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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:lens disease
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Accession:DOID:110 term browser browse the term
Definition:An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye. (DO)
Synonyms:exact_synonym: lens diseases
 primary_id: MESH:D007905
 xref: EFO:0009674;   ICD10CM:H27.9;   NCI:C26812
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
lens disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISS MouseDO NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848 		JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123441 NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074 		JBrowse link
G Siah2 siah E3 ubiquitin protein ligase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24282676 NCBI chr 2:142,913,924...142,931,752
Ensembl chr 2:142,914,003...142,931,950 		JBrowse link
3-methylglutaconic aciduria type 7a term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb ClpB family mitochondrial disaggregase 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 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788 		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 subunit 15 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,238,640...156,266,005
Ensembl chr 1:156,262,841...156,268,145 		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 1:155,748,622...155,814,186
Ensembl chr 1:155,748,652...155,814,184 		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 1:155,230,607...155,290,163
Ensembl chr 1:155,233,168...155,290,498 		JBrowse link
G Arrb1 arrestin, beta 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,837,964...153,912,111
Ensembl chr 1:153,838,078...153,904,061 		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 1:155,687,386...155,703,419
Ensembl chr 1:155,684,564...155,703,420 		JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520 		JBrowse link
G Chrdl2 chordin-like 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,343,201...154,370,651
Ensembl chr 1:154,343,201...154,370,640 		JBrowse link
G Clpb ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25595726 PMID:25597510 More... NCBI chr 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788 		JBrowse link
G Coa4 cytochrome c oxidase assembly factor 4 homolog ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,882,199...154,885,445
Ensembl chr 1:154,882,155...154,888,174 		JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055 		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 1:154,848,586...154,863,042
Ensembl chr 1:154,848,594...154,862,963 		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 1:155,057,352...155,203,439
Ensembl chr 1:155,057,352...155,201,220 		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 1:155,444,471...155,685,350
Ensembl chr 1:155,444,460...155,685,539 		JBrowse link
G Folr1 folate receptor alpha ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,219,460...156,238,436
Ensembl chr 1:156,219,460...156,230,667 		JBrowse link
G Folr2 folate receptor beta ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,200,044...156,218,380
Ensembl chr 1:156,200,060...156,205,724 		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 1:153,679,718...153,761,452
Ensembl chr 1:153,679,718...153,761,446 		JBrowse link
G Il18bp interleukin 18 binding protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963 		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 1:156,183,043...156,197,500
Ensembl chr 1:156,183,059...156,197,500 		JBrowse link
G Kcne3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,523,903...154,530,865
Ensembl chr 1:154,523,830...154,532,020 		JBrowse link
G Klhl35 kelch-like family member 35 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,767,138...153,773,550
Ensembl chr 1:153,767,970...153,773,557 		JBrowse link
G Krtap5-8 keratin associated protein 5-8 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:197,446,125...197,446,817
Ensembl chr 1:197,446,125...197,446,817 		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 1:156,272,116...156,277,687
Ensembl chr 1:156,272,064...156,291,179 		JBrowse link
G Lipt2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,504,563...154,506,890
Ensembl chr 1:154,504,563...154,506,890 		JBrowse link
G Lrtomt leucine rich transmembrane and O-methyltransferase domain containing ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,266,655...156,268,704
Ensembl chr 1:156,266,655...156,268,704 		JBrowse link
G Mir139 microRNA 139 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,878,828...155,878,895
Ensembl chr 1:155,878,825...155,878,902 		JBrowse link
G Mir326 microRNA 326 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,854,029...153,854,123
Ensembl chr 1:153,854,029...153,854,123 		JBrowse link
G Mrpl48 mitochondrial ribosomal protein L48 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,896,663...154,939,285
Ensembl chr 1:154,896,663...154,939,281 		JBrowse link
G Nadsyn1 NAD synthetase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:198,981,604...199,009,869 		JBrowse link
G Neu3 neuraminidase 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,137,732...154,148,879
Ensembl chr 1:154,050,855...154,148,813 		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 1:156,297,907...156,372,855
Ensembl chr 1:156,326,259...156,372,855 		JBrowse link
G Olr35 olfactory receptor 35 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,994,678...154,043,281
Ensembl chr 1:154,041,306...154,043,257 		JBrowse link
G P2ry2 purinergic receptor P2Y2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,352,050...155,367,423
Ensembl chr 1:155,351,165...155,367,632 		JBrowse link
G P2ry6 pyrimidinergic receptor P2Y6 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,295,110...155,330,610
Ensembl chr 1:155,295,111...155,330,808 		JBrowse link
G P4ha3 prolyl 4-hydroxylase subunit alpha 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,628,723...154,663,779
Ensembl chr 1:154,628,736...154,663,775 		JBrowse link
G Pde2a phosphodiesterase 2A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,823,590...155,915,434
Ensembl chr 1:155,813,180...155,915,434 		JBrowse link
G Pgm2l1 phosphoglucomutase 2-like 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,571,410...154,620,901
Ensembl chr 1:154,571,766...154,620,902 		JBrowse link
G Phox2a paired-like homeobox 2a ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,178,754...156,183,118
Ensembl chr 1:156,178,754...156,183,118 		JBrowse link
G Plekhb1 pleckstrin homology domain containing B1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,998,798...155,013,094
Ensembl chr 1:154,998,800...155,016,142 		JBrowse link
G Pold3 DNA polymerase delta 3, accessory subunit ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,417,893...154,456,687
Ensembl chr 1:154,418,084...154,456,665 		JBrowse link
G Ppme1 protein phosphatase methylesterase 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,668,099...154,715,079
Ensembl chr 1:154,668,109...154,715,110 		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 1:154,957,870...155,008,922
Ensembl chr 1:154,958,189...154,996,715 		JBrowse link
G Relt RELT, TNF receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:155,206,976...155,224,609
Ensembl chr 1:155,206,976...155,214,196 		JBrowse link
G Rnf121 ring finger protein 121 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:156,377,368...156,439,936
Ensembl chr 1:156,377,364...156,446,826 		JBrowse link
G Rnf169 ring finger protein 169 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,250,462...154,311,867
Ensembl chr 1:154,254,473...154,311,653 		JBrowse link
G Rps3 ribosomal protein S3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,778,363...153,783,663
Ensembl chr 1:153,777,472...153,783,680 		JBrowse link
G Serpinh1 serpin family H member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,643,500...153,650,853
Ensembl chr 1:153,643,510...153,650,801 		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 1:153,959,288...154,007,294
Ensembl chr 1:153,959,293...154,007,353 		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 1:153,782,788...153,782,935
Ensembl chr 1:153,782,788...153,782,935 		JBrowse link
G Spcs2 signal peptidase complex subunit 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,163,724...154,183,152
Ensembl chr 1:154,163,724...154,183,186 		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 1:155,722,637...155,748,007
Ensembl chr 1:155,718,389...155,747,094 		JBrowse link
G Tpbgl trophoblast glycoprotein-like ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:153,923,722...153,926,548
Ensembl chr 1:153,925,098...153,926,252 		JBrowse link
G Ucp2 uncoupling protein 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611 		JBrowse link
G Ucp3 uncoupling protein 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB ClinVar PMID:28492532 NCBI chr 1:154,815,777...154,828,764
Ensembl chr 1:154,815,777...154,828,762 		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 1:154,183,330...154,247,883
Ensembl chr 1:154,183,377...154,247,895 		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 family mitochondrial disaggregase ISO 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 1:156,028,740...156,158,183
Ensembl chr 1:156,028,930...156,168,788 		JBrowse link
aniridia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc1-ps1 doublecortin domain containing 1, pseudogene 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 More... NCBI chr 3:92,486,054...92,896,696
Ensembl chr 3:92,718,047...92,896,542 		JBrowse link
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 More... NCBI chr 3:92,450,631...92,486,004
Ensembl chr 3:92,450,639...92,485,901 		JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:8364574 PMID:10234503 PMID:10737978 PMID:11284764 PMID:11309364 More... NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243 		JBrowse link
G Immp1l inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 More... NCBI chr 3:92,385,329...92,449,559
Ensembl chr 3:92,385,379...92,452,313 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Aniridia 1 | ClinVar Annotator: match by term: Cataracts, congenital, with late-onset corneal dystrophy OMIM
ClinVar		 PMID:1251879 PMID:1302030 PMID:1345175 PMID:1684738 PMID:1954207 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
G Rcn1 reticulocalbin 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:91,841,052...91,855,295
Ensembl chr 3:91,841,052...91,855,295 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
Aphakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxe3 forkhead box E3 ISO DNA:nonsense mutation:cds:p.C240X (human) RGD PMID:16826526 RGD:1598956 NCBI chr 5:128,444,912...128,446,494
Ensembl chr 5:128,445,594...128,446,454 		JBrowse link
G Pitx3 paired-like homeodomain 3 ISO DNA:nonsense mutation:cl444C>A(mouse)
DNA:deletions:promoter, cds:		 RGD PMID:25347445 PMID:11247667 RGD:11535071, RGD:11535075 NCBI chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892 		JBrowse link
autosomal dominant isolated ectopia lentis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:370588 PMID:627879 PMID:845663 PMID:948948 PMID:2005308 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant ClinVar PMID:23218701 PMID:23401661 PMID:28492532 NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
autosomal recessive isolated ectopia lentis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISO
ISS		 ClinVar Annotator: match by term: ADAMTSL4-related condition | ClinVar Annotator: match by term: Ectopia lentis 2, isolated, autosomal recessive
OMIM:225100
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2056446 PMID:2377351 PMID:9536098 PMID:17576681 PMID:19200529 More... NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848 		JBrowse link
Ayme-Gripp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Ayme-Gripp syndrome | ClinVar Annotator: match by term: Ayme-gripp syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8834052 PMID:8867660 PMID:12072800 PMID:17935251 PMID:25064449 More... NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365 		JBrowse link
Baralle-Macken Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb1 COPI coat complex subunit beta 1 ISO ClinVar Annotator: match by term: Baralle-Macken syndrome OMIM
ClinVar		 PMID:25741868 PMID:33632302 NCBI chr 1:168,404,334...168,438,589
Ensembl chr 1:168,404,335...168,438,416 		JBrowse link
cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr1 activin A receptor type 1 ISO RGD PMID:21504908 RGD:8547757 NCBI chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241 		JBrowse link
G Adam10 ADAM metallopeptidase domain 10 IEP mRNA:increased expression:retina RGD PMID:23941810 RGD:13703031 NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889 		JBrowse link
G Agk acylglycerol kinase ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 4:69,114,850...69,193,989
Ensembl chr 4:69,114,269...69,193,934 		JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B1 treatment
susceptibility		 IDA
ISO
