Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References FTP Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:Eye Abnormalities
go back to main search page
Accession:DOID:9008296 term browser browse the term
Definition:Congenital absence of or defects in structures of the eye; may also be hereditary.
Synonyms:exact_synonym: Eye Abnormality
 primary_id: MESH:D005124;   RDO:0000705
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
Eye Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APAF1 apoptotic peptidase activating factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9753320 NCBI chr 5:85,166,616...85,258,751
Ensembl chr 5:85,166,628...85,258,364 		JBrowse link
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:16938888 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,912 		JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15804571 NCBI chr14:87,743,270...87,891,790
Ensembl chr14:87,742,459...87,891,793 		JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15804571 NCBI chr 8:124,536,648...125,035,841
Ensembl chr 8:124,536,648...124,841,530 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20385946 NCBI chr11:76,858,332...76,997,409 JBrowse link
G COL5A2 collagen type V alpha 2 chain ISO DNA:splicing error RGD PMID:16431952 RGD:1600694 NCBI chr15:93,611,856...93,981,131
Ensembl chr15:93,611,856...93,981,110 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522421 NCBI chr 9:85,419,401...85,711,146
Ensembl chr 9:85,415,550...85,710,752 		JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23221805 NCBI chr 1:207,535,811...207,804,525
Ensembl chr 1:207,640,839...207,801,952 		JBrowse link
G IFT122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr13:68,828,710...68,902,062
Ensembl chr13:68,828,705...68,902,062 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9207787 PMID:9207788 PMID:12022040 NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,252...19,630,085 		JBrowse link
G NDST1 N-deacetylase and N-sulfotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16020517 NCBI chr 2:151,433,925...151,525,909
Ensembl chr 2:151,489,521...151,522,751 		JBrowse link
G PAX6 paired box 6 ISO RGD PMID:9247338 PMID:10441571 PMID:12721955 RGD:1601210 RGD:1601211 RGD:731242 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200 		JBrowse link
G SH3PXD2B SH3 and PX domains 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19669234 NCBI chr16:51,733,170...51,858,774
Ensembl chr16:51,733,131...51,858,772 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:24973920 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,718...2,555,484 		JBrowse link
G SOX2 SRY-box transcription factor 2 ISO DNA:missense mutation: :p.D123G (human)
DNA:mutations: :multiple		 RGD PMID:19471311 PMID:19921648 RGD:8661660 RGD:8661661 NCBI chr13:119,668,476...119,669,435 JBrowse link
G TFAP2A transcription factor AP-2 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19685247 NCBI chr 7:7,221,654...7,244,626
Ensembl chr 7:7,221,656...7,244,477 		JBrowse link
G TGFB2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9217007 NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,424...8,405,771 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16885183 NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,491...16,878,165 		JBrowse link
G VSX1 visual system homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15051220 NCBI chr17:30,848,497...30,856,014
Ensembl chr17:30,848,489...30,856,111 		JBrowse link
3MC syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar Annotator: match by term: Michels syndrome		 ClinVar PMID:28492532 PMID:29407414 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,684...124,646,648 		JBrowse link
G AHSG alpha 2-HS glycoprotein ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr13:124,426,313...124,438,848
Ensembl chr13:124,426,308...124,438,840 		JBrowse link
G COLEC11 collectin subfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 3:131,226,941...131,254,555
Ensembl chr 3:131,226,798...131,254,551 		JBrowse link
G CRYGS crystallin gamma S ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr13:124,356,702...124,364,673
Ensembl chr13:124,356,702...124,363,513 		JBrowse link
G DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 ISO ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar Annotator: match by term: Michels syndrome		 ClinVar PMID:28492532 PMID:29407414 NCBI chr13:124,387,921...124,409,967 JBrowse link
G EIF4A2 eukaryotic translation initiation factor 4A2 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr13:124,582,822...124,589,296
Ensembl chr13:124,583,062...124,589,284 		JBrowse link
G FETUB fetuin B ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr13:124,480,456...124,494,197
Ensembl chr13:124,460,272...124,494,196 		JBrowse link
G HRG histidine rich glycoprotein ISO ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar Annotator: match by term: Michels syndrome		 ClinVar PMID:28492532 PMID:29407414 NCBI chr13:124,505,305...124,516,387
Ensembl chr13:124,505,303...124,516,384 		JBrowse link
G KNG1 kininogen 1 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr13:124,521,276...124,557,384
Ensembl chr13:124,521,277...124,557,376 		JBrowse link
G LOC100525679 60S ribosomal protein L39 ISO ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar Annotator: match by term: Michels syndrome		 ClinVar PMID:28492532 PMID:29407414 NCBI chr 2:14,814,759...14,815,155
Ensembl chr  X:98,178,150...98,181,332 		JBrowse link
G MASP1 MBL associated serine protease 1 ISO OMIM NCBI chr13:124,938,469...125,028,440
Ensembl chr13:124,955,029...125,054,463 		JBrowse link
G RFC4 replication factor C subunit 4 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr13:124,589,292...124,604,421
Ensembl chr13:124,589,295...124,604,426 		JBrowse link
G RTP1 receptor transporter protein 1 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr13:124,935,515...124,942,119
Ensembl chr13:124,936,155...124,942,121 		JBrowse link
G ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr13:124,699,622...124,837,847
Ensembl chr13:124,700,133...124,837,843 		JBrowse link
G TBCCD1 TBCC domain containing 1 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chr13:124,357,614...124,388,387
Ensembl chr13:124,365,056...124,390,539 		JBrowse link
ablepharon macrostomia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TWIST2 twist family bHLH transcription factor 2 ISO OMIM NCBI chr15:138,228,640...138,276,341 JBrowse link
aniridia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPK1 alpha kinase 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 8:110,241,220...110,368,001
Ensembl chr 8:110,241,619...110,367,993 		JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 8:109,306,793...109,661,970 JBrowse link
G AP1AR adaptor related protein complex 1 associated regulatory protein ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 8:110,386,145...110,420,548
Ensembl chr 8:110,386,776...110,505,320 		JBrowse link
G ARSJ arylsulfatase family member J ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 8:108,710,636...108,804,846
Ensembl chr 8:108,726,113...108,803,559 		JBrowse link
G CAMK2D calcium/calmodulin dependent protein kinase II delta ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 8:108,916,019...109,221,317
Ensembl chr 8:108,710,660...109,228,901 		JBrowse link
G DNAJC24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:29,305,688...29,365,244
Ensembl chr 2:29,305,417...29,365,184 		JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital aniridia
ClinVar Annotator: match by term: Aniridia		 CTD
ClinVar		 NCBI chr 2:29,006,456...29,230,092
Ensembl chr 2:29,004,986...29,230,077 		JBrowse link
G FAM241A family with sequence similarity 241 member A ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 8:110,468,450...110,504,828
Ensembl chr 8:110,386,776...110,505,320 		JBrowse link
G FOXC1 forkhead box C1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805 		JBrowse link
G GLIS3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by term: Aniridia ClinVar PMID:26893459 NCBI chr 1:217,572,604...218,117,629
Ensembl chr 1:217,629,331...218,117,267 		JBrowse link
G GMDS GDP-mannose 4,6-dehydratase ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 7:849,088...1,285,563
Ensembl chr 7:752,239...1,285,550 		JBrowse link
G IMMP1L inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:29,230,172...29,305,906
Ensembl chr 2:29,230,225...29,307,231 		JBrowse link
G KIF21A kinesin family member 21A ISO ClinVar Annotator: match by term: Aniridia ClinVar PMID:26893459 NCBI chr 5:70,888,999...71,029,832
Ensembl chr 5:70,888,999...71,029,809 		JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 8:110,069,565...110,089,789
Ensembl chr 8:110,069,829...110,089,708 		JBrowse link
G LOC100517025 uncharacterized LOC100517025 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:29,365,181...29,796,389
Ensembl chr 2:29,365,195...29,792,983 		JBrowse link
G NEUROG2 neurogenin 2 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 8:110,200,681...110,206,081
Ensembl chr 8:110,201,161...110,201,979 		JBrowse link
G PAX6 paired box 6 susceptibility ISO ClinVar Annotator: match by term: Absent iris
ClinVar Annotator: match by term: Congenital aniridia
ClinVar Annotator: match by term: Aniridia
ClinVar Annotator: match by term: Aniridia, atypical
DNA:snps, nonsense mutation:introns, cds:IVS5a+1G>A, IVS8-1G>A, p.Q215X (mouse)
associated with Nystagmus, Congenital;DNA:insertion:exon:c.888insA(human)
DNA:frameshift mutation:cds:p.P418SfsX87 (human)
DNA:deletion:cds:p.R38PfsX12 (human)
associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human)
DNA:deletions:cds:c.170-174delTGGGC, c.475delC (human)
DNA:deletion:cds:p.Q297HfsX68 (human)
DNA:deletion, snp:cds:p.R38GfsX16, p.S121L (human)
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:cds:p.R240X (human)
DNA:mutations:exon, intron:multiple (human)		 RGD
ClinVar
CTD		 PMID:9138149 PMID:9931324 PMID:16080917 PMID:16303964 PMID:17417613 PMID:18322702 PMID:18776953 PMID:19862335 PMID:20664694 PMID:22171157 PMID:22393272 PMID:22550392 PMID:22815628 PMID:23734086 PMID:25366758 PMID:25741868 PMID:30221735 RGD:12790966 RGD:1601209 RGD:8551856 RGD:8551858 RGD:8551859 RGD:8551860 RGD:8551870 RGD:8551879 RGD:8552246 RGD:8552277 RGD:8552301 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200 		JBrowse link
G SOX2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr13:119,668,476...119,669,435 JBrowse link
G TIFA TRAF interacting protein with forkhead associated domain ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 8:110,377,817...110,394,190
Ensembl chr 8:110,377,517...110,389,604 		JBrowse link
G TRIM44 tripartite motif containing 44 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:25,275,193...25,378,738
Ensembl chr 2:25,247,505...25,378,565 		JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,794...28,456,003 		JBrowse link
