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ONTOLOGY REPORT - ANNOTATIONS


Term:lens disease
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Accession:DOID:110 term browser browse the term
Definition:Diseases involving the CRYSTALLINE LENS.
Synonyms:exact_synonym: lens diseases
 primary_id: MESH:D007905;   RDO:0004885
 xref: ICD10CM:H25-H28;   ICD10CM:H27.9;   NCI:C26812
For additional species annotation, visit the Alliance of Genome Resources.


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lens disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl4 ADAMTS-like 4 JBrowse link 2 197,803,572 197,815,058 RGD:13592920
G C1qtnf5 C1q and TNF related 5 JBrowse link 8 48,443,515 48,445,639 RGD:11554173
G Siah2 siah E3 ubiquitin protein ligase 2 JBrowse link 2 148,874,151 148,891,900 RGD:11554173
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clpb caseinolytic mitochondrial matrix peptidase chaperone subunit B JBrowse link 1 166,739,372 166,866,095 RGD:7240710
RGD:8554872
Aniridia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcdc5 doublecortin domain containing 5 JBrowse link 3 97,207,500 97,435,067 RGD:8554872
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 JBrowse link 3 96,025,388 96,065,765 RGD:8554872
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:8554872
G Immp1l inner mitochondrial membrane peptidase subunit 1 JBrowse link 3 95,955,126 96,024,316 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
G Rcn1 reticulocalbin 1 JBrowse link 3 95,404,863 95,419,110 RGD:8554872
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:8554872
Aphakia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxe3 forkhead box E3 JBrowse link 5 133,724,796 133,725,656 RGD:1598956
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:11535071
RGD:11535075
autosomal dominant isolated ectopia lentis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:7240710
RGD:8554872
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:8554872
autosomal recessive isolated ectopia lentis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl4 ADAMTS-like 4 JBrowse link 2 197,803,572 197,815,058 RGD:7240710
RGD:8554872
Ayme-Gripp syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:8554872
RGD:7240710
cataract term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam10 ADAM metallopeptidase domain 10 JBrowse link 8 77,107,355 77,237,483 RGD:13703031
G Agk acylglycerol kinase JBrowse link 4 68,483,345 68,561,518 RGD:8554872
G Akr1b1 aldo-keto reductase family 1 member B JBrowse link 4 61,706,866 61,720,959 RGD:1626083
RGD:11554173
RGD:8548672
RGD:8548671
RGD:8548638
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:13434923
G Aldh3a1 aldehyde dehydrogenase 3 family, member A1 JBrowse link 10 47,490,168 47,499,855 RGD:11554173
G Anxa1 annexin A1 JBrowse link 1 237,893,983 237,910,002 RGD:7421556
RGD:7421566
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:11554173
G Atp2b1 ATPase plasma membrane Ca2+ transporting 1 JBrowse link 7 41,114,606 41,223,138 RGD:11554173
G B2m beta-2 microglobulin JBrowse link 3 114,087,287 114,093,311 RGD:2311237
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:8554872
G Bfsp2 beaded filament structural protein 2 JBrowse link 8 111,908,614 111,965,889 RGD:8554872
RGD:9068941
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:1599505
G Casp3 caspase 3 JBrowse link 16 48,845,011 48,863,249 RGD:13782357
G Casp9 caspase 9 JBrowse link 5 160,356,211 160,373,774 RGD:13782357
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:9068905
RGD:9068911
RGD:9068909
G Cck cholecystokinin JBrowse link 8 130,120,525 130,127,515 RGD:2313636
G Ccl11 C-C motif chemokine ligand 11 JBrowse link 10 69,434,965 69,439,566 RGD:7248415
G Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation RGD:2293616
G Clock clock circadian regulator JBrowse link 14 34,418,226 34,502,218 RGD:10401871
G Col18a1 collagen type XVIII alpha 1 chain JBrowse link 20 12,225,202 12,332,858 RGD:8554872
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:11554173
G Cryaa crystallin, alpha A JBrowse link 20 10,438,444 10,442,189 RGD:1600993
RGD:13503352
RGD:8554872
RGD:11554173
RGD:1600984
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:8554872
RGD:13503352
RGD:11554173
G Cryba1 crystallin, beta A1 JBrowse link 10 65,160,777 65,167,504 RGD:10059634
RGD:10059653
RGD:10059642
RGD:10059641