IMP		 associated with Galactosemia
human gene in mouse model
associated with Diabetes Mellitus, Type 2;DNA:promoter:repeat:g.(AC)n (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21329682 PMID:21376710 PMID:25541468 PMID:28137510 PMID:17444799 More... RGD:1626083, RGD:8548638, RGD:8548671, RGD:8548672 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human) RGD PMID:26320891 RGD:13434923 NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890 		JBrowse link
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28038895 NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681 		JBrowse link
G Anxa1 annexin A1 ISO
IEP		 DNA, protein:polymorphism: :p.R212I (mouse) RGD PMID:19003866 PMID:1385581 RGD:7421556, RGD:7421566 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343 		JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16799786 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Atp2b1 ATPase plasma membrane Ca2+ transporting 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15003327 NCBI chr 7:33,735,595...33,845,226
Ensembl chr 7:33,735,871...33,843,295 		JBrowse link
G B2m beta-2 microglobulin ISO associated with Diabetic Nephropathies RGD PMID:12567748 RGD:2311237 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Bcor BCL6 co-repressor ISO 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:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613 		JBrowse link
G Bfsp1 beaded filament structural protein 1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr 3:131,195,087...131,252,668
Ensembl chr 3:131,195,087...131,229,337 		JBrowse link
G Bfsp2 beaded filament structural protein 2 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 8:104,006,226...104,063,399
Ensembl chr 8:104,006,226...104,063,399 		JBrowse link
G Brca2 BRCA2, DNA repair associated IAGP
IMP		 DNA:nonsense mutation RGD PMID:16964288 PMID:16964288 RGD:1599505, RGD:1599505 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Brca2m1Uwm BRCA2, DNA repair associated; mutation 1, University of Wisconsin-Madison IMP RGD PMID:16964288 RGD:1599505
G Casp3 caspase 3 treatment IEP RGD PMID:23508955 RGD:13782357 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Casp9 caspase 9 treatment IEP RGD PMID:23508955 RGD:13782357 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626 		JBrowse link
G Cat catalase treatment
no_association		 ISO
IEP		 protein:decreased activity:erythrocyte:
protein:decreased activity:lens:		 RGD PMID:15295623 PMID:21635889 PMID:11408722 RGD:9068905, RGD:9068909, RGD:9068911 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Cck cholecystokinin IDA associated with Diabetes Mellitus, Experimental RGD PMID:16989746 RGD:2313636 NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084 		JBrowse link
G Ccl11 C-C motif chemokine ligand 11 IEP associated with Diabetes Mellitus, Type 1;protein:increased expression:serum RGD PMID:23049540 RGD:7248415 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B IAGP
IMP		 in KO rat RGD PMID:12036912 PMID:30893315 PMID:17030811 RGD:619590, RGD:126908018, RGD:2293616 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G Cdkn1bem1Musc cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 1, Musc IMP RGD PMID:30893315 RGD:126908018
G Cdkn1bem4Musc cyclin-dependent kinase inhibitor 1B; CRISPR/Cas9 induced mutant 4, Musc IMP RGD PMID:30893315 RGD:126908018
G Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation IAGP RGD PMID:17030811 PMID:12036912 RGD:2293616, RGD:619590
G Clock clock circadian regulator ISO RGD PMID:21149897 RGD:10401871 NCBI chr14:31,908,542...31,992,673
Ensembl chr14:31,908,566...31,990,400 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:12415512 PMID:16199547 PMID:19390655 PMID:25456301 PMID:28492532 NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:8317498 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:17696175 PMID:20301768 PMID:25741868 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Copb1 COPI coat complex subunit beta 1 ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 PMID:33632302 NCBI chr 1:168,404,334...168,438,589
Ensembl chr 1:168,404,335...168,438,416 		JBrowse link
G Cryaa crystallin, alpha A IEP
ISO
IDA		 Protein:altered localization:plasma membrane
ClinVar Annotator: match by term: Congenital cataract
protein:decreased expression:lens:
CTD Direct Evidence: marker/mechanism
Protein:increased modification		 ClinVar
CTD
RGD		 PMID:9467006 PMID:17724170 PMID:17937925 PMID:18587492 PMID:19503744 More... RGD:1600993, RGD:13503352, RGD:1600984 NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349 		JBrowse link
G Cryab crystallin, alpha B ISO
IEP		 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 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157 		JBrowse link
G Cryba1 crystallin, beta A1 ISO
IMP		 DNA:splice-site mutation:intron:c.215+1G>A (human)
associated with Diabetes Mellitus, Type 1;mRNA,protein:increased expression:lens:
DNA:splice-site mutation:intron:IVS3+1G>A(human)
DNA:splice-site mutation:intron:IVS3+1G>T(human)		 RGD PMID:22919269 PMID:15721615 PMID:17931883 PMID:24520233 PMID:20142846 More... RGD:10059634, RGD:126925760, RGD:2303652, RGD:10059653, RGD:10059642, RGD:10059641 NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726 		JBrowse link
G Cryba1Nuc1Dbsa crystallin, beta A1;Nuc1 mutant, Dbsa IMP RGD PMID:15721615 PMID:17931883 RGD:126925760, RGD:2303652
G Cryba4 crystallin, beta A4 IEP
ISO		 protein:decreased expression:lens
ClinVar Annotator: match by term: Congenital cataract		 ClinVar
RGD		 PMID:25741868 PMID:26694549 PMID:28272538 PMID:28492532 PMID:10726880 RGD:2303653 NCBI chr12:44,378,734...44,393,226
Ensembl chr12:44,378,737...44,393,221 		JBrowse link
G Crybb1 crystallin, beta B1 ISO DNA:nonsense mutation:cds:p.G220X (human)
ClinVar Annotator: match by term: Congenital cataract
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:12360425 PMID:25741868 PMID:26694549 PMID:28272538 PMID:12360425 RGD:728217 NCBI chr12:44,369,734...44,383,344
Ensembl chr12:44,369,735...44,383,344 		JBrowse link
G Crybb2 crystallin, beta B2 susceptibility ISO congenital cerulean cataract type 2, OMIM:601547;DNA:nonsense mutation
ClinVar Annotator: match by term: Congenital cataract
DNA:nonsense mutation: :p.Q155X (human)		 ClinVar
RGD		 PMID:2240043 PMID:8812489 PMID:9158139 PMID:10634616 PMID:11424921 More... RGD:1601011, RGD:734832 NCBI chr12:43,569,747...43,579,671
Ensembl chr12:43,569,747...43,579,671 		JBrowse link
G Crybb3 crystallin, beta B3 ISO ClinVar Annotator: match by term: 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 chr12:43,557,103...43,562,120
Ensembl chr12:43,557,103...43,562,120 		JBrowse link
G Cryga crystallin, gamma A ISS
ISO		 OMIM:601371
ClinVar Annotator: match by term: Congenital cataract		 MouseDO
ClinVar		 PMID:25741868 PMID:28839118 NCBI chr 9:66,482,176...66,484,638
Ensembl chr 9:66,482,176...66,509,896 		JBrowse link
G Crygc crystallin, gamma C susceptibility ISO Coppock-like cataract, OMIM:604307;DNA:transversion:exon:225A>C
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital cataract		 CTD
ClinVar
RGD		 PMID:10914683 PMID:11773036 PMID:24281366 PMID:26694549 PMID:10521291 RGD:1601015 NCBI chr 9:66,451,591...66,453,626
Ensembl chr 9:66,451,593...66,453,626 		JBrowse link
G Crygd crystallin, gamma D TAS
ISO		 ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9927684 PMID:12011157 PMID:12676897 PMID:17724170 PMID:21827768 More... RGD:1298817 NCBI chr 9:66,442,057...66,443,668
Ensembl chr 9:66,442,054...66,444,067 		JBrowse link
G Crygs crystallin, gamma S ISO CTD Direct Evidence: marker/mechanism CTD PMID:16141006 NCBI chr11:78,207,170...78,212,273
Ensembl chr11:78,207,170...78,212,273 		JBrowse link
G Cth cystathionine gamma-lyase IDA RGD PMID:15683713 RGD:1600763 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		JBrowse link
G Cyp51 cytochrome P450, family 51 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410 		JBrowse link
G Dmd dystrophin disease_progression ISO RGD PMID:25489223 RGD:12879865 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G Dnase2b deoxyribonuclease 2 beta ISS OMIM:601371 MouseDO NCBI chr 2:235,470,915...235,515,211
Ensembl chr 2:235,470,919...235,486,295 		JBrowse link
G Epha2 Eph receptor A2 ISO ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 PMID:26694549 NCBI chr 5:153,605,644...153,634,115
Ensembl chr 5:153,605,644...153,634,117 		JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:5,727,111...5,845,338
Ensembl chr 1:5,727,066...5,920,555 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO DNA:mutation:cds:c.2209T>C (p.S37P) (human) RGD PMID:25951169 RGD:12880390 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18628313 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
G Ero1b endoplasmic reticulum oxidoreductase 1 beta ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 PMID:33867527 NCBI chr17:85,861,086...86,003,244
Ensembl chr17:85,929,618...86,003,398 		JBrowse link
G 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 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483 		JBrowse link
G Fas Fas cell surface death receptor ISO associated with Diabetic Retinopathy; mRNA,protein:increased expression:epithelial cell RGD PMID:12658358 RGD:2315757 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G 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 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 IAGP RGD PMID:16440058 RGD:1626611 NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO mRNA:increased expression:lens, epithelial cell RGD PMID:19491954 RGD:8554856 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 8:123,412,105...123,479,315
Ensembl chr 8:123,412,112...123,479,021 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase treatment IDA RGD PMID:24886740 RGD:10449123 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Galk1 galactokinase 1 ISO DNA:missense mutation, nonsense mutation:cds:p.V32M, p.E80X (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:7670469 PMID:7670469 RGD:1300192 NCBI chr10:101,243,146...101,247,323
Ensembl chr10:101,235,994...101,247,337 		JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISS OMIM:601371 MouseDO NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544 		JBrowse link
G Gcnt2 glucosaminyl (N-acetyl) transferase 2 ISO DNA:nonsense mutation:exon:
ClinVar Annotator: match by term: Congenital cataract		 ClinVar
RGD		 PMID:15161861 RGD:8693611 NCBI chr17:23,796,859...23,901,625
Ensembl chr17:23,796,859...23,901,611 		JBrowse link
G Gemin4 gem (nuclear organelle) associated protein 4 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25558065 PMID:25741868 PMID:27878435 NCBI chr10:61,062,420...61,073,529
Ensembl chr10:61,066,425...61,073,431
Ensembl chr10:61,066,425...61,073,431 		JBrowse link
G Gja3 gap junction protein, alpha 3 IAGP
ISO		 DNA:missense mutation
ClinVar Annotator: match by term: Congenital cataract		 ClinVar
RGD		 PMID:15208569 PMID:16885921 PMID:19182255 PMID:22843197 PMID:25741868 More... RGD:1599824 NCBI chr15:31,181,360...31,206,820
Ensembl chr15:31,181,369...31,206,810 		JBrowse link
G Gja8 gap junction protein, alpha 8 IAGP
ISO		 ClinVar Annotator: match by term: Congenital cataract
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9497259 PMID:18334946 PMID:21228318 PMID:23832966 PMID:25003127 More... RGD:629571 NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456 		JBrowse link
G Gja8m1Cas gap junction protein, alpha 8; mutant 1 Cas IAGP RGD PMID:12356818 RGD:629571
G Gpx1 glutathione peroxidase 1 IDA RGD PMID:23194826 RGD:11353787 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gsr glutathione-disulfide reductase treatment ISO
IDA		 RGD PMID:947404 PMID:24530554 RGD:1600697, RGD:10401885 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
no_association		 ISO DNA:deletion:cds (human) RGD PMID:7781744 PMID:8631631 RGD:7488949, RGD:7488950 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility
no_association		 ISO DNA:deletion:cds (human) RGD PMID:20335620 PMID:22876127 RGD:7794821, RGD:7794839 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hsf4 heat shock transcription factor 4 ISO autosomal dominant lamellar cataract, OMIM:116800
ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract		 ClinVar
RGD		 PMID:25741868 PMID:12089525 RGD:1599774 NCBI chr19:33,147,755...33,153,479
Ensembl chr19:33,147,755...33,153,479 		JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:8409271 PMID:25130867 PMID:25741868 NCBI chr13:96,831,484...96,865,518
Ensembl chr13:96,831,484...96,865,501 		JBrowse link
G Ifng interferon gamma ISO RGD PMID:8188461 RGD:8157612 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il18 interleukin 18 IEP associated with Diabetes Mellitus, Type 2;mRNA:increased expression:lens RGD PMID:18006521 PMID:21591858 RGD:8655879, RGD:8655881 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Lemd2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr20:5,282,397...5,296,621
Ensembl chr20:5,282,397...5,296,626 		JBrowse link
G Lim2 lens intrinsic membrane protein 2 onset ISO