G ZGRF1 zinc finger GRF-type containing 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 8:110,089,920...110,168,086
Ensembl chr 8:110,089,984...110,168,353 		JBrowse link
Aniridia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr 2:29,305,688...29,365,244
Ensembl chr 2:29,305,417...29,365,184 		JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:11309364 PMID:11431688 PMID:12552561 PMID:12731001 PMID:16098226 PMID:17630404 PMID:18483559 PMID:24138039 PMID:24290376 PMID:25741868 PMID:26661695 PMID:27124303 PMID:27431685 PMID:28321846 PMID:28492532 PMID:29618921 NCBI chr 2:29,006,456...29,230,092
Ensembl chr 2:29,004,986...29,230,077 		JBrowse link
G IMMP1L inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr 2:29,230,172...29,305,906
Ensembl chr 2:29,230,225...29,307,231 		JBrowse link
G LOC100517025 uncharacterized LOC100517025 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr 2:29,365,181...29,796,389
Ensembl chr 2:29,365,195...29,792,983 		JBrowse link
G PAX6 paired box 6 ISO OMIM NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200 		JBrowse link
G RCN1 reticulocalbin 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr 2:28,696,528...28,714,083 JBrowse link
G WT1 WT1 transcription factor ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:8975729 PMID:9090524 PMID:17630404 PMID:23349334 PMID:24138039 PMID:25741868 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,794...28,456,003 		JBrowse link
Aniridia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELP4 elongator acetyltransferase complex subunit 4 ISO OMIM NCBI chr 2:29,006,456...29,230,092
Ensembl chr 2:29,004,986...29,230,077 		JBrowse link
Aniridia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIM44 tripartite motif containing 44 ISO OMIM NCBI chr 2:25,275,193...25,378,738
Ensembl chr 2:25,247,505...25,378,565 		JBrowse link
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO OMIM NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075 		JBrowse link
Anophthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELP4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Anophthalmia ClinVar NCBI chr 2:29,006,456...29,230,092
Ensembl chr 2:29,004,986...29,230,077 		JBrowse link
G OTX2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia ClinVar PMID:29178648 NCBI chr 1:186,028,575...186,039,026
Ensembl chr 1:186,028,575...186,038,229 		JBrowse link
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: Anophthalmia ClinVar NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200 		JBrowse link
G RAX retina and anterior neural fold homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:15789424 NCBI chr 1:161,679,154...161,683,486
Ensembl chr 1:161,679,154...161,683,060 		JBrowse link
G SOX2 SRY-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism
DNA:nonsense mutations: :multiple		 CTD
RGD		 PMID:12612584 PMID:21532573 RGD:1599088 NCBI chr13:119,668,476...119,669,435 JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr 7:59,317,930...59,347,274
Ensembl chr 7:59,318,010...59,347,267 		JBrowse link
anterior segment dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:32499604 NCBI chr 1:138,619,701...139,015,681
Ensembl chr 1:138,619,701...139,016,125 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:25741868 PMID:32499604 NCBI chr11:76,858,332...76,997,409 JBrowse link
G CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anterior segment dysgenesis		 CTD
ClinVar		 PMID:27839872 PMID:32499604 NCBI chr 2:60,636,025...60,742,120 JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar Annotator: match by term: Anterior segment ocular dysgenesis		 CTD
ClinVar		 PMID:9497261 PMID:11403040 PMID:11527932 PMID:12036985 PMID:17591938 PMID:18852424 PMID:19234632 PMID:19643970 PMID:22004014 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24281366 PMID:24940937 PMID:25741868 PMID:27243976 PMID:27272408 PMID:27508083 PMID:27820421 PMID:28192799 PMID:28448622 PMID:28492532 PMID:32499604 PMID:32832252 NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,206,750 		JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Anterior segment anomalies
ClinVar Annotator: match by term: Anterior segment anomalies and cataract		 ClinVar PMID:10655545 NCBI chr 4:63,970,939...64,328,107
Ensembl chr 4:63,970,511...64,328,105 		JBrowse link
G FOXC1 forkhead box C1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis RGD
ClinVar		 PMID:10767326 PMID:32499604 RGD:8662365 NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805 		JBrowse link
G FOXE3 forkhead box E3 ISO DNA:insertion:cds:c.943_944insG (human)
ClinVar Annotator: match by term: Anterior segment dysgenesis		 RGD
ClinVar		 PMID:11159941 PMID:16826526 PMID:20361012 PMID:32499604 RGD:1598957 NCBI chr 6:164,130,638...164,133,218
Ensembl chr 6:164,132,034...164,133,011 		JBrowse link
G GJA8 gap junction protein alpha 8 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:32499604 NCBI chr 4:99,721,754...99,724,943
Ensembl chr 4:99,723,341...99,724,672 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:25741868 PMID:27108798 PMID:32499604 NCBI chr13:61,068,131...61,398,918
Ensembl chr13:61,068,126...61,398,908 		JBrowse link
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:24281366 PMID:32499604 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200 		JBrowse link
G PITX2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar Annotator: match by term: Anterior segment ocular dysgenesis
ClinVar Annotator: match by term: Anterior segment mesenchymal dysgenesis		 ClinVar PMID:7581385 PMID:9437321 PMID:15378534 PMID:15591271 PMID:25741868 PMID:26220699 PMID:28492532 PMID:32499604 NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,664...111,723,298 		JBrowse link
G PITX3 paired like homeodomain 3 ISO DNA:insertion:exon:c.657ins17bp
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:9620774 PMID:18989383 RGD:11535067 NCBI chr14:113,230,194...113,241,393
Ensembl chr14:113,230,965...113,241,360 		JBrowse link
G PXDN peroxidasin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar Annotator: match by term: Anterior segment ocular dysgenesis		 CTD
ClinVar		 PMID:32499604 NCBI chr 3:132,306,288...132,362,853
Ensembl chr 3:132,306,443...132,362,841 		JBrowse link
anterior segment dysgenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXE3 forkhead box E3 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 1 ClinVar PMID:17893665 PMID:27218149 PMID:28492532 NCBI chr 6:164,130,638...164,133,218
Ensembl chr 6:164,132,034...164,133,011 		JBrowse link
G PITX2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1 ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,664...111,723,298 		JBrowse link
G PITX3 paired like homeodomain 3 ISO OMIM NCBI chr14:113,230,194...113,241,393
Ensembl chr14:113,230,965...113,241,360 		JBrowse link
anterior segment dysgenesis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXE3 forkhead box E3 ISO OMIM NCBI chr 6:164,130,638...164,133,218
Ensembl chr 6:164,132,034...164,133,011 		JBrowse link
anterior segment dysgenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC1 forkhead box C1 ISO OMIM NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805 		JBrowse link
anterior segment dysgenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITX2 paired like homeodomain 2 ISO OMIM NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,664...111,723,298 		JBrowse link
anterior segment dysgenesis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:10655546 PMID:11403040 PMID:11774072 PMID:11980847 PMID:12036985 PMID:14507861 PMID:16688110 PMID:16735991 PMID:16735994 PMID:17563717 PMID:17591938 PMID:17718864 PMID:18622259 PMID:19204079 PMID:19236111 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:21081970 PMID:21168818 PMID:22004014 PMID:23028769 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25741868 PMID:25978063 PMID:27243976 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27820421 PMID:28384041 PMID:28492532 PMID:28620713 PMID:29556725 PMID:30653986 PMID:30788381 PMID:32499604 NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,206,750 		JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar NCBI chr 2:29,006,456...29,230,092
Ensembl chr 2:29,004,986...29,230,077 		JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:21931569 PMID:26893459 NCBI chr 1:207,535,811...207,804,525
Ensembl chr 1:207,640,839...207,801,952 		JBrowse link
G PAX6 paired box 6 ISO OMIM NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200 		JBrowse link
G PITX2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,664...111,723,298 		JBrowse link
anterior segment dysgenesis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO OMIM NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,206,750 		JBrowse link
anterior segment dysgenesis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PXDN peroxidasin ISO OMIM NCBI chr 3:132,306,288...132,362,853
Ensembl chr 3:132,306,443...132,362,841 		JBrowse link
anterior segment dysgenesis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 ISO OMIM NCBI chr 2:60,636,025...60,742,120 JBrowse link
Arhinia, Choanal Atresia, and Microphthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO OMIM NCBI chr 6:103,809,732...103,986,057
Ensembl chr 6:103,808,066...103,986,144 		JBrowse link
autosomal dominant isolated ectopia lentis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN1 fibrillin 1 ISO OMIM NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant ClinVar PMID:23218701 PMID:23401661 PMID:28492532 NCBI chr 7:97,744,974...97,852,848
Ensembl chr 7:97,745,396...97,852,502 		JBrowse link
autosomal recessive isolated ectopia lentis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL4 ADAMTS like 4 ISO OMIM NCBI chr 4:98,577,813...98,589,255
Ensembl chr 4:98,577,820...98,589,175 		JBrowse link
Axenfeld-Rieger syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17696175 PMID:20385946 NCBI chr11:76,858,332...76,997,409 JBrowse link
G DACT1 dishevelled binding antagonist of beta catenin 1 ISO ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:26893459 NCBI chr 1:187,719,391...187,729,568
Ensembl chr 1:187,719,162...187,729,925 		JBrowse link
G FOXC1 forkhead box C1 ISO DNA:mutation:cds:p.Q120X(human)
DNA:mutation:cds:p.F112S(human)
DNA:mutation:cds:272T>C,p.I91T(human)		 RGD PMID:12614756 PMID:15477465 PMID:18498376 RGD:12904042 RGD:12904044 RGD:12904045 NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805 		JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:26893459 NCBI chr 8:73,502,368...73,959,454
Ensembl chr 8:73,502,664...73,958,083 		JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Iridogoniodysgenesis with somatic anomalies ClinVar PMID:21931569 PMID:26893459 NCBI chr 1:207,535,811...207,804,525
Ensembl chr 1:207,640,839...207,801,952 		JBrowse link
G PITX2 paired like homeodomain 2 ISO DNA:point mutation:exon:p.W86C (c.840G>T) (human)
ClinVar Annotator: match by term: Axenfeld-Rieger Syndrome
ClinVar Annotator: match by term: Rieger syndrome
