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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:isolated microphthalmia
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Accession:DOID:0080637 term browser browse the term
Definition:A microphthalmia that occurs by itself. (DO)


show annotations for term's descendants           Sort by:
isolated microphthalmia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VRK1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:77,429,970...77,514,217
Ensembl chr14:96,756,397...96,831,954 		JBrowse link
G VSX2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 2 | ClinVar Annotator: match by term: VSX2-related condition OMIM
ClinVar		 PMID:3378363 PMID:10932181 PMID:11341888 PMID:15257456 PMID:16199547 More... NCBI chr14:54,797,734...54,821,081 JBrowse link
isolated microphthalmia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPK2 alpha kinase 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:51,872,394...52,020,137 JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:51,035,483...51,187,461
Ensembl chr18:54,370,447...54,522,196 		JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:52,819,591...53,087,772
Ensembl chr18:56,149,036...56,412,222 		JBrowse link
G CPLX4 complexin 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:52,691,095...52,713,697
Ensembl chr18:55,998,958...56,040,108 		JBrowse link
G FECH ferrochelatase ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:50,934,520...50,977,132
Ensembl chr18:54,273,527...54,312,378 		JBrowse link
G GRP gastrin releasing peptide ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:52,614,169...52,626,427
Ensembl chr18:55,942,263...55,953,188 		JBrowse link
G LMAN1 lectin, mannose binding 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:52,722,735...52,754,013
Ensembl chr18:56,049,292...56,080,533 		JBrowse link
G LOC100979315 phorbol-12-myristate-13-acetate-induced protein 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:53,286,590...53,290,913
Ensembl chr18:56,611,098...56,615,449 		JBrowse link
G MALT1 MALT1 paracaspase ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:52,060,878...52,141,985
Ensembl chr18:55,395,462...55,473,574 		JBrowse link
G MC4R melanocortin 4 receptor ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:53,744,172...53,747,282
Ensembl chr18:57,069,259...57,070,257 		JBrowse link
G NARS1 asparaginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:50,991,047...51,011,628
Ensembl chr18:54,326,053...54,346,454 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:51,428,077...51,792,995
Ensembl chr18:54,867,149...55,123,423 		JBrowse link
G RAX retina and anterior neural fold homeobox ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 OMIM
ClinVar		 PMID:14662654 PMID:18783408 PMID:19158959 PMID:19935664 PMID:20494911 More... NCBI chr18:52,664,243...52,669,177
Ensembl chr18:55,990,984...55,995,469 		JBrowse link
G SEC11C SEC11 homolog C, signal peptidase complex subunit ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:52,534,718...52,553,726
Ensembl chr18:55,860,471...55,880,060 		JBrowse link
G ZNF532 zinc finger protein 532 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:52,257,241...52,380,431
Ensembl chr18:55,640,924...55,706,365 		JBrowse link
isolated microphthalmia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: Isolated microphthalmia 4 OMIM
ClinVar		 PMID:18425797 PMID:19129173 PMID:23307924 PMID:24033266 PMID:25741868 More... NCBI chr 8:92,767,401...92,785,955 JBrowse link
isolated microphthalmia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,987,709...114,001,354
Ensembl chr11:117,916,043...117,929,636 		JBrowse link
G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122 		JBrowse link
G APOA4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:111,659,186...111,661,790
Ensembl chr11:115,591,788...115,594,382 		JBrowse link
G APOC3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460 		JBrowse link
G ARCN1 archain 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,411,166...113,441,792
Ensembl chr11:117,341,427...117,371,589 		JBrowse link
G ARHGEF12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:115,173,575...115,327,040
Ensembl chr11:119,098,903...119,251,522 		JBrowse link
G ATP5MG ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,236,010...113,243,661
Ensembl chr11:117,167,404...117,200,030 		JBrowse link
G BACE1 beta-secretase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:112,120,950...112,151,505
Ensembl chr11:116,054,303...116,084,812 		JBrowse link
G BCL9L BCL9 like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,735,852...113,765,811
Ensembl chr11:117,666,995...117,678,598 		JBrowse link
G C1QTNF5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen ClinVar PMID:1258954 PMID:9536098 PMID:12140190 PMID:15976030 PMID:16199547 More... NCBI chr11:114,179,998...114,187,761
Ensembl chr11:118,107,706...118,108,774 		JBrowse link
G C2CD2L C2CD2 like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,944,939...113,955,296
Ensembl chr11:117,875,077...117,883,581 		JBrowse link
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671 		JBrowse link
G CENATAC centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,836,400...113,853,928
Ensembl chr11:117,766,526...117,784,125 		JBrowse link