ISS		 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 1:93,837,597...93,843,769
Ensembl chr 1:93,837,597...93,843,769 		JBrowse link
G Lonp1 lon peptidase 1, mitochondrial ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr 9:1,447,444...1,459,771
Ensembl chr 9:1,447,447...1,459,771 		JBrowse link
G Lss lanosterol synthase ISO
ISS		 DNA:missense mutations:cds:p.W581R, p.G588S (human)
OMIM:601371
ClinVar Annotator: match by term: Congenital cataract		 MouseDO
ClinVar
RGD		 PMID:25741868 PMID:26200341 RGD:126925964 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762 		JBrowse link
G Maf MAF bZIP transcription factor ISO DNA:missense mutation: :p.R288P (human)
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 chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365 		JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 IMP RGD PMID:11222509 RGD:12801446 NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147 		JBrowse link
G Miat myocardial infarction associated transcript ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:28272538 NCBI chr12:44,414,620...44,429,852 JBrowse link
G Mip major intrinsic protein of lens fiber ISO ClinVar Annotator: match by term: 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 chr 7:643,502...653,121
Ensembl chr 7:647,315...654,400 		JBrowse link
G Mir184 microRNA 184 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr 8:90,343,134...90,343,210
Ensembl chr 8:90,343,134...90,343,210 		JBrowse link
G Mir221 microRNA 221 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926320 NCBI chr  X:3,429,465...3,429,573
Ensembl chr  X:3,429,465...3,429,573 		JBrowse link
G Mmaa metabolism of cobalamin associated A ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 PMID:28492532 NCBI chr19:28,619,060...28,649,319
Ensembl chr19:28,619,087...28,649,319 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:17062942 RGD:8693669 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs, haplotype: : 677C>T, 1298A>C (human) RGD PMID:16310481 RGD:7387253 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Ndrg2 NDRG family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22043305 NCBI chr15:24,600,981...24,609,621
Ensembl chr15:24,600,982...24,609,626 		JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr 9:60,129,240...60,139,452
Ensembl chr 9:60,129,154...60,139,446 		JBrowse link
G Nectin3 nectin cell adhesion molecule 3 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr11:54,362,712...54,469,351
Ensembl chr11:54,364,487...54,462,519 		JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 disease_progression ISO DNA:snps, haplotype:5' utr, intron:multiple (human) RGD PMID:20064547 RGD:6893326 NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737 		JBrowse link
G Nhs NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:26694549 NCBI chr  X:32,553,300...32,892,961
Ensembl chr  X:32,552,026...32,889,992 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 IMP RGD PMID:12714641 RGD:4892118 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:23047739 PMID:25741868 PMID:26694549 PMID:28492532 NCBI chr  X:127,089,508...127,140,362
Ensembl chr  X:127,089,590...127,140,362 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase susceptibility ISO DNA:SNP: :p.S326C (rs1052133)(human) RGD PMID:22306120 RGD:8657151 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Pank4 pantothenate kinase 4 ISS OMIM:601371 MouseDO NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135 		JBrowse link
G Pax6 paired box 6 ISO
ISS		 human gene in a mouse model
OMIM:601371
ClinVar Annotator: match by term: Congenital cataract
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD
RGD		 PMID:25741868 PMID:26694549 PMID:29178648 PMID:30221735 PMID:10954416 More... RGD:8552253, RGD:8552372 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
G Pex11b peroxisomal biogenesis factor 11 beta ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 2:184,172,041...184,180,972
Ensembl chr 2:184,172,004...184,181,495 		JBrowse link
G Pgrmc1 progesterone receptor membrane component 1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 PMID:33867527 NCBI chr  X:115,832,865...115,841,060
Ensembl chr  X:115,832,884...115,888,682 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28166811 PMID:28492532 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293 		JBrowse link
G Pitx3 paired-like homeodomain 3 ISO DNA:insertion:exon:c.657ins17bp
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 chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892 		JBrowse link
G Pon1 paraoxonase 1 ISO associated with Diabetes Mellitus, Type 2;protein:decreased activity:eye, lens (human) RGD PMID:19439227 RGD:8547553 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407 		JBrowse link
G Psmc3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:32500975 NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 PMID:28492532 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Pten phosphatase and tensin homolog ISO RGD PMID:24270425 RGD:12859033 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Pxdn peroxidasin ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 PMID:26694549 PMID:28492532 NCBI chr 6:46,580,749...46,658,345
Ensembl chr 6:46,580,761...46,658,345 		JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478 		JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:32581362 NCBI chr18:26,872,423...27,104,365
Ensembl chr18:26,872,429...27,104,332 		JBrowse link
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548 		JBrowse link
G Six6os1 Six6 opposite strand transcript 1 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148 		JBrowse link
G Slc16a12 solute carrier family 16, member 12 ISO ClinVar Annotator: match by term: Congenital cataract ClinVar PMID:25741868 PMID:26694549 NCBI chr 1:232,184,004...232,262,170
Ensembl chr 1:232,185,907...232,262,141 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:12415512 PMID:25456301 PMID:28492532 NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:11222509 RGD:12801446 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Slc2a3 solute carrier family 2 member 3 IEP associated with Diabetes Mellitus, Experimental RGD PMID:12882795 RGD:2313618 NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472 		JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22243965 NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758 		JBrowse link
G Slc4a4 solute carrier family 4 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18614622 NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883 		JBrowse link
G Slc9a1 solute carrier family 9 member A1 IMP associated with Diabetes Mellitus, Experimental RGD PMID:22407349 RGD:8693684 NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624 		JBrowse link
G Sod1 superoxide dismutase 1 susceptibility ISO associated with Diabetes Mellitus, Experimental
DNA:snp:intron:IVS3-251A>G (rs2070424) (human)
mRNA:decreased expression:eye lens (human)		 RGD PMID:19324844 PMID:21921984 PMID:23970468 PMID:16254550 RGD:2312362, RGD:8655573, RGD:8655570, RGD:1581192 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sord sorbitol dehydrogenase ISS OMIM:601371 MouseDO NCBI chr 3:109,184,697...109,216,133
Ensembl chr 3:109,184,676...109,216,133 		JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:196,493,634...196,503,965
Ensembl chr 1:196,493,589...196,503,974 		JBrowse link
G Tdrd7 tudor domain containing 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital cataract		 CTD
ClinVar		 PMID:21436445 NCBI chr 5:60,238,742...60,312,548
Ensembl chr 5:60,238,678...60,312,544 		JBrowse link
G Tp53 tumor protein p53 ISO RGD PMID:21504908 RGD:8547757 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 ISS OMIM:601371 MouseDO NCBI chr 1:219,673,200...220,557,610
Ensembl chr 1:219,672,892...220,560,717 		JBrowse link
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Cataract ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:116,335,308...116,353,332
Ensembl chr  X:116,335,308...116,353,236 		JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital cataract		 CTD
ClinVar		 PMID:19126778 PMID:26694549 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISS OMIM:601371 MouseDO NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein onset IMP
ISO		 ClinVar Annotator: match by term: Congenital cataract ClinVar
RGD		 PMID:25741868 PMID:28860598 RGD:149735331 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		JBrowse link
G Wfs1em1Ptsn wolframin ER transmembrane glycoprotein; ZFN induced mutant 1 onset IMP RGD PMID:28860598 RGD:149735331
G Xdh xanthine dehydrogenase treatment IEP
ISO		 ClinVar Annotator: match by term: Cataract ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:30755392 PMID:25860848 RGD:13208958 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 ISO associated with Radiation Injuries RGD PMID:18334943 RGD:10401127 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
cataract 1 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 2:184,711,975...184,733,067
Ensembl chr 2:184,711,619...184,733,017 		JBrowse link
G Bcl9 BCL9, transcription coactivator ISO ClinVar Annotator: match by term: Cataract 1 multiple types ClinVar PMID:17601931 PMID:23720739 PMID:23772370 PMID:28492532 NCBI chr 2:184,760,616...184,846,261
Ensembl chr 2:184,760,618...184,786,435 		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 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595 		JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Zonular Pulverulent Cataract ClinVar NCBI chr15:31,181,360...31,206,820
Ensembl chr15:31,181,369...31,206,810 		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 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952 		JBrowse link
G Gja8 gap junction protein, alpha 8 ISO
ISS
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
OMIM:116200
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.L7Q(rat)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9497259 PMID:10362609 PMID:10480374 PMID:11846744 PMID:12800976 More... RGD:2293186 NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456 		JBrowse link
G Gja8m1Cub gap junction protein, alpha 8; mutant 1 Cub IAGP RGD PMID:18470322 RGD:2293186
cataract 10 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba1 crystallin, beta A1 ISO
ISS		 ClinVar Annotator: match by term: Cataract 10 multiple types
OMIM:600881
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:170T>A(mouse)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:9788845 PMID:11006214 PMID:14598164 PMID:14693780 More... RGD:734831 NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726 		JBrowse link
cataract 11 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Cataract 11 multiple types | ClinVar Annotator: match by term: Cataract 11, posterior polar | ClinVar Annotator: match by term: PITX3-related condition ClinVar PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:16565358 More... NCBI chr 1:245,018,535...245,147,052
Ensembl chr 1:245,018,568...245,147,042 		JBrowse link
G Pitx3 paired-like homeodomain 3 ISO ClinVar Annotator: match by term: Cataract 11 multiple types | ClinVar Annotator: match by term: Cataract 11, posterior polar | 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 chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892 		JBrowse link
cataract 12 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bfsp2 beaded filament structural protein 2 ISO ClinVar Annotator: match by term: 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 8:104,006,226...104,063,399
Ensembl chr 8:104,006,226...104,063,399 		JBrowse link
cataract 13 with adult i phenotype term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C17h6orf52 similar to human chromosome 6 open reading frame 52 ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr17:23,753,359...23,776,251
Ensembl chr17:23,762,746...23,776,245 		JBrowse link
G Gcm2 glial cells missing transcription factor 2 ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr17:23,652,637...23,661,754
Ensembl chr17:23,652,637...23,661,754 		JBrowse link
G Gcnt2 glucosaminyl (N-acetyl) transferase 2 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11739194 PMID:12424189 PMID:12468428 PMID:15161861 More... NCBI chr17:23,796,859...23,901,625
Ensembl chr17:23,796,859...23,901,611 		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 chr17:23,683,753...23,731,125
Ensembl chr17:23,693,878...23,730,001 		JBrowse link
G Pak1ip1 PAK1 interacting protein 1 ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr17:23,742,217...23,753,325
Ensembl chr17:23,741,414...23,753,324 		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 chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507 		JBrowse link
G Tmem14c transmembrane protein 14C ISO ClinVar Annotator: match by term: Cataract 13 with adult I phenotype ClinVar PMID:28492532 NCBI chr17:23,733,769...23,739,906
Ensembl chr17:23,733,894...23,753,320 		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 chr15:31,427,011...31,545,997
Ensembl chr15:31,427,054...31,545,997 		JBrowse link