DNA:missense mutation: :p.G137V (g.20913G>T) (human)		 RGD
ClinVar		 PMID:16876867 PMID:19052653 PMID:25741868 RGD:12910558 RGD:12910560 NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,664...111,723,298 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:26893459 PMID:28492532 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225 		JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805 		JBrowse link
G PAX6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200 		JBrowse link
G PITX2 paired like homeodomain 2 ISO OMIM NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,664...111,723,298 		JBrowse link
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 8:103,188,312...103,383,955
Ensembl chr 8:103,097,397...103,382,115 		JBrowse link
Axenfeld-Rieger syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADARB1 adenosine deaminase RNA specific B1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr13:207,746,915...207,791,809
Ensembl chr13:207,693,698...207,791,796 		JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr13:207,907,835...207,984,082
Ensembl chr13:207,907,857...207,985,181 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106
G CUNH21orf58 chromosome unknown C21orf58 homolog ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106
G DIP2A disco interacting protein 2 homolog A ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106
G FAM207A family with sequence similarity 207 member A ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr13:207,560,855...207,588,502 JBrowse link
G FOXC1 forkhead box C1 ISO OMIM NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805 		JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106
G LOC100623720 collagen alpha-1(VI) chain ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr13:208,295,245...208,321,789
Ensembl chr13:208,295,240...208,313,127 		JBrowse link
G LSS lanosterol synthase ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106
G MCM3AP minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106
G PCBP3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr13:208,060,949...208,259,368 JBrowse link
G PCNT pericentrin ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106
G PITX2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Anterior segment mesenchymal dysgenesis ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,664...111,723,298 		JBrowse link
G POFUT2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr13:207,801,101...207,818,138 JBrowse link
G PRMT2 protein arginine methyltransferase 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106
G S100B S100 calcium binding protein B ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106
G SLC19A1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr13:207,986,094...208,007,855
Ensembl chr13:207,986,098...208,007,675 		JBrowse link
G SPATC1L spermatogenesis and centriole associated 1 like ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106
G YBEY ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106
Baraitser-Winter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome
ClinVar Annotator: match by term: Cerebrofrontofacial syndrome		 ClinVar PMID:12325076 PMID:16685646 PMID:22366783 PMID:25052316 PMID:25741868 PMID:28492532 NCBI chr 3:4,084,275...4,090,383
Ensembl chr 3:4,082,216...4,090,356 		JBrowse link
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta ISO OMIM NCBI chr 3:4,084,275...4,090,383
Ensembl chr 3:4,082,216...4,090,356 		JBrowse link
Baraitser-Winter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG1 actin gamma 1 ISO OMIM NCBI chr12:1,320,355...1,323,219
Ensembl chr12:1,160,350...1,323,217 		JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED25 mediator complex subunit 25 ISO OMIM NCBI chr 6:54,834,303...54,849,539
Ensembl chr 6:54,817,236...54,851,834 		JBrowse link
blepharophimosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:23806086 PMID:24088041 PMID:24674232 NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,629...10,227,947 		JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:25741868 NCBI chr  X:46,281,958...46,444,315
Ensembl chr  X:46,282,415...46,441,623 		JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:25741868 NCBI chr14:77,390,790...77,597,674
Ensembl chr14:77,375,758...77,597,674 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:25741868 NCBI chr 1:219,624,773...219,815,438
Ensembl chr 1:219,573,535...219,815,421 		JBrowse link
G SNX9 sorting nexin 9 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:24674232 NCBI chr 1:9,130,360...9,239,023
Ensembl chr 1:9,130,334...9,239,343 		JBrowse link
G TMEM242 transmembrane protein 242 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:24674232 NCBI chr 1:9,667,865...9,718,226
Ensembl chr 1:9,667,291...9,723,347 		JBrowse link
G ZDHHC14 zinc finger DHHC-type palmitoyltransferase 14 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:24674232 NCBI chr 1:9,348,016...9,619,719
Ensembl chr 1:9,350,294...9,619,727 		JBrowse link
Blepharophimosis Syndrome Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXL2 forkhead box L2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blepharophimosis syndrome type 1		 CTD
ClinVar		 PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12567411 PMID:12630957 PMID:12938087 PMID:16219626 PMID:17089161 PMID:18372316 PMID:20429427 PMID:21889601 PMID:25741868 NCBI chr13:79,708,693...79,709,825
Ensembl chr13:79,709,013...79,709,825 		JBrowse link
Blepharophimosis Syndrome Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXL2 forkhead box L2 ISO ClinVar Annotator: match by term: Blepharophimosis syndrome type 2 ClinVar PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:18372316 PMID:21325395 PMID:25741868 NCBI chr13:79,708,693...79,709,825
Ensembl chr13:79,709,013...79,709,825 		JBrowse link
blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COPB2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr13:80,220,460...80,264,808
Ensembl chr13:80,218,984...80,264,764 		JBrowse link
G FOXL2 forkhead box L2 ISO OMIM NCBI chr13:79,708,693...79,709,825
Ensembl chr13:79,709,013...79,709,825 		JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr13:80,006,656...80,232,107
Ensembl chr13:79,981,676...80,232,774 		JBrowse link
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DUSP29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Young Simpson syndrome
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type		 ClinVar PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23436491 PMID:25326637 PMID:25741868 PMID:27696664 NCBI chr14:77,602,871...77,643,109
Ensembl chr14:77,602,870...77,643,114 		JBrowse link
G KAT6B lysine acetyltransferase 6B ISO OMIM NCBI chr14:77,390,790...77,597,674
Ensembl chr14:77,375,758...77,597,674 		JBrowse link
brittle cornea syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Brittle cornea syndrome 1
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIB		 ClinVar PMID:9084938 PMID:10766984 PMID:11370633 PMID:12508273 PMID:16158441 PMID:20004762 PMID:20503305 PMID:20533528 PMID:20842734 PMID:21744491 PMID:25741868 PMID:26373698 PMID:26872206 PMID:26925854 PMID:28238810 NCBI chr 1:130,845,103...130,847,203 JBrowse link
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
ClinVar Annotator: match by term: BRITTLE CORNEA SYNDROME 1		 ClinVar PMID:28492532 NCBI chr 8:103,188,312...103,383,955
Ensembl chr 8:103,097,397...103,382,115 		JBrowse link
G ZNF469 zinc finger protein 469 ISO OMIM NCBI chr 6:1,161,514...1,208,406
Ensembl chr 6:1,162,822...1,174,257 		JBrowse link
brittle cornea syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRDM5 PR/SET domain 5 ISO OMIM NCBI chr 8:103,188,312...103,383,955
Ensembl chr 8:103,097,397...103,382,115 		JBrowse link
buphthalmos term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 susceptibility ISO DNA:polymorphisms:multiple (human)
DNA:snp:cds:p.E387K (human)
DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N (human)
DNA:deletion, snp:exons:g.4339delG, p.G61E (human)		 OMIM
RGD		 PMID:10227395 PMID:19597567 PMID:20664688 PMID:23922489 RGD:7800657 RGD:7800670 RGD:7800680 RGD:7800689 NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,206,750 		JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Glaucoma, congenital ClinVar PMID:19656777 NCBI chr 7:97,744,974...97,852,848
Ensembl chr 7:97,745,396...97,852,502 		JBrowse link
G MYOC myocilin ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, a, digenic ClinVar PMID:12447164 PMID:15025728 PMID:15723004 PMID:15733270 PMID:16288197 PMID:17563717 PMID:22194650 PMID:22736945 NCBI chr 9:114,087,370...114,098,765
Ensembl chr 9:114,087,374...114,098,743 		JBrowse link
G RMDN2 regulator of microtubule dynamics 2 ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar NCBI chr 3:102,210,367...102,307,355
Ensembl chr 3:102,215,140...102,424,775 		JBrowse link
cataract 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NHS NHS actin remodeling regulator ISO OMIM NCBI chr  X:13,854,950...14,209,085
Ensembl chr  X:13,855,340...14,209,664 		JBrowse link
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Cerebral-cerebellar-coloboma syndrome, X-linked ClinVar PMID:23176820 PMID:25326635 PMID:25741868 PMID:25744623 PMID:26609730 PMID:27030146 PMID:28492532 PMID:29389947 NCBI chr  X:43,150,691...43,155,981
Ensembl chr  X:43,147,476...43,156,195 		JBrowse link
CHIME syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGL phosphatidylinositol glycan anchor biosynthesis class L ISO OMIM NCBI chr12:59,217,267...59,256,896
Ensembl chr12:59,201,556...59,256,824 		JBrowse link
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HDAC6 histone deacetylase 6 ISO OMIM NCBI chr  X:42,917,911...42,941,894
Ensembl chr  X:42,917,960...42,941,890 		JBrowse link
Chromosome 11p Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELP4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar NCBI chr 2:29,006,456...29,230,092
Ensembl chr 2:29,004,986...29,230,077 		JBrowse link
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200 		JBrowse link
COACH syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHI1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Joubert syndrome with ocular defect ClinVar PMID:16453322 PMID:18054307 PMID:21623382 PMID:21937992 PMID:25525159 PMID:25741868 PMID:26092869 PMID:28492532 NCBI chr 1:28,566,279...28,760,471
Ensembl chr 1:28,566,266...28,760,468 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by term: Joubert syndrome with hepatic defect		 ClinVar PMID:18414213 PMID:18950740 PMID:19574260 PMID:19777577 PMID:22241855 PMID:22246503 PMID:25741868 PMID:26092869 PMID:27081510 PMID:27082236 PMID:28492532 NCBI chr 8:10,779,206...10,898,189
Ensembl chr 8:10,779,332...10,898,193 		JBrowse link
G RPGRIP1L RPGRIP1 like ISO ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis		 ClinVar PMID:17558407 PMID:17558409 PMID:19430481 PMID:21866095 PMID:23188109 PMID:25741868 PMID:26092869 PMID:28492532 PMID:29991045 NCBI chr 6:31,564,937...31,660,540