G Cryba4 crystallin, beta A4 JBrowse link 12 50,407,843 50,414,434 RGD:2303653
RGD:8554872
G Crybb1 crystallin, beta B1 JBrowse link 12 50,390,939 50,404,550 RGD:728217
RGD:8554872
RGD:11554173
G Crybb2 crystallin, beta B2 JBrowse link 12 49,577,580 49,588,555 RGD:1601011
RGD:8554872
RGD:734832
G Crybb3 crystallin, beta B3 JBrowse link 12 49,564,991 49,571,008 RGD:8554872
G Cryga crystallin, gamma A JBrowse link 9 71,828,308 71,855,900 RGD:8554872
RGD:13592920
G Crygc crystallin, gamma C JBrowse link 9 71,786,246 71,788,281 RGD:1601015
RGD:11554173
RGD:8554872
G Crygd crystallin, gamma D JBrowse link 9 71,776,568 71,778,323 RGD:1298817
RGD:8554872
RGD:11554173
G Crygs crystallin, gamma S JBrowse link 11 81,796,891 81,802,172 RGD:11554173
G Cth cystathionine gamma-lyase JBrowse link 2 264,266,959 264,293,040 RGD:1600763
G Dennd11 DENN domain containing 11 JBrowse link 4 68,569,308 68,597,626 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:12879865
G Dnase2b deoxyribonuclease 2 beta JBrowse link 2 252,436,363 252,475,506 RGD:13592920
G Epha2 Eph receptor A2 JBrowse link 5 159,845,773 159,874,203 RGD:8554872
G Epm2a EPM2A glucan phosphatase, laforin JBrowse link 1 5,448,958 5,571,512 RGD:8554872
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:12880390
G Ercc6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 16 8,734,028 8,804,610 RGD:11554173
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:2315757
G Fdft1 farnesyl diphosphate farnesyl transferase 1 JBrowse link 15 46,339,248 46,367,302 RGD:1626611
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:8554856
G Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 JBrowse link 8 132,844,042 132,910,905 RGD:8554872
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:10449123
G Galk1 galactokinase 1 JBrowse link 10 104,560,322 104,564,499 RGD:1300192
RGD:11554173
G Gclc glutamate-cysteine ligase, catalytic subunit JBrowse link 8 85,059,051 85,097,471 RGD:13592920
G Gcnt2 glucosaminyl (N-acetyl) transferase 2 (I blood group) JBrowse link 17 21,634,546 21,677,477 RGD:8693611
RGD:8554872
G Gemin4 gem (nuclear organelle) associated protein 4 JBrowse link 10 64,364,808 64,375,885 RGD:8554872
G Gja3 gap junction protein, alpha 3 JBrowse link 15 37,298,607 37,325,370 RGD:1599824
RGD:8554872
G Gja8 gap junction protein, alpha 8 JBrowse link 2 199,050,854 199,052,470 RGD:629571
RGD:8554872
RGD:11554173
G Gja8m1Cas gap junction protein, alpha 8; mutant 1 Cas RGD:629571
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:11353787
G Gsr glutathione-disulfide reductase JBrowse link 16 62,197,617 62,239,987 RGD:1600697
RGD:10401885
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:7488949
RGD:7488950
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:7794821
RGD:7794839
G Hsf4 heat shock transcription factor 4 JBrowse link 19 37,225,800 37,232,048 RGD:1599774
RGD:8554872
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 13 103,229,868 103,265,019 RGD:8554872
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:8157612
G Il18 interleukin 18 JBrowse link 8 55,009,666 55,016,286 RGD:8655879
RGD:8655881
G Lim2 lens intrinsic membrane protein 2 JBrowse link 1 98,495,082 98,501,248 RGD:1600309
RGD:8554872
RGD:11554173
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:1547889
RGD:13204738
RGD:13204737
RGD:8554872
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 RGD:12801446
G Miat myocardial infarction associated transcript JBrowse link 12 50,447,251 50,461,859 RGD:8554872
G Mip major intrinsic protein of lens fiber JBrowse link 7 2,635,743 2,642,995 RGD:1599936
RGD:8554872
RGD:11554173
G Mir221 microRNA 221 JBrowse link X 3,684,480 3,684,588 RGD:11554173
G Mmaa metabolism of cobalamin associated A JBrowse link 19 32,294,087 32,325,927 RGD:8554872
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:8693669
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:7387253
G Ndrg2 NDRG family member 2 JBrowse link 15 28,305,820 28,314,459 RGD:11554173
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 JBrowse link 9 65,478,496 65,488,708 RGD:8554872
G Nectin3 nectin cell adhesion molecule 3 JBrowse link 11 57,897,879 57,995,193 RGD:8554872
G Nfe2l2 nuclear factor, erythroid 2-like 2 JBrowse link 3 62,497,568 62,525,146 RGD:6893326
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:8554872
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 JBrowse link 18 31,728,373 32,704,022 RGD:4892118