G Eef1akmt1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr15:31,694,284...31,711,367
Ensembl chr15:31,694,292...31,711,336 		JBrowse link
G Gja3 gap junction protein, alpha 3 ISO
ISS		 ClinVar Annotator: match by term: Cataract 14 multiple types | ClinVar Annotator: match by term: Zonular pulverulent cataract 3
OMIM:601885
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:10205266 PMID:10746562 PMID:15208569 PMID:15286166 PMID:15448617 More... NCBI chr15:31,181,360...31,206,820
Ensembl chr15:31,181,369...31,206,810 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		JBrowse link
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr15:31,284,561...31,294,552
Ensembl chr15:31,284,419...31,294,582 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147 		JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr15:31,671,337...31,688,833 JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Cataract 14 multiple types ClinVar PMID:28492532 NCBI chr15:31,717,016...31,807,723
Ensembl chr15:31,716,762...31,807,908 		JBrowse link
cataract 15 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mip major intrinsic protein of lens fiber ISO
ISS		 ClinVar Annotator: match by term: Cataract 15 multiple types | ClinVar Annotator: match by term: MIP-related condition
OMIM:615274
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:3456204 PMID:9536098 PMID:10802646 PMID:10937580 PMID:16199547 More... NCBI chr 7:643,502...653,121
Ensembl chr 7:647,315...654,400 		JBrowse link
cataract 16 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Cataract 16 multiple types ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
G Cryab crystallin, alpha B ISO
ISS		 ClinVar Annotator: match by term: CATARACT, CONGENITAL LAMELLAR | ClinVar Annotator: match by term: Cataract 16 multiple types
OMIM:613763
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1560021 PMID:2299599 PMID:11013455 PMID:11577372 PMID:16483541 More... NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157 		JBrowse link
cataract 17 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba4 crystallin, beta A4 ISO ClinVar Annotator: match by term: Cataract 17 multiple types ClinVar PMID:9536098 PMID:12360425 PMID:16110300 PMID:17460281 PMID:17576681 More... NCBI chr12:44,378,734...44,393,226
Ensembl chr12:44,378,737...44,393,221 		JBrowse link
G Crybb1 crystallin, beta B1 ISO ClinVar Annotator: match by term: Cataract 17 multiple types
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12360425 PMID:16110300 PMID:17460281 PMID:17576681 More... NCBI chr12:44,369,734...44,383,344
Ensembl chr12:44,369,735...44,383,344 		JBrowse link
cataract 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 ISO CTD Direct Evidence: marker/mechanism
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 8:123,412,105...123,479,315
Ensembl chr 8:123,412,112...123,479,021 		JBrowse link
cataract 19 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lim2 lens intrinsic membrane protein 2 ISO
ISS		 ClinVar Annotator: match by term: Cataract 19 multiple types
OMIM:615277
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:11917274 PMID:18596884 PMID:21386927 PMID:25741868 PMID:28492532 More... NCBI chr 1:93,837,597...93,843,769
Ensembl chr 1:93,837,597...93,843,769 		JBrowse link
cataract 2 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crygc crystallin, gamma C ISO
ISS		 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
OMIM:604307
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8004095 PMID:8190472 PMID:10521291 PMID:10914683 PMID:12011157 More... NCBI chr 9:66,451,591...66,453,626
Ensembl chr 9:66,451,593...66,453,626 		JBrowse link
G Crygd crystallin, gamma D ISS OMIM:604307 MouseDO NCBI chr 9:66,442,057...66,443,668
Ensembl chr 9:66,442,054...66,444,067 		JBrowse link
cataract 20 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crygs crystallin, gamma S ISO
ISS		 ClinVar Annotator: match by term: Cataract 20 multiple types
OMIM:116100
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16141006 PMID:17576681 PMID:18587492 PMID:19262743 More... NCBI chr11:78,207,170...78,212,273
Ensembl chr11:78,207,170...78,212,273 		JBrowse link
cataract 21 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dynlrb2 dynein light chain roadblock-type 2 ISO ClinVar Annotator: match by term: Cataract 21 multiple types ClinVar PMID:28492532 NCBI chr19:44,520,134...44,531,384
Ensembl chr19:44,520,134...44,531,387 		JBrowse link
G Maf MAF bZIP transcription factor ISO
ISS		 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
OMIM:610202
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:11772997 PMID:12620964 PMID:16470690 PMID:17982426 PMID:22345400 More... NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365 		JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Cataract 21 multiple types ClinVar PMID:28492532 NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391 		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 chr12:43,557,103...43,562,120
Ensembl chr12:43,557,103...43,562,120 		JBrowse link
cataract 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asphd2 aspartate beta-hydroxylase domain containing 2 ISO ClinVar Annotator: match by term: Cataract 23 ClinVar PMID:28492532 NCBI chr12:44,248,132...44,258,653
Ensembl chr12:44,248,145...44,257,772 		JBrowse link
G Cryba4 crystallin, beta A4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract 23 | ClinVar Annotator: match by term: Cataract 23, multiple types		 OMIM
CTD
ClinVar		 PMID:15452067 PMID:16199547 PMID:16960806 PMID:20577656 PMID:24968223 More... NCBI chr12:44,378,734...44,393,226
Ensembl chr12:44,378,737...44,393,221 		JBrowse link
G Crybb1 crystallin, beta B1 ISO ClinVar Annotator: match by term: Cataract 23 ClinVar PMID:28492532 NCBI chr12:44,369,734...44,383,344
Ensembl chr12:44,369,735...44,383,344 		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 chr12:44,264,037...44,294,791
Ensembl chr12:44,264,037...44,294,632 		JBrowse link
G Myo18b myosin XVIIIb ISO ClinVar Annotator: match by term: Cataract 23 ClinVar PMID:28492532 NCBI chr12:43,747,003...43,953,694
Ensembl chr12:43,747,010...43,953,695 		JBrowse link
G Sez6l seizure related 6 homolog like ISO ClinVar Annotator: match by term: Cataract 23 ClinVar PMID:28492532 NCBI chr12:44,064,901...44,221,814
Ensembl chr12:44,064,935...44,219,663 		JBrowse link
G Srrd SRR1 domain containing ISO ClinVar Annotator: match by term: Cataract 23 ClinVar PMID:28492532 NCBI chr12:44,294,675...44,300,287
Ensembl chr12:44,294,271...44,300,287 		JBrowse link
G Tfip11 tuftelin interacting protein 11 ISO ClinVar Annotator: match by term: Cataract 23 ClinVar PMID:28492532 NCBI chr12:44,299,619...44,311,851
Ensembl chr12:44,299,622...44,311,855 		JBrowse link
G Tpst2 tyrosylprotein sulfotransferase 2 ISO ClinVar Annotator: match by term: Cataract 23 ClinVar PMID:28492532 NCBI chr12:44,321,875...44,363,892
Ensembl chr12:44,321,875...44,362,329 		JBrowse link
cataract 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja8 gap junction protein, alpha 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14627691 NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456 		JBrowse link
G Pax6 paired box 6 ISO associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human) RGD PMID:22393272 RGD:8552277 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
cataract 3 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crybb2 crystallin, beta B2 ISO
ISS		 ClinVar Annotator: match by term: CATARACT 3, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 3 multiple types
OMIM:601547
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2240043 PMID:8812489 PMID:9158139 PMID:9536098 PMID:10634616 More... NCBI chr12:43,569,747...43,579,671
Ensembl chr12:43,569,747...43,579,671 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Cataract 3 multiple types ClinVar PMID:25741868 NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291 		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 9:66,451,591...66,453,626
Ensembl chr 9:66,451,593...66,453,626 		JBrowse link
G Vim vimentin ISO
ISS		 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 chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187 		JBrowse link
cataract 31 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chmp4b charged multivesicular body protein 4B ISO ClinVar Annotator: match by term: Cataract 31 multiple types
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10682967 PMID:17701905 PMID:25741868 PMID:28492532 NCBI chr 3:143,170,859...143,211,376
Ensembl chr 3:143,170,902...143,210,844 		JBrowse link
cataract 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bfsp1 beaded filament structural protein 1 ISO 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 3:131,195,087...131,252,668
Ensembl chr 3:131,195,087...131,229,337 		JBrowse link
G Esr1 estrogen receptor 1 ISO RGD PMID:12082175 RGD:734947 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Pcsk2 proprotein convertase subtilisin/kexin type 2 ISO ClinVar Annotator: match by term: Cataract 33 ClinVar PMID:28492532 NCBI chr 3:130,880,422...131,183,127
Ensembl chr 3:130,880,422...131,183,127 		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 5:128,444,912...128,446,494
Ensembl chr 5:128,445,594...128,446,454 		JBrowse link
cataract 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdrd7 tudor domain containing 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract 36 | ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 4		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28418495 PMID:28492532 NCBI chr 5:60,238,742...60,312,548
Ensembl chr 5:60,238,678...60,312,544 		JBrowse link
cataract 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agk acylglycerol kinase ISO ClinVar Annotator: match by term: AGK-Related Disorders | ClinVar Annotator: match by term: CATARACT 38 | ClinVar Annotator: match by term: Cataract 38 | ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:22277967 PMID:22415731 PMID:24088041 More... NCBI chr 4:69,114,850...69,193,989
Ensembl chr 4:69,114,269...69,193,934 		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
ISS		 OMIM:615188
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract 39 multiple types		 OMIM
MouseDO
CTD
ClinVar		 PMID:23288985 PMID:25741868 PMID:28492532 NCBI chr 9:66,461,460...66,463,520
Ensembl chr 9:66,461,460...66,463,520 		JBrowse link
cataract 4 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crygd crystallin, gamma D ISO
ISS		 ClinVar Annotator: match by term: Cataract 4 | ClinVar Annotator: match by term: Cataract 4 multiple types
OMIM:115700
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9927684 PMID:10521291 PMID:10688888 PMID:10915766 PMID:11371638 More... NCBI chr 9:66,442,057...66,443,668
Ensembl chr 9:66,442,054...66,444,067 		JBrowse link
cataract 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhs NHS actin remodeling regulator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract 40		 OMIM
CTD
ClinVar		 PMID:19414485 PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:32,553,300...32,892,961
Ensembl chr  X:32,552,026...32,889,992 		JBrowse link
cataract 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: CATARACT 41, CONGENITAL NUCLEAR TYPE | ClinVar Annotator: match by term: Cataract 41
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 More... NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		JBrowse link
cataract 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba2 crystallin, beta A2 ISO ClinVar Annotator: match by term: CRYBA2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 NCBI chr 9:76,447,250...76,457,968
Ensembl chr 9:76,447,251...76,450,460 		JBrowse link
cataract 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc45b unc-45 myosin chaperone B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract 43		 OMIM
CTD
ClinVar		 PMID:24549050 PMID:25741868 NCBI chr10:67,845,464...67,873,143
Ensembl chr10:67,845,462...67,873,389 		JBrowse link
cataract 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lss lanosterol synthase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract 44		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762 		JBrowse link
cataract 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sipa1l3 signal-induced proliferation-associated 1 like 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract 45		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:25804400 PMID:28492532 NCBI chr 1:84,618,714...84,825,956
Ensembl chr 1:84,618,719...84,703,802 		JBrowse link
cataract 46 juvenile-onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lemd2 LEM domain nuclear envelope protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract 46 juvenile-onset		 OMIM
CTD
ClinVar		 PMID:4061486 PMID:23806086 PMID:23863954 PMID:24088041 PMID:26788539 More... NCBI chr20:5,282,397...5,296,621
Ensembl chr20:5,282,397...5,296,626 		JBrowse link
cataract 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a12 solute carrier family 16, member 12 ISO 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 chr 1:232,184,004...232,262,170
