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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:syndromic microphthalmia
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Accession:DOID:0080636 term browser browse the term
Definition:A microphthalmia that occurs as part of a syndrome that affects other organs and tissues in the body. (DO)
Synonyms:narrow_synonym: syndromic microphthalmia, dominant
 xref: OMIM:PS309800

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show annotations for term's descendants           Sort by:
syndromic microphthalmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955466:10,755,143...10,764,957
Ensembl chrNW_004955466:10,755,012...10,765,095 		JBrowse link
linear skin defects with multiple congenital anomalies 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102006165 cytochrome c-type heme lyase ISO ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1 OMIM
ClinVar		 PMID:16059943 PMID:17033964 PMID:17893649 PMID:25741868 NCBI chrNW_004955544:2,105,486...2,117,830
Ensembl chrNW_004955544:2,103,815...2,117,838 		JBrowse link
G LOC102020494 cytochrome c oxidase subunit 7B, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955557:1,341,934...1,348,610
Ensembl chrNW_004955557:1,341,934...1,348,610 		JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1 ClinVar PMID:25741868 PMID:25772934 NCBI chrNW_004955516:934,740...937,207
Ensembl chrNW_004955516:934,740...937,207 		JBrowse link
syndromic microphthalmia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcor BCL6 corepressor ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 1 ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chrNW_004955566:1,412,540...1,510,339
Ensembl chrNW_004955566:1,412,540...1,457,329 		JBrowse link
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 1 OMIM
ClinVar		 PMID:1679229 PMID:11426460 PMID:16114045 PMID:24033266 PMID:24431331 More... NCBI chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608 		JBrowse link
syndromic microphthalmia 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vax1 ventral anterior homeobox 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 OMIM
ClinVar		 PMID:22095910 PMID:25741868 PMID:28492532 NCBI chrNW_004955431:21,853,636...21,857,547
Ensembl chrNW_004955431:21,853,636...21,857,547 		JBrowse link
syndromic microphthalmia 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ngly1 N-glycanase 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 12 ClinVar PMID:24651605 PMID:28492532 NCBI chrNW_004955430:17,564,319...17,645,564
Ensembl chrNW_004955430:17,564,319...17,645,564 		JBrowse link
G Rarb retinoic acid receptor beta ISO ClinVar Annotator: match by term: MICROPHTHALMIA WITH OR WITHOUT PULMONARY HYPOPLASIA, DIAPHRAGMATIC HERNIA, AND/OR CARDIAC DEFECTS | ClinVar Annotator: match by term: Microphthalmia, syndromic 12 OMIM
ClinVar		 PMID:14973393 PMID:16199547 PMID:17506106 PMID:24075189 PMID:24651605 More... NCBI chrNW_004955430:17,067,536...17,457,558
Ensembl chrNW_004955430:17,295,174...17,460,045 		JBrowse link
G Top2b DNA topoisomerase II beta ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 12 ClinVar PMID:24651605 PMID:28492532 NCBI chrNW_004955430:17,457,603...17,523,115
Ensembl chrNW_004955430:17,457,603...17,507,012 		JBrowse link
syndromic microphthalmia 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmgb3 high mobility group box 3 ISO OMIM NCBI chrNW_004955498:6,633,540...6,640,393
Ensembl chrNW_004955498:6,633,336...6,640,459 		JBrowse link
syndromic microphthalmia 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Colobomatous microphthalmia-rhizomelic dysplasia syndrome ClinVar PMID:24906020 PMID:25719200 PMID:25741868 PMID:25741913 PMID:32860008 More... NCBI chrNW_004955471:5,052,535...5,649,696
Ensembl chrNW_004955471:5,053,487...5,649,476 		JBrowse link
G Mab21l2 mab-21 like 2 ISO ClinVar Annotator: match by term: Colobomatous microphthalmia-rhizomelic dysplasia syndrome OMIM
ClinVar		 PMID:24906020 PMID:25719200 PMID:25741868 PMID:25741913 PMID:32860008 More... NCBI chrNW_004955471:5,296,292...5,298,432
Ensembl chrNW_004955471:5,297,259...5,298,338 		JBrowse link
syndromic microphthalmia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Oculofaciocardiodental syndrome ClinVar PMID:28492532 NCBI chrNW_004955565:2,006,154...2,029,921 JBrowse link
G Bcor BCL6 corepressor ISO ClinVar Annotator: match by term: BCOR-related condition | ClinVar Annotator: match by term: Oculofaciocardiodental syndrome OMIM
ClinVar		 PMID:15004558 PMID:15770227 PMID:16199547 PMID:16829040 PMID:18414213 More... NCBI chrNW_004955566:1,412,540...1,510,339
Ensembl chrNW_004955566:1,412,540...1,457,329 		JBrowse link
syndromic microphthalmia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actl6a actin like 6A ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chrNW_004955420:8,745,390...8,764,993
Ensembl chrNW_004955420:8,744,597...8,764,993 		JBrowse link
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chrNW_004955420:9,689,076...9,727,806
Ensembl chrNW_004955420:9,690,295...9,727,835 		JBrowse link
G CUNH14orf39 chromosome unknown C14orf39 homolog ISO ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955466:9,158,022...9,194,088
Ensembl chrNW_004955466:9,157,944...9,195,226 		JBrowse link
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chrNW_004955420:9,974,466...9,978,789
Ensembl chrNW_004955420:9,953,045...9,978,789 		JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chrNW_004955420:9,903,736...9,966,100
Ensembl chrNW_004955420:9,903,736...9,966,100 		JBrowse link
G Mrpl47 mitochondrial ribosomal protein L47 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chrNW_004955420:8,765,131...8,778,172 JBrowse link
G Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chrNW_004955420:8,778,271...8,793,634 JBrowse link
G Pex5l peroxisomal biogenesis factor 5 like ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chrNW_004955420:8,924,399...9,146,309
Ensembl chrNW_004955420:8,930,992...9,146,215 		JBrowse link
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955466:9,120,227...9,122,109
Ensembl chrNW_004955466:9,120,227...9,122,109 		JBrowse link
G Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia | ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome OMIM
ClinVar		 PMID:12002146 PMID:12612584 PMID:15346919 PMID:15389708 PMID:15812812 More... NCBI chrNW_004955420:10,671,888...10,674,080
Ensembl chrNW_004955420:10,671,978...10,672,934 		JBrowse link
G Ttc14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chrNW_004955420:9,677,626...9,687,008
Ensembl chrNW_004955420:9,677,762...9,686,594 		JBrowse link
G Usp13 ubiquitin specific peptidase 13 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chrNW_004955420:8,835,858...8,919,837
Ensembl chrNW_004955420:8,835,549...8,919,933 		JBrowse link
syndromic microphthalmia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam17 ADAM metallopeptidase domain 17 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955487:5,180,241...5,218,298
Ensembl chrNW_004955487:5,180,252...5,218,216 		JBrowse link
G Arr3 arrestin 3 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chrNW_004955475:9,819,783...9,835,526
Ensembl chrNW_004955475:9,819,792...9,835,200 		JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:21106365 PMID:24326041 PMID:24755471 PMID:25231023 PMID:25741868 More... NCBI chrNW_004955484:7,782,409...7,861,082
Ensembl chrNW_004955484:7,782,772...7,860,967 		JBrowse link
G Cep83 centrosomal protein 83 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955405:31,024,524...31,165,824
Ensembl chrNW_004955405:31,024,522...31,165,824 		JBrowse link
G Chrd chordin ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955420:23,111,690...23,120,038
Ensembl chrNW_004955420:23,112,093...23,120,036 		JBrowse link
G CUNH14orf39 chromosome unknown C14orf39 homolog ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:24875647 PMID:25741868 PMID:28492532 NCBI chrNW_004955466:9,158,022...9,194,088
Ensembl chrNW_004955466:9,157,944...9,195,226 		JBrowse link
G Dicer1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chrNW_004955438:17,374,899...17,431,599
Ensembl chrNW_004955438:17,382,493...17,431,797 		JBrowse link
G Efhd1 EF-hand domain family member D1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955453:3,344,919...3,378,157 JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:28492532 NCBI chrNW_004955476:9,850,110...10,054,313
Ensembl chrNW_004955476:9,849,365...10,054,583 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chrNW_004955428:15,621,333...15,812,167
Ensembl chrNW_004955428:15,622,498...15,810,896 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26467025 PMID:26893459 PMID:28492532 NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:24700879 PMID:25353622 PMID:26893459 PMID:28492532 PMID:31308072 More... NCBI chrNW_004955433:2,547,228...2,957,294
Ensembl chrNW_004955433:2,547,323...2,957,495 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chrNW_004955459:8,892,917...9,124,672
Ensembl chrNW_004955459:8,892,869...9,118,499 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chrNW_004955469:9,418,599...9,455,026
Ensembl chrNW_004955469:9,418,609...9,455,026 		JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955469:9,416,732...9,418,523
Ensembl chrNW_004955469:9,416,732...9,418,523 		JBrowse link
G Map3k1 mitogen-activated protein kinase kinase kinase 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955446:11,022,091...11,090,136
Ensembl chrNW_004955446:11,021,971...11,090,136 		JBrowse link
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955421:17,948,117...18,157,379
Ensembl chrNW_004955421:17,947,277...18,154,090 		JBrowse link
G Myo1c myosin IC ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955481:1,676,788...1,701,421
Ensembl chrNW_004955481:1,676,728...1,703,488 		JBrowse link
G Ndst2 N-deacetylase and N-sulfotransferase 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955437:18,090,198...18,099,328
Ensembl chrNW_004955437:18,090,198...18,099,328 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chrNW_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259 		JBrowse link
G Notch4 notch receptor 4 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chrNW_004955437:658,076...679,338 JBrowse link
G Nr5a2 nuclear receptor subfamily 5 group A member 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955406:36,263,257...36,415,494
Ensembl chrNW_004955406:36,263,184...36,415,525 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome | ClinVar Annotator: match by term: OTX2-Related Syndromic Microphthalmia | ClinVar Annotator: match by term: Syndromic microphthalmia type 5 OMIM
ClinVar		 PMID:15846561 PMID:16607563 PMID:17541950 PMID:18628516 PMID:18781617 More... NCBI chrNW_004955466:10,755,143...10,764,957
Ensembl chrNW_004955466:10,755,012...10,765,095 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:9727514 PMID:12868034 PMID:15086958 PMID:16407227 PMID:17417613 More... NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162 		JBrowse link
G Pfkp phosphofructokinase, platelet ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955421:28,042,973...28,098,358
Ensembl chrNW_004955421:28,043,271...28,086,796 		JBrowse link
G Plxnc1 plexin C1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955405:30,885,277...31,023,947
Ensembl chrNW_004955405:30,885,278...31,021,544 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:16231297 PMID:23334667 PMID:24728327 PMID:25567908 PMID:25741868 More... NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622 		JBrowse link
G Rax retina and anterior neural fold homeobox ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar NCBI chrNW_004955402:43,408,933...43,414,697
Ensembl chrNW_004955402:43,410,404...43,414,306 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chrNW_004955550:2,015,319...2,073,627
Ensembl chrNW_004955550:2,021,838...2,073,498 		JBrowse link
G Sall3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955402:62,157,988...62,163,977
Ensembl chrNW_004955402:62,157,970...62,163,057 		JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955493:7,059,865...7,080,524
Ensembl chrNW_004955493:7,059,865...7,081,038 		JBrowse link
G Sfrp2 secreted frizzled related protein 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955471:8,103,937...8,112,596
Ensembl chrNW_004955471:8,103,783...8,112,321 		JBrowse link
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:24875647 PMID:25741868 PMID:28492532 NCBI chrNW_004955466:9,120,227...9,122,109
Ensembl chrNW_004955466:9,120,227...9,122,109 		JBrowse link
G Sox14 SRY-box transcription factor 14 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955501:1,155,920...1,157,870
Ensembl chrNW_004955501:1,156,670...1,157,392 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955450:3,579,081...3,602,538
Ensembl chrNW_004955450:3,580,662...3,602,600 		JBrowse link
G Sulf1 sulfatase 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chrNW_004955444:9,902,334...10,066,929
Ensembl chrNW_004955444:9,899,941...9,974,666 		JBrowse link
G Tamalin trafficking regulator and scaffold protein tamalin ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955547:2,377,612...2,385,918
Ensembl chrNW_004955547:2,377,702...2,385,277 		JBrowse link
G Tshz2 teashirt zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955445:5,571,587...5,830,728
Ensembl chrNW_004955445:5,384,946...5,829,954 		JBrowse link
G Vax2 ventral anterior homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955424:14,283,336...14,309,809
Ensembl chrNW_004955424:14,283,327...14,309,809 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:20414678 PMID:21976963 PMID:24033328 PMID:26893459 PMID:28492532 More... NCBI chrNW_004955523:1,192,035...1,207,949
Ensembl chrNW_004955523:1,193,686...1,210,641 		JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955429:12,647,993...12,693,998
Ensembl chrNW_004955429:12,647,993...12,694,895 		JBrowse link
G Wnt7b Wnt family member 7B ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 NCBI chrNW_004955413:30,146,185...30,185,693
Ensembl chrNW_004955413:30,144,869...30,181,791 		JBrowse link
syndromic microphthalmia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: BMP4-Related Syndromic Microphthalmia | ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies OMIM
ClinVar		 PMID:12404109 PMID:17003840 PMID:18252212 PMID:18305125 PMID:18771417 More... NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303 		JBrowse link
G Cdkn3 cyclin dependent kinase inhibitor 3 ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chrNW_004955409:9,015,220...9,030,983
Ensembl chrNW_004955409:9,015,353...9,031,050 		JBrowse link
G Cgrrf1 cell growth regulator with ring finger domain 1 ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chrNW_004955409:8,939,793...8,966,351
Ensembl chrNW_004955409:8,939,521...8,966,351 		JBrowse link
G Cnih1 cornichon family member 1 ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chrNW_004955409:9,001,748...9,013,458
Ensembl chrNW_004955409:9,001,746...9,013,458 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chrNW_004955409:8,624,225...8,670,436
Ensembl chrNW_004955409:8,624,468...8,668,614 		JBrowse link
G Gmfb glia maturation factor beta ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chrNW_004955409:8,969,398...8,984,008
Ensembl chrNW_004955409:8,969,398...8,984,257 		JBrowse link
G Samd4a sterile alpha motif domain containing 4A ISO ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies ClinVar PMID:18252212 PMID:21340693 PMID:28492532 NCBI chrNW_004955409:8,716,432...8,916,398
Ensembl chrNW_004955409:8,712,061...8,916,816 		JBrowse link
syndromic microphthalmia 9 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 anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:28590501 NCBI chrNW_004955416:27,823,611...27,858,112
Ensembl chrNW_004955416:27,823,611...27,858,173 		JBrowse link
G Nhej1 non-homologous end joining factor 1 ISO ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 NCBI chrNW_004955453:14,278,773...14,362,167
Ensembl chrNW_004955453:14,281,069...14,363,876 		JBrowse link
G Sema3e semaphorin 3E ISO ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955410:2,732,983...2,831,220
Ensembl chrNW_004955410:2,732,996...2,831,210 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO ClinVar Annotator: match by term: Matthew-Wood syndrome | ClinVar Annotator: match by term: Microphthalmia syndromic 9 | ClinVar Annotator: match by term: Pulmonary agenesis microphthalmi and diaphragmatic defect OMIM
ClinVar		 PMID:11857549 PMID:16199547 PMID:17273977 PMID:17503335 PMID:19213032 More... NCBI chrNW_004955450:3,579,081...3,602,538
Ensembl chrNW_004955450:3,580,662...3,602,600 		JBrowse link
G Wnt7b Wnt family member 7B ISO ClinVar Annotator: match by term: Matthew-Wood syndrome ClinVar PMID:25741868 PMID:35790350 NCBI chrNW_004955413:30,146,185...30,185,693
Ensembl chrNW_004955413:30,144,869...30,181,791 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6160
      eye disease 3164
        microphthalmia 204
          syndromic microphthalmia 75
            linear skin defects with multiple congenital anomalies 1 3
            syndromic microphthalmia 1 2
            syndromic microphthalmia 10 0
            syndromic microphthalmia 11 1
            syndromic microphthalmia 12 3
            syndromic microphthalmia 13 1
            syndromic microphthalmia 14 2
            syndromic microphthalmia 2 2
            syndromic microphthalmia 3 12
            syndromic microphthalmia 5 42
            syndromic microphthalmia 6 7
            syndromic microphthalmia 8 0
            syndromic microphthalmia 9 5
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Signs and Symptoms 9145
        Neurologic Manifestations 8844
          sensory system disease 6160
            eye disease 3164
              Eye Abnormalities 733
                microphthalmia 204
                  syndromic microphthalmia 75
                    linear skin defects with multiple congenital anomalies 1 3
                    syndromic microphthalmia 1 2
                    syndromic microphthalmia 10 0
                    syndromic microphthalmia 11 1
                    syndromic microphthalmia 12 3
                    syndromic microphthalmia 13 1
                    syndromic microphthalmia 14 2
                    syndromic microphthalmia 2 2
                    syndromic microphthalmia 3 12
                    syndromic microphthalmia 5 42
                    syndromic microphthalmia 6 7
                    syndromic microphthalmia 8 0
                    syndromic microphthalmia 9 5
paths to the root