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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 17 59,736,628 59,747,689 RGD:9068941
G C1QTNF5 C1q and TNF related 5 JBrowse link 5 14,561,115 14,563,277 RGD:9068941
G SIAH2 siah E3 ubiquitin protein ligase 2 JBrowse link 23 45,366,343 45,418,960 RGD:9068941
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 21 25,710,634 25,855,418 RGD:7240710
RGD:9068941
Aniridia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNAJC24 DnaJ heat shock protein family (Hsp40) member C24 JBrowse link 18 35,935,826 36,024,062 RGD:9068941
G ELP4 elongator acetyltransferase complex subunit 4 JBrowse link 18 35,638,606 35,880,194 RGD:9068941
G IMMP1L inner mitochondrial membrane peptidase subunit 1 JBrowse link 18 35,880,278 35,963,128 RGD:9068941
G LOC475957 uncharacterized LOC475957 JBrowse link 18 36,024,054 36,484,119 RGD:9068941
G RCN1 reticulocalbin 1 JBrowse link 18 35,373,175 35,393,389 RGD:9068941
G WT1 WT1 transcription factor JBrowse link 18 35,099,660 35,148,767 RGD:9068941
Aphakia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FOXE3 forkhead box E3 JBrowse link 15 13,291,160 13,295,982 RGD:9068941
G PITX3 paired like homeodomain 3 JBrowse link 28 14,760,741 14,775,584 RGD:9068941
autosomal dominant isolated ectopia lentis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FBN1 fibrillin 1 JBrowse link 30 14,640,973 14,864,151 RGD:7240710
RGD:9068941
G LTBP2 latent transforming growth factor beta binding protein 2 JBrowse link 8 47,657,618 47,758,257 RGD:9068941
autosomal recessive isolated ectopia lentis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTSL4 ADAMTS like 4 JBrowse link 17 59,736,628 59,747,689 RGD:7240710
RGD:9068941
Ayme-Gripp Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAF MAF bZIP transcription factor JBrowse link 5 71,965,291 71,982,903 RGD:7240710
RGD:9068941
cataract term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAM10 ADAM metallopeptidase domain 10 JBrowse link 30 23,605,724 23,732,038 RGD:9068941
G AGK acylglycerol kinase JBrowse link 16 7,561,084 7,637,017 RGD:9068941
G AKR1B1 aldo-keto reductase family 1 member B JBrowse link 14 2,991,888 3,006,941 RGD:9068941
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 JBrowse link 28 9,101,578 9,148,063 RGD:9068941
G ALDH3A1 aldehyde dehydrogenase 3 family member A1 JBrowse link 5 40,466,237 40,474,272 RGD:9068941
G ANXA1 annexin A1 JBrowse link 1 84,744,159 84,763,011 RGD:9068941
G ATM ATM serine/threonine kinase JBrowse link 5 24,180,129 24,297,207 RGD:9068941
G ATP2B1 ATPase plasma membrane Ca2+ transporting 1 JBrowse link 15 30,547,009 30,674,094 RGD:9068941
G B2M beta-2-microglobulin JBrowse link 30 11,331,574 11,337,991 RGD:9068941
G BCOR BCL6 corepressor JBrowse link X 34,621,314 34,735,502 RGD:9068941
G BFSP2 beaded filament structural protein 2 JBrowse link 23 30,334,080 30,394,202 RGD:9068941
G BRCA2 BRCA2 DNA repair associated JBrowse link 25 7,734,450 7,797,851 RGD:9068941
G CASP3 caspase 3 JBrowse link 16 45,920,074 45,940,507 RGD:9068941
G CASP9 caspase 9 JBrowse link 2 82,033,759 82,076,710 RGD:9068941
G CAT catalase JBrowse link 18 33,383,005 33,422,447 RGD:9068941
G CCK cholecystokinin JBrowse link 23 11,414,254 11,419,990 RGD:9068941
G CLOCK clock circadian regulator JBrowse link 13 47,684,409 47,825,733 RGD:9068941
G COL18A1 collagen type XVIII alpha 1 chain JBrowse link 31 38,915,872 38,957,484 RGD:9068941
G COL2A1 collagen type II alpha 1 chain JBrowse link 27 6,756,994 6,787,733 RGD:9068941
G CRYAA crystallin alpha A JBrowse link 31 37,307,070 37,310,262 RGD:9068941
G CRYAB crystallin alpha B JBrowse link 5 21,181,836 21,185,164 RGD:9068941