Ensembl chr 6:31,564,986...31,661,194 		JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: CEREBELLAR VERMIS HYPO/APLASIA, OLIGOPHRENIA, CONGENITAL ATAXIA, OCULAR COLOBOMA, AND HEPATIC FIBROSIS
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
DNA:missense mutations: :multiple
ClinVar Annotator: match by term: COACH syndrome		 ClinVar
CTD
RGD		 PMID:2929661 PMID:8862632 PMID:12368986 PMID:17160906 PMID:17397051 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:23559409 PMID:25326635 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28492532 PMID:28497568 PMID:28973083 RGD:11535944 RGD:11535946 NCBI chr 4:42,878,249...42,931,106
Ensembl chr 4:42,878,254...42,931,121 		JBrowse link
COACH Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CC2D2A coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: COACH SYNDROME 1 ClinVar PMID:18950740 PMID:22241855 PMID:25741868 PMID:26092869 PMID:27081510 PMID:27082236 PMID:28492532 NCBI chr 8:10,779,206...10,898,189
Ensembl chr 8:10,779,332...10,898,193 		JBrowse link
G RPGRIP1L RPGRIP1 like ISO ClinVar Annotator: match by term: COACH SYNDROME 1 ClinVar PMID:17558409 PMID:25741868 PMID:28492532 NCBI chr 6:31,564,937...31,660,540
Ensembl chr 6:31,564,986...31,661,194 		JBrowse link
G TMEM67 transmembrane protein 67 ISO OMIM NCBI chr 4:42,878,249...42,931,106
Ensembl chr 4:42,878,254...42,931,121 		JBrowse link
COACH Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CC2D2A coiled-coil and C2 domain containing 2A ISO OMIM NCBI chr 8:10,779,206...10,898,189
Ensembl chr 8:10,779,332...10,898,193 		JBrowse link
COACH Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPGRIP1L RPGRIP1 like ISO OMIM NCBI chr 6:31,564,937...31,660,540
Ensembl chr 6:31,564,986...31,661,194 		JBrowse link
CODAS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CATSPERD cation channel sperm associated auxiliary subunit delta ISO ClinVar Annotator: match by term: CODAS syndrome ClinVar PMID:25741868 NCBI chr 2:73,207,458...73,266,158
Ensembl chr 2:73,207,892...73,266,302 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial ISO OMIM NCBI chr 2:73,266,310...73,286,774
Ensembl chr 2:73,266,258...73,286,774 		JBrowse link
Cole-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4HB prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cole-Carpenter syndrome		 CTD
ClinVar		 PMID:25741868 NCBI chr12:1,121,816...1,131,291
Ensembl chr12:1,121,793...1,131,291 		JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:104,560,723...105,005,400
Ensembl chr 8:104,808,940...105,005,400 		JBrowse link
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4HB prolyl 4-hydroxylase subunit beta ISO OMIM NCBI chr12:1,121,816...1,131,291
Ensembl chr12:1,121,793...1,131,291 		JBrowse link
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SEC24D SEC24 homolog D, COPII coat complex component ISO OMIM NCBI chr 8:104,560,723...105,005,400
Ensembl chr 8:104,808,940...105,005,400 		JBrowse link
coloboma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:22366783 NCBI chr 3:4,084,275...4,090,383
Ensembl chr 3:4,082,216...4,090,356 		JBrowse link
G ACTG1 actin gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22366783 NCBI chr12:1,320,355...1,323,219
Ensembl chr12:1,160,350...1,323,217 		JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25004007 NCBI chr 2:129,663,226...129,709,728
Ensembl chr 2:129,662,296...129,713,729 		JBrowse link
G BFSP1 beaded filament structural protein 1 ISO ClinVar Annotator: match by term: Ocular coloboma ClinVar PMID:24281366 PMID:28492532 NCBI chr17:25,933,743...25,966,940
Ensembl chr17:25,933,900...25,966,843 		JBrowse link
G CAPN15 calpain 15 ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:25741868 NCBI chr 3:41,190,626...41,208,657
Ensembl chr 3:41,190,830...41,208,624 		JBrowse link
G CDK5RAP2 CDK5 regulatory subunit associated protein 2 ISO ClinVar Annotator: match by term: Coloboma ClinVar NCBI chr 1:260,465,809...260,648,070
Ensembl chr 1:260,467,159...260,635,443 		JBrowse link
G CDON cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar NCBI chr 9:53,079,543...53,178,881
Ensembl chr 9:53,079,550...53,178,881 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO ClinVar Annotator: match by term: Congenital ocular coloboma
ClinVar Annotator: match by term: Coloboma of eye		 ClinVar PMID:9097971 PMID:10655546 PMID:11558822 PMID:11774072 PMID:11980847 PMID:14507861 PMID:15342693 PMID:16688110 PMID:16735991 PMID:16735994 PMID:17563717 PMID:17591938 PMID:17718864 PMID:17893647 PMID:18470941 PMID:18622259 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:21081970 PMID:21168818 PMID:21854771 PMID:22004014 PMID:23028769 PMID:24033266 PMID:24123366 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25741868 PMID:25950505 PMID:25978063 PMID:27243976 PMID:27408750 PMID:27508083 PMID:27535533 PMID:28384041 PMID:28492532 PMID:28620713 PMID:29556725 PMID:30653986 PMID:30788381 NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,206,750 		JBrowse link
G FIBP FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:26660953 NCBI chr 2:6,440,483...6,445,927
Ensembl chr 2:6,440,390...6,445,927 		JBrowse link
G FZD5 frizzled class receptor 5 ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:25741868 PMID:26908622 NCBI chr15:110,913,990...110,921,388
Ensembl chr15:110,911,567...110,921,353 		JBrowse link
G LAMB1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18809619 NCBI chr 9:107,670,120...107,747,242
Ensembl chr 9:107,671,152...107,772,269 		JBrowse link
G MAB21L2 mab-21 like 2 ISO DNA:missense mutation:cds:c.151 C>G, (p.R51G)(human) RGD PMID:25719200 RGD:11553846 NCBI chr 8:78,385,176...78,388,008
Ensembl chr 8:78,381,994...78,387,069 		JBrowse link
G PAX6 paired box 6 ISO OMIM NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200 		JBrowse link
G RBP4 retinol binding protein 4 ISO ClinVar Annotator: match by term: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT ClinVar PMID:29178648 NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,036,770...105,044,765 		JBrowse link
G SALL2 spalt like transcription factor 2 ISO OMIM NCBI chr 7:77,552,357...77,653,380
Ensembl chr 7:77,638,848...77,654,044 		JBrowse link
G SLBP stem-loop binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30695021 NCBI chr 8:802,940...818,161
Ensembl chr 8:802,940...826,192 		JBrowse link
G SLC16A12 solute carrier family 16 member 12 ISO ClinVar Annotator: match by term: Ocular coloboma ClinVar PMID:24281366 NCBI chr14:101,273,977...101,368,350
Ensembl chr14:101,273,993...101,368,152 		JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Congenital ocular coloboma
ClinVar Annotator: match by term: Coloboma of eye		 ClinVar PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532 NCBI chr 4:42,878,249...42,931,106
Ensembl chr 4:42,878,254...42,931,121 		JBrowse link
G WDR37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Ocular coloboma ClinVar PMID:31327508 PMID:31327510 PMID:31474318 NCBI chr10:68,416,058...68,529,662
Ensembl chr10:68,416,090...68,535,143 		JBrowse link
G YAP1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT ClinVar PMID:24462371 NCBI chr 9:32,811,629...32,924,926
Ensembl chr 9:32,811,416...32,925,603 		JBrowse link
coloboma of optic nerve term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHX37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:31256877 NCBI chr14:28,206,152...28,242,436
Ensembl chr14:28,206,160...28,243,427 		JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:25741868 NCBI chr 2:29,006,456...29,230,092
Ensembl chr 2:29,004,986...29,230,077 		JBrowse link
G PAX6 paired box 6 ISO OMIM NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200 		JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MITF melanocyte inducing transcription factor ISO OMIM NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,096 		JBrowse link
congenital aphakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXE3 forkhead box E3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital primary aphakia
ClinVar Annotator: match by term: Aphakia, congenital primary		 CTD
ClinVar		 PMID:3550563 PMID:11159941 PMID:11980846 PMID:16826526 PMID:19708017 PMID:20140963 PMID:20361012 PMID:21150893 PMID:24033266 PMID:24033328 PMID:25504734 PMID:25741868 PMID:26854927 PMID:26995144 PMID:28492532 PMID:29136273 PMID:29878917 PMID:32499604 NCBI chr 6:164,130,638...164,133,218
Ensembl chr 6:164,132,034...164,133,011 		JBrowse link
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGBP1 immunoglobulin binding protein 1 ISO OMIM NCBI chr  X:56,173,773...56,206,121 JBrowse link
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VSX1 visual system homeobox 1 ISO OMIM NCBI chr17:30,848,497...30,856,014
Ensembl chr17:30,848,489...30,856,111 		JBrowse link
cryptophthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FREM2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Cryptophthalmos ClinVar PMID:25741868 NCBI chr11:13,775,267...14,116,377
Ensembl chr11:13,959,865...14,154,246 		JBrowse link
Desanto-Shinawi Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WAC WW domain containing adaptor with coiled-coil ISO OMIM NCBI chr10:39,932,562...40,024,114
Ensembl chr10:39,932,570...40,024,115 		JBrowse link
Ectopia Lentis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL4 ADAMTS like 4 ISO ClinVar Annotator: match by term: Ectopia lentis ClinVar PMID:2056446 PMID:20564469 PMID:20702823 PMID:21051722 PMID:22736615 PMID:22871183 PMID:24033266 PMID:25741868 PMID:25975359 PMID:28492532 PMID:28642162 NCBI chr 4:98,577,813...98,589,255
Ensembl chr 4:98,577,820...98,589,175 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Ectopia lentis
DNA:missense mutation:exon:p.C102Y (c.305G>A) (human)
DNA:missense mutation:exon:p.C587R (c.1759T>C) (human)
DNA:missense mutation:exon:p.Y754C (c.2262A>G) (human)
DNA:missense mutation:cds:p.R240C (human)
DNA:missense mutation:exon:p.G214S (G640G>A) (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.R62C (c.184C>T) (human)		 RGD
ClinVar
CTD		 PMID:7611299 PMID:7870075 PMID:8136837 PMID:8653794 PMID:8723076 PMID:8894692 PMID:9399842 PMID:9401003 PMID:9837823 PMID:10533071 PMID:10633129 PMID:10874320 PMID:11700157 PMID:11992479 PMID:12402346 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15733436 PMID:16220557 PMID:16222657 PMID:16835936 PMID:17253931 PMID:17418587 PMID:17627385 PMID:17657824 PMID:17663468 PMID:19159394 PMID:19293843 PMID:21542060 PMID:21895641 PMID:22219643 PMID:22393277 PMID:22772368 PMID:22950452 PMID:23577066 PMID:24033266 PMID:24161884 PMID:24793577 PMID:24941995 PMID:25326635 PMID:25504618 PMID:25741868 PMID:25812041 PMID:25852444 PMID:26133393 PMID:26558191 PMID:28492532 PMID:29543232 PMID:31227806 RGD:12904906 RGD:12910138 RGD:12910140 RGD:12910479 RGD:12910481 RGD:1300363 RGD:1580380 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
ectopia lentis with ectopia of pupil term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTSL4 ADAMTS like 4 ISO OMIM NCBI chr 4:98,577,813...98,589,255
Ensembl chr 4:98,577,820...98,589,175 		JBrowse link
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPH aspartate beta-hydroxylase ISO OMIM NCBI chr 4:71,902,891...72,107,047
Ensembl chr 4:71,903,359...72,107,046 		JBrowse link
exudative vitreoretinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29207047 NCBI chr 4:123,202,720...123,333,044
Ensembl chr 4:123,202,632...123,331,144 		JBrowse link
G FZD4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Familial exudative vitreoretinopathy ClinVar PMID:14507768 PMID:15035989 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 NCBI chr 9:20,714,995...20,721,460
Ensembl chr 9:20,294,885...20,721,766 		JBrowse link
G LRP5 LDL receptor related protein 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial exudative vitreoretinopathy		 CTD
ClinVar		 PMID:8832721 PMID:11719191 PMID:11956231 PMID:15024691 PMID:15824851 PMID:16252235 PMID:18602879 PMID:25711638 PMID:28041643 PMID:28492532 PMID:29181528 PMID:29207047 NCBI chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,593...4,653,945 		JBrowse link
G PRSS23 serine protease 23 ISO ClinVar Annotator: match by term: Familial exudative vitreoretinopathy ClinVar PMID:14507768 PMID:15035989 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 NCBI chr 9:20,603,676...20,623,358
Ensembl chr 9:20,603,733...20,625,144 		JBrowse link
G TSPAN12 tetraspanin 12 ISO ClinVar Annotator: match by term: Familial exudative vitreoretinopathy ClinVar PMID:25250762 PMID:28041643 NCBI chr18:26,046,645...26,112,924
Ensembl chr18:26,046,703...26,112,923 		JBrowse link
G ZNF408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Familial exudative vitreoretinopathy ClinVar NCBI chr 2:15,829,489...15,834,549
Ensembl chr 2:15,826,654...15,834,246 		JBrowse link
exudative vitreoretinopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC81 coiled-coil domain containing 81 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 9:20,224,634...20,279,591
Ensembl chr 9:20,181,275...20,280,285 		JBrowse link
G CCDC83 coiled-coil domain containing 83 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 9:19,769,244...19,817,515
Ensembl chr 9:19,769,640...19,816,167 		JBrowse link
G CCDC89 coiled-coil domain containing 89 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 9:19,606,282...19,611,544
Ensembl chr 9:19,607,129...19,613,185 		JBrowse link
G CREBZF CREB/ATF bZIP transcription factor ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 9:19,589,617...19,595,114
Ensembl chr 9:19,589,680...19,595,049 		JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:28575650 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,137,173...25,208,311 		JBrowse link
G DLG2 discs large MAGUK scaffold protein 2 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 9:17,575,991...19,547,417
Ensembl chr 9:17,576,135...19,546,887 		JBrowse link
G EED embryonic ectoderm development ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 9:20,123,077...20,158,747
Ensembl chr 9:20,123,857...20,158,816 		JBrowse link
G FZD4 frizzled class receptor 4 ISO OMIM NCBI chr 9:20,714,995...20,721,460
Ensembl chr 9:20,294,885...20,721,766 		JBrowse link
G HIKESHI heat shock protein nuclear import factor hikeshi ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 9:20,181,187...20,224,116
Ensembl chr 9:20,181,235...20,280,211 		JBrowse link
G LRP5 LDL receptor related protein 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1		 CTD
ClinVar		 PMID:25741868 NCBI chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,593...4,653,945 		JBrowse link
G ME3 malic enzyme 3 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 9:20,294,871...20,613,225
Ensembl chr 9:20,294,885...20,721,776 		JBrowse link
G PICALM phosphatidylinositol binding clathrin assembly protein ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 9:19,835,934...19,947,239
Ensembl chr 9:19,835,938...20,104,632 		JBrowse link
G PRSS23 serine protease 23 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1
ClinVar Annotator: match by term: FEVR, AUTOSOMAL DOMINANT		 ClinVar PMID:12172548 PMID:14507768 PMID:15035989 PMID:15488808 PMID:15733276 PMID:15981244 PMID:20340138 PMID:20938005 PMID:21097938 PMID:21681106 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532 NCBI chr 9:20,603,676...20,623,358
Ensembl chr 9:20,603,733...20,625,144 		JBrowse link
G SYTL2 synaptotagmin like 2 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 9:19,617,287...19,763,439
Ensembl chr 9:19,617,291...19,734,636 		JBrowse link
G TMEM126A transmembrane protein 126A ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 9:19,576,241...19,585,869
Ensembl chr 9:19,576,295...19,585,277 		JBrowse link
G TMEM126B transmembrane protein 126B ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 9:19,547,664...19,555,247
Ensembl chr 9:19,547,646...19,556,795 		JBrowse link
G TMEM135 transmembrane protein 135 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr 9:20,741,085...21,020,899
Ensembl chr 9:20,721,956...21,024,995 		JBrowse link
G ZNF408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:23716654 PMID:27316669 PMID:28492532 NCBI chr 2:15,829,489...15,834,549
Ensembl chr 2:15,826,654...15,834,246 		JBrowse link
exudative vitreoretinopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRP5 LDL receptor related protein 5 ISO OMIM NCBI chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,593...4,653,945 		JBrowse link
exudative vitreoretinopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSPAN12 tetraspanin 12 ISO OMIM NCBI chr18:26,046,645...26,112,924
Ensembl chr18:26,046,703...26,112,923 		JBrowse link
exudative vitreoretinopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZNF408 zinc finger protein 408 ISO OMIM NCBI chr 2:15,829,489...15,834,549
Ensembl chr 2:15,826,654...15,834,246 		JBrowse link
exudative vitreoretinopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNNB1 catenin beta 1 ISO OMIM NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,137,173...25,208,311 		JBrowse link
Foveal Hypoplasia and Anterior Segment Dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC38A8 solute carrier family 38 member 8 ISO OMIM NCBI chr 6:4,563,967...4,593,667
Ensembl chr 6:4,564,541...4,600,789 		JBrowse link
Fraser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FRAS1 Fraser extracellular matrix complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17163535 NCBI chr 8:73,502,368...73,959,454
Ensembl chr 8:73,502,664...73,958,083 		JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17163535 NCBI chr11:13,775,267...14,116,377
Ensembl chr11:13,959,865...14,154,246 		JBrowse link
Fraser syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FRAS1 Fraser extracellular matrix complex subunit 1 ISO OMIM NCBI chr 8:73,502,368...73,959,454
Ensembl chr 8:73,502,664...73,958,083 		JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: FRASER SYNDROME 1
ClinVar Annotator: match by term: Fraser syndrome 1		 ClinVar PMID:25741868 PMID:26275891 PMID:28492532 NCBI chr11:13,775,267...14,116,377
Ensembl chr11:13,959,865...14,154,246 		JBrowse link
G GRIP1 glutamate receptor interacting protein 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 1
ClinVar Annotator: match by term: Cryptophthalmos syndrome		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:30,697,018...31,175,412
Ensembl chr 5:30,697,018...31,020,790 		JBrowse link
Fraser syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FREM2 FRAS1 related extracellular matrix 2 ISO OMIM NCBI chr11:13,775,267...14,116,377
Ensembl chr11:13,959,865...14,154,246 		JBrowse link
Fraser syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif 14 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr14:73,565,158...73,657,257
Ensembl chr14:73,500,281...73,654,982 		JBrowse link
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr12:50,903,358...50,917,187
Ensembl chr12:50,903,438...50,920,437 		JBrowse link
G ASPA aspartoacylase ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr12:49,612,845...49,630,303
Ensembl chr12:49,610,519...49,641,905 		JBrowse link
G BCLAF1 BCL2 associated transcription factor 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 1:27,872,167...27,902,980
Ensembl chr 1:27,872,184...27,919,899 		JBrowse link
G BORCS6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr12:53,394,514...53,406,752
Ensembl chr12:53,404,339...53,406,207 		JBrowse link
G GNB5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 1:119,545,382...119,589,860
Ensembl chr 1:119,484,397...119,589,868 		JBrowse link
G GRIP1 glutamate receptor interacting protein 1 ISO OMIM NCBI chr 5:30,697,018...31,175,412
Ensembl chr 5:30,697,018...31,020,790 		JBrowse link
G LOC100511114 zinc finger X-linked protein ZXDB ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr  X:49,787,449...49,790,835 JBrowse link
G LSM10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 6:92,489,921...92,496,886
Ensembl chr 6:92,489,924...92,493,665 		JBrowse link
G MED23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 1:31,959,934...32,001,591
Ensembl chr 1:31,959,934...32,001,584 		JBrowse link
G MPC1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 1:2,541,475...2,552,864 JBrowse link
G MYO18B myosin XVIIIB ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr14:43,467,823...43,687,729
Ensembl chr14:43,451,850...43,687,727 		JBrowse link
G ODAD1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:53,729,915...53,754,508 JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar PMID:28492532 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225 		JBrowse link
G SPATA22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr12:49,573,050...49,609,232 JBrowse link
G TLCD3A TLC domain containing 3A ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr12:47,116,523...47,125,523
Ensembl chr12:47,116,565...47,125,147 		JBrowse link
G WDR81 WD repeat domain 81 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr12:47,921,818...47,933,782
Ensembl chr12:47,922,002...47,933,780 		JBrowse link
Frontonasal Dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX1 ALX homeobox 1 ISO OMIM NCBI chr 5:96,761,683...96,785,125
Ensembl chr 5:96,762,592...96,784,972 		JBrowse link
Gillespie syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO OMIM NCBI chr13:61,068,131...61,398,918
Ensembl chr13:61,068,126...61,398,908 		JBrowse link
HEART AND BRAIN MALFORMATION SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMG9 SMG9 nonsense mediated mRNA decay factor ISO OMIM NCBI chr 6:50,550,743...50,569,753
Ensembl chr 6:50,524,527...50,569,738 		JBrowse link
Hereditary Macular Coloboma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842230 NCBI chr 6:70,271,296...70,307,403
Ensembl chr 6:70,272,030...70,310,603 		JBrowse link
Hittner Hirsch Kreh Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:16763960 PMID:17661815 PMID:18073582 PMID:18414213 PMID:18445044 PMID:18834967 PMID:21158681 PMID:21995344 PMID:22033296 PMID:22461308 PMID:22539353 PMID:23378218 PMID:23533228 PMID:24033266 PMID:24862881 PMID:25077900 PMID:25107291 PMID:25741868 PMID:25931334 PMID:25996639 PMID:26467025 PMID:28475860 PMID:28492532 PMID:29255181 PMID:29304373 PMID:31042289 NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,571,874...72,754,432 		JBrowse link
hydrophthalmos term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO DNA:insertion, deletions:exons, intron:g.1209_1214insC, g.1410_1422del, g.1389-?-1422+?del (human) RGD PMID:9097971 RGD:1599716 NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,206,750 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO RGD PMID:22426483 RGD:8549773 NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,620,700...5,795,264 		JBrowse link
G KDR kinase insert domain receptor ISO RGD PMID:22426483 RGD:8549773 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,116...41,856,339 		JBrowse link
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRPF1 bromodomain and PHD finger containing 1 ISO OMIM NCBI chr13:66,021,047...66,037,446
Ensembl chr13:66,021,301...66,037,427 		JBrowse link
iridogoniodysgenesis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITX2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Iridogoniodysgenesis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,664...111,723,298 		JBrowse link
isolated cryptophthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FREM1 FRAS1 related extracellular matrix 1 ISO DNA:deletion, frame shift:cds, splice junction:
DNA:missense mutation:cds:c.1687A>T c (p.I563F)(mouse)		 RGD PMID:23221805 PMID:23536828 RGD:11554181 RGD:11554185 NCBI chr 1:207,535,811...207,804,525
Ensembl chr 1:207,640,839...207,801,952 		JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 ISO OMIM NCBI chr11:13,775,267...14,116,377
Ensembl chr11:13,959,865...14,154,246 		JBrowse link
isolated microphthalmia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VSX2 visual system homeobox 2 ISO OMIM NCBI chr 7:97,532,021...97,551,072
Ensembl chr 7:97,532,059...97,551,032 		JBrowse link
isolated microphthalmia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAX retina and anterior neural fold homeobox ISO OMIM NCBI chr 1:161,679,154...161,683,486
Ensembl chr 1:161,679,154...161,683,060 		JBrowse link
isolated microphthalmia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF6 growth differentiation factor 6 ISO OMIM NCBI chr 4:40,473,015...40,491,142
Ensembl chr 4:40,473,013...40,489,032 		JBrowse link
isolated microphthalmia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1QTNF5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Microphthalmia, isolated 5
ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen		 ClinVar PMID:1258954 PMID:12140190 PMID:15976030 PMID:17167404 PMID:18554571 PMID:18648522 PMID:19169412 PMID:19753314 PMID:20361016 PMID:21670352 PMID:22142163 PMID:22605927 PMID:22892318 PMID:23112574 PMID:23143909 PMID:23742260 PMID:24088041 PMID:24531000 PMID:25097241 PMID:25412400 PMID:25741868 PMID:26583794 PMID:26633545 PMID:28492532 PMID:29170418 PMID:29450879 PMID:30181649 NCBI chr 9:46,548,175...46,550,146 JBrowse link
G MFRP membrane frizzled-related protein ISO OMIM NCBI chr 9:46,550,383...46,556,305
Ensembl chr 9:46,548,175...46,556,077 		JBrowse link
isolated microphthalmia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1QTNF5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Microphthalmia, isolated 6 ClinVar PMID:19169412 PMID:25741868 PMID:28492532 NCBI chr 9:46,548,175...46,550,146 JBrowse link
G MFRP membrane frizzled-related protein ISO ClinVar Annotator: match by term: Microphthalmia, isolated 6 ClinVar PMID:19169412 PMID:25741868 PMID:28492532 NCBI chr 9:46,550,383...46,556,305
Ensembl chr 9:46,548,175...46,556,077 		JBrowse link
G PRSS56 serine protease 56 ISO OMIM NCBI chr15:133,033,848...133,039,583
Ensembl chr15:133,034,454...133,039,367 		JBrowse link
G VSX2 visual system homeobox 2 ISO ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC ClinVar NCBI chr 7:97,532,021...97,551,072
Ensembl chr 7:97,532,059...97,551,032 		JBrowse link
isolated microphthalmia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF3 growth differentiation factor 3 ISO OMIM NCBI chr 5:62,835,926...62,841,827
Ensembl chr 5:62,835,979...62,841,665 		JBrowse link
isolated microphthalmia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH1A3 aldehyde dehydrogenase 1 family member A3 ISO OMIM NCBI chr 1:139,451,080...139,491,514
Ensembl chr 1:139,451,049...139,491,513 		JBrowse link
Isolated Microphthalmia with Cataract 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SIX6 SIX homeobox 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus		 CTD
ClinVar		 PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr 1:189,497,807...189,503,189
Ensembl chr 1:189,497,815...189,503,500 		JBrowse link
Isolated Microphthalmia with Cataract 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NHS NHS actin remodeling regulator ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with cataract 3 ClinVar PMID:25741868 NCBI chr  X:13,854,950...14,209,085
Ensembl chr  X:13,855,340...14,209,664 		JBrowse link
Isolated Microphthalmia with Coloboma 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RBP4 retinol binding protein 4 ISO OMIM NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,036,770...105,044,765 		JBrowse link
Isolated Microphthalmia with Coloboma 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VSX2 visual system homeobox 2 ISO OMIM NCBI chr 7:97,532,021...97,551,072
Ensembl chr 7:97,532,059...97,551,032 		JBrowse link
Isolated Microphthalmia with Coloboma 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SHH sonic hedgehog signaling molecule ISO OMIM NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,718...2,555,484 		JBrowse link
Isolated Microphthalmia with Coloboma 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF3 growth differentiation factor 3 ISO OMIM NCBI chr 5:62,835,926...62,841,827
Ensembl chr 5:62,835,979...62,841,665 		JBrowse link
G GDF6 growth differentiation factor 6 ISO OMIM NCBI chr 4:40,473,015...40,491,142
Ensembl chr 4:40,473,013...40,489,032 		JBrowse link
Isolated Microphthalmia with Coloboma 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB6 ATP binding cassette subfamily B member 6 (Langereis blood group) ISO OMIM NCBI chr15:121,246,180...121,254,350
Ensembl chr15:121,246,186...121,254,332 		JBrowse link
Isolated Microphthalmia with Coloboma 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TENM3 teneurin transmembrane protein 3 ISO OMIM NCBI chr15:41,818,190...44,401,747
Ensembl chr15:43,787,465...44,399,718 		JBrowse link
Joubert syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHI1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:15322546 PMID:15467982 PMID:16453322 PMID:25616960 PMID:25741868 PMID:28492532 NCBI chr 1:28,566,279...28,760,471
Ensembl chr 1:28,566,266...28,760,468 		JBrowse link
G ARL13B ADP ribosylation factor like GTPase 13B ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:165,829,772...165,910,959
Ensembl chr13:165,828,059...165,911,011 		JBrowse link
G B9D1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:24886560 PMID:26092869 NCBI chr12:60,162,656...60,171,586
Ensembl chr12:60,162,707...60,171,961 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome		 ClinVar PMID:18950740 PMID:19777577 PMID:21068128 PMID:22241855 PMID:22425360 PMID:22995991 PMID:23012439 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26485645 PMID:27081510 PMID:27082236 PMID:28492532 NCBI chr 8:10,779,206...10,898,189
Ensembl chr 8:10,779,332...10,898,193 		JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Familial aplasia of the vermis		 ClinVar PMID:16909394 PMID:17345604 PMID:17564967 PMID:17564974 PMID:17964524 PMID:20079931 PMID:20690115 PMID:21153841 PMID:21602930 PMID:21866095 PMID:23027964 PMID:23188109 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23847139 PMID:25741868 PMID:26047050 PMID:26092869 PMID:27491411 PMID:28492532 PMID:28497568 PMID:29146704 PMID:29398085 PMID:30718709 NCBI chr 5:94,384,397...94,474,337
Ensembl chr 5:94,384,414...94,475,057 		JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:26092869 NCBI chr16:22,381,001...22,501,052
Ensembl chr16:22,381,327...22,500,998 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO OMIM
G MICALL2 MICAL like 2 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar NCBI chr 3:951,330...971,129
Ensembl chr 3:951,323...971,111 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:17185389 PMID:17397051 PMID:23351400 PMID:28492532 NCBI chr12:34,499,139...34,512,191
Ensembl chr12:34,499,141...34,512,187 		JBrowse link
G NPHP1 nephrocystin 1 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:24746959 PMID:25741868 PMID:28492532 NCBI chr 3:46,316,864...46,378,279
Ensembl chr 3:46,281,570...46,377,273 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:10,361,403...10,415,502 JBrowse link
G RPGRIP1L RPGRIP1 like ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Familial aplasia of the vermis		 ClinVar PMID:17558409 PMID:19430481 PMID:25741868 PMID:28492532 NCBI chr 6:31,564,937...31,660,540
Ensembl chr 6:31,564,986...31,661,194 		JBrowse link
G TCTN1 tectonic family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21725307 NCBI chr14:31,953,996...32,010,202
Ensembl chr14:31,954,000...32,010,199 		JBrowse link
G TMEM216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Agenesis of cerebellar vermis		 ClinVar PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26673778 PMID:28492532 PMID:28497568 NCBI chr 2:10,107,598...10,122,266
Ensembl chr 2:10,115,607...10,121,811 		JBrowse link
G TMEM237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr15:105,255,485...105,276,624
Ensembl chr15:105,252,479...105,276,771 		JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Familial aplasia of the vermis		 ClinVar PMID:9375913 PMID:17377820 PMID:17397051 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28431631 PMID:28492532 PMID:29891882 NCBI chr 4:42,878,249...42,931,106
Ensembl chr 4:42,878,254...42,931,121 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:21258341 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:72,430,250...72,512,503
Ensembl chr15:72,430,725...72,512,491 		JBrowse link
Joubert Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM216 transmembrane protein 216 ISO OMIM NCBI chr 2:10,107,598...10,122,266
Ensembl chr 2:10,115,607...10,121,811 		JBrowse link
Joubert syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr13:65,117,868...65,130,886
Ensembl chr13:65,117,776...65,134,066 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A no_association ISO DNA:mutations: :multiple OMIM
RGD		 PMID:22241855 RGD:11062645 NCBI chr 8:10,779,206...10,898,189
Ensembl chr 8:10,779,332...10,898,193 		JBrowse link
G CEP41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic ClinVar PMID:20301500 PMID:22246503 PMID:28492532 PMID:30664616 NCBI chr18:18,416,170...18,462,579
Ensembl chr18:18,416,259...18,462,575 		JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar PMID:10766140 PMID:16123440 PMID:19431183 PMID:24265693 PMID:25741868 PMID:28492532 NCBI chr 6:144,206,078...144,229,471
Ensembl chr 6:144,206,077...144,293,709 		JBrowse link
G SMAD6 SMAD family member 6 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr 1:164,652,602...164,735,084
Ensembl chr 1:164,657,086...164,735,083 		JBrowse link
Kahrizi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100525350 polyprenol reductase ISO OMIM NCBI chr 8:42,024,352...42,049,209 JBrowse link
Kaufman oculocerebrofacial syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ROR2 receptor tyrosine kinase like orphan receptor 2 ISO ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome ClinVar PMID:18414213 PMID:25741868 NCBI chr14:2,803,840...3,035,384
Ensembl chr14:2,804,061...3,035,241 		JBrowse link
G UBE3B ubiquitin protein ligase E3B ISO OMIM NCBI chr14:41,383,238...41,442,752
Ensembl chr14:41,383,240...41,442,477 		JBrowse link
linear skin defects with multiple congenital anomalies 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HCCS holocytochrome c synthase ISO OMIM NCBI chr  X:7,882,609...7,894,489
Ensembl chr  X:7,882,723...7,896,747 		JBrowse link
G LOC100516480 cytochrome c oxidase subunit 7B, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:61,962,383...61,969,011
Ensembl chr  X:61,962,415...62,077,376 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1		 CTD
ClinVar		 PMID:25741868 PMID:25772934 NCBI chr  X:41,770,929...41,773,879
Ensembl chr  X:41,770,938...41,774,247 		JBrowse link
Marden-Walker Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO OMIM NCBI chr 6:97,644,115...97,945,693
Ensembl chr 6:97,643,366...97,944,418 		JBrowse link
Marles Greenberg Persaud Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FREM1 FRAS1 related extracellular matrix 1 ISO OMIM NCBI chr 1:207,535,811...207,804,525
Ensembl chr 1:207,640,839...207,801,952 		JBrowse link
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF11 kinesin family member 11 ISO OMIM NCBI chr14:104,125,839...104,177,381
Ensembl chr14:104,125,898...104,177,379 		JBrowse link
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 ISO OMIM NCBI chr 6:10,488,504...10,652,508
Ensembl chr 6:10,173,263...10,652,504 		JBrowse link
microphthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A ISO ClinVar Annotator: match by term: Microphthalmia ClinVar PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 PMID:25920557 PMID:25944381 PMID:28492532 PMID:32581362 NCBI chr13:201,008,506...201,159,946
Ensembl chr13:201,008,830...201,159,954 		JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia
ClinVar Annotator: match by term: Microphthalmia		 ClinVar NCBI chr 2:29,006,456...29,230,092
Ensembl chr 2:29,004,986...29,230,077 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10739753 NCBI chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898 		JBrowse link
G FANCD2 FA complementation group D2 ISO RGD PMID:12893777 RGD:11344906 NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,673...66,310,436 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: therapeutic CTD PMID:32472575 NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,210...112,814,134 		JBrowse link
G GJA8 gap junction protein alpha 8 ISO DNA:missense mutation:cds:p.L7Q(rat) RGD PMID:18470322 RGD:2293186 NCBI chr 4:99,721,754...99,724,943
Ensembl chr 4:99,723,341...99,724,672 		JBrowse link
G HCCS holocytochrome c synthase ISO microphthalmia with linear skin defects, OMIM:309801, DNA:point mutations:exon:R197X, R217C RGD PMID:17033964 RGD:1600417 NCBI chr  X:7,882,609...7,894,489
Ensembl chr  X:7,882,723...7,896,747 		JBrowse link
G HMX1 H6 family homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19379485 NCBI chr 8:2,440,727...2,445,549
Ensembl chr 8:2,441,075...2,444,846 		JBrowse link
G LRP5 LDL receptor related protein 5 ISO DNA:mutation:splice junction: RGD PMID:28111184 RGD:12793059 NCBI chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,593...4,653,945 		JBrowse link
G MFRP membrane frizzled-related protein ISO DNA:nonsense mutations:exons:c.271C>T,c.498dupC(human) RGD PMID:23742260 RGD:11553922 NCBI chr 9:46,550,383...46,556,305
Ensembl chr 9:46,548,175...46,556,077 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Anophthalmia/Microphthalmia ClinVar PMID:26893459 PMID:28492532
G PAX6 paired box 6 ISO human gene in a mouse model
ClinVar Annotator: match by term: Anophthalmia - microphthalmia		 RGD
ClinVar		 PMID:9727514 PMID:12868034 PMID:15086958 PMID:16407227 PMID:17417613 PMID:18507827 PMID:18776953 PMID:25741868 PMID:28492532 RGD:8552240 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200 		JBrowse link
G PITX3 paired like homeodomain 3 ISO DNA:nonsense mutation:cl444C>A(mouse)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16565358 PMID:25347445 RGD:11535071 NCBI chr14:113,230,194...113,241,393
Ensembl chr14:113,230,965...113,241,360 		JBrowse link
G PRSS56 serine protease 56 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532570 NCBI chr15:133,033,848...133,039,583
Ensembl chr15:133,034,454...133,039,367 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:31690747 PMID:32472575 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,718...2,555,484 		JBrowse link
G SIX6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:189,497,807...189,503,189
Ensembl chr 1:189,497,815...189,503,500 		JBrowse link
G STAU2 staufen double-stranded RNA binding protein 2 ISO RGD PMID:22940085 RGD:10043154 NCBI chr 4:62,139,456...62,455,509
Ensembl chr 4:62,139,505...62,455,501 		JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18316031 NCBI chr 7:59,317,930...59,347,274
Ensembl chr 7:59,318,010...59,347,267 		JBrowse link
G TFAP2A transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Nanophthalmos ClinVar PMID:25741868 NCBI chr 7:7,221,654...7,244,626
Ensembl chr 7:7,221,656...7,244,477 		JBrowse link
G VSX2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Microphthalmia
ClinVar Annotator: match by term: Anophthalmia/Microphthalmia		 ClinVar PMID:15257456 PMID:24033328 PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr 7:97,532,021...97,551,072
Ensembl chr 7:97,532,059...97,551,032 		JBrowse link
Microphthalmia, Cataracts, and Iris Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMAD4 SMAD family member 4 ISO RGD PMID:20735985 RGD:12880033 NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,514,791...100,628,029 		JBrowse link
G VSX2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Microphthalmia, cataracts, and iris abnormalities ClinVar PMID:11341888 PMID:17661825 NCBI chr 7:97,532,021...97,551,072
Ensembl chr 7:97,532,059...97,551,032 		JBrowse link
Microspherophakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LTBP2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Microspherophakia ClinVar PMID:19361779 PMID:20179738 PMID:20617341 PMID:21081970 PMID:22025892 PMID:25741868 PMID:28492532 NCBI chr 7:97,744,974...97,852,848
Ensembl chr 7:97,745,396...97,852,502 		JBrowse link
Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LTBP2 latent transforming growth factor beta binding protein 2 ISO OMIM NCBI chr 7:97,744,974...97,852,848
Ensembl chr 7:97,745,396...97,852,502 		JBrowse link
nanophthalmos term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1QTNF5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Nanophthalmos ClinVar PMID:25412400 PMID:26583794 PMID:28492532 PMID:29170418 PMID:30181649 NCBI chr 9:46,548,175...46,550,146 JBrowse link
G MFRP membrane frizzled-related protein ISO ClinVar Annotator: match by term: Nanophthalmos ClinVar PMID:25412400 PMID:26583794 PMID:28492532 PMID:29170418 PMID:30181649 NCBI chr 9:46,550,383...46,556,305
Ensembl chr 9:46,548,175...46,556,077 		JBrowse link
G PRSS56 serine protease 56 ISO ClinVar Annotator: match by term: Nanophthalmos ClinVar PMID:19526372 PMID:21397065 PMID:21532570 PMID:21670352 PMID:22908982 PMID:23127749 PMID:24033266 PMID:24227917 NCBI chr15:133,033,848...133,039,583
Ensembl chr15:133,034,454...133,039,367 		JBrowse link
Nanophthalmos 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYRF myelin regulatory factor ISO ClinVar Annotator: match by term: Nanophthalmos 1 ClinVar NCBI chr 2:9,761,230...9,795,873 JBrowse link
Nanophthalmos 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1QTNF5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Nanophthalmos 2 ClinVar PMID:1258954 PMID:15976030 PMID:17167404 PMID:18554571 PMID:19753314 PMID:20361016 PMID:22605927 PMID:23112574 PMID:23143909 PMID:28492532 PMID:32996714 NCBI chr 9:46,548,175...46,550,146 JBrowse link
G MFRP membrane frizzled-related protein ISO OMIM NCBI chr 9:46,550,383...46,556,305
Ensembl chr 9:46,548,175...46,556,077 		JBrowse link
Nanophthalmos 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM98 transmembrane protein 98 ISO OMIM NCBI chr12:42,087,691...42,101,152
Ensembl chr12:42,083,553...42,100,494 		JBrowse link
Nasopalpebral Lipoma Coloboma Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZDBF2 zinc finger DBF-type containing 2 ISO ClinVar Annotator: match by term: Nasopalpebral lipoma coloboma syndrome ClinVar PMID:23636874 PMID:27139419 NCBI chr15:109,563,445...109,593,858
Ensembl chr15:109,563,440...109,589,700 		JBrowse link
nephrotic syndrome type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMB2 laminin subunit beta 2 ISO OMIM NCBI chr13:31,738,282...31,750,623
Ensembl chr13:31,738,284...31,771,220 		JBrowse link
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RERE arginine-glutamic acid dipeptide repeats ISO OMIM NCBI chr 6:68,954,766...69,258,855 JBrowse link
oblique facial clefting 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like ISO OMIM NCBI chr14:49,332,937...49,463,965 JBrowse link
oculoauricular syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FADD Fas associated via death domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr 2:3,191,718...3,194,820
Ensembl chr 2:3,186,744...3,194,792 		JBrowse link
G HMX1 H6 family homeobox 1 ISO OMIM NCBI chr 8:2,440,727...2,445,549
Ensembl chr 8:2,441,075...2,444,846 		JBrowse link
oculodentodigital dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO OMIM NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137 		JBrowse link
Oculodentodigital Dysplasia, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO OMIM NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137 		JBrowse link
Ohdo syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,578...57,175,352 		JBrowse link
Ohdo Syndrome, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED12 mediator complex subunit 12 ISO OMIM NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,578...57,175,352 		JBrowse link
optic disc anomalies with retinal and/or macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SIX6 SIX homeobox 6 ISO OMIM NCBI chr 1:189,497,807...189,503,189
Ensembl chr 1:189,497,815...189,503,500 		JBrowse link
persistent hyperplastic primary vitreous term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDP norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous ClinVar PMID:25741868 NCBI chr  X:39,208,115...39,235,879
Ensembl chr  X:39,208,119...39,235,758 		JBrowse link
G P14ARF p14ARF protein ISO RGD PMID:16620915 RGD:8552304 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,774,496...200,798,854 		JBrowse link
G PAX6 paired box 6 ISO DNA:snp:cds:pN64K (mouse) RGD PMID:19345209 RGD:8551891 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200 		JBrowse link
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATOH7 atonal bHLH transcription factor 7 ISO OMIM NCBI chr14:71,398,939...71,402,479
Ensembl chr14:71,400,980...71,401,447 		JBrowse link
G TSPAN12 tetraspanin 12 ISO ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive ClinVar PMID:25250762 NCBI chr18:26,046,645...26,112,924
Ensembl chr18:26,046,703...26,112,923 		JBrowse link
Peters anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO DNA:snp:cds:p.G61E (human)
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar Annotator: match by term: Peters anomaly		 RGD
ClinVar		 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11558822 PMID:11774072 PMID:11854439 PMID:11980847 PMID:12036985 PMID:14507861 PMID:15037581 PMID:15255109 PMID:15342693 PMID:15621878 PMID:16688110 PMID:16735991 PMID:16735994 PMID:16862072 PMID:17363580 PMID:17563717 PMID:17591938 PMID:17718864 PMID:18470941 PMID:18537981 PMID:18622259 PMID:18852424 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:20198978 PMID:20664688 PMID:21081970 PMID:21168818 PMID:21815720 PMID:21850185 PMID:21854771 PMID:22004014 PMID:22128238 PMID:23028769 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25527694 PMID:25646030 PMID:25741868 PMID:25950505 PMID:25978063 PMID:27060699 PMID:27243976 PMID:27272408 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27820421 PMID:28384041 PMID:28448622 PMID:28492532 PMID:28620713 PMID:29556725 PMID:30653986 PMID:30788381 PMID:32499604 PMID:32832252 RGD:7800682 NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,206,750 		JBrowse link
G DAB1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chr 6:154,156,595...155,374,403
Ensembl chr 6:154,936,439...155,374,403 		JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar NCBI chr 2:29,006,456...29,230,092
Ensembl chr 2:29,004,986...29,230,077 		JBrowse link
G EPHB2 EPH receptor B2 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chr 6:80,649,098...80,849,979
Ensembl chr 6:80,649,143...80,843,567 		JBrowse link
G FAT1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chr17:8,466,099...8,580,715
Ensembl chr17:8,448,760...8,580,715 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chr 8:99,141,967...99,312,131 JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:21931569 PMID:26893459 NCBI chr 1:207,535,811...207,804,525
Ensembl chr 1:207,640,839...207,801,952 		JBrowse link
G PAX6 paired box 6 ISO DNA:snp:cds:pN64K (mouse)
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar Annotator: match by term: Peters anomaly
CTD Direct Evidence: marker/mechanism		 RGD
ClinVar
CTD		 PMID:19345209 PMID:24281366 PMID:25741868 PMID:28492532 PMID:32499604 RGD:8551891 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200 		JBrowse link
G PITRM1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Peters anomaly
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis		 ClinVar PMID:26893459 NCBI chr10:66,996,919...67,021,692
Ensembl chr10:66,996,924...67,049,946 		JBrowse link
G PITX2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar Annotator: match by term: Peters anomaly		 ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,664...111,723,298 		JBrowse link
G PRPF8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chr12:47,861,041...47,895,286
Ensembl chr12:47,861,043...47,895,193 		JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:1347096 PMID:26893459 PMID:28492532 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225 		JBrowse link
G RARG retinoic acid receptor gamma ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chr 5:18,436,267...18,458,625
Ensembl chr 5:18,436,267...18,458,625 		JBrowse link
G RMDN2 regulator of microtubule dynamics 2 ISO ClinVar Annotator: match by term: Peters anomaly
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis		 ClinVar NCBI chr 3:102,210,367...102,307,355
Ensembl chr 3:102,215,140...102,424,775 		JBrowse link
Peters plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GLCT beta 3-glucosyltransferase ISO OMIM NCBI chr11:7,792,160...7,907,052
Ensembl chr11:7,792,367...7,907,052 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Peters plus syndrome ClinVar PMID:25741868 PMID:29584859 NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,210...112,814,134 		JBrowse link
PHACE Association term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: PHACES association ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 PMID:16825433 PMID:17551924 PMID:18039235 PMID:18413255 PMID:19206169 PMID:23875798 PMID:24033266 PMID:24283439 PMID:31474318 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553 		JBrowse link
Pierson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LAMB2 laminin subunit beta 2 ISO OMIM NCBI chr13:31,738,282...31,750,623
Ensembl chr13:31,738,284...31,771,220 		JBrowse link
popliteal pterygium syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRF6 interferon regulatory factor 6 ISO OMIM NCBI chr 9:133,164,360...133,184,045
Ensembl chr 9:133,164,440...133,185,628 		JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Popliteal pterygium syndrome ClinVar NCBI chr13:205,127,239...205,153,000
Ensembl chr13:205,127,239...205,153,007 		JBrowse link
Popliteal Pterygium Syndrome, Lethal Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RIPK4 receptor interacting serine/threonine kinase 4 ISO OMIM NCBI chr13:205,127,239...205,153,000
Ensembl chr13:205,127,239...205,153,007 		JBrowse link
renal coloboma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAX2 paired box 2 ISO OMIM NCBI chr14:111,822,334...111,914,950
Ensembl chr14:111,834,168...111,914,304 		JBrowse link
Retinal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRB1 crumbs cell polarity complex component 1 treatment ISO RGD PMID:24346171 RGD:8552698 NCBI chr10:20,137,246...20,332,539
Ensembl chr10:20,137,451...20,332,414 		JBrowse link
G SLBP stem-loop binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30695021 NCBI chr 8:802,940...818,161
Ensembl chr 8:802,940...826,192 		JBrowse link
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR204 microRNA mir-204 ISO OMIM NCBI chr 1:224,065,494...224,065,602
Ensembl chr 1:224,065,494...224,065,602 		JBrowse link
G TRPM3 transient receptor potential cation channel subfamily M member 3 ISO ClinVar Annotator: match by term: Retinal dystrophy and iris coloboma with or without congenital cataract ClinVar PMID:26056285 NCBI chr 1:223,833,263...224,682,424
Ensembl chr 1:223,836,213...224,680,190 		JBrowse link
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RBP4 retinol binding protein 4 ISO OMIM NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,036,770...105,044,765 		JBrowse link
Stromme syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPF centromere protein F ISO OMIM NCBI chr 9:128,948,386...129,012,241
Ensembl chr 9:128,948,497...129,012,218 		JBrowse link
syndromic microphthalmia term browser
Symbol Object Name Qualifiers 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 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,134...183,792,417 		JBrowse link
G OTX2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant ClinVar PMID:28492532 NCBI chr 1:186,028,575...186,039,026
Ensembl chr 1:186,028,575...186,038,229 		JBrowse link
syndromic microphthalmia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCOR BCL6 corepressor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lenz microphthalmia syndrome
DNA:missense mutation:exon:254C>T (p.P85L) (human)		 CTD
ClinVar
RGD		 PMID:15004558 PMID:25741868 PMID:28492532 RGD:1600504 NCBI chr  X:35,768,013...35,891,013 JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO OMIM NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,657,671...124,667,052 		JBrowse link
syndromic microphthalmia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VAX1 ventral anterior homeobox 1 ISO OMIM NCBI chr14:127,269,723...127,277,007
Ensembl chr14:127,271,566...127,275,738 		JBrowse link
syndromic microphthalmia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RARB retinoic acid receptor beta ISO OMIM NCBI chr13:12,336,387...12,507,688 JBrowse link
syndromic microphthalmia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMGB3 high mobility group box 3 ISO OMIM NCBI chr  X:122,591,413...122,599,496
Ensembl chr  X:122,592,936...122,599,493 		JBrowse link
syndromic microphthalmia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRBA LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Microphthalmia/coloboma and skeletal dysplasia syndrome ClinVar PMID:24906020 PMID:25719200 PMID:25741868 PMID:32860008 NCBI chr 8:77,970,087...78,680,307
Ensembl chr 8:77,970,069...78,680,275 		JBrowse link
G MAB21L2 mab-21 like 2 ISO OMIM NCBI chr 8:78,385,176...78,388,008
Ensembl chr 8:78,381,994...78,387,069 		JBrowse link
syndromic microphthalmia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCOR BCL6 corepressor ISO OMIM NCBI chr  X:35,768,013...35,891,013 JBrowse link
syndromic microphthalmia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 1:189,497,807...189,503,189
Ensembl chr 1:189,497,815...189,503,500 		JBrowse link
G SOX2 SRY-box transcription factor 2 ISO OMIM NCBI chr13:119,668,476...119,669,435 JBrowse link
syndromic microphthalmia 5 term browser
Symbol Object Name Qualifiers 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 3:126,795,513...126,853,995
Ensembl chr 3:126,795,426...126,853,995 		JBrowse link
G ARR3 arrestin 3 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr  X:56,295,107...56,310,507
Ensembl chr  X:56,296,596...56,310,504 		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 PMID:25980754 PMID:26182300 PMID:26467025 PMID:26893459 PMID:27582386 PMID:27621404 PMID:28492532 PMID:29577179 PMID:30311375 NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986 		JBrowse link
G CEP83 centrosomal protein 83 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 5:88,770,706...88,909,874
Ensembl chr 5:88,770,532...88,909,881 		JBrowse link
G CHRD chordin ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr13:122,266,632...122,277,513
Ensembl chr13:122,266,615...122,277,509 		JBrowse link
G CYP26C1 cytochrome P450 family 26 subfamily C member 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr