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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 chr 8:65,444,404...65,551,348
Ensembl chr 8:65,443,949...65,551,151 		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 chr 8:47,455,337...47,473,786
Ensembl chr 8:47,455,340...47,473,684 		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 chr 1:17,421,673...17,563,732
Ensembl chr 1:17,445,543...17,583,600 		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 chr 1:18,156,664...18,279,131
Ensembl chr 1:18,156,410...18,277,904 		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 chr 1:16,597,389...16,819,888
Ensembl chr 1:16,597,334...16,819,894 		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 chr 1:16,900,078...16,922,914
Ensembl chr 1:16,900,826...16,922,140 		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 chr 1:18,352,184...18,384,251
Ensembl chr 1:18,345,811...18,383,092 		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 chr 1:16,974,818...16,987,578
Ensembl chr 1:16,975,113...16,987,531 		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 chr 1:16,869,106...16,897,911
Ensembl chr 1:16,869,121...16,894,786 		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 chr 1:17,351,458...17,412,591
Ensembl chr 1:17,354,926...17,403,927 		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 chr 1:16,131,829...16,132,827
Ensembl chr 1:16,131,589...16,133,079 		JBrowse link
G MIR122 microRNA mir-122 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr 1:17,593,858...17,593,915
Ensembl chr 1:17,593,837...17,593,929 		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 chr 1:18,320,941...18,338,185
Ensembl chr 1:18,321,021...18,337,430 		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 chr 1:17,629,163...17,858,471
Ensembl chr 1:17,633,591...17,950,072 		JBrowse link
G PMAIP1 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 chr 1:16,469,793...16,472,910
Ensembl chr 1:16,469,793...16,472,910 		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 chr 1:16,940,671...16,945,127
Ensembl chr 1:16,940,658...16,943,633 		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 chr 1:17,020,606...17,036,149
Ensembl chr 1:17,020,493...17,036,187 		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 chr 1:17,152,676...17,256,895
Ensembl chr 1:17,154,193...17,257,227 		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 chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174 		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 chr 5:14,707,964...14,720,782
Ensembl chr 5:14,707,960...14,721,240 		JBrowse link
G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943 		JBrowse link
G APOA4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:16,751,588...16,754,215
Ensembl chr 5:16,751,799...16,754,837 		JBrowse link
G APOC3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:16,744,423...16,746,992
Ensembl chr 5:16,744,423...16,746,992 		JBrowse link
G ARCN1 archain 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:15,141,861...15,171,642
Ensembl chr 5:15,143,499...15,171,586 		JBrowse link
G ARHGEF12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:13,519,094...13,669,154
Ensembl chr 5:13,522,896...13,669,155 		JBrowse link
G ATP5MG ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:15,329,060...15,336,344 JBrowse link
G BACE1 beta-secretase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:16,308,953...16,319,100
Ensembl chr 5:16,308,944...16,319,100 		JBrowse link
G BCL9L BCL9 like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:14,893,548...14,919,121
Ensembl chr 5:14,900,208...14,919,193 		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 chr 5:14,561,115...14,563,277
Ensembl chr 5:14,562,350...14,563,309 		JBrowse link
G C2CD2L C2CD2 like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:14,746,613...14,755,952
Ensembl chr 5:14,747,208...14,755,925 		JBrowse link
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956 		JBrowse link
G CD3D CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:15,392,841...15,396,745
Ensembl chr 5:15,389,243...15,396,750 		JBrowse link
G CD3E CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:15,403,724...15,415,259
Ensembl chr 5:15,403,710...15,415,260 		JBrowse link
G CD3G CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:15,379,788...15,391,271
Ensembl chr 5:15,380,633...15,391,214 		JBrowse link
G CENATAC centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:14,836,293...14,843,731
Ensembl chr 5:14,836,291...14,843,875 		JBrowse link
G CEP164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:16,227,369...16,290,781
Ensembl chr 5:16,227,292...16,291,229 		JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:14,921,447...14,932,937
Ensembl chr 5:14,923,089...14,932,762 		JBrowse link
G DDX6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:15,001,988...15,034,128
Ensembl chr 5:15,002,246...15,032,348 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:14,760,518...14,765,306
Ensembl chr 5:14,760,784...14,764,967 		JBrowse link
G DRC12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:14,679,180...14,686,446
Ensembl chr 5:14,682,004...14,686,150 		JBrowse link
G DSCAML1 DS cell adhesion molecule like 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:15,839,504...16,187,465
Ensembl chr 5:15,826,726...16,186,880 		JBrowse link
G FOXR1 forkhead box R1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:14,852,381...14,861,364
