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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: MIM:PS309800


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 chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416 		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 Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: HCCS-related condition ClinVar PMID:18414213 PMID:28492532 NCBI chr  X:24,953,464...25,490,003
Ensembl chr  X:24,953,464...25,488,663 		JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:71,083,486...71,089,733
Ensembl chr  X:71,083,456...71,089,732 		JBrowse link
G Hccs holocytochrome c synthase ISO ClinVar Annotator: match by term: HCCS-related condition | ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16059943 PMID:17033964 PMID:17893649 PMID:18414213 PMID:23596069 More... NCBI chr  X:24,932,943...24,942,376
Ensembl chr  X:24,933,002...24,942,366 		JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:25741868 PMID:25772934 NCBI chr  X:1,572,805...1,575,063
Ensembl chr  X:1,572,785...1,575,062 		JBrowse link
syndromic microphthalmia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcor BCL6 co-repressor ISO DNA:missense mutation:exon:254C>T (p.P85L) (human)
ClinVar Annotator: match by term: Microphthalmia, syndromic 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:24728327 PMID:25741868 PMID:28492532 PMID:15004558 RGD:1600504 NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613 		JBrowse link
G Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 1 | ClinVar Annotator: match by term: NAA10-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1679229 PMID:11426460 PMID:16114045 PMID:23020937 PMID:24033266 More... NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
syndromic microphthalmia 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc172 coiled-coil domain containing 172 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:257,629,188...257,682,373
Ensembl chr 1:257,629,208...257,675,247 		JBrowse link
G Emx2 empty spiracles homeobox 2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:258,626,584...258,633,594
Ensembl chr 1:258,626,584...258,633,594 		JBrowse link
G Emx2os Emx2 opposite strand/antisense RNA ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:258,569,637...258,626,810 JBrowse link
G Eno4 enolase 4 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:258,096,406...258,119,811
Ensembl chr 1:258,096,432...258,128,984 		JBrowse link
G Gfra1 GDNF family receptor alpha 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473 		JBrowse link
G Hspa12a heat shock protein family A (Hsp70) member 12A ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:257,935,642...258,096,602
Ensembl chr 1:257,935,644...258,096,846 		JBrowse link
G Kcnk18 potassium two pore domain channel subfamily K member 18 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:258,374,671...258,388,945
Ensembl chr 1:258,374,671...258,388,945 		JBrowse link
G Pdzd8 PDZ domain containing 8 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:258,449,218...258,506,828
Ensembl chr 1:258,449,218...258,506,828 		JBrowse link
G Pnlip pancreatic lipase ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:257,774,012...257,811,656
Ensembl chr 1:257,798,581...257,811,654 		JBrowse link
G Pnliprp1 pancreatic lipase-related protein 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:257,867,885...257,883,514
Ensembl chr 1:257,867,885...257,883,514 		JBrowse link
G Pnliprp2 pancreatic lipase related protein 2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:257,897,766...257,916,434
Ensembl chr 1:257,897,766...257,916,434 		JBrowse link
G Shtn1 shootin 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:258,121,966...258,225,861
Ensembl chr 1:258,121,968...258,228,265 		JBrowse link
G Slc18a2 solute carrier family 18 member A2 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:258,413,748...258,449,143
Ensembl chr 1:258,413,959...258,448,325 		JBrowse link
G Spmip5 sperm microtubule inner protein 5 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 ClinVar PMID:28492532 NCBI chr 1:257,926,555...257,934,873
Ensembl chr 1:257,926,388...257,934,399 		JBrowse link
G Vax1 ventral anterior homeobox 1 ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 11 | ClinVar Annotator: match by term: VAX1-related condition OMIM
ClinVar		 PMID:22095910 PMID:25741868 PMID:28492532 NCBI chr 1:258,324,571...258,342,396
Ensembl chr 1:258,326,276...258,330,192 		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 chr15:9,153,738...9,210,228
Ensembl chr15:9,153,738...9,204,630 		JBrowse link
G Rarb retinoic acid receptor, beta ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 12 | ClinVar Annotator: match by term: RARB-related condition OMIM
ClinVar		 PMID:14973393 PMID:16199547 PMID:17506106 PMID:24075189 PMID:24651605 More... NCBI chr15:8,700,533...9,051,288
Ensembl chr15:8,406,492...9,051,288 		JBrowse link
G Top2b DNA topoisomerase II beta ISO ClinVar Annotator: match by term: Microphthalmia, syndromic 12 ClinVar PMID:24651605 PMID:28492532 NCBI chr15:9,051,340...9,111,721
Ensembl chr15:9,051,341...9,112,085 		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 chr  X:149,296,303...149,301,290
Ensembl chr  X:149,296,375...149,301,292 		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 Annotator: match by term: MAB21L2-related condition ClinVar PMID:24906020 PMID:25719200 PMID:25741868 PMID:28492532 PMID:32860008 More... NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724 		JBrowse link
G Mab21l2 mab-21 like 2 ISO ClinVar Annotator: match by term: Colobomatous microphthalmia-rhizomelic dysplasia syndrome | ClinVar Annotator: match by term: MAB21L2-related condition OMIM
ClinVar		 PMID:24906020 PMID:25719200 PMID:25741868 PMID:28492532 PMID:32860008 More... NCBI chr 2:171,946,573...171,949,655
Ensembl chr 2:171,946,573...171,949,655 		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 chr  X:10,183,983...10,210,948
