive | ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 1
CTD Direct Evidence: marker/mechanism
OMIM:604219		 OMIM
ClinVar
CTD
MouseDO		 PMID:9467006 PMID:10684623 PMID:11006246 PMID:11123904 PMID:12601044 More... NCBI chr17:31,896,905...31,900,704
Ensembl chr17:31,896,781...31,900,707 		JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:78,261,504...78,263,456
Ensembl chr10:78,261,503...78,263,456 		JBrowse link
G Dnmt3l DNA methyltransferase 3-like ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:77,878,121...77,899,456
Ensembl chr10:77,877,781...77,899,456 		JBrowse link
G Ftcd formiminotransferase cyclodeaminase ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:76,411,482...76,426,172
Ensembl chr10:76,411,482...76,426,172 		JBrowse link
G Gatd3a glutamine amidotransferase like class 1 domain containing 3A ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:77,997,900...78,005,589
Ensembl chr10:77,997,900...78,005,616 		JBrowse link
G Hsf2bp heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr17:32,163,743...32,253,869
Ensembl chr17:32,163,743...32,255,323 		JBrowse link
G Icosl icos ligand ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:77,904,921...77,915,359
Ensembl chr10:77,905,136...77,919,747 		JBrowse link
G Itgb2 integrin beta 2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542 		JBrowse link
G Krtap10-10 keratin associated protein 10-10 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:77,671,781...77,673,085
Ensembl chr10:77,671,781...77,673,086 		JBrowse link
G Krtap10-22 keratin associated protein 10-22 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:77,606,467...77,607,159
Ensembl chr10:77,606,467...77,607,159 		JBrowse link
G Krtap10-23 keratin associated protein 10-23 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:77,617,567...77,618,449
Ensembl chr10:77,617,684...77,618,376 		JBrowse link
G Krtap10-33 keratin associated protein 10-33 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:77,525,791...77,526,644
Ensembl chr10:77,525,791...77,526,591 		JBrowse link
G Krtap10-34 keratin associated protein 10-34 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:77,634,221...77,635,025
Ensembl chr10:77,634,221...77,634,967 		JBrowse link
G Krtap12-1 keratin associated protein 12-1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:77,556,420...77,557,090
Ensembl chr10:77,556,433...77,557,088 		JBrowse link
G Krtap12-22 keratin associated protein 12-22 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:77,547,280...77,547,843
Ensembl chr10:77,547,291...77,547,843 		JBrowse link
G Krtap12-23 keratin associated protein 12-23 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:77,542,423...77,542,820
Ensembl chr10:77,542,460...77,542,809 		JBrowse link
G Lrrc3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:77,733,409...77,738,370
Ensembl chr10:77,733,409...77,738,370 		JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:76,367,303...76,392,973
Ensembl chr10:76,367,422...76,392,972 		JBrowse link
G Mcm3ap minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:76,304,736...76,351,693
Ensembl chr10:76,304,761...76,351,691 		JBrowse link
G Ndufv3 NADH:ubiquinone oxidoreductase core subunit V3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr17:31,739,089...31,750,300
Ensembl chr17:31,739,089...31,750,305 		JBrowse link
G Pcbp3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:76,597,688...76,797,951
Ensembl chr10:76,597,691...76,797,721 		JBrowse link
G Pcnt pericentrin (kendrin) ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:76,187,098...76,279,988
Ensembl chr10:76,187,097...76,278,620 		JBrowse link
G Pde9a phosphodiesterase 9A ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr17:31,605,079...31,695,284
Ensembl chr17:31,605,184...31,695,284 		JBrowse link
G Pfkl phosphofructokinase, liver, B-type ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:77,822,781...77,845,641
Ensembl chr10:77,822,781...77,845,917 		JBrowse link
G Pitx3 paired-like homeodomain transcription factor 3 ISO DNA:missense mutation, insertion:cds:p.S13N, G219fsX226 (human) RGD PMID:9620774 RGD:737764 NCBI chr19:46,123,720...46,136,764
Ensembl chr19:46,124,124...46,136,765 		JBrowse link
G Pknox1 Pbx/knotted 1 homeobox ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr17:31,783,697...31,826,665
Ensembl chr17:31,783,708...31,826,667 		JBrowse link
G Pofut2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:77,095,056...77,105,420
Ensembl chr10:77,095,052...77,105,409 		JBrowse link
G Prdm15 PR domain containing 15 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr16:97,592,720...97,653,076