Ensembl chr 5:14,852,205...14,861,728 		JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:15,812,335...15,824,552
Ensembl chr 5:15,815,969...15,823,057 		JBrowse link
G FXYD6 FXYD domain containing ion transport regulator 6 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:15,801,790...15,807,601
Ensembl chr 5:15,771,390...15,807,601 		JBrowse link
G GRIK4 glutamate ionotropic receptor kainate type subunit 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:13,075,323...13,453,458
Ensembl chr 5:13,073,968...13,370,034 		JBrowse link
G H2AX H2A.X variant histone ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:14,765,625...14,766,590
Ensembl chr 5:14,766,126...14,766,557 		JBrowse link
G HINFP histone H4 transcription factor ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:14,731,592...14,742,893
Ensembl chr 5:14,731,588...14,742,559 		JBrowse link
G HMBS hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:14,767,306...14,775,205
Ensembl chr 5:14,767,666...14,775,082 		JBrowse link
G HYOU1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:14,795,750...14,808,203
Ensembl chr 5:14,795,750...14,807,262 		JBrowse link
G IFT46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:15,179,287...15,197,737
Ensembl chr 5:15,170,854...15,197,736 		JBrowse link
G IL10RA interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:15,675,775...15,688,935
Ensembl chr 5:15,677,547...15,682,163 		JBrowse link
G JAML junction adhesion molecule like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:15,485,378...15,513,457
Ensembl chr 5:15,476,582...15,513,075 		JBrowse link
G KMT2A lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:15,212,559...15,302,825
Ensembl chr 5:15,217,348...15,270,971 		JBrowse link
G MCAM melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:14,590,252...14,598,901
Ensembl chr 5:14,567,238...14,598,149 		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 chr 5:14,555,619...14,561,577
Ensembl chr 5:14,556,065...14,561,623 		JBrowse link
G MPZL2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:15,446,803...15,458,667
Ensembl chr 5:15,447,104...15,458,515 		JBrowse link
G MPZL3 myelin protein zero like 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:15,460,147...15,485,274
Ensembl chr 5:15,460,211...15,484,202 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:14,228,197...14,292,825
Ensembl chr 5:14,228,197...14,315,060 		JBrowse link
G NHERF4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:14,687,868...14,692,474
Ensembl chr 5:14,687,905...14,692,128 		JBrowse link
G NLRX1 NLR family member X1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:14,692,621...14,705,214
Ensembl chr 5:14,564,935...14,705,257 		JBrowse link
G OAF out at first homolog ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:13,771,208...13,798,387
Ensembl chr 5:13,771,659...13,783,190 		JBrowse link
G PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532
G PCSK7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:16,367,737...16,389,991
Ensembl chr 5:16,367,116...16,390,006 		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 chr 5:15,090,823...15,138,397
Ensembl chr 5:15,090,813...15,134,784 		JBrowse link
G POU2F3 POU class 2 homeobox 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:13,693,686...13,761,295
Ensembl chr 5:13,688,959...13,761,847 		JBrowse link
G RNF214 ring finger protein 214 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:16,319,460...16,364,301
Ensembl chr 5:16,319,698...16,364,493 		JBrowse link
G RNF26 ring finger protein 26 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:14,564,949...14,567,756 JBrowse link
G RPS25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:14,833,804...14,836,376
Ensembl chr 5:14,833,918...14,836,749 		JBrowse link
G SC5D sterol-C5-desaturase ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:12,760,591...12,774,484
Ensembl chr 5:12,763,286...12,775,393 		JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:15,514,760...15,534,179
Ensembl chr 5:15,521,481...15,534,179 		JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:15,552,347...15,564,085
Ensembl chr 5:15,543,632...15,563,486 		JBrowse link
G SIDT2 SID1 transmembrane family member 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:16,397,532...16,410,827
Ensembl chr 5:16,398,815...16,411,268 		JBrowse link
G SIK3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:16,623,756...16,733,259
Ensembl chr 5:16,527,504...16,733,243 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:14,823,485...14,830,007
Ensembl chr 5:14,823,499...14,830,004 		JBrowse link
G SORL1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:12,493,750...12,650,530
Ensembl chr 5:12,431,377...12,650,784 		JBrowse link
G TAGLN transgelin ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:16,390,259...16,395,471
Ensembl chr 5:16,390,573...16,397,207 		JBrowse link
G TBCEL tubulin folding cofactor E like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:12,963,356...13,035,525
Ensembl chr 5:12,964,523...13,035,613 		JBrowse link
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:12,879,963...12,949,211
Ensembl chr 5:12,879,951...12,949,147 		JBrowse link
G THY1 Thy-1 cell surface antigen ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:14,503,902...14,509,113
Ensembl chr 5:14,503,902...14,509,113 		JBrowse link
G TLCD5 TLC domain containing 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:13,673,059...13,681,139