G CEP164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:112,157,774...112,249,004
Ensembl chr11:116,106,847...116,180,516 		JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,722,084...113,735,987
Ensembl chr11:117,652,368...117,664,852 		JBrowse link
G DDX6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,587,220...113,630,995
Ensembl chr11:117,515,778...117,559,364 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,934,705...113,940,535
Ensembl chr11:117,863,866...117,870,204 		JBrowse link
G DRC12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:114,028,927...114,034,620
Ensembl chr11:117,956,945...117,962,655 		JBrowse link
G DSCAML1 DS cell adhesion molecule like 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:112,263,509...112,632,332
Ensembl chr11:116,196,677...116,302,262 		JBrowse link
G FOXR1 forkhead box R1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,809,875...113,819,093
Ensembl chr11:117,740,678...117,750,262 		JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:112,654,774...112,666,630
Ensembl chr11:116,587,226...116,595,197 		JBrowse link
G FXYD6 FXYD domain containing ion transport regulator 6 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:112,671,570...112,712,085
Ensembl chr11:116,606,903...116,609,890 		JBrowse link
G GRIK4 glutamate ionotropic receptor kainate type subunit 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:115,348,836...115,827,873
Ensembl chr11:119,564,412...119,750,000 		JBrowse link
G HINFP histone H4 transcription factor ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,959,670...113,973,781
Ensembl chr11:117,888,855...117,902,184 		JBrowse link
G HMBS hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,923,004...113,931,732
Ensembl chr11:117,852,295...117,860,757 		JBrowse link
G HYOU1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,882,418...113,895,438
Ensembl chr11:117,812,975...117,824,005 		JBrowse link
G IFT46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,382,150...113,404,866
Ensembl chr11:117,312,894...117,335,319 		JBrowse link
G IL10RA interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:112,820,445...112,835,603
Ensembl chr11:116,752,619...116,767,771 		JBrowse link
G JAML junction adhesion molecule like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,027,829...113,062,344
Ensembl chr11:116,960,436...116,994,373 		JBrowse link
G KMT2A lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,273,198...113,364,404
Ensembl chr11:117,204,820...117,290,100 		JBrowse link
G LOC100978919 T-cell surface glycoprotein CD3 epsilon chain ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,142,200...113,153,928
Ensembl chr11:117,074,041...117,085,625 		JBrowse link
G LOC100979261 T-cell surface glycoprotein CD3 gamma chain ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,179,270...113,190,104
Ensembl chr11:117,111,132...117,120,566 		JBrowse link
G LOC100979946 T-cell surface glycoprotein CD3 delta chain ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,174,007...113,179,244
Ensembl chr11:117,105,868...117,111,051 		JBrowse link
G LOC100994157 histone H2AX ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,932,078...113,933,679 JBrowse link
G MCAM melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:114,149,583...114,158,234
Ensembl chr11:118,078,179...118,083,893 		JBrowse link
G MFRP membrane frizzled-related protein ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen OMIM
ClinVar		 PMID:1258954 PMID:9536098 PMID:12140190 PMID:15976030 PMID:16199547 More... NCBI chr11:114,179,998...114,187,716
Ensembl chr11:118,107,317...118,115,050 		JBrowse link
G MPZL2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,063,961...113,102,097
Ensembl chr11:117,023,102...117,034,209 		JBrowse link
G MPZL3 myelin protein zero like 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,063,957...113,089,929
Ensembl chr11:116,996,090...117,022,051 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:114,497,177...114,565,338
Ensembl chr11:118,401,321...118,493,090 		JBrowse link
G NHERF4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:114,024,150...114,028,884
Ensembl chr11:117,952,154...117,956,879 		JBrowse link
G NLRX1 NLR family member X1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:114,007,415...114,022,712
Ensembl chr11:117,935,444...117,950,728 		JBrowse link
G OAF out at first homolog ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:115,045,790...115,065,032
Ensembl chr11:118,972,574...118,991,170 		JBrowse link
G PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:111,978,368...112,005,064
Ensembl chr11:115,911,803...115,944,351 		JBrowse link
G PCSK7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:112,035,502...112,066,170
Ensembl chr11:115,972,414...115,999,748 		JBrowse link
G PHLDB1 pleckstrin homology like domain family B member 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,446,275...113,496,941
Ensembl chr11:117,376,205...117,426,391 		JBrowse link
G POU2F3 POU class 2 homeobox 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:115,075,399...115,156,307
Ensembl chr11:119,001,408...119,082,531 		JBrowse link
G RNF214 ring finger protein 214 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:112,066,666...112,121,051