G CRYBA1 crystallin beta A1 JBrowse link 9 43,372,507 43,378,561 RGD:9068941
G CRYBA4 crystallin beta A4 JBrowse link 26 20,272,962 20,280,368 RGD:9068941
G CRYBB1 crystallin beta B1 JBrowse link 26 20,258,873 20,269,647 RGD:9068941
G CRYBB2 crystallin beta B2 JBrowse link 26 19,298,947 19,308,447 RGD:9068941
G CRYBB3 crystallin beta B3 JBrowse link 26 19,276,101 19,291,412 RGD:9068941
G CRYGA crystallin gamma A JBrowse link 37 16,453,644 16,457,116 RGD:9068941
G CRYGC crystallin gamma C RGD:9068941
G CRYGD crystallin, gamma D JBrowse link 37 16,424,884 16,433,479 RGD:9068941
G CRYGS crystallin gamma S JBrowse link 34 19,157,116 19,163,349 RGD:9068941
G CTH cystathionine gamma-lyase JBrowse link 6 75,324,328 75,348,476 RGD:9068941
G DENND11 DENN domain containing 11 JBrowse link 16 7,531,025 7,559,156 RGD:9068941
G DMD dystrophin JBrowse link X 26,290,903 28,444,635 RGD:9068941
G DNASE2B deoxyribonuclease 2 beta JBrowse link 6 63,465,477 63,481,893 RGD:9068941
G EPHA2 EPH receptor A2 JBrowse link 2 81,534,130 81,561,722 RGD:9068941
G EPM2A EPM2A glucan phosphatase, laforin JBrowse link 1 36,835,775 36,977,653 RGD:9068941
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 110,173,781 110,191,612 RGD:9068941
G ERCC6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 28 1,358,383 1,432,276 RGD:9068941
G FAS Fas cell surface death receptor JBrowse link 26 38,738,811 38,763,298 RGD:9068941
G FBXL8 F-box and leucine rich repeat protein 8 JBrowse link 5 82,201,732 82,206,058 RGD:9068941
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 JBrowse link 25 26,060,031 26,093,515 RGD:9068941
G FGF2 fibroblast growth factor 2 JBrowse link 19 17,403,288 17,463,143 RGD:9068941
G FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 JBrowse link 20 42,520,241 42,593,886 RGD:9068941
G G6PD glucose-6-phosphate dehydrogenase JBrowse link X 122,217,317 122,231,862 RGD:9068941
G GALK1 galactokinase 1 JBrowse link 9 4,818,558 4,824,845 RGD:9068941
G GCLC glutamate-cysteine ligase catalytic subunit JBrowse link 12 20,999,815 21,047,779 RGD:9068941
G GEMIN4 gem nuclear organelle associated protein 4 JBrowse link 9 45,040,318 45,046,277 RGD:9068941
G GJA3 gap junction protein alpha 3 JBrowse link 25 17,986,270 18,004,344 RGD:9068941
G GJA8 gap junction protein alpha 8 JBrowse link 17 58,360,313 58,428,751 RGD:9068941
G GPX1 glutathione peroxidase 1 JBrowse link 20 39,889,165 39,890,253 RGD:9068941
G GSR glutathione-disulfide reductase JBrowse link 16 33,633,949 33,680,411 RGD:9068941
G HSF4 heat shock transcription factor 4 JBrowse link 5 82,190,996 82,201,224 RGD:9068941
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 38 14,864,004 14,925,684 RGD:9068941
G IFNG interferon gamma JBrowse link 10 10,406,866 10,411,698 RGD:9068941
G IL18 interleukin 18 JBrowse link 5 20,972,742 20,995,327 RGD:9068941
G LIM2 lens intrinsic membrane protein 2 JBrowse link 1 105,593,457 105,599,788 RGD:9068941
G LOC475937 transaldolase RGD:9068941
G LOC488215 N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase JBrowse link 35 10,304,741 10,387,746 RGD:9068941
G LSS lanosterol synthase JBrowse link 31 39,479,255 39,502,439 RGD:9068941
G MAF MAF bZIP transcription factor JBrowse link 5 71,965,291 71,982,903 RGD:9068941
G MAP2K1 mitogen-activated protein kinase kinase 1 JBrowse link 30 30,683,192 30,760,479 RGD:9068941
G MIP major intrinsic protein of lens fiber JBrowse link 10 701,385 707,005 RGD:9068941
G MIR221 microRNA mir-221 JBrowse link X 39,523,890 39,523,951 RGD:9068941
G MMAA metabolism of cobalamin associated A JBrowse link 15 44,221,082 44,243,530 RGD:9068941
G MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) JBrowse link 5 28,949,631 28,957,915 RGD:9068941
G MTHFR methylenetetrahydrofolate reductase JBrowse link 2 84,445,526 84,457,435 RGD:9068941
G NDRG2 NDRG family member 2 JBrowse link 15 18,106,651 18,115,026 RGD:9068941
G NECTIN3 nectin cell adhesion molecule 3 JBrowse link 33 15,868,813 16,173,158 RGD:9068941
G NFE2L2 nuclear factor, erythroid 2 like 2 JBrowse link 36 20,989,205 21,087,044 RGD:9068941
G NHS NHS actin remodeling regulator JBrowse link X 13,487,919 13,834,869 RGD:9068941
G NR3C1 nuclear receptor subfamily 3 group C member 1 JBrowse link 2 38,124,568 38,242,510 RGD:9068941
G OCRL OCRL inositol polyphosphate-5-phosphatase JBrowse link X 100,760,302 100,817,673 RGD:9068941
G OGG1 8-oxoguanine DNA glycosylase JBrowse link 20 8,486,150 8,491,448 RGD:9068941
G PEX11B peroxisomal biogenesis factor 11 beta JBrowse link 17 58,713,304 58,718,795 RGD:9068941
G PITX2 paired like homeodomain 2 JBrowse link 32 30,710,161 30,730,162 RGD:9068941
G PITX3 paired like homeodomain 3 JBrowse link 28 14,760,741 14,775,584 RGD:9068941
G PON1 paraoxonase 1 JBrowse link 14 20,565,620 20,600,774 RGD:9068941
G PSMC3 proteasome 26S subunit, ATPase 3 JBrowse link 18 42,212,083 42,218,958 RGD:9068941
G PTEN phosphatase and tensin homolog JBrowse link 26 37,853,148 37,913,176 RGD:9068941
G PXDN peroxidasin JBrowse link 17 834,625 891,551 RGD:9068941
G SIX6 SIX homeobox 6 JBrowse link 8 35,565,838 35,568,423 RGD:9068941
G SLC16A12 solute carrier family 16 member 12 JBrowse link 28 4,343,773 4,430,653 RGD:9068941
G SLC19A1 solute carrier family 19 member 1 JBrowse link 31 38,958,332 38,971,091 RGD:9068941
G SLC2A1 solute carrier family 2 member 1 JBrowse link 15 463,307 493,145 RGD:9068941
G SLC2A3 solute carrier family 2 member 3 JBrowse link 27 37,297,932 37,309,604 RGD:9068941
G SLC33A1 solute carrier family 33 member 1 JBrowse link 23 49,522,325 49,548,004 RGD:9068941
G SLC4A4 solute carrier family 4 member 4 JBrowse link 13 60,375,215 60,670,664 RGD:9068941
G SLC9A1 solute carrier family 9 member A1 JBrowse link 2 73,054,742 73,103,364 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 31 26,540,291 26,544,212 RGD:9068941
G SORD sorbitol dehydrogenase JBrowse link 30 11,467,259 11,501,166 RGD:9068941
G TDRD7 tudor domain containing 7 JBrowse link 11 54,758,092 54,828,766 RGD:9068941
G TP53 tumor protein p53 JBrowse link 5 32,561,406 32,565,149 RGD:9068941
G UPF3B UPF3B regulator of nonsense mediated mRNA decay JBrowse link X 91,835,845 91,851,755 RGD:9068941
G VIM vimentin JBrowse link 2 19,671,316 19,679,367 RGD:9068941
G XDH xanthine dehydrogenase JBrowse link 17 24,900,708 24,960,748 RGD:9068941
G XRCC1 X-ray repair cross complementing 1 JBrowse link 1 111,548,719 111,571,816 RGD:9068941
cataract 1 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJA3 gap junction protein alpha 3 JBrowse link 25 17,986,270 18,004,344 RGD:9068941
G GJA8 gap junction protein alpha 8 JBrowse link 17 58,360,313 58,428,751 RGD:7240710
RGD:9068941
cataract 10 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRYBA1 crystallin beta A1 JBrowse link 9 43,372,507 43,378,561 RGD:7240710
RGD:9068941
cataract 11 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PITX3 paired like homeodomain 3 JBrowse link 28 14,760,741 14,775,584 RGD:7240710
RGD:9068941
cataract 12 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BFSP2 beaded filament structural protein 2 JBrowse link 23 30,334,080 30,394,202 RGD:7240710
RGD:9068941
cataract 13 with adult i phenotype term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC488215 N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase JBrowse link 35 10,304,741 10,387,746 RGD:7240710
RGD:9068941
cataract 14 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJA3 gap junction protein alpha 3 JBrowse link 25 17,986,270 18,004,344 RGD:7240710
RGD:9068941
cataract 15 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MIP major intrinsic protein of lens fiber JBrowse link 10 701,385 707,005 RGD:7240710
RGD:9068941
cataract 16 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRYAB crystallin alpha B JBrowse link 5 21,181,836 21,185,164 RGD:7240710
RGD:9068941
cataract 17 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRYBA4 crystallin beta A4 JBrowse link 26 20,272,962 20,280,368 RGD:9068941
G CRYBB1 crystallin beta B1 JBrowse link 26 20,258,873 20,269,647 RGD:7240710
RGD:9068941
cataract 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FYCO1 FYVE and coiled-coil domain autophagy adaptor 1 JBrowse link 20 42,520,241 42,593,886 RGD:7240710
RGD:9068941
cataract 19 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LIM2 lens intrinsic membrane protein 2 JBrowse link 1 105,593,457 105,599,788 RGD:7240710
RGD:9068941
cataract 2 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRYGC crystallin gamma C RGD:7240710
RGD:9068941
G CRYGD crystallin, gamma D JBrowse link 37 16,424,884 16,433,479 RGD:9068941
cataract 20 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRYGS crystallin gamma S JBrowse link 34 19,157,116 19,163,349 RGD:7240710
RGD:9068941
cataract 21 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DYNLRB2 dynein light chain roadblock-type 2 JBrowse link 5 71,169,469 71,179,067 RGD:9068941
G MAF MAF bZIP transcription factor JBrowse link 5 71,965,291 71,982,903 RGD:7240710
RGD:9068941
G WWOX WW domain containing oxidoreductase JBrowse link 5 72,298,254 73,243,667 RGD:9068941
cataract 22 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRYBB3 crystallin beta B3 JBrowse link 26 19,276,101 19,291,412 RGD:7240710
RGD:9068941
cataract 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRYBA4 crystallin beta A4 JBrowse link 26 20,272,962 20,280,368 RGD:7240710
RGD:9068941
cataract 3 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRYBB2 crystallin beta B2 JBrowse link 26 19,298,947 19,308,447 RGD:7240710
RGD:9068941
cataract 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRYGC crystallin gamma C RGD:9068941
G VIM vimentin JBrowse link 2 19,671,316 19,679,367 RGD:7240710
RGD:9068941
cataract 31 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHMP4B charged multivesicular body protein 4B JBrowse link 24 22,995,677 23,050,084 RGD:7240710
RGD:9068941
cataract 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BFSP1 beaded filament structural protein 1 JBrowse link 24 5,432,098 5,500,278 RGD:7240710
RGD:9068941
G ESR1 estrogen receptor 1 JBrowse link 1 42,081,952 42,368,544 RGD:9068941
cataract 34 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FOXE3 forkhead box E3 JBrowse link 15 13,291,160 13,295,982 RGD:9068941
RGD:7240710
cataract 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TDRD7 tudor domain containing 7 JBrowse link 11 54,758,092 54,828,766 RGD:7240710
RGD:9068941
cataract 38 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AGK acylglycerol kinase JBrowse link 16 7,561,084 7,637,017 RGD:7240710
RGD:9068941
cataract 39 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRYGB crystallin gamma B JBrowse link 37 16,440,804 16,442,823 RGD:7240710
RGD:9068941
cataract 4 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRYGD crystallin, gamma D JBrowse link 37 16,424,884 16,433,479 RGD:7240710
RGD:9068941
cataract 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NHS NHS actin remodeling regulator JBrowse link X 13,487,919 13,834,869 RGD:7240710
RGD:9068941