Ensembl chr 1:232,185,907...232,262,141 		JBrowse link
cataract 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmbp dynamin binding protein ISO ClinVar Annotator: match by term: Cataract 48 OMIM
ClinVar		 PMID:25741868 PMID:30290152 NCBI chr 1:242,736,189...242,829,431
Ensembl chr 1:242,736,189...242,802,604 		JBrowse link
Cataract 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Cataract 49 OMIM
ClinVar		 PMID:25741868 PMID:30585370 NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135 		JBrowse link
cataract 5 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr19:33,129,740...33,134,048
Ensembl chr19:33,128,142...33,132,344 		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 chr19:739,551...786,395
Ensembl chr19:739,551...787,537 		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 chr19:429,063...438,478
Ensembl chr19:429,075...438,467 		JBrowse link
G Cbfb core-binding factor subunit beta ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr19:33,049,162...33,092,752
Ensembl chr19:33,049,172...33,092,751 		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 chr19:360,824...371,008
Ensembl chr19:360,824...371,007 		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 chr19:815,415...854,478
Ensembl chr19:815,411...854,368 		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 chr19:32,974,242...32,988,842
Ensembl chr19:32,974,242...32,988,830 		JBrowse link
G Ces3a carboxylesterase 3a ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr19:32,992,386...33,000,562 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 chr19:33,011,731...33,030,119
Ensembl chr19:33,011,731...33,029,545 		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 chr19:344,194...346,068
Ensembl chr19:344,203...346,068 		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 chr19:698,097...706,570
Ensembl chr19:698,033...706,570 		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 chr19:651,641...661,184
Ensembl chr19:651,644...661,184 		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 chr19:640,838...651,872
Ensembl chr19:640,824...651,939 		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 chr19:622,563...630,721
Ensembl chr19:604,458...629,790 		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 chr19:576,203...616,109
Ensembl chr19:576,203...616,109 		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 chr19:531,783...554,670
Ensembl chr19:531,812...554,670 		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:28492532 NCBI chr19:33,142,705...33,147,266
Ensembl chr19:33,142,715...33,147,262 		JBrowse link
G Hsf4 heat shock transcription factor 4 ISO
ISS		 ClinVar Annotator: match by term: CATARACT, MARNER TYPE | ClinVar Annotator: match by term: Cataract 5 multiple types | ClinVar Annotator: match by term: Lamellar cataract
OMIM:116800
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:3233780 PMID:9536098 PMID:12089525 PMID:15959809 PMID:16199547 More... NCBI chr19:33,147,755...33,153,479
Ensembl chr19:33,147,755...33,153,479 		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 chr19:446,015...472,145
Ensembl chr19:446,000...472,371 		JBrowse link
G Nol3 nucleolar protein 3 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr19:33,154,061...33,158,250
Ensembl chr19:33,154,062...33,158,250 		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 chr19:386,408...394,068
Ensembl chr19:386,406...394,074 		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 chr19:33,101,453...33,138,920
Ensembl chr19:33,101,490...33,138,914 		JBrowse link
G Rrad RRAD, Ras related glycolysis inhibitor and calcium channel regulator ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr19:354,184...357,424
Ensembl chr19:354,198...357,417 		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 chr19:473,720...528,069
Ensembl chr19:473,218...528,084 		JBrowse link
G Tk2 thymidine kinase 2 ISO ClinVar Annotator: match by term: Cataract 5 multiple types ClinVar PMID:15959809 PMID:20421844 PMID:23329665 PMID:28492532 NCBI chr19:708,859...731,786
Ensembl chr19:708,891...730,924 		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 chr19:33,136,148...33,142,714
Ensembl chr19:33,136,138...33,142,638 		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 ClinVar
OMIM		 PMID:25090642 NCBI chr 1:219,673,200...220,557,610
Ensembl chr 1:219,672,892...220,560,717 		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 5:153,536,038...153,554,203
Ensembl chr 5:153,536,013...153,554,203 		JBrowse link
G Epha2 Eph receptor A2 ISO
ISS		 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:12167657 PMID:15965161 PMID:16051609 PMID:16199547 More... NCBI chr 5:153,605,644...153,634,115
Ensembl chr 5:153,605,644...153,634,117 		JBrowse link
cataract 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crybb2 crystallin, beta B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9158139 NCBI chr12:43,569,747...43,579,671
Ensembl chr12:43,569,747...43,579,671 		JBrowse link
G Crygd crystallin, gamma D susceptibility ISO DNA:transversion:exon:p.P23T (human) RGD PMID:12676897 RGD:1601016 NCBI chr 9:66,442,057...66,443,668
Ensembl chr 9:66,442,054...66,444,067 		JBrowse link
cataract 9 multiple types term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg1 ATP binding cassette subfamily G member 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,126,687...9,182,948
Ensembl chr20:9,126,687...9,182,948 		JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852 		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 chr20:10,330,960...10,415,358
Ensembl chr20:10,384,507...10,415,358 		JBrowse link
G Aire autoimmune regulator ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060 		JBrowse link
G C20h21orf58 similar to human chromosome 21 open reading frame 58 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:12,167,279...12,188,665
Ensembl chr20:12,175,442...12,187,017 		JBrowse link
G C2cd2 C2 calcium-dependent domain containing 2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr11:37,225,321...37,289,741
Ensembl chr11:37,227,415...37,289,739 		JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
G Cryaa crystallin, alpha A ISO
ISS		 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
OMIM:604219
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9467006 PMID:10684623 PMID:11006246 PMID:11123904 PMID:12601044 More... NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349 		JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526 		JBrowse link
G Dnmt3l DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,614,933...10,629,337
Ensembl chr20:10,614,934...10,629,516 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
G Gatd3a glutamine amidotransferase class 1 domain containing 3A ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,514,793...10,522,894
Ensembl chr20:10,514,744...10,522,885 		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 chr20:10,035,562...10,123,059
Ensembl chr20:10,035,562...10,121,242 		JBrowse link
G Icoslg inducible T-cell co-stimulator ligand ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,600,420...10,610,718
Ensembl chr20:10,600,420...10,610,703 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600 		JBrowse link
G Krtap10-1 keratin associated protein 10-1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,880,524...10,881,445
Ensembl chr20:10,855,181...10,864,362 		JBrowse link
G Krtap10-10 keratin associated protein 10-10 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,854,951...10,864,402 JBrowse link
G Krtap10-2 keratin associated protein 10-2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,888,588...10,889,386 JBrowse link
G Krtap10-8 keratin associated protein 10-8 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,871,991...10,872,927
Ensembl chr20:10,871,991...10,872,844 		JBrowse link
G Krtap10-9 keratin associated protein 10-9 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,939,609...10,940,526
Ensembl chr20:10,939,609...10,940,526 		JBrowse link
G Krtap12-1 keratin associated protein 12-1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,917,340...10,917,949 JBrowse link
G Krtap12-2 keratin associated protein 12-2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,904,422...10,904,751 JBrowse link
G Krtap12-4 keratin associated protein 12-4 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,910,350...10,910,682 JBrowse link
G Lrrc3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,758,919...10,763,736
Ensembl chr20:10,758,955...10,762,067 		JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762 		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 chr20:12,127,570...12,165,165
Ensembl chr20:12,127,570...12,165,165 		JBrowse link
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,612,462...9,621,622
Ensembl chr20:9,612,431...9,623,074
Ensembl chr13:9,612,431...9,623,074 		JBrowse link
G Pcbp3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:11,678,218...11,878,210
Ensembl chr20:11,678,269...11,878,210 		JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710 		JBrowse link
G Pde9a phosphodiesterase 9A ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948 		JBrowse link
G Pfkl phosphofructokinase, liver type ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315 		JBrowse link
G Pitx3 paired-like homeodomain 3 ISO DNA:missense mutation, insertion:cds:p.S13N, G219fsX226 (human) RGD PMID:9620774 RGD:737764 NCBI chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892 		JBrowse link
G Pknox1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,662,866...9,705,030
Ensembl chr20:9,662,899...9,703,727 		JBrowse link
G Pofut2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:11,367,073...11,377,788
Ensembl chr20:11,367,096...11,377,743 		JBrowse link
G Prdm15 PR/SET domain 15 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr11:37,164,608...37,225,172
Ensembl chr11:37,165,575...37,222,207 		JBrowse link
G Pttg1ip PTTG1 interacting protein ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:11,030,013...11,047,742
Ensembl chr20:11,030,015...11,047,316 		JBrowse link
G Pwp2 PWP2, small subunit processome component ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,499,332...10,512,965
Ensembl chr20:10,499,363...10,513,640 		JBrowse link
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799 		JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,260,892...10,272,141
Ensembl chr20:10,260,870...10,272,144 		JBrowse link
G Rrp1b ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,123,111...10,148,704
Ensembl chr20:10,123,125...10,147,928 		JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640 		JBrowse link
G Sik1 salt-inducible kinase 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972 		JBrowse link
G Slc37a1 solute carrier family 37 member 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,360,501...9,433,895
Ensembl chr20:9,378,836...9,433,892 		JBrowse link
G Slx9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:11,114,632...11,147,532
Ensembl chr20:11,114,589...11,147,521 		JBrowse link
G Spatc1l spermatogenesis and centriole associated 1-like ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:12,074,040...12,083,873
Ensembl chr20:12,074,047...12,083,301 		JBrowse link
G Sumo3 small ubiquitin-like modifier 3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:11,010,140...11,020,850
Ensembl chr20:11,007,148...11,020,877
Ensembl chr20:11,007,148...11,020,877 		JBrowse link
G Tff1 trefoil factor 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597 		JBrowse link
G Tff2 trefoil factor 2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,215,750...9,219,619
Ensembl chr20:9,215,761...9,219,619 		JBrowse link
G Tff3 trefoil factor 3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054 		JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363 		JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074 		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 chr20:10,703,568...10,753,189
Ensembl chr20:10,707,014...10,753,181 		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 chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914 		JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832 		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 chr20:9,291,471...9,334,685
Ensembl chr20:9,292,139...9,329,224 		JBrowse link
G Ube2g2 ubiquitin-conjugating enzyme E2G 2 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:10,983,734...11,005,468
Ensembl chr20:10,983,742...11,005,447 		JBrowse link
G Umodl1 uromodulin-like 1 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,027,751...9,087,133
Ensembl chr20:9,025,724...9,087,146 		JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581 		JBrowse link
G Ybey ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: Cataract 9 multiple types ClinVar PMID:28492532 NCBI chr20:12,165,192...12,174,713
Ensembl chr20:12,165,237...12,174,713 		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 chr11:37,312,337...37,327,040
Ensembl chr11:37,312,378...37,326,996 		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:16604058 PMID:18334946 PMID:19684000 PMID:21228318 PMID:21686328 More... NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456 		JBrowse link