G Ocrl OCRL, inositol polyphosphate-5-phosphatase JBrowse link X 134,742,226 134,793,411 RGD:8554872
G Ogg1 8-oxoguanine DNA glycosylase JBrowse link 4 145,282,828 145,289,367 RGD:8657151
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8552253
RGD:8554872
RGD:11554173
RGD:8552372
G Pex11b peroxisomal biogenesis factor 11 beta JBrowse link 2 198,762,138 198,771,040 RGD:8554872
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:8554872
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:11535076
RGD:11554173
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:8547553
G Psmc3 proteasome 26S subunit, ATPase 3 JBrowse link 3 79,876,938 79,882,319 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:12859033
G Pxdn peroxidasin JBrowse link 6 48,866,496 48,982,368 RGD:8554872
G Sil1 SIL1 nucleotide exchange factor JBrowse link 18 28,067,476 28,302,008 RGD:8554872
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 RGD:8554872
G Slc16a12 solute carrier family 16, member 12 JBrowse link 1 252,976,071 253,054,500 RGD:8554872
G Slc19a1 solute carrier family 19 member 1 JBrowse link 20 12,334,675 12,354,517 RGD:8554872
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:12801446
G Slc2a3 solute carrier family 2 member 3 JBrowse link 4 155,549,991 155,626,018 RGD:2313618
G Slc33a1 solute carrier family 33 member 1 JBrowse link 2 154,520,170 154,542,981 RGD:11554173
G Slc4a4 solute carrier family 4 member 4 JBrowse link 14 20,476,258 20,817,042 RGD:11554173
G Slc9a1 solute carrier family 9 member A1 JBrowse link 5 151,573,122 151,626,360 RGD:8693684
G Sod1 superoxide dismutase 1 JBrowse link 11 30,363,282 30,368,858 RGD:2312362
RGD:8655573
RGD:8655570
RGD:1581192
G Sord sorbitol dehydrogenase JBrowse link 3 114,176,127 114,207,368 RGD:13592920
G Taldo1 transaldolase 1 JBrowse link 1 214,375,555 214,385,886 RGD:8554872
G Tdrd7 tudor domain containing 7 JBrowse link 5 61,557,909 61,631,719 RGD:11554173
RGD:8554872
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:8547757
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay JBrowse link X 123,713,327 123,731,431 RGD:8554872
G Vim vimentin JBrowse link 17 80,882,715 80,891,200 RGD:11554173
RGD:8554872
G Xdh xanthine dehydrogenase JBrowse link 6 25,149,570 25,211,273 RGD:13208958
RGD:8554872
G Xrcc1 X-ray repair cross complementing 1 JBrowse link 1 81,412,635 81,441,680 RGD:10401127
cataract 1 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja3 gap junction protein, alpha 3 JBrowse link 15 37,298,607 37,325,370 RGD:8554872
G Gja8 gap junction protein, alpha 8 JBrowse link 2 199,050,854 199,052,470 RGD:7240710
RGD:8554872
RGD:2293186
G Gja8m1Cub gap junction protein, alpha 8; mutant 1 Cub RGD:2293186
cataract 10 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryba1 crystallin, beta A1 JBrowse link 10 65,160,777 65,167,504 RGD:7240710
RGD:8554872
RGD:734831
cataract 11 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:7240710
RGD:8554872
RGD:11554173
cataract 12 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bfsp2 beaded filament structural protein 2 JBrowse link 8 111,908,614 111,965,889 RGD:7240710
RGD:8554872
cataract 13 with adult i phenotype term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gcnt2 glucosaminyl (N-acetyl) transferase 2 (I blood group) JBrowse link 17 21,634,546 21,677,477 RGD:7240710
RGD:8554872
cataract 14 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryl1 crystallin, lambda 1 JBrowse link 15 37,543,727 37,663,586 RGD:8554872
G Eef1akmt1 EEF1A lysine methyltransferase 1 JBrowse link 15 37,813,115 37,830,932 RGD:8554872
G Gja3 gap junction protein, alpha 3 JBrowse link 15 37,298,607 37,325,370 RGD:7240710
RGD:8554872
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:8554872
G Gjb6 gap junction protein, beta 6 JBrowse link 15 37,400,888 37,411,656 RGD:8554872
G Ift88 intraflagellar transport 88 JBrowse link 15 37,690,417 37,786,855 RGD:8554872
G Il17d interleukin 17D JBrowse link 15 37,790,211 37,807,653 RGD:8554872
G Xpo4 exportin 4 JBrowse link 15 37,835,580 37,926,715 RGD:8554872
cataract 15 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mip major intrinsic protein of lens fiber JBrowse link 7 2,635,743 2,642,995 RGD:7240710
RGD:8554872
cataract 16 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:7240710
RGD:8554872
cataract 17 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryba4 crystallin, beta A4 JBrowse link 12 50,407,843 50,414,434 RGD:8554872