cataract 41 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WFS1 wolframin ER transmembrane glycoprotein JBrowse link 13 38,451,722 38,466,481 RGD:7240710
RGD:9068941
cataract 42 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRYBA2 crystallin beta A2 JBrowse link 37 25,556,308 25,567,952 RGD:7240710
RGD:9068941
cataract 43 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G UNC45B unc-45 myosin chaperone B JBrowse link 9 38,189,917 38,218,337 RGD:7240710
RGD:9068941
cataract 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LSS lanosterol synthase JBrowse link 31 39,479,255 39,502,439 RGD:7240710
RGD:9068941
cataract 45 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SIPA1L3 signal induced proliferation associated 1 like 3 JBrowse link 1 114,768,828 115,003,366 RGD:7240710
RGD:9068941
cataract 46 juvenile-onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LEMD2 LEM domain nuclear envelope protein 2 JBrowse link 12 3,114,175 3,131,779 RGD:7240710
RGD:9068941
Cataract 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DNMBP dynamin binding protein JBrowse link 28 12,751,870 12,825,654 RGD:7240710
RGD:9068941
cataract 5 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HSF4 heat shock transcription factor 4 JBrowse link 5 82,190,996 82,201,224 RGD:12801476
RGD:9068941
RGD:7240710
cataract 6 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EPHA2 EPH receptor A2 JBrowse link 2 81,534,130 81,561,722 RGD:7240710
RGD:9068941
cataract 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRYBB2 crystallin beta B2 JBrowse link 26 19,298,947 19,308,447 RGD:9068941
G CRYGD crystallin, gamma D JBrowse link 37 16,424,884 16,433,479 RGD:9068941
cataract 9 multiple types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRYAA crystallin alpha A JBrowse link 31 37,307,070 37,310,262 RGD:7240710
RGD:9068941
G PITX3 paired like homeodomain 3 JBrowse link 28 14,760,741 14,775,584 RGD:9068941
Cataract Hutterite Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LEMD2 LEM domain nuclear envelope protein 2 JBrowse link 12 3,114,175 3,131,779 RGD:9068941
Cataract Microcornea Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GJA8 gap junction protein alpha 8 JBrowse link 17 58,360,313 58,428,751 RGD:9068941
G MAF MAF bZIP transcription factor JBrowse link 5 71,965,291 71,982,903 RGD:9068941
Cataract, Autosomal Dominant Nuclear term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRYBA1 crystallin beta A1 JBrowse link 9 43,372,507 43,378,561 RGD:9068941
G GJA3 gap junction protein alpha 3 JBrowse link 25 17,986,270 18,004,344 RGD:9068941
Cataract, Lamellar 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRYBA4 crystallin beta A4 JBrowse link 26 20,272,962 20,280,368 RGD:9068941
Cataract, Sutural, with Punctate and Cerulean Opacities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRYBB2 crystallin beta B2 JBrowse link 26 19,298,947 19,308,447 RGD:9068941
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 38 14,864,004 14,925,684 RGD:7240710
RGD:9068941
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 1 110,173,781 110,191,612 RGD:7240710
RGD:9068941
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 1 110,130,353 110,146,660 RGD:7240710
RGD:9068941
congenital aphakia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FOXE3 forkhead box E3 JBrowse link 15 13,291,160 13,295,982 RGD:7240710
RGD:9068941
Congenital Cataracts, Facial Dysmorphism, and Neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CTDP1 CTD phosphatase subunit 1 JBrowse link 1 886,973 945,994 RGD:7240710
RGD:9068941
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 23 49,522,325 49,548,004 RGD:7240710
RGD:9068941
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 9 45,660,445 45,680,407 RGD:7240710
RGD:9068941
cortical senile cataract term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EPHA2 EPH receptor A2 JBrowse link 2 81,534,130 81,561,722 RGD:9068941
Cryohydrocytosis, Stomatin-Deficient, 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 15 463,307 493,145 RGD:7240710
RGD:9068941
Crystalline Aculeiform Cataract term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRYGD crystallin, gamma D JBrowse link 37 16,424,884 16,433,479 RGD:9068941
diabetic cataract term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GSR glutathione-disulfide reductase JBrowse link 16 33,633,949 33,680,411 RGD:9068941
Ectopia Lentis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTSL4 ADAMTS like 4 JBrowse link 17 59,736,628 59,747,689 RGD:9068941
G FBN1 fibrillin 1 JBrowse link 30 14,640,973 14,864,151 RGD:9068941
Ectopia Lentis with Ectopia of Pupil term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTSL4 ADAMTS like 4 JBrowse link 17 59,736,628 59,747,689 RGD:7240710
RGD:9068941
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 29 11,812,275 12,022,755 RGD:7240710
RGD:9068941
Edict Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MIR184 microRNA mir-184 JBrowse link 3 57,914,444 57,914,511 RGD:7240710
RGD:9068941
GEMSS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FBN1 fibrillin 1 JBrowse link 30 14,640,973 14,864,151 RGD:7240710
RGD:9068941
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 5 1,082,619 1,165,188 RGD:7240710
RGD:9068941
hereditary spastic paraplegia 9A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 JBrowse link 28 9,101,578 9,148,063 RGD:7240710
RGD:9068941
hyperferritinemia-cataract syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FTL ferritin light chain JBrowse link 1 107,418,457 107,419,923 RGD:7240710
RGD:9068941
G GYS1 glycogen synthase 1 JBrowse link 1 107,401,056 107,417,273 RGD:9068941
hypomyelinating leukodystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FAM126A family with sequence similarity 126 member A JBrowse link 14 36,594,263 36,718,960 RGD:7240710
RGD:9068941
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 37 1,433,640 1,508,347 RGD:7240710
RGD:9068941
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SIX6 SIX homeobox 6 JBrowse link 8 35,565,838 35,568,423 RGD:7240710
RGD:9068941
Isolated Microphthalmia with Cataract 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NHS NHS actin remodeling regulator JBrowse link X 13,487,919 13,834,869 RGD:9068941
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ITM2B integral membrane protein 2B JBrowse link 22 3,255,139 3,261,440 RGD:7240710
RGD:9068941
Juvenile Cataract, with Microcornea and Glucosuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC16A12 solute carrier family 16 member 12 JBrowse link 28 4,343,773 4,430,653 RGD:7240710
RGD:9068941
Kahrizi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SRD5A3 steroid 5 alpha-reductase 3 JBrowse link 13 47,627,854 47,643,116 RGD:7240710
RGD:9068941
lens subluxation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FBN1 fibrillin 1 JBrowse link 30 14,640,973 14,864,151 RGD:9068941
G TFAP2A transcription factor AP-2 alpha JBrowse link 35 10,157,043 10,180,484 RGD:9068941
Lipodystrophy with Congenital Cataracts and Neurodegeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAV1 caveolin 1 JBrowse link 14 55,458,934 55,494,563 RGD:7240710
RGD:9068941
Marinesco-Sjogren syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SIL1 SIL1 nucleotide exchange factor JBrowse link 11 26,470,439 26,689,198 RGD:9068941
Marshall syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL11A1 collagen type XI alpha 1 chain JBrowse link 6 47,425,387 47,622,189 RGD:7240710
RGD:9068941
Marshall/Stickler Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL11A1 collagen type XI alpha 1 chain JBrowse link 6 47,425,387 47,622,189 RGD:9068941
Martsolf syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 JBrowse link 19 37,861,844 38,006,433 RGD:9068941
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 38 14,927,670 15,025,554 RGD:7240710
RGD:9068941
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 21 50,114,251 50,120,070 RGD:7240710
RGD:9068941
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MSMO1 methylsterol monooxygenase 1 JBrowse link 15 61,293,769 61,307,285 RGD:7240710
RGD:9068941
Microphthalmia, Cataracts, and Iris Abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SMAD4 SMAD family member 4 JBrowse link 1 23,875,989 23,930,027 RGD:9068941
G VSX2 visual system homeobox 2 JBrowse link 8 47,455,337 47,473,786 RGD:9068941
Microphthalmia, Syndromic 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BCOR BCL6 corepressor JBrowse link X 34,621,314 34,735,502 RGD:7240710
RGD:9068941
Microspherophakia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LTBP2 latent transforming growth factor beta binding protein 2 JBrowse link 8 47,657,618 47,758,257 RGD:9068941
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 8 47,657,618 47,758,257 RGD:7240710
RGD:9068941
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 6 38,948,927 38,951,300 RGD:7240710
RGD:9068941
G RYR1 ryanodine receptor 1 JBrowse link 1 114,461,350 114,579,577 RGD:9068941
myofibrillar myopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRYAB crystallin alpha B JBrowse link 5 21,181,836 21,185,164 RGD:7240710
RGD:9068941
Myopia, High, with Cataract and Vitreoretinal Degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P3H2 prolyl 3-hydroxylase 2 JBrowse link 34 22,035,124 22,185,146 RGD:7240710
RGD:9068941
Nance-Horan syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NHS NHS actin remodeling regulator JBrowse link X 13,487,919 13,834,869 RGD:7240710
RGD:9068941
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 6 15,453,491 15,483,240 RGD:7240710
RGD:9068941
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 20 49,080,490 49,099,623 RGD:7240710
RGD:9068941
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 9 45,040,318 45,046,277 RGD:7240710
RGD:9068941
O'Donnell Pappas Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ELP4 elongator acetyltransferase complex subunit 4 JBrowse link 18 35,638,606 35,880,194 RGD:9068941
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 21 39,693,211 39,868,603 RGD:7240710
RGD:9068941
PHARC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABHD12 abhydrolase domain containing 12 JBrowse link 23 1,496,183 1,562,738 RGD:7240710
RGD:9068941
posterior polar cataract term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRYAB crystallin alpha B JBrowse link 5 21,181,836 21,185,164 RGD:9068941
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 28 14,760,741 14,775,584 RGD:9068941
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MIR204 microRNA mir-204 JBrowse link 1 86,818,494 86,818,553 RGD:7240710
RGD:9068941
G TRPM3 transient receptor potential cation channel subfamily M member 3 JBrowse link 1 86,525,054 87,023,561 RGD:9068941
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GPHN gephyrin JBrowse link 8 40,585,625 41,204,007 RGD:9068941
G RDH11 retinol dehydrogenase 11 JBrowse link 8 41,651,970 41,669,661 RGD:7240710
RGD:9068941
Sengers syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AGK acylglycerol kinase JBrowse link 16 7,561,084 7,637,017 RGD:7240710
RGD:9068941