Ensembl chr  X:10,183,068...10,210,918 		JBrowse link
G Bcor BCL6 co-repressor ISO
ISS		 CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:
OMIM:300166
ClinVar Annotator: match by term: BCOR-related condition | ClinVar Annotator: match by term: BCOR-related disorder | ClinVar Annotator: match by term: Oculofaciocardiodental syndrome		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:15004558 PMID:15770227 PMID:16199547 PMID:16829040 PMID:17517692 More... RGD:1600504 NCBI chr  X:10,609,756...10,729,613
Ensembl chr  X:10,687,732...10,729,613 		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 chr 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401 		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 chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350 		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 PMID:17522144 PMID:19921648 PMID:22382802 PMID:23701296 More... NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264 		JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 2:116,884,167...116,937,590
Ensembl chr 2:116,884,248...116,937,590 		JBrowse link
G Mrpl47 mitochondrial ribosomal protein L47 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 2:115,507,842...115,520,093
Ensembl chr 2:115,500,264...115,518,994 		JBrowse link
G Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 2:115,519,248...115,533,589
Ensembl chr 2:115,519,154...115,533,589 		JBrowse link
G Pex5l peroxisomal biogenesis factor 5-like ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 2:115,694,868...115,908,365
Ensembl chr 2:115,700,972...115,913,628 		JBrowse link
G Six6 SIX homeobox 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548 		JBrowse link
G Six6os1 Six6 opposite strand transcript 1 ISO ClinVar Annotator: match by term: Anophthalmia microphthalmia esophageal atresia ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12002146 PMID:12612584 PMID:15346919 PMID:15389708 PMID:15812812 More... NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338 		JBrowse link
G Ttc14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 2:116,653,543...116,665,072
Ensembl chr 2:116,653,595...116,664,158 		JBrowse link
G Usp13 ubiquitin specific peptidase 13 ISO ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome ClinVar PMID:16543359 NCBI chr 2:115,576,912...115,689,153
Ensembl chr 2:115,577,091...115,686,222 		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 chr 6:40,872,936...40,920,700
Ensembl chr 6:40,872,856...40,920,639 		JBrowse link
G Arr3 arrestin 3 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chr  X:65,699,881...65,712,224
Ensembl chr  X:65,698,699...65,712,153 		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 chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775 		JBrowse link
G Cep83 centrosomal protein 83 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 NCBI chr 7:29,280,358...29,389,574
Ensembl chr 7:29,280,419...29,389,574 		JBrowse link
G Chrd chordin ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 NCBI chr11:80,171,994...80,181,166
Ensembl chr11:80,171,994...80,180,673 		JBrowse link
G Cyp26c1 cytochrome P450, family 26, subfamily C, polypeptide 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 1:235,458,961...235,468,433
Ensembl chr 1:235,459,356...235,466,842 		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 chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965 		JBrowse link
G Efhd1 EF-hand domain family, member D1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 9:87,938,259...87,984,917
Ensembl chr 9:87,938,284...87,984,917 		JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707 		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 PMID:36110220 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		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:25741868 PMID:26893459 PMID:28492532 More... NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726 		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 chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860 		JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 6:25,120,938...25,122,522
Ensembl chr 6:25,120,938...25,122,507 		JBrowse link
G Map3k1 mitogen-activated protein kinase kinase kinase 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 2:43,348,572...43,414,706
Ensembl chr 2:43,350,098...43,414,463 		JBrowse link
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
G Myo1c myosin 1C ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr10:60,498,372...60,520,752
Ensembl chr10:60,498,280...60,520,752 		JBrowse link
G Ndst2 N-deacetylase and N-sulfotransferase 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 NCBI chr15:3,563,515...3,573,801
Ensembl chr15:3,563,358...3,573,801 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Notch4 notch receptor 4 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465 		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 chr13:48,313,634...48,433,494
Ensembl chr13:48,316,301...48,433,326 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3442652 PMID:15846561 PMID:16607563 PMID:17541950 PMID:18628516 More... NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416 		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 chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
G Pfkp phosphofructokinase, platelet ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr17:63,729,743...63,794,026
Ensembl chr17:63,729,780...63,794,018 		JBrowse link
G Plxnc1 plexin C1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 NCBI chr 7:29,390,038...29,543,985
Ensembl chr 7:29,390,048...29,543,779 		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 chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Rax retina and anterior neural fold homeobox ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar NCBI chr18:59,463,347...59,467,469
Ensembl chr18:59,463,737...59,467,431 		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 chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605 		JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr18:74,406,066...74,425,974