G Crybb1 crystallin, beta B1 JBrowse link 12 50,390,939 50,404,550 RGD:7240710
RGD:8554872
cataract 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 JBrowse link 8 132,844,042 132,910,905 RGD:7240710
RGD:8554872
cataract 19 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lim2 lens intrinsic membrane protein 2 JBrowse link 1 98,495,082 98,501,248 RGD:7240710
RGD:8554872
cataract 2 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crygc crystallin, gamma C JBrowse link 9 71,786,246 71,788,281 RGD:7240710
RGD:8554872
G Crygd crystallin, gamma D JBrowse link 9 71,776,568 71,778,323 RGD:13592920
cataract 20 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crygs crystallin, gamma S JBrowse link 11 81,796,891 81,802,172 RGD:7240710
RGD:8554872
cataract 21 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dynlrb2 dynein light chain roadblock-type 2 JBrowse link 19 49,016,919 49,028,400 RGD:8554872
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:7240710
RGD:8554872
G Wwox WW domain-containing oxidoreductase JBrowse link 19 46,761,353 47,695,247 RGD:8554872
cataract 22 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crybb3 crystallin, beta B3 JBrowse link 12 49,564,991 49,571,008 RGD:7240710
RGD:8554872
cataract 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryba4 crystallin, beta A4 JBrowse link 12 50,407,843 50,414,434 RGD:7240710
RGD:8554872
cataract 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja8 gap junction protein, alpha 8 JBrowse link 2 199,050,854 199,052,470 RGD:11554173
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8552277
cataract 3 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crybb2 crystallin, beta B2 JBrowse link 12 49,577,580 49,588,555 RGD:7240710
RGD:8554872
cataract 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crygc crystallin, gamma C JBrowse link 9 71,786,246 71,788,281 RGD:8554872
G Vim vimentin JBrowse link 17 80,882,715 80,891,200 RGD:7240710
RGD:8554872
cataract 31 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chmp4b charged multivesicular body protein 4B JBrowse link 3 150,188,275 150,227,453 RGD:7240710
RGD:8554872
cataract 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bfsp1 beaded filament structural protein 1 JBrowse link 3 137,935,345 137,992,652 RGD:7240710
RGD:8554872
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:734947
cataract 34 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxe3 forkhead box E3 JBrowse link 5 133,724,796 133,725,656 RGD:8554872
RGD:7240710
cataract 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tdrd7 tudor domain containing 7 JBrowse link 5 61,557,909 61,631,719 RGD:7240710
RGD:8554872
cataract 38 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agk acylglycerol kinase JBrowse link 4 68,483,345 68,561,518 RGD:7240710
RGD:8554872
G Dennd11 DENN domain containing 11 JBrowse link 4 68,569,308 68,597,626 RGD:8554872
cataract 39 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crygb crystallin, gamma B JBrowse link 9 71,796,204 71,798,265 RGD:7240710
RGD:8554872
cataract 4 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crygd crystallin, gamma D JBrowse link 9 71,776,568 71,778,323 RGD:7240710
RGD:8554872
cataract 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:7240710
RGD:8554872
cataract 41 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:7240710
RGD:8554872
cataract 42 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryba2 crystallin, beta A2 JBrowse link 9 82,151,056 82,154,266 RGD:7240710
cataract 43 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Unc45b unc-45 myosin chaperone B JBrowse link 10 70,262,340 70,290,445 RGD:8554872
RGD:7240710
cataract 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lss lanosterol synthase JBrowse link 20 12,844,522 12,870,474 RGD:8554872
RGD:7240710
cataract 45 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sipa1l3 signal-induced proliferation-associated 1 like 3 JBrowse link 1 87,260,832 87,467,846 RGD:8554872
RGD:7240710
cataract 46 juvenile-onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lemd2 LEM domain nuclear envelope protein 2 JBrowse link 20 5,779,742 5,786,213 RGD:7240710
RGD:8554872
cataract 47 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc16a12 solute carrier family 16, member 12 JBrowse link 1 252,976,071 253,054,500 RGD:7240710
RGD:8554872