Ensembl chr16:97,592,667...97,653,050 		JBrowse link
G Pttg1ip pituitary tumor-transforming 1 interacting protein ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:77,417,489...77,434,566
Ensembl chr10:77,417,554...77,434,566 		JBrowse link
G Pwp2 PWP2 periodic tryptophan protein homolog (yeast) ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:78,006,743...78,021,005
Ensembl chr10:78,006,743...78,020,983 		JBrowse link
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr16:97,543,133...97,564,979
Ensembl chr16:97,543,133...97,564,987 		JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:78,236,196...78,248,877
Ensembl chr10:78,236,218...78,248,877 		JBrowse link
G Rrp1b ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr17:32,255,087...32,281,839
Ensembl chr17:32,255,074...32,281,839 		JBrowse link
G Rsph1 radial spoke head 1 homolog (Chlamydomonas) ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr17:31,473,993...31,496,270
Ensembl chr17:31,473,993...31,496,357 		JBrowse link
G Sik1 salt inducible kinase 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr17:32,063,222...32,074,808
Ensembl chr17:32,063,224...32,074,778 		JBrowse link
G Slc19a1 solute carrier family 19 (folate transporter), member 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:76,868,103...76,886,266
Ensembl chr10:76,868,075...76,896,836 		JBrowse link
G Slc37a1 solute carrier family 37 (glycerol-3-phosphate transporter), member 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr17:31,495,722...31,569,683
Ensembl chr17:31,505,766...31,569,713 		JBrowse link
G Slx9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:77,322,489...77,352,758
Ensembl chr10:77,322,495...77,351,619 		JBrowse link
G Spatc1l spermatogenesis and centriole associated 1 like ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:76,394,180...76,406,035
Ensembl chr10:76,398,106...76,406,035 		JBrowse link
G Sumo3 small ubiquitin-like modifier 3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:77,441,931...77,454,165
Ensembl chr10:77,441,931...77,454,165 		JBrowse link
G Tff1 trefoil factor 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr17:31,380,369...31,384,034
Ensembl chr17:31,380,369...31,384,251 		JBrowse link
G Tff2 trefoil factor 2 (spasmolytic protein 1) ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr17:31,360,036...31,363,256
Ensembl chr17:31,360,023...31,363,256 		JBrowse link
G Tff3 trefoil factor 3, intestinal ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr17:31,344,280...31,348,585
Ensembl chr17:31,344,280...31,348,620 		JBrowse link
G Tmprss3 transmembrane protease, serine 3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr17:31,398,237...31,419,478
Ensembl chr17:31,398,239...31,417,951 		JBrowse link
G Trappc10 trafficking protein particle complex 10 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:78,021,256...78,080,479
Ensembl chr10:78,022,559...78,080,475 		JBrowse link
G Trpm2 transient receptor potential cation channel, subfamily M, member 2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:77,743,556...77,805,746
Ensembl chr10:77,743,556...77,806,397 		JBrowse link
G Tspear thrombospondin type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:77,521,942...77,722,844
Ensembl chr10:77,522,403...77,722,855 		JBrowse link
G U2af1 U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr17:31,866,055...31,878,122
Ensembl chr17:31,866,055...31,877,866 		JBrowse link
G Ubash3a ubiquitin associated and SH3 domain containing, A ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr17:31,426,842...31,478,655
Ensembl chr17:31,426,847...31,465,866 		JBrowse link
G Ube2g2 ubiquitin-conjugating enzyme E2G 2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:77,458,155...77,481,824
Ensembl chr10:77,458,109...77,481,827 		JBrowse link
G Umodl1 uromodulin-like 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr17:31,173,614...31,229,684
Ensembl chr17:31,173,614...31,229,684 		JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr17:31,713,296...31,738,946
Ensembl chr17:31,713,296...31,738,954 		JBrowse link
G Ybey ybeY metallopeptidase ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr10:76,295,401...76,304,948
Ensembl chr10:76,295,401...76,304,948 		JBrowse link
G Zbtb21 zinc finger and BTB domain containing 21 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr16:97,746,993...97,763,850
Ensembl chr16:97,744,557...97,763,822 		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:1975179 PMID:11846744 PMID:14627691 PMID:16604058 PMID:18334946 More... NCBI chr 3:96,820,882...96,833,367