G Maf MAF bZIP transcription factor ISO DNA:missense mutations: :p.R299S (c.895C>A), p.K320E (c.958A>G) (human) RGD PMID:19182255 RGD:13204740 NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365 		JBrowse link
Cataract, Autosomal Dominant Nuclear term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba1 crystallin, beta A1 ISO DNA:deletion:exon:c.279_281delGAG, p.G91del(human)
DNA:splice-site mutaion:intron: IVS3+2 T>G (human)		 RGD PMID:21686330 PMID:22665976 RGD:10059633, RGD:10059638 NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726 		JBrowse link
G Gja3 gap junction protein, alpha 3 ISO DNA:missense mutation:cds:p.N188T (human) RGD PMID:15448617 RGD:1578473 NCBI chr15:31,181,360...31,206,820
Ensembl chr15:31,181,369...31,206,810 		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 chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349 		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:19390652 More... NCBI chr 9:66,442,057...66,443,668
Ensembl chr 9:66,442,054...66,444,067 		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 chr12:44,378,734...44,393,226
Ensembl chr12:44,378,737...44,393,221 		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 chr12:43,569,747...43,579,671
Ensembl chr12:43,569,747...43,579,671 		JBrowse link
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		 OMIM
CTD
ClinVar		 PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 More... NCBI chr13:96,831,484...96,865,518
Ensembl chr13:96,831,484...96,865,501 		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 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 ClinVar
OMIM		 PMID:32554502
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 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942 		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 1:167,644,622...167,705,868
Ensembl chr 1:167,644,677...167,705,730 		JBrowse link
cerebrooculofacioskeletal syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO DNA:missense mutations:p.R616W, p.D681N (human)
ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:3341805 PMID:7585650 PMID:7825573 PMID:7920640 PMID:8571952 More... RGD:1601070 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Klc3 kinesin light chain 3 ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 2 ClinVar PMID:25741868 NCBI chr 1:79,045,842...79,055,809
Ensembl chr 1:79,045,844...79,055,416 		JBrowse link
cerebrooculofacioskeletal syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO 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 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Polr1g RNA polymerase I subunit G ISO ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 4 ClinVar PMID:25741868 PMID:28492532 PMID:33116287 NCBI chr 1:79,007,490...79,010,766
Ensembl chr 1:79,007,490...79,010,766 		JBrowse link
congenital aphakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cmpk1 cytidine/uridine monophosphate kinase 1 ISO ClinVar Annotator: match by term: Congenital primary aphakia ClinVar PMID:28492532 NCBI chr 5:128,480,301...128,507,830
Ensembl chr 5:128,480,301...128,507,830 		JBrowse link
G Foxe3 forkhead box E3 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital primary aphakia
OMIM:610256		 CTD
ClinVar
MouseDO		 PMID:3550563 PMID:11159941 PMID:11980846 PMID:16826526 PMID:17893665 More... NCBI chr 5:128,444,912...128,446,494
Ensembl chr 5:128,445,594...128,446,454 		JBrowse link
G Stil STIL, centriolar assembly protein ISO ClinVar Annotator: match by term: Congenital primary aphakia ClinVar PMID:28492532 NCBI chr 5:128,520,837...128,573,732
Ensembl chr 5:128,520,953...128,573,730 		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 chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457 		JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Congenital Cataracts, Facial Dysmorphism, and Neuropathy ClinVar PMID:25741868 NCBI chr15:31,181,360...31,206,820
Ensembl chr15:31,181,369...31,206,810 		JBrowse link
Congenital Cataracts, Hearing Loss, and Neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Huppke-Brendel syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15902551 PMID:22243965 PMID:22508683 PMID:25741868 PMID:27306358 More... NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758 		JBrowse link
congenital muscular dystrophy with cataracts and intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inpp5k inositol polyphosphate-5-phosphatase K ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital muscular dystrophy with cataracts and intellectual disability		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28190456 PMID:28190459 PMID:28492532 PMID:33792664 NCBI chr10:60,474,262...60,495,813
Ensembl chr10:60,475,897...60,496,773 		JBrowse link
cortical senile cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epha2 Eph receptor A2 ISO ClinVar Annotator: match by term: Cortical senile cataract ClinVar PMID:19649315 PMID:20625407 PMID:22645087 PMID:22829731 PMID:23447127 More... NCBI chr 5:153,605,644...153,634,115
Ensembl chr 5:153,605,644...153,634,117 		JBrowse link
Craniosynostosis with Ectopia Lentis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Craniosynostosis with ectopia lentis ClinVar PMID:2056446 PMID:9536098 PMID:17576681 PMID:20564469 PMID:20702823 More... NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848 		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 9:66,442,057...66,443,668
Ensembl chr 9:66,442,054...66,444,067 		JBrowse link
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmc3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Deafness, cataract, impaired intellectual development, and polyneuropathy ClinVar
OMIM		 PMID:32500975 NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358 		JBrowse link
diabetic cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsr glutathione-disulfide reductase ISO RGD PMID:12518238 RGD:10401829 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
Ectopia Lentis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Ectopia lentis ClinVar PMID:2056446 PMID:20564469 PMID:20702823 PMID:21051722 PMID:22736615 More... NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848 		JBrowse link
G Fbn1 fibrillin 1 ISO DNA:missense mutation:cds:p.R240C (human)
ClinVar Annotator: match by term: Ectopia lentis
DNA:missense mutation:exon:p.C587R (c.1759T>C) (human)
DNA:missense mutation:exon:p.R62C (c.184C>T) (human)
DNA:missense mutation:exon:p.G214S (G640G>A) (human)
DNA:missense mutation:exon:p.Y754C (c.2262A>G) (human)
DNA:missense mutation:exon:p.C102Y (c.305G>A) (human)
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:7611299 PMID:7870075 PMID:8653794 PMID:8723076 PMID:8894692 More... RGD:1580380, RGD:12910481, RGD:12910479, RGD:12910140, RGD:12910138, RGD:12904906, RGD:1300363 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO RGD PMID:33039488 RGD:156431213 NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
ectopia lentis with ectopia of pupil term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Ectopia lentis et pupillae
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2056446 PMID:9536098 PMID:17576681 PMID:20564469 PMID:20702823 More... NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848 		JBrowse link
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asph aspartate-beta-hydroxylase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | ClinVar Annotator: match by term: TRABOULSI SYNDROME		 OMIM
CTD
ClinVar		 PMID:11241487 PMID:23687502 PMID:24768550 PMID:25741868 PMID:28492532 More... NCBI chr 5:22,601,581...22,814,107
Ensembl chr 5:22,603,486...22,813,876 		JBrowse link
EDICT Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir184 microRNA 184 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EDICT syndrome		 OMIM
CTD
ClinVar		 PMID:11874753 PMID:14638698 PMID:21996275 PMID:22131394 NCBI chr 8:90,343,134...90,343,210
Ensembl chr 8:90,343,134...90,343,210 		JBrowse link
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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome		 OMIM
CTD
ClinVar		 PMID:11739396 PMID:18211975 PMID:18237401 PMID:25356970 PMID:25741868 More... NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		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 binding protein ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:25741868 NCBI chr 9:93,948,099...94,018,040
Ensembl chr 9:93,949,913...94,018,048 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:22162478 PMID:25741868 NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:25741868 NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226 		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 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243 		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 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jam3 junctional adhesion molecule 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts		 OMIM
CTD
ClinVar		 PMID:21109224 PMID:23255084 PMID:25741868 PMID:25741869 PMID:28492532 More... NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355 		JBrowse link
hereditary spastic paraplegia 9A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: 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:21739576 PMID:24913064 More... RGD:11056004 NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890 		JBrowse link
High Myopia with Cataract and Vitreoretinal Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P3h2 prolyl 3-hydroxylase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degeneration | ClinVar Annotator: match by term: P3H2-related condition		 OMIM
CTD
ClinVar		 PMID:21885030 PMID:24172257 PMID:25469533 PMID:25741868 PMID:28492532 More... NCBI chr11:74,634,267...74,775,422
Ensembl chr11:74,634,267...74,775,421 		JBrowse link
hyperferritinemia-cataract syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftl1 ferritin light chain 1 ISO DNA:deletion:5' utr: (human)
ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts
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 1:95,936,387...95,938,234
Ensembl chr 1:95,936,387...95,939,725
Ensembl chr10:95,936,387...95,939,725 		JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Hereditary hyperferritinemia with congenital cataracts ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:95,915,443...95,935,292
Ensembl chr 1:95,915,443...95,935,292 		JBrowse link
hypomyelinating leukodystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 chr 6:138,793,953...138,839,889
Ensembl chr 6:138,794,228...138,839,888 		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 chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536 		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 4:11,132,224...11,239,120
Ensembl chr 4:11,132,385...11,239,113 		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 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Rapgef5 Rap guanine nucleotide exchange factor 5 ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 6:138,445,184...138,679,943
Ensembl chr 6:138,437,991...138,679,936 		JBrowse link
G Sp4 Sp4 transcription factor ISO ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More... NCBI chr 6:139,187,458...139,252,741
Ensembl chr 6:139,192,147...139,252,126 		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 4:11,305,122...11,311,963
Ensembl chr 4:11,305,110...11,311,962 		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 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900 		JBrowse link
isolated ectopia lentis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl4 ADAMTS-like 4 ISO ClinVar Annotator: match by term: Isolated ectopia lentis ClinVar PMID:19200529 PMID:20564469 PMID:22736615 PMID:24033266 PMID:25741868 More... NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Familial ectopia lentis ClinVar PMID:7802039 PMID:9399842 PMID:11700157 PMID:11826022 PMID:12203987 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six6 SIX homeobox 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus		 CTD
ClinVar		 PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548 		JBrowse link
G Six6os1 Six6 opposite strand transcript 1 ISO ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus ClinVar PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148 		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 chr12:44,378,734...44,393,226
Ensembl chr12:44,378,737...44,393,221 		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 chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917 		JBrowse link
Kahrizi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srd5a3 steroid 5 alpha-reductase 3 ISO 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 chr14:32,046,408...32,060,796
Ensembl chr14:32,046,408...32,060,747 		JBrowse link
lens subluxation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Lens subluxation ClinVar PMID:8040326 PMID:8541880 PMID:8791520 PMID:9399842 PMID:9401003 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Lens subluxation ClinVar PMID:25741868 NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507 		JBrowse link
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 2:142,761,303...142,794,767
Ensembl chr 2:142,761,416...142,795,068 		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 chr18:26,872,423...27,104,365
Ensembl chr18:26,872,429...27,104,332 		JBrowse link
Marshall syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain susceptibility ISO DNA:SNP:splice junction:
ClinVar Annotator: match by term: 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 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
G Pcdh12 protocadherin 12 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:30,103,728...30,119,307
Ensembl chr18:30,103,728...30,119,307 		JBrowse link
G Rnf14 ring finger protein 14 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:30,131,627...30,155,686
Ensembl chr18:30,131,691...30,155,685 		JBrowse link
G Rnpc3 RNA-binding region (RNP1, RRM) containing 3 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 NCBI chr 2:201,432,769...201,457,015
Ensembl chr 2:201,432,684...201,456,747 		JBrowse link
Marshall/Stickler Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Marshall/Stickler syndrome ClinVar PMID:1536174 PMID:10486316 NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
Martsolf Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr13:96,865,634...96,893,506
Ensembl chr13:96,868,580...96,893,503 		JBrowse link
G C13h1orf115 similar to human chromosome 1 open reading frame 115 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr13:96,422,308...96,432,044
Ensembl chr13:96,422,302...96,432,068 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966 		JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr13:96,831,484...96,865,518
Ensembl chr13:96,831,484...96,865,501 		JBrowse link
G Lyplal1 lysophospholipase-like 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr13:97,626,568...97,657,901
Ensembl chr13:97,626,451...97,657,867 		JBrowse link
G Mark1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr13:96,450,189...96,555,304
Ensembl chr13:96,451,487...96,555,173 		JBrowse link
G Mir194-1 microRNA 194-1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr13:96,851,166...96,851,248
Ensembl chr13:96,851,166...96,851,248 		JBrowse link
G Mtarc1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr13:96,324,377...96,362,677
Ensembl chr13:96,339,757...96,397,796 		JBrowse link
G Mtarc2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr13:96,362,810...96,397,284 JBrowse link
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:29300443 NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169 		JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Cataract mental retardation hypogonadism | ClinVar Annotator: match by term: Martsolf syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16532399 PMID:17576681 PMID:18414213 More... NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478 		JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520 PMID:28492532 NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
Martsolf syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anos1 anosmin 1 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:11044805 PMID:15001591 PMID:25077900 PMID:25741868 NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801 		JBrowse link
G Arhgap35 Rho GTPase activating protein 35 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr 1:77,202,436...77,319,298
Ensembl chr 1:77,202,436...77,319,298 		JBrowse link
G Arhgap5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr 6:69,975,904...70,039,299
Ensembl chr 6:69,976,214...70,037,660 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Igsf10 immunoglobulin superfamily, member 10 ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr 2:143,575,710...143,605,044
Ensembl chr 2:143,576,070...143,604,773 		JBrowse link
G Klb klotho beta ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr14:42,899,050...42,950,788
Ensembl chr14:42,899,510...42,950,799 		JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic 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 chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478 		JBrowse link
G Sema3a semaphorin 3A ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:22927827 PMID:25741868 NCBI chr 4:21,282,398...21,754,834
Ensembl chr 4:21,287,982...21,494,432 		JBrowse link
G Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Martsolf syndrome 1 ClinVar PMID:25741868 NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243 		JBrowse link
Martsolf Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Martsolf syndrome 2 OMIM
ClinVar		 PMID:23420520 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29300443 More... NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169 		JBrowse link
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcna4 potassium voltage-gated channel subfamily A member 4 ISO ClinVar Annotator: match by term: Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum OMIM
ClinVar		 PMID:23181898 PMID:25741868 PMID:27582084 NCBI chr 3:93,756,399...93,778,004
Ensembl chr 3:93,756,446...93,769,162 		JBrowse link
Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msmo1 methylsterol monooxygenase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microcephaly, congenital cataract, and psoriasiform dermatitis		 OMIM
CTD
ClinVar		 PMID:21285510 PMID:24144731 NCBI chr16:24,980,680...24,997,927
Ensembl chr16:24,980,697...24,998,016 		JBrowse link
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl2 ADP-ribosylation factor like GTPase 2 ISO ClinVar Annotator: match by term: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 OMIM
ClinVar		 PMID:30945270 NCBI chr 1:203,434,129...203,446,156
Ensembl chr 1:203,434,129...203,446,119 		JBrowse link
Microphthalmia, Cataracts, and Iris Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 ISO RGD PMID:20735985 RGD:12880033 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Microphthalmia, cataracts, and iris abnormalities ClinVar PMID:10932181 PMID:11341888 PMID:17661825 PMID:23028343 PMID:25741868 More... NCBI chr 6:104,214,842...104,240,264
Ensembl chr 6:104,217,230...104,240,018 		JBrowse link
Microspherophakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO DNA:frameshift mutation:CDS:p.H1816PfsX28 (human)
ClinVar Annotator: match by term: Microspherophakia		 ClinVar
RGD		 PMID:19361779 PMID:19656777 PMID:20179738 PMID:20617341 PMID:21081970 More... RGD:156451653 NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19361779 PMID:19656777 PMID:20179738 PMID:21081970 PMID:22025892 More... NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208 		JBrowse link
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED | ClinVar Annotator: match by term: Myopathy with cataract and combined respiratory-chain deficiency | ClinVar Annotator: match by term: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8627443 PMID:16199547 PMID:18414213 PMID:19409522 PMID:20593814 More... NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts ClinVar PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 More... NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
myofibrillar myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryab crystallin, alpha B ISO
ISS		 ClinVar Annotator: match by term: Myofibrillar myopathy 2
OMIM:608810
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:570292 PMID:8000975 PMID:9731540 PMID:11013455 PMID:12601044 More... NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157 		JBrowse link
Nance-Horan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg2 adhesion G protein-coupled receptor G2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:34,297,402...34,422,590
Ensembl chr  X:34,297,402...34,422,609 		JBrowse link
G Bclaf3 BCLAF1 and THRAP3 family member 3 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:35,257,228...35,328,883
Ensembl chr  X:35,263,576...35,328,816 		JBrowse link
G Bend2 BEN domain containing 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:33,401,122...33,465,427 JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582 		JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:35,498,698...35,513,402
Ensembl chr  X:35,498,517...35,513,335 		JBrowse link
G Map3k15 mitogen-activated protein kinase kinase kinase 15 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:34,713,150...34,859,054
Ensembl chr  X:34,713,175...34,858,807 		JBrowse link
G Map7d2 MAP7 domain containing 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:35,372,453...35,488,073
Ensembl chr  X:35,372,700...35,488,091 		JBrowse link
G Nhs NHS actin remodeling regulator ISO
ISS		 DNA:snp, insertion, nonsense mutations:multiple (human)
ClinVar Annotator: match by term: NHS-related condition | ClinVar Annotator: match by term: Nance-Horan syndrome
OMIM:302350
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:458526 PMID:2246772 PMID:9536098 PMID:14564667 PMID:15466011 More... RGD:1598795 NCBI chr  X:32,553,300...32,892,961
Ensembl chr  X:32,552,026...32,889,992 		JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:34,700,481...34,714,309
Ensembl chr  X:34,700,409...34,714,311 		JBrowse link
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:34,170,959...34,293,498
Ensembl chr  X:34,171,323...34,293,466 		JBrowse link
G Ppef1 protein phosphatase with EF-hand domain 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:33,994,503...34,151,704
Ensembl chr  X:34,021,350...34,151,701 		JBrowse link
G Rai2 retinoic acid induced 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:32,948,656...33,011,222
Ensembl chr  X:32,948,656...33,011,264 		JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:35,517,306...35,623,296
Ensembl chr  X:35,517,306...35,623,207 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:33,962,440...33,992,203
Ensembl chr  X:33,963,657...33,992,115 		JBrowse link
G Scml1 Scm polycomb group protein like 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:32,893,100...32,912,686
Ensembl chr  X:32,894,327...32,911,366 		JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:33,523,179...33,677,672
Ensembl chr  X:33,524,530...33,652,742 		JBrowse link
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 ISO ClinVar Annotator: match by term: Nance-Horan syndrome ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:34,877,862...35,223,013
Ensembl chr  X:34,877,866...35,222,747 		JBrowse link
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ints1 integrator complex subunit 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28492532 PMID:28542170 PMID:28763441 More... NCBI chr12:14,861,312...14,886,048
Ensembl chr12:14,861,318...14,886,037 		JBrowse link
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nacc1 nucleus accumbens associated 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: NACC1-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28132692 PMID:28492532 NCBI chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528 		JBrowse link
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gemin4 gem (nuclear organelle) associated protein 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:27878435 PMID:30237576 NCBI chr10:61,062,420...61,073,529
Ensembl chr10:61,066,425...61,073,431
Ensembl chr10:61,066,425...61,073,431 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia ClinVar
OMIM		 PMID:33443317 NCBI chr 3:12,629,593...12,803,340
Ensembl chr 3:12,629,603...12,803,339 		JBrowse link
nuclear senile cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO DNA:SNP: :rs9939609 (human) RGD PMID:19329528 RGD:329845885 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083 		JBrowse link
Oculoskeletodental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3c2a phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha ISO ClinVar Annotator: match by term: CATARACTS, EARLY-ONSET, WITH SKELETAL AND DENTAL ANOMALIES OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31034465 NCBI chr 1:170,577,942...170,684,353
Ensembl chr 1:170,577,942...170,683,472 		JBrowse link
optic atrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Optic atrophy 3 | ClinVar Annotator: match by term: Optic atrophy, cataract, and neurologic disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:13703570 PMID:15342707 PMID:20301646 PMID:24136862 PMID:25159689 More... NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469
Ensembl chr 1:78,880,114...78,901,469 		JBrowse link
PHARC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd12 abhydrolase domain containing 12, lysophospholipase ISO
ISS		 ClinVar Annotator: match by term: ABHD12-related condition | ClinVar Annotator: match by term: PHARC syndrome
OMIM:612674
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:17576681 PMID:20797687 PMID:23806086 PMID:24088041 More... NCBI chr 3:139,659,315...139,719,529
Ensembl chr 3:139,659,317...139,719,564 		JBrowse link
posterior polar cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Posterior polar cataract ClinVar NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157 		JBrowse link
Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbf1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities ClinVar PMID:15286169 PMID:16565358 NCBI chr 1:245,018,535...245,147,052
Ensembl chr 1:245,018,568...245,147,042 		JBrowse link
G Pitx3 paired-like homeodomain 3 ISO ClinVar Annotator: match by term: Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities
DNA:deletion:exon:c.650delG(human)		 ClinVar
RGD		 PMID:15286169 PMID:16565358 PMID:16565358 RGD:11535073 NCBI chr 1:245,001,106...245,013,881
Ensembl chr 1:245,001,164...245,013,892 		JBrowse link
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir204 microRNA 204 ISO ClinVar Annotator: match by term: Retinal dystrophy and iris coloboma with or without congenital cataract
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:26056285 PMID:28492532 PMID:37321975 NCBI chr 1:220,316,931...220,317,040
Ensembl chr 1:220,316,931...220,317,040 		JBrowse link
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 ISO ClinVar Annotator: match by term: Retinal dystrophy and iris coloboma with or without congenital cataract ClinVar PMID:26056285 PMID:28492532 PMID:37321975 NCBI chr 1:219,673,200...220,557,610
Ensembl chr 1:219,672,892...220,560,717 		JBrowse link
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gphn gephyrin ISO ClinVar Annotator: match by term: Retinal dystrophy, juvenile cataracts, and short stature syndrome ClinVar PMID:24916380 PMID:25741868 PMID:28492532 NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612 		JBrowse link
G Rdh11 retinol dehydrogenase 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinal dystrophy, juvenile cataracts, and short stature syndrome		 OMIM
CTD
ClinVar		 PMID:24916380 PMID:25741868 PMID:28492532 NCBI chr 6:97,979,377...97,995,252
Ensembl chr 6:97,979,378...97,995,252 		JBrowse link
Schwartz-Jampel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspg2 heparan sulfate proteoglycan 2 ISO
ISS		 ClinVar Annotator: match by term: HSPG2-related condition | ClinVar Annotator: match by term: Qualitative or quantitative defects of perlecan | ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1
OMIM:255800		 OMIM
ClinVar
MouseDO		 PMID:11038441 PMID:11101850 PMID:11279527 PMID:11941538 PMID:16199547 More... NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594 		JBrowse link
G Ldlrad2 low density lipoprotein receptor class A domain containing 2 ISO ClinVar Annotator: match by term: HSPG2-related condition | ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1 ClinVar PMID:11038441 PMID:11941538 PMID:25504735 PMID:25741868 PMID:26467025 More... NCBI chr 5:149,778,795...149,788,335
Ensembl chr 5:149,779,675...149,787,140 		JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Qualitative or quantitative defects of plectin ClinVar PMID:25741868 NCBI chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467 		JBrowse link
Sengers syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agk acylglycerol kinase ISO ClinVar Annotator: match by term: Sengers syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3560758 PMID:9536098 PMID:15168109 PMID:16199547 PMID:17576681 More... NCBI chr 4:69,114,850...69,193,989
Ensembl chr 4:69,114,269...69,193,934 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23266196 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
senile cataract term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase susceptibility ISO DNA:SNP:3' UTR: (rs4585) (human) RGD PMID:29156695 RGD:126790564 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Cat catalase treatment ISO protein:decreased activity:serum: RGD PMID:23781296 PMID:16129095 RGD:9068934, RGD:10003112 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO RGD PMID:21501079 RGD:10045354 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility
no_association		 ISO DNA:missense mutation:cds:p.D312N (human)
DNA:missense mutation:cds:p.K751Q (human)		 RGD PMID:24868140 PMID:21599457 RGD:10401084, RGD:10401083 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Ghr growth hormone receptor ISO RGD PMID:16129095 RGD:10003112 NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:16129095 RGD:10003112 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gsr glutathione-disulfide reductase ISO RGD PMID:12518238 RGD:10401829 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:22446016 RGD:14700972 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism: : RGD PMID:10892871 RGD:8547933 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO RGD PMID:22446016 RGD:14700972 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B susceptibility ISO DNA:SNP: :1267A>G (human) RGD PMID:23666708 RGD:8662462 NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240
Ensembl chr20:3,856,006...3,873,240 		JBrowse link
G Mt2A metallothionein 2A ISO RGD PMID:9804143 RGD:10412648 NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784 		JBrowse link
G Nat2 N-acetyltransferase 2 ISO RGD PMID:16251120 RGD:8552653 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase susceptibility ISO DNA:missense mutation:cds:p.S326C (human) RGD PMID:24868140 RGD:10401084 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Sirt1 sirtuin 1 ISO RGD PMID:21501079 RGD:10045354 NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260 		JBrowse link
G Wrn WRN RecQ like helicase susceptibility
no_association		 ISO DNA:missense mutation:cds:p.C1367R (rs1346044) (human) RGD PMID:23334603 PMID:20808731 RGD:10042984, RGD:10042985 NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:missense mutation:cds:p.G399A (human) RGD PMID:21599457 RGD:10401083 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
Spondyloocular Syndrome, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xylt2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Spondyloocular syndrome, autosomal recessive | ClinVar Annotator: match by term: XYLT2-related condition OMIM
ClinVar		 PMID:16571645 PMID:25741868 PMID:26027496 PMID:26987875 PMID:28492532 More... NCBI chr10:79,605,910...79,619,482
Ensembl chr10:79,606,007...79,619,391 		JBrowse link
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc2a1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS | ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects		 CTD
OMIM
ClinVar		 PMID:9536098 PMID:10980529 PMID:11477212 PMID:12325075 PMID:15622525 More... NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
syndromic microphthalmia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Oculofaciocardiodental syndrome ClinVar PMID:28492532 NCBI chr  X:10,183,983...10,210,948
Ensembl chr  X:10,183,068...10,210,918 		JBrowse link
G Bcor BCL6 co-repressor ISO
ISS		 ClinVar Annotator: match by term: BCOR-related condition | ClinVar Annotator: match by term: Oculofaciocardiodental syndrome
OMIM:300166
DNA:mutations:cds:
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:15004558 PMID:15770227 PMID:16199547 PMID:16829040 PMID:17517692 More... RGD:1600504 NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613 		JBrowse link
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tkfc triokinase and FMN cyclase ISO ClinVar Annotator: match by term: Triokinase and FMN cyclase deficiency syndrome ClinVar
OMIM		 PMID:25741868 PMID:32004446 NCBI chr 1:207,238,230...207,253,035
Ensembl chr 1:207,236,557...207,252,737 		JBrowse link
Vici syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ark2c arkadia C-terminal like ring finger ubiquitin ligase 2C ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:70,984,566...71,100,836
Ensembl chr18:70,989,731...71,100,836 		JBrowse link
G Ark2n arkadia (RNF111) N-terminal like PKA signaling regulator 2N ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:71,155,956...71,243,655
Ensembl chr18:71,157,700...71,243,482 		JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794 		JBrowse link
G Epg5 ectopic P-granules 5 autophagy tethering factor ISO ClinVar Annotator: match by term: EPG5-related condition | ClinVar Annotator: match by term: Vici syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3344762 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 More... NCBI chr18:71,403,990...71,502,079
Ensembl chr18:71,404,010...71,501,502 		JBrowse link
G Haus1 HAUS augmin-like complex, subunit 1 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:71,275,417...71,286,626
Ensembl chr18:71,273,537...71,286,660 		JBrowse link
G Hdhd2 haloacid dehalogenase-like hydrolase domain containing 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:70,488,315...70,526,471
Ensembl chr18:70,474,926...70,526,470 		JBrowse link
G Ier3ip1-ps1 immediate early response 3 interacting protein 1, pseudogene 1 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr 4:132,342,131...132,342,625
Ensembl chr 4:132,332,180...132,342,316 		JBrowse link
G Katnal2 katanin catalytic subunit A1 like 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:70,531,759...70,607,886
Ensembl chr18:70,531,754...70,608,082 		JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:70,817,962...70,970,606
Ensembl chr18:70,818,276...70,969,983 		JBrowse link
G Pias2 protein inhibitor of activated STAT, 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:70,608,034...70,714,295
Ensembl chr18:70,607,665...70,710,033 		JBrowse link
G Pstpip2 proline-serine-threonine phosphatase-interacting protein 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:71,310,387...71,396,752
Ensembl chr18:71,311,020...71,395,709 		JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556 		JBrowse link
G Siglec15 sialic acid binding Ig-like lectin 15 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:71,506,416...71,521,894
Ensembl chr18:71,505,399...71,521,881 		JBrowse link
G Skor2 SKI family transcriptional corepressor 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:70,404,431...70,446,330
Ensembl chr18:70,404,489...70,440,342 		JBrowse link
G Slc14a1 solute carrier family 14 member 1 (Kidd blood group) ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:71,565,453...71,608,807
Ensembl chr18:71,565,454...71,595,146 		JBrowse link
G Slc14a2 solute carrier family 14 member 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:71,612,460...72,039,462
Ensembl chr18:71,612,460...71,792,968 		JBrowse link
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323 		JBrowse link
G St8sia5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:70,736,395...70,802,537
Ensembl chr18:70,736,602...70,797,789 		JBrowse link
Warburg micro syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab18 RAB18, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043 		JBrowse link
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome		 CTD
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:35196747 NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169 		JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome		 CTD
ClinVar		 PMID:28492532 NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478 		JBrowse link
G Tbc1d20 TBC1 domain family, member 20 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121 		JBrowse link
Warburg micro syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: RAB3GAP1-related condition | ClinVar Annotator: match by term: Warburg micro syndrome 1 OMIM
ClinVar		 PMID:8249951 PMID:9536098 PMID:15216543 PMID:15696165 PMID:16199547 More... NCBI chr13:39,355,698...39,429,154
Ensembl chr13:39,352,247...39,429,169 		JBrowse link
Warburg micro syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: MICRO SYNDROME 2 | ClinVar Annotator: match by term: Warburg micro syndrome 2 OMIM
ClinVar		 PMID:16199547 PMID:20967465 PMID:23420520 PMID:24033266 PMID:25741868 More... NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478 		JBrowse link
Warburg micro syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab18 RAB18, member RAS oncogene family ISO
ISS		 OMIM:614222
ClinVar Annotator: match by term: Warburg micro syndrome 3		 OMIM
MouseDO
ClinVar		 PMID:21473985 PMID:23420520 PMID:25741868 PMID:28492532 PMID:29300443 NCBI chr17:54,944,099...54,976,093
Ensembl chr17:54,943,955...54,976,043 		JBrowse link
Warburg micro syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d20 TBC1 domain family, member 20 ISO
ISS		 OMIM:615663
ClinVar Annotator: match by term: Warburg micro syndrome 4		 OMIM
MouseDO
ClinVar		 PMID:24239381 PMID:25741868 PMID:32740904 NCBI chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121 		JBrowse link
Weill-Marchesani Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant | ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 OMIM
ClinVar		 PMID:627879 PMID:948948 PMID:1852208 PMID:2005308 PMID:2254511 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      eye disease 3492
        lens disease 456
          Aphakia + 4
          Artificial Lens Implant Migration 0
          cataract + 446
          lens subluxation + 8
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            eye disease 3492
              lens disease 456
                Aphakia + 4
                Artificial Lens Implant Migration 0
                cataract + 446
                lens subluxation + 8
paths to the root