cataract 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnmbp dynamin binding protein JBrowse link 1 263,625,503 263,718,784 RGD:7240710
RGD:8554872
cataract 5 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxl8 F-box and leucine-rich repeat protein 8 JBrowse link 19 37,216,696 37,225,701 RGD:8554872
G Hsf4 heat shock transcription factor 4 JBrowse link 19 37,225,800 37,232,048 RGD:7240710
RGD:8554872
cataract 6 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epha2 Eph receptor A2 JBrowse link 5 159,845,773 159,874,203 RGD:7240710
RGD:8554872
cataract 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crybb2 crystallin, beta B2 JBrowse link 12 49,577,580 49,588,555 RGD:11554173
G Crygd crystallin, gamma D JBrowse link 9 71,776,568 71,778,323 RGD:1601016
cataract 9 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryaa crystallin, alpha A JBrowse link 20 10,438,444 10,442,189 RGD:7240710
RGD:8554872
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:737764
Cataract Microcornea Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja8 gap junction protein, alpha 8 JBrowse link 2 199,050,854 199,052,470 RGD:11554173
RGD:8554872
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:13204740
Cataract, Autosomal Dominant Nuclear term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryba1 crystallin, beta A1 JBrowse link 10 65,160,777 65,167,504 RGD:10059633
RGD:10059638
G Gja3 gap junction protein, alpha 3 JBrowse link 15 37,298,607 37,325,370 RGD:1578473
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 13 103,229,868 103,265,019 RGD:7240710
RGD:8554872
Cerebrooculofacioskeletal Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:1601070
RGD:8554872
RGD:7240710
Cerebrooculofacioskeletal Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 1 80,256,973 80,268,198 RGD:7240710
RGD:8554872
G Polr1g RNA polymerase I subunit G JBrowse link 1 80,267,725 80,271,001 RGD:8554872
congenital aphakia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxe3 forkhead box E3 JBrowse link 5 133,724,796 133,725,656 RGD:8554872
RGD:11554173
Congenital Cataracts, Facial Dysmorphism, and Neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctdp1 CTD phosphatase subunit 1 JBrowse link 18 76,922,913 76,985,095 RGD:7240710
RGD:11554173
RGD:8554872
Congenital Cataracts, Hearing Loss, and Neurodegeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc33a1 solute carrier family 33 member 1 JBrowse link 2 154,520,170 154,542,981 RGD:7240710
RGD:8554872
congenital muscular dystrophy with cataracts and intellectual disability term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Inpp5k inositol polyphosphate-5-phosphatase K JBrowse link 10 63,775,639 63,796,879 RGD:8554872
RGD:7240710
cortical senile cataract term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epha2 Eph receptor A2 JBrowse link 5 159,845,773 159,874,203 RGD:8554872
Crystalline Aculeiform Cataract term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crygd crystallin, gamma D JBrowse link 9 71,776,568 71,778,323 RGD:8554872
diabetic cataract term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gsr glutathione-disulfide reductase JBrowse link 16 62,197,617 62,239,987 RGD:10401829
Ectopia Lentis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl4 ADAMTS-like 4 JBrowse link 2 197,803,572 197,815,058 RGD:8554872
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:1580380
RGD:8554872
RGD:12910481
RGD:12910479
RGD:12910140
RGD:12910138
RGD:12904906
RGD:11554173
RGD:1300363
ectopia lentis with ectopia of pupil term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl4 ADAMTS-like 4 JBrowse link 2 197,803,572 197,815,058 RGD:7240710
RGD:8554872
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asph aspartate-beta-hydroxylase JBrowse link 5 22,577,680 22,799,333 RGD:7240710
RGD:8554872
EDICT Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mir184 microRNA 184 JBrowse link 8 97,175,657 97,175,733 RGD:7240710
RGD:8554872
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jam3 junctional adhesion molecule 3 JBrowse link 8 28,147,110 28,208,466 RGD:7240710
RGD:8554872
hereditary spastic paraplegia 9A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:7240710
RGD:8554872
RGD:11056004
High Myopia with Cataract and Vitreoretinal Degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P3h2 prolyl 3-hydroxylase 2 JBrowse link 11 78,028,885 78,169,746 RGD:7240710
RGD:8554872
hyperferritinemia-cataract syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ftl1 ferritin light chain 1 JBrowse link 1 101,448,190 101,450,034 RGD:1598966
RGD:8554872
RGD:7240710
RGD:5509864
G Gys1 glycogen synthase 1 JBrowse link 1 101,427,195 101,447,092 RGD:8554872
hypomyelinating leukodystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam126a family with sequence similarity 126, member A JBrowse link 4 7,661,710 7,770,179 RGD:7240710
RGD:8554872
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gls glutaminase JBrowse link 9 54,212,622 54,284,879 RGD:7240710
RGD:8554872
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 RGD:8554872
RGD:11554173
Isolated Microphthalmia with Cataract 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:8554872
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itm2b integral membrane protein 2B JBrowse link 15 55,254,703 55,277,713 RGD:7240710
RGD:8554872
Kahrizi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Srd5a3 steroid 5 alpha-reductase 3 JBrowse link 14 34,554,769 34,570,423 RGD:7240710
RGD:8554872
lens subluxation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
G Tfap2a transcription factor AP-2 alpha JBrowse link 17 24,653,342 24,670,457 RGD:8554872
Lipodystrophy with Congenital Cataracts and Neurodegeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cav1 caveolin 1 JBrowse link 4 44,597,123 44,630,206 RGD:7240710
RGD:8554872
Marinesco-Sjogren syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sil1 SIL1 nucleotide exchange factor JBrowse link 18 28,067,476 28,302,008 RGD:13592920
RGD:8554872
Marshall syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:1600881
RGD:8554872
RGD:11554173
RGD:7240710
Marshall/Stickler Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:8554872
Martsolf syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 JBrowse link 13 44,578,208 44,649,876 RGD:8554872
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 13 103,157,806 103,229,010 RGD:7240710
RGD:8554872
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcna4 potassium voltage-gated channel subfamily A member 4 JBrowse link 3 98,293,295 98,300,763 RGD:8554872
RGD:7240710
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msmo1 methylsterol monooxygenase 1 JBrowse link 16 26,859,441 26,875,880 RGD:8554872
RGD:7240710
Microphthalmia, Cataracts, and Iris Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:12880033
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872
Microspherophakia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:8554872
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:7240710
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gfer growth factor, augmenter of liver regeneration JBrowse link 10 14,059,347 14,061,703 RGD:7240710
RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
myofibrillar myopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:7240710
RGD:8554872
Nance-Horan syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:1598795
RGD:8554872
RGD:7240710
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ints1 integrator complex subunit 1 JBrowse link 12 16,950,704 16,974,896 RGD:8554872
RGD:7240710
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nacc1 nucleus accumbens associated 1 JBrowse link 19 25,783,686 25,801,526 RGD:7240710
RGD:8554872
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gemin4 gem (nuclear organelle) associated protein 4 JBrowse link 10 64,364,808 64,375,885 RGD:8554872
RGD:7240710
O'Donnell Pappas Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
Oculoskeletodental Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3c2a phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha JBrowse link 1 185,210,922 185,326,314 RGD:7240710
RGD:8554872
optic atrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa3 OPA3, outer mitochondrial membrane lipid metabolism regulator JBrowse link 1 80,141,630 80,160,145 RGD:7240710
RGD:8554872
PHARC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abhd12 abhydrolase domain containing 12, lysophospholipase JBrowse link 3 146,630,298 146,690,375 RGD:7240710
RGD:8554872
posterior polar cataract term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:8554872
Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:8554872
RGD:11535073
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mir204 microRNA 204 JBrowse link 1 240,403,000 240,403,109 RGD:7240710
RGD:8554872