Ensembl chr18:74,407,560...74,426,789 		JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 1:181,557,109...181,577,456
Ensembl chr 1:181,557,109...181,577,456 		JBrowse link
G Sfrp2 secreted frizzled-related protein 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 2:169,089,517...169,097,064
Ensembl chr 2:169,089,517...169,097,063 		JBrowse link
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:24875647 PMID:25741868 PMID:28492532 NCBI chr 6:91,634,568...91,639,548
Ensembl chr 6:91,634,568...91,639,548 		JBrowse link
G Six6os1 Six6 opposite strand transcript 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:24875647 PMID:25741868 PMID:28492532 NCBI chr 6:91,579,185...91,615,183
Ensembl chr 6:91,579,325...91,615,148 		JBrowse link
G Sox14 SRY-box transcription factor 14 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 8:100,421,982...100,423,918
Ensembl chr 8:100,421,982...100,423,918 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860 		JBrowse link
G Sulf1 sulfatase 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chr 5:6,362,894...6,526,174
Ensembl chr 5:6,362,911...6,525,584 		JBrowse link
G Tamalin trafficking regulator and scaffold protein tamalin ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:26893459 NCBI chr 7:132,338,900...132,359,519
Ensembl chr 7:132,338,900...132,346,666 		JBrowse link
G Tshz2 teashirt zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 3:158,405,469...158,666,915
Ensembl chr 3:158,405,423...158,850,128 		JBrowse link
G Vax2 ventral anterior homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 4:116,195,528...116,219,597
Ensembl chr 4:116,195,528...116,219,594 		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 chr 6:104,214,842...104,240,264
Ensembl chr 6:104,217,230...104,240,018 		JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981 		JBrowse link
G Wnt7b Wnt family member 7B ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 NCBI chr 7:116,634,817...116,679,459
Ensembl chr 7:116,634,814...116,679,581 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BMP4-Related Syndromic Microphthalmia | ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies		 OMIM
CTD
ClinVar		 PMID:12404109 PMID:17003840 PMID:18252212 PMID:18305125 PMID:18771417 More... NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		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 chr15:20,022,522...20,033,948
Ensembl chr15:20,022,664...20,033,945 		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 chr15:20,088,564...20,109,042
Ensembl chr15:20,088,571...20,109,037 		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 chr15:20,037,885...20,049,857
Ensembl chr15:20,037,885...20,049,761 		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 chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698 		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 chr15:20,069,923...20,081,005
Ensembl chr15:20,067,263...20,080,331 		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 chr15:20,135,994...20,352,131
Ensembl chr15:20,134,377...20,348,380 		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 chr 1:119,982,272...120,017,416
Ensembl chr 1:119,982,277...120,017,436 		JBrowse link
G Nhej1 nonhomologous end-joining factor 1 ISO ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:37580330 NCBI chr 9:76,526,322...76,622,488
Ensembl chr 9:76,526,324...76,622,444 		JBrowse link
G Sema3e semaphorin 3E ISO ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:20,297,534...20,555,287
Ensembl chr 4:20,299,718...20,555,229 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism
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 | ClinVar Annotator: match by term: STRA6-related condition
DNA:mutations:multiple (human)		 CTD
ClinVar
OMIM
RGD		 PMID:11857549 PMID:16199547 PMID:17273977 PMID:17503335 PMID:18316031 More... RGD:155631273 NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860 		JBrowse link
G Wnt7b Wnt family member 7B ISO ClinVar Annotator: match by term: Matthew-Wood syndrome ClinVar PMID:25741868 PMID:35790350 NCBI chr 7:116,634,817...116,679,459
Ensembl chr 7:116,634,814...116,679,581 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    sensory system disease 7376
      eye disease 3723
        microphthalmia 229
          syndromic microphthalmia 91
            linear skin defects with multiple congenital anomalies 1 4
            syndromic microphthalmia 1 2
            syndromic microphthalmia 10 0
            syndromic microphthalmia 11 15
            syndromic microphthalmia 12 3
            syndromic microphthalmia 13 1
            syndromic microphthalmia 14 2
            syndromic microphthalmia 2 2
            syndromic microphthalmia 3 12
            syndromic microphthalmia 5 43
            syndromic microphthalmia 6 7
            syndromic microphthalmia 8 0
            syndromic microphthalmia 9 5
Path 2
Term Annotations click to browse term
  disease 19137
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11214
        Neurologic Manifestations 10449
          sensory system disease 7376
            eye disease 3723
              Eye Abnormalities 814
                microphthalmia 229
                  syndromic microphthalmia 91
                    linear skin defects with multiple congenital anomalies 1 4
                    syndromic microphthalmia 1 2
                    syndromic microphthalmia 10 0
                    syndromic microphthalmia 11 15
                    syndromic microphthalmia 12 3
                    syndromic microphthalmia 13 1
                    syndromic microphthalmia 14 2
                    syndromic microphthalmia 2 2
                    syndromic microphthalmia 3 12
                    syndromic microphthalmia 5 43
                    syndromic microphthalmia 6 7
                    syndromic microphthalmia 8 0
                    syndromic microphthalmia 9 5
paths to the root