Ensembl chr 3:96,820,882...96,833,336 		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 chr 8:116,429,992...116,433,633
Ensembl chr 8:116,409,681...116,434,533 		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 chr11:77,609,440...77,616,119
Ensembl chr11:77,609,441...77,616,109 		JBrowse link
G Gja3 gap junction protein, alpha 3 ISO DNA:missense mutation:cds:p.N188T (human) RGD PMID:15448617 RGD:1578473 NCBI chr14:57,271,917...57,295,487
Ensembl chr14:57,271,917...57,295,557 		JBrowse link
Cataract, Autosomal Recessive Congenital 1 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 recessive congenital 1 ClinVar PMID:9467006 PMID:10684623 PMID:11123904 PMID:16564818 PMID:16735993 More... NCBI chr17:31,896,905...31,900,704
Ensembl chr17:31,896,781...31,900,707 		JBrowse link
Cataract, Congenital Dominant Non Nuclear 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: Autosomal dominant nonnuclear polymorphic congenital cataract ClinVar PMID:10521291 PMID:12011157 PMID:12676897 PMID:17724170 PMID:18587492 More... NCBI chr 1:65,101,001...65,102,598
Ensembl chr 1:65,101,031...65,102,611 		JBrowse link
Cataract, Lamellar 2 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, lamellar 2 ClinVar PMID:25741868 PMID:26694549 PMID:28492532 NCBI chr 5:112,394,358...112,411,411
Ensembl chr 5:112,394,359...112,400,384 		JBrowse link
Cataract, Sutural, with Punctate and Cerulean Opacities 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, sutural, with punctate and cerulean opacities ClinVar PMID:2240043 PMID:8812489 PMID:9158139 PMID:10634616 PMID:11424921 More... NCBI chr 5:113,206,124...113,217,983
Ensembl chr 5:113,206,124...113,217,983 		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 isoleucine-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia OMIM
ClinVar		 PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 More... NCBI chr 1:185,018,839...185,061,615
Ensembl chr 1:185,016,923...185,061,593 		JBrowse link
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dkc1 dyskeratosis congenita 1, dyskerin ISO ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 ClinVar
OMIM		 PMID:32554502 NCBI chr  X:74,139,460...74,153,382
Ensembl chr  X:74,139,460...74,153,383 		JBrowse link
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 ClinVar
OMIM		 PMID:32554502 NCBI chr 2:112,092,271...112,093,243
Ensembl chr 2:112,092,271...112,093,614 		JBrowse link
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Far1 fatty acyl CoA reductase 1 ISO ClinVar Annotator: match by term: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY | ClinVar Annotator: match by term: FAR1-related neurodevelopmental disorder OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33239752 NCBI chr 7:113,113,008...113,170,713
Ensembl chr 7:113,113,041...113,170,718 		JBrowse link
cerebrooculofacioskeletal syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 ISO DNA:missense mutations:p.R616W, p.D681N (human)
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:3341805 PMID:7585650 PMID:7825573 PMID:7920640 PMID:8571952 More... RGD:1601070 NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619 		JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 ClinVar PMID:25741868 NCBI chr 7:19,128,365...19,138,101
Ensembl chr 7:19,128,362...19,138,029 		JBrowse link
cerebrooculofacioskeletal syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4		 OMIM
CTD
ClinVar		 PMID:17273966 PMID:23623389 PMID:25741868 PMID:28492532 PMID:33116287 More... NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449 		JBrowse link
G Polr1g RNA polymerase I subunit G ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 ClinVar PMID:25741868 PMID:28492532 PMID:33116287 NCBI chr 7:19,089,932...19,093,408
Ensembl chr 7:19,089,939...19,093,408 		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 ClinVar Annotator: match by term: Congenital Cataracts, Facial Dysmorphism, and Neuropathy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:14517542 PMID:15322984 PMID:16194727 PMID:20301787 PMID:23408394 More... NCBI chr18:80,451,174...80,522,959
Ensembl chr18:80,451,174...80,512,910 		JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Congenital Cataracts, Facial Dysmorphism, and Neuropathy ClinVar PMID:21031021 PMID:25741868 PMID:28839118 PMID:29461512 PMID:36161833 NCBI chr14:57,271,917...57,295,487
Ensembl chr14:57,271,917...57,295,557 		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 (acetyl-CoA transporter), member 1 ISO ClinVar Annotator: match by term: Huppke-Brendel syndrome OMIM