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 JBrowse link 1 239,741,572 240,757,583 RGD:8554872
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rdh11 retinol dehydrogenase 11 JBrowse link 6 102,356,498 102,372,618 RGD:7240710
RGD:8554872
Sengers syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agk acylglycerol kinase JBrowse link 4 68,483,345 68,561,518 RGD:7240710
RGD:8554872
RGD:11554173
G Dennd11 DENN domain containing 11 JBrowse link 4 68,569,308 68,597,626 RGD:8554872
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
senile cataract term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:9068934
RGD:10003112
G Cdkn1b cyclin-dependent kinase inhibitor 1B JBrowse link 4 168,689,043 168,694,159 RGD:10045354
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 80,293,574 80,307,334 RGD:10401084
RGD:10401083
G Ghr growth hormone receptor JBrowse link 2 53,149,225 53,413,954 RGD:10003112
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:10003112
G Gsr glutathione-disulfide reductase JBrowse link 16 62,197,617 62,239,987 RGD:10401829
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:14700972
G Gstp1 glutathione S-transferase pi 1 JBrowse link 1 219,291,679 219,294,147 RGD:8547933
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:14700972
G Hspa1b heat shock protein family A (Hsp70) member 1B JBrowse link 20 4,877,638 4,880,112 RGD:8662462
G Mt2A metallothionein 2A JBrowse link 19 11,307,966 11,308,740 RGD:10412648
G Nat2 N-acetyltransferase 2 JBrowse link 16 23,960,709 23,991,570 RGD:8552653
G Ogg1 8-oxoguanine DNA glycosylase JBrowse link 4 145,282,828 145,289,367 RGD:10401084
G Sirt1 sirtuin 1 JBrowse link 20 26,831,971 26,851,587 RGD:10045354
G Wrn WRN RecQ like helicase JBrowse link 16 62,483,773 62,619,018 RGD:10042984
RGD:10042985
G Xrcc1 X-ray repair cross complementing 1 JBrowse link 1 81,412,635 81,441,680 RGD:10401083
Spondyloocular Syndrome, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xylt2 xylosyltransferase 2 JBrowse link 10 82,386,003 82,399,485 RGD:8554872
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:8554872
RGD:7240710
syndromic microphthalmia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcor BCL6 co-repressor JBrowse link X 11,570,155 11,692,022 RGD:7240710
RGD:8554872
RGD:11554173
Vici syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epg5 ectopic P-granules autophagy protein 5 homolog JBrowse link 18 74,299,965 74,397,115 RGD:7240710
RGD:8554872
RGD:11554173
Warburg micro syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab18 RAB18, member RAS oncogene family JBrowse link 17 59,844,781 59,876,170 RGD:8554872
RGD:11554173
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 JBrowse link 13 44,578,208 44,649,876 RGD:8554872
RGD:11554173
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 13 103,157,806 103,229,010 RGD:8554872
RGD:11554173
G Tbc1d20 TBC1 domain family, member 20 JBrowse link 3 147,772,006 147,790,946 RGD:11554173
G Zranb3 zinc finger RANBP2-type containing 3 JBrowse link 13 44,661,375 44,812,430 RGD:8554872
Warburg micro syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 JBrowse link 13 44,578,208 44,649,876 RGD:8554872
RGD:7240710
G Zranb3 zinc finger RANBP2-type containing 3 JBrowse link 13 44,661,375 44,812,430 RGD:8554872
Warburg micro syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 13 103,157,806 103,229,010 RGD:7240710
RGD:8554872
Warburg micro syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab18 RAB18, member RAS oncogene family JBrowse link 17 59,844,781 59,876,170 RGD:7240710
RGD:8554872
Warburg micro syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbc1d20 TBC1 domain family, member 20 JBrowse link 3 147,772,006 147,790,946 RGD:7240710
RGD:8554872
Weill-Marchesani Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
RGD:7240710
Zonular Cataract and Nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    sensory system disease 4976
      eye disease 2390
        lens disease 196
          Aphakia + 2
          Artificial Lens Implant Migration 0
          cataract + 189
          lens subluxation + 5
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        sensory system disease 4976
          eye disease 2390
            lens disease 196
              Aphakia + 2
              Artificial Lens Implant Migration 0
              cataract + 189
              lens subluxation + 5
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.