Ensembl chr 5:13,675,878...13,681,287 		JBrowse link
G TMEM25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:15,202,726...15,207,252
Ensembl chr 5:15,203,974...15,206,704 		JBrowse link
G TMPRSS13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:15,726,007...15,754,767
Ensembl chr 5:15,700,458...15,753,543 		JBrowse link
G TMPRSS4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:15,575,068...15,609,819
Ensembl chr 5:15,575,338...15,610,190 		JBrowse link
G TRAPPC4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:14,830,604...14,833,444
Ensembl chr 5:14,830,611...14,833,447 		JBrowse link
G TREH trehalase ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:15,085,038...15,090,667
Ensembl chr 5:15,071,802...15,090,522 		JBrowse link
G TRIM29 tripartite motif containing 29 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:13,853,514...13,880,517
Ensembl chr 5:13,853,553...13,880,073 		JBrowse link
G TTC36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:15,207,400...15,211,905
Ensembl chr 5:15,207,403...15,211,853 		JBrowse link
G UBE4A ubiquitination factor E4A ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:15,338,279...15,375,722
Ensembl chr 5:15,341,141...15,370,294 		JBrowse link
G UPK2 uroplakin 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:14,868,064...14,872,527
Ensembl chr 5:14,868,051...14,871,153 		JBrowse link
G USP2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 5:14,525,685...14,550,914
Ensembl chr 5:14,525,797...14,549,291 		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 chr 5:14,776,975...14,786,736
Ensembl chr 5:14,776,976...14,786,692 		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 chr 5:14,561,115...14,563,277
Ensembl chr 5:14,562,350...14,563,309 		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 chr 5:14,555,619...14,561,577
Ensembl chr 5:14,556,065...14,561,623 		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 chr25:44,157,247...44,165,625
Ensembl chr25:44,160,615...44,165,625 		JBrowse link
G VSX2 visual system homeobox 2 ISO ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC ClinVar NCBI chr 8:47,455,337...47,473,786
Ensembl chr 8:47,455,340...47,473,684 		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 chr27:37,125,845...37,129,567
Ensembl chr27:37,125,928...37,129,484 		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 chr 3:40,130,904...40,168,686
Ensembl chr 3:40,132,726...40,168,664 		JBrowse link
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C8H14orf39 chromosome 8 C14orf39 homolog ISO ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus ClinVar PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr 8:35,486,476...35,542,214
Ensembl chr 8:35,487,228...35,542,218 		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 chr 8:35,565,838...35,568,423
Ensembl chr 8:35,566,018...35,567,838 		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 chr26:20,272,962...20,280,368
Ensembl chr26:20,273,739...20,280,367 		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 chr30:37,331,834...37,359,449
Ensembl chr30:37,331,832...37,353,529 		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 chr 8:47,455,337...47,473,786
Ensembl chr 8:47,455,340...47,473,684 		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 chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903 		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 chr27:37,125,845...37,129,567
Ensembl chr27:37,125,928...37,129,484 		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 chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174 		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 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 chr37:25,760,478...25,767,753
Ensembl chr37:25,760,477...25,769,841 		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
IAGP		 ClinVar Annotator: match by term: MICROPHTHALMIA/COLOBOMA 10 | ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 10 OMIM
ClinVar
OMIA		 PMID:25741868 PMID:25910211 PMID:29847795 NCBI chr28:7,822,936...7,830,735
Ensembl chr28:7,822,944...7,830,750 		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 chr37:16,123,788...16,126,634
Ensembl chr37:16,123,798...16,125,567 		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
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 chr16:47,440,673...47,883,311
Ensembl chr16:47,441,348...48,044,322
Ensembl chr16:47,441,348...48,044,322 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    sensory system disease 6587
      eye disease 3363
        microphthalmia 207
          isolated microphthalmia 104
            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 16
            isolated microphthalmia 4 1
            isolated microphthalmia 5 72
            isolated microphthalmia 6 4
            isolated microphthalmia 7 1
            isolated microphthalmia 8 1
Path 2
Term Annotations click to browse term
  disease 17774
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6587
            eye disease 3363
              Eye Abnormalities 774
                microphthalmia 207
                  isolated microphthalmia 104
                    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 16
                    isolated microphthalmia 4 1
                    isolated microphthalmia 5 72
                    isolated microphthalmia 6 4
                    isolated microphthalmia 7 1
                    isolated microphthalmia 8 1
paths to the root