Ensembl chr11:116,002,034...116,054,282 		JBrowse link
G RNF26 ring finger protein 26 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:114,175,586...114,178,379
Ensembl chr11:118,103,505...118,104,806 		JBrowse link
G RPS25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,853,891...113,856,636
Ensembl chr11:117,784,075...117,787,104 		JBrowse link
G SC5D sterol-C5-desaturase ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:116,139,979...116,160,745
Ensembl chr11:120,063,743...120,078,386 		JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:112,996,609...113,010,412
Ensembl chr11:116,928,676...116,942,500 		JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:112,967,190...112,986,727
Ensembl chr11:116,899,268...116,918,892 		JBrowse link
G SIDT2 SID1 transmembrane family member 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:112,012,734...112,031,403
Ensembl chr11:115,946,725...115,963,408 		JBrowse link
G SIK3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:111,680,884...111,932,424
Ensembl chr11:115,613,478...115,730,158 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,862,537...113,869,447
Ensembl chr11:117,792,700...117,799,269 		JBrowse link
G SORL1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:116,297,014...116,477,399
Ensembl chr11:120,222,491...120,402,432 		JBrowse link
G TAGLN transgelin ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:112,033,257...112,038,749
Ensembl chr11:115,966,516...115,972,129 		JBrowse link
G THY1 Thy-1 cell surface antigen ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:114,253,535...114,259,495
Ensembl chr11:118,180,717...118,186,901 		JBrowse link
G TLCD5 TLC domain containing 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:115,161,556...115,170,850
Ensembl chr11:119,087,580...119,093,621 		JBrowse link
G TMEM25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,368,595...113,384,290
Ensembl chr11:117,299,183...117,314,494 		JBrowse link
G TMPRSS13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:112,735,048...112,763,561
Ensembl chr11:116,666,773...116,686,762 		JBrowse link
G TMPRSS4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:112,910,223...112,953,677
Ensembl chr11:116,843,287...116,884,767 		JBrowse link
G TRAPPC4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,856,661...113,861,855
Ensembl chr11:117,786,838...117,793,395 		JBrowse link
G TREH trehalase ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,496,561...113,519,230
Ensembl chr11:117,426,597...117,448,445 		JBrowse link
G TRIM29 tripartite motif containing 29 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:114,946,176...114,973,186
Ensembl chr11:118,872,831...118,899,708 		JBrowse link
G TTC36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,364,559...113,368,586
Ensembl chr11:117,295,191...117,298,928 		JBrowse link
G UBE4A ubiquitination factor E4A ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,193,986...113,233,660
Ensembl chr11:117,131,100...117,162,385 		JBrowse link
G UPK2 uroplakin 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,768,506...113,796,564
Ensembl chr11:117,724,038...117,726,313 		JBrowse link
G USP2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:114,196,725...114,223,411
Ensembl chr11:118,124,350...118,150,868 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr11:113,905,989...113,920,163
Ensembl chr11:117,835,557...117,849,389 		JBrowse link
isolated microphthalmia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1QTNF5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 6 ClinVar PMID:19169412 PMID:25741868 PMID:28492532 NCBI chr11:114,179,998...114,187,761
Ensembl chr11:118,107,706...118,108,774 		JBrowse link
G MFRP membrane frizzled-related protein ISO ClinVar Annotator: match by term: Isolated microphthalmia 6 ClinVar PMID:19169412 PMID:25741868 PMID:28492532 NCBI chr11:114,179,998...114,187,716
Ensembl chr11:118,107,317...118,115,050 		JBrowse link
G PRSS56 serine protease 56 ISO ClinVar Annotator: match by term: Isolated microphthalmia 6 | ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC OMIM
ClinVar		 PMID:9536098 PMID:15823920 PMID:17576681 PMID:19526372 PMID:21397065 More... NCBI chr2B:119,751,950...119,757,308
Ensembl chr2B:238,670,931...238,675,839 		JBrowse link
G VSX2 visual system homeobox 2 ISO ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC ClinVar NCBI chr14:54,797,734...54,821,081 JBrowse link
isolated microphthalmia 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 7 OMIM
ClinVar		 PMID:19864492 PMID:25741868 PMID:28492532 NCBI chr12:7,813,288...7,819,418
Ensembl chr12:7,972,907...7,979,815 		JBrowse link
isolated microphthalmia 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH1A3 aldehyde dehydrogenase 1 family member A3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 8 OMIM
ClinVar		 PMID:23312594 PMID:23591992 PMID:23646827 PMID:24777706 PMID:25741868 More... NCBI chr15:79,603,893...79,640,866
Ensembl chr15:98,891,770...98,928,396 		JBrowse link
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C15H14orf39 chromosome 15 C14orf39 homolog ISO ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus ClinVar PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr14:41,040,315...41,090,267
Ensembl chr14:59,304,040...59,351,956 		JBrowse link