ClinVar		 PMID:15902551 PMID:22243965 PMID:22508683 PMID:25741868 PMID:27306358 More... NCBI chr 3:63,849,744...63,872,154
Ensembl chr 3:63,840,928...63,872,189 		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: Congenital muscular dystrophy with cataracts and intellectual disability OMIM
ClinVar		 PMID:25741868 PMID:28190456 PMID:28190459 PMID:28492532 PMID:33792664 NCBI chr11:75,519,893...75,539,691
Ensembl chr11:75,521,814...75,539,697 		JBrowse link
cortical senile cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epha2 Eph receptor A2 ISO ClinVar Annotator: match by term: Cortical senile cataract ClinVar PMID:19649315 PMID:20625407 PMID:22645087 PMID:22829731 PMID:23447127 More... NCBI chr 4:141,028,532...141,056,695
Ensembl chr 4:141,028,551...141,056,695 		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:10521291 PMID:10688888 PMID:10704279 PMID:11371638 More... NCBI chr 1:65,101,001...65,102,598
Ensembl chr 1:65,101,031...65,102,611 		JBrowse link
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmc3 proteasome (prosome, macropain) 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Deafness, cataract, impaired intellectual development, and polyneuropathy ClinVar
OMIM		 PMID:32500975 NCBI chr 2:90,884,361...90,889,783
Ensembl chr 2:90,884,354...90,896,714 		JBrowse link
diabetic cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsr glutathione reductase ISO RGD PMID:12518238 RGD:10401829 NCBI chr 8:34,143,266...34,188,190
Ensembl chr 8:34,142,551...34,188,191 		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 term: EDICT syndrome OMIM
ClinVar		 PMID:11874753 PMID:14638698 PMID:21996275 PMID:22131394 NCBI chr 9:89,684,313...89,684,381
Ensembl chr 9:89,684,313...89,684,381 		JBrowse link
Familial Partial Lipodystrophy Type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cav1 caveolin 1, caveolae protein ISO ClinVar Annotator: match by term: Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome OMIM
ClinVar		 PMID:11739396 PMID:18211975 PMID:18237401 PMID:25356970 PMID:25741868 More... NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451 		JBrowse link
Fine-Lubinsky Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdlbp high density lipoprotein (HDL) binding protein ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:25741868 NCBI chr 1:93,333,662...93,406,639
Ensembl chr 1:93,333,662...93,406,537 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:22162478 PMID:25741868 NCBI chr 5:135,698,894...135,764,180
Ensembl chr 5:135,698,887...135,764,180 		JBrowse link
G Slc39a13 solute carrier family 39 (metal ion transporter), member 13 ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:25741868 NCBI chr 2:90,892,136...90,900,754
Ensembl chr 2:90,892,136...90,900,762 		JBrowse link
foveal hypoplasia 1 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 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome ClinVar PMID:8364574 PMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532 NCBI chr 2:105,527,665...105,734,909
Ensembl chr 2:105,531,372...105,734,909 		JBrowse link
G LOC106014250 Pax6 upstream regulatory region ISO ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome ClinVar NCBI chr 2:105,490,598...105,506,398 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | 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 term: Foveal hypoplasia and presenile cataract syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8364574 PMID:8640214 PMID:9727514 PMID:9931324 PMID:10234503 More... NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		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 junction adhesion molecule 3 ISO ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts OMIM
ClinVar		 PMID:21109224 PMID:23255084 PMID:25741868 PMID:25741869 PMID:28492532 More... NCBI chr 9:27,008,680...27,066,739
Ensembl chr 9:27,008,680...27,066,717 		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: Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy | ClinVar Annotator: match by term: Cataracts, motor neuronopathy, short stature and skeletal abnormalities | ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A | ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:p.V243L, p.R252Q(human)		 OMIM
ClinVar
CTD
RGD		 PMID:8779323 PMID:9643297 PMID:9973297 PMID:25741868 PMID:26026163 More... RGD:11056004 NCBI chr19:40,538,701...40,576,907
Ensembl chr19:40,538,701...40,576,907 		JBrowse link
High Myopia with Cataract and Vitreoretinal Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P3h2 prolyl 3-hydroxylase 2 ISO ClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degeneration | ClinVar Annotator: match by term: P3H2-related condition OMIM
ClinVar		 PMID:21885030 PMID:24172257 PMID:25469533 PMID:25741868 PMID:28492532 More... NCBI chr16:25,778,034...25,924,563
Ensembl chr16:25,778,038...25,924,534 		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 polypeptide 1 ISO DNA:deletion:5' utr: (human)
ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts
CTD Direct Evidence: marker/mechanism
DNA:mutations:5'utr:		 ClinVar
CTD
OMIM
RGD		 PMID:2336358 PMID:7492760 PMID:7493028 PMID:7669675 PMID:8233801 More... RGD:1598966, RGD:5509864 NCBI chr 7:45,107,368...45,109,310
Ensembl chr 7:45,107,368...45,109,308 		JBrowse link
G Gys1 glycogen synthase 1, muscle ISO ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 7:45,084,263...45,106,041
Ensembl chr 7:45,084,268...45,106,043 		JBrowse link
hypomyelinating leukodystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdca7l cell division cycle associated 7 like ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr12:117,807,209...117,842,441
Ensembl chr12:117,768,024...117,842,441 		JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr12:117,841,717...118,162,778
Ensembl chr12:117,841,717...118,162,778 		JBrowse link
G Hycc1 hyccin PI4KA lipid kinase complex subunit 1 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16951682 PMID:17576681 PMID:17683097 More... NCBI chr 5:24,120,274...24,235,694
Ensembl chr 5:24,120,274...24,235,688 		JBrowse link
G Il6 interleukin 6 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Rapgef5 Rap guanine nucleotide exchange factor (GEF) 5 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr12:117,480,146...117,723,472
Ensembl chr12:117,480,099...117,723,472 		JBrowse link
G Sp4 trans-acting transcription factor 4 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr12:118,195,421...118,265,211
Ensembl chr12:118,198,668...118,265,175 		JBrowse link
G Tomm7 translocase of outer mitochondrial membrane 7 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 5:24,043,942...24,049,143
Ensembl chr 5:24,043,942...24,049,159 		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:25741868 PMID:30239721 NCBI chr 1:52,202,608...52,274,168
Ensembl chr 1:52,202,607...52,272,391 		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 sine oculis-related homeobox 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:72,986,656...72,991,673
Ensembl chr12:72,986,666...72,991,673 		JBrowse link
Isolated Microphthalmia with Cataract 4 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: Microphthalmia, isolated, with cataract 4 ClinVar PMID:25741868 PMID:26694549 PMID:28492532 NCBI chr 5:112,394,358...112,411,411
Ensembl chr 5:112,394,359...112,400,384 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica		 OMIM
CTD
ClinVar		 PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr14:73,599,666...73,622,729
Ensembl chr14:73,599,666...73,622,729 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kahrizi syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE		 OMIM
CTD
ClinVar		 PMID:18781183 PMID:20637498 PMID:20700148 PMID:20852264 PMID:22304929 More... NCBI chr 5:76,285,296...76,303,350
Ensembl chr 5:76,288,118...76,303,351 		JBrowse link
Marinesco-Sjogren syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2a eukaryotic translation initiation factor 2A ISO ClinVar Annotator: match by term: Marinesco-Sjögren syndrome ClinVar PMID:25741868 NCBI chr 3:58,433,252...58,464,922
Ensembl chr 3:58,433,242...58,464,922 		JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Marinesco-Sjogren Syndrome | ClinVar Annotator: match by term: Marinesco-Sjogren-Garland Syndrome | ClinVar Annotator: match by term: Marinesco-Sjögren syndrome ClinVar PMID:9536098 PMID:10665502 PMID:12692552 PMID:16199547 PMID:16282977 More... NCBI chr18:35,399,449...35,632,443
Ensembl chr18:35,399,449...35,632,833 		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 susceptibility ISO DNA:SNP:splice junction:
ClinVar Annotator: match by term: Deafness, myopia, cataract, saddle nose-Marshall type | ClinVar Annotator: match by term: Marshall syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:9129742 PMID:9529347 PMID:9536098 PMID:9792885 PMID:10486316 More... RGD:1600881 NCBI chr 3:113,823,933...114,014,405
Ensembl chr 3:113,824,189...114,014,367 		JBrowse link
G Pcdh12 protocadherin 12 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:38,400,145...38,417,454
Ensembl chr18:38,400,142...38,417,455 		JBrowse link
G Rnf14 ring finger protein 14 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:38,410,513...38,450,905
Ensembl chr18:38,417,590...38,450,902 		JBrowse link
G Rnpc3 RNA-binding region (RNP1, RRM) containing 3 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 NCBI chr 3:113,398,716...113,423,798
Ensembl chr 3:113,398,716...113,423,798 		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 ISO ClinVar Annotator: match by term: Marshall/Stickler syndrome ClinVar PMID:1536174 PMID:10486316 NCBI chr 3:113,823,933...114,014,405
Ensembl chr 3:113,824,189...114,014,367 		JBrowse link
Martsolf Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr 1:185,061,619...185,089,974
Ensembl chr 1:185,064,346...185,089,974 		JBrowse link
G C130074G19Rik RIKEN cDNA C130074G19 gene ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr 1:184,604,123...184,615,233
Ensembl chr 1:184,604,123...184,615,415 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr 1:185,093,614...185,160,557
Ensembl chr 1:185,095,241...185,160,557 		JBrowse link
G Iars2 isoleucine-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr 1:185,018,839...185,061,615
Ensembl chr 1:185,016,923...185,061,593 		JBrowse link
G Lyplal1 lysophospholipase-like 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr 1:185,819,929...185,849,507
Ensembl chr 1:185,819,928...185,849,507 		JBrowse link
G Mark1 MAP/microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr 1:184,628,621...184,732,152
Ensembl chr 1:184,628,986...184,731,767 		JBrowse link
G Mir194-1 microRNA 194-1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr 1:185,045,516...185,045,582
Ensembl chr 1:185,045,516...185,045,582 		JBrowse link
G Mir215 microRNA 215 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr 1:185,045,778...185,045,889
Ensembl chr 1:185,045,778...185,045,889 		JBrowse link
G Mtarc1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr 1:184,518,964...184,543,622
Ensembl chr 1:184,518,964...184,543,394 		JBrowse link
G Mtarc2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr 1:184,545,263...184,579,266
Ensembl chr 1:184,545,265...184,578,648 		JBrowse link
G Rab3gap1 RAB3 GTPase activating protein subunit 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:29300443 NCBI chr 1:127,796,492...127,871,612
Ensembl chr 1:127,796,510...127,871,605 		JBrowse link
G Rab3gap2 RAB3 GTPase activating protein subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract mental retardation hypogonadism | ClinVar Annotator: match by term: Martsolf syndrome		 CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:16532399 PMID:17576681 PMID:18414213 More... NCBI chr 1:184,936,287...185,018,953
Ensembl chr 1:184,936,314...185,018,956 		JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr 1:185,187,045...185,200,959
Ensembl chr 1:185,187,045...185,200,959 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186 		JBrowse link
Martsolf syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap35 Rho GTPase activating protein 35 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr 7:16,228,398...16,349,313
Ensembl chr 7:16,227,644...16,348,918 		JBrowse link
G Arhgap5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr12:52,550,555...52,618,761
Ensembl chr12:52,550,755...52,618,758 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734 		JBrowse link
G Igsf10 immunoglobulin superfamily, member 10 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr 3:59,224,156...59,256,836
Ensembl chr 3:59,224,156...59,251,815 		JBrowse link
G Klb klotho beta ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr 5:65,505,754...65,544,300
Ensembl chr 5:65,505,657...65,541,350 		JBrowse link
G Rab3gap2 RAB3 GTPase activating protein subunit 2 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 OMIM
ClinVar		 PMID:16532399 PMID:23420520 PMID:24891604 PMID:25741868 PMID:28492532 More... NCBI chr 1:184,936,287...185,018,953
Ensembl chr 1:184,936,314...185,018,956 		JBrowse link
G Sema3a sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:22927827 PMID:25741868 NCBI chr 5:13,174,789...13,653,453
Ensembl chr 5:13,175,381...13,652,533 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr 8:124,138,292...124,148,754
Ensembl chr 8:124,138,163...124,148,754 		JBrowse link
Martsolf Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap1 RAB3 GTPase activating protein subunit 1 ISO ClinVar Annotator: match by term: Martsolf syndrome 2 OMIM
ClinVar		 PMID:23420520 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29300443 More... NCBI chr 1:127,796,492...127,871,612
Ensembl chr 1:127,796,510...127,871,605 		JBrowse link
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum term browser