G DENND11 DENN domain containing 11 JBrowse link 16 7,531,025 7,559,156 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 1 48,943,472 48,955,158 RGD:9068941
senile cataract term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAT catalase JBrowse link 18 33,383,005 33,422,447 RGD:9068941
G CDKN1B cyclin dependent kinase inhibitor 1B JBrowse link 27 33,609,154 33,613,558 RGD:9068941
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 1 110,173,781 110,191,612 RGD:9068941
G GHR growth hormone receptor JBrowse link 4 67,021,821 67,245,499 RGD:9068941
G GPX1 glutathione peroxidase 1 JBrowse link 20 39,889,165 39,890,253 RGD:9068941
G GSR glutathione-disulfide reductase JBrowse link 16 33,633,949 33,680,411 RGD:9068941
G GSTP1 glutathione S-transferase pi 1 JBrowse link 18 49,905,161 49,908,182 RGD:9068941
G HSP70 heat shock protein 70 JBrowse link 12 1,285,282 1,287,670 RGD:9068941
G MT2A metallothionein 1H JBrowse link 2 59,607,926 59,608,825 RGD:9068941
G OGG1 8-oxoguanine DNA glycosylase JBrowse link 20 8,486,150 8,491,448 RGD:9068941
G SIRT1 sirtuin 1 JBrowse link 4 19,188,616 19,220,031 RGD:9068941
G WRN WRN RecQ like helicase JBrowse link 16 33,164,662 33,304,466 RGD:9068941
G XRCC1 X-ray repair cross complementing 1 JBrowse link 1 111,548,719 111,571,816 RGD:9068941
Spondyloocular Syndrome, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G XYLT2 xylosyltransferase 2 JBrowse link 9 26,316,812 26,329,333 RGD:9068941
Vici syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EPG5 ectopic P-granules autophagy protein 5 homolog JBrowse link 7 45,215,232 45,318,736 RGD:7240710
RGD:9068941
Warburg micro syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB18 RAB18, member RAS oncogene family JBrowse link 2 6,071,944 6,112,064 RGD:9068941
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 JBrowse link 19 37,861,844 38,006,433 RGD:12801476
RGD:9068941
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 38 14,927,670 15,025,554 RGD:9068941
G TBC1D20 TBC1 domain family member 20 JBrowse link 24 20,400,647 20,419,652 RGD:9068941
G ZRANB3 zinc finger RANBP2-type containing 3 JBrowse link 19 38,003,273 38,302,598 RGD:9068941
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 19 37,861,844 38,006,433 RGD:7240710
RGD:9068941
G ZRANB3 zinc finger RANBP2-type containing 3 JBrowse link 19 38,003,273 38,302,598 RGD:9068941
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 38 14,927,670 15,025,554 RGD:7240710
RGD:9068941
Warburg micro syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB18 RAB18, member RAS oncogene family JBrowse link 2 6,071,944 6,112,064 RGD:7240710
RGD:9068941
Warburg micro syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBC1D20 TBC1 domain family member 20 JBrowse link 24 20,400,647 20,419,652 RGD:7240710
RGD:9068941
Zonular Cataract and Nystagmus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NHS NHS actin remodeling regulator JBrowse link X 13,487,919 13,834,869 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12029
    sensory system disease 4361
      eye and adnexa disease 2145
        eye disease 2145
          lens disease 167
            Aphakia + 2
            Artificial Lens Implant Migration 0
            cataract + 160
            lens subluxation + 5
Path 2
Term Annotations click to browse term
  disease 12029
    disease of anatomical entity 11678
      nervous system disease 9370
        sensory system disease 4361
          eye and adnexa disease 2145
            eye disease 2145
              lens disease 167
                Aphakia + 2
                Artificial Lens Implant Migration 0
                cataract + 160
                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.