G SIX6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus ClinVar PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr14:41,113,282...41,117,018
Ensembl chr14:59,376,109...59,378,691 		JBrowse link
Isolated Microphthalmia with Cataract 4 term browser
Symbol Object Name 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 chr22:7,683,356...7,692,532
Ensembl chr22:25,405,980...25,414,643 		JBrowse link
Isolated Microphthalmia with Coloboma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STRA6 signaling receptor and transporter of retinol STRA6 ISO DNA:missense mutation:CDS:p.G204K (human) RGD PMID:21901792 RGD:155631284 NCBI chr15:53,117,891...53,150,790
Ensembl chr15:72,741,482...72,770,876 		JBrowse link
Isolated Microphthalmia with Coloboma 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VSX2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 3 OMIM
ClinVar		 PMID:11341888 PMID:15257456 PMID:16199547 PMID:17661825 PMID:20414678 More... NCBI chr14:54,797,734...54,821,081 JBrowse link
Isolated Microphthalmia with Coloboma 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SHH sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 5 OMIM
ClinVar		 PMID:9302262 PMID:10556296 PMID:12503095 PMID:12709790 PMID:15292211 More... NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651 		JBrowse link
Isolated Microphthalmia with Coloboma 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6 OMIM
ClinVar		 PMID:19864492 PMID:24281366 PMID:25741868 PMID:28492532 NCBI chr12:7,813,288...7,819,418
Ensembl chr12:7,972,907...7,979,815 		JBrowse link
G GDF6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6 OMIM
ClinVar		 PMID:18425797 PMID:19129173 PMID:19864492 PMID:23307924 PMID:24033266 More... NCBI chr 8:92,767,401...92,785,955 JBrowse link
Isolated Microphthalmia with Coloboma 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB6 ATP binding cassette subfamily B member 6 (LAN blood group) ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 7 OMIM
ClinVar		 PMID:2998465 PMID:15142123 PMID:19504436 PMID:22226084 PMID:23180570 More... NCBI chr2B:106,467,345...106,476,614
Ensembl chr2B:225,058,771...225,067,626 		JBrowse link
Microphthalmia/Coloboma 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RBP4 retinol binding protein 4 ISO ClinVar Annotator: match by term: MICROPHTHALMIA/COLOBOMA 10 | ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 10 OMIM
ClinVar		 PMID:25741868 PMID:25910211 NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887 		JBrowse link
Microphthalmia/Coloboma 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FZD5 frizzled class receptor 5 ISO ClinVar Annotator: match by term: Microphthalmia/coloboma 11 OMIM
ClinVar		 PMID:25741868 PMID:26908622 PMID:32737437 PMID:33633439 NCBI chr2B:95,003,246...95,010,577
Ensembl chr2B:213,133,017...213,134,774 		JBrowse link
Microphthalmia/Coloboma 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAX6 paired box 6 ISO OMIM NCBI chr11:31,753,190...31,782,225
Ensembl chr11:31,641,813...31,664,474 		JBrowse link
Microphthalmia/Coloboma 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TENM3 teneurin transmembrane protein 3 ISO ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 15 | ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 9 OMIM
ClinVar		 PMID:22766609 PMID:25741868 PMID:27103084 PMID:28492532 PMID:29753094 More... NCBI chr 4:173,644,674...174,993,218
Ensembl chr 4:186,738,624...187,214,394 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6626
      eye disease 3377
        microphthalmia 204
          isolated microphthalmia 101
            Isolated Microphthalmia with Cataract 1 0
            Isolated Microphthalmia with Cataract 2 2
            Isolated Microphthalmia with Cataract 3 0
            Isolated Microphthalmia with Cataract 4 1
            Isolated Microphthalmia with Coloboma + 10
            Isolated Microphthalmia with Corectopia 0
            isolated microphthalmia 1 0
            isolated microphthalmia 2 2
            isolated microphthalmia 3 15
            isolated microphthalmia 4 1
            isolated microphthalmia 5 70
            isolated microphthalmia 6 4
            isolated microphthalmia 7 1
            isolated microphthalmia 8 1
Path 2
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12035
      Signs and Symptoms 9967
        Neurologic Manifestations 9644
          sensory system disease 6626
            eye disease 3377
              Eye Abnormalities 771
                microphthalmia 204
                  isolated microphthalmia 101
                    Isolated Microphthalmia with Cataract 1 0
                    Isolated Microphthalmia with Cataract 2 2
                    Isolated Microphthalmia with Cataract 3 0
                    Isolated Microphthalmia with Cataract 4 1
                    Isolated Microphthalmia with Coloboma + 10
                    Isolated Microphthalmia with Corectopia 0
                    isolated microphthalmia 1 0
                    isolated microphthalmia 2 2
                    isolated microphthalmia 3 15
                    isolated microphthalmia 4 1
                    isolated microphthalmia 5 70
                    isolated microphthalmia 6 4
                    isolated microphthalmia 7 1
                    isolated microphthalmia 8 1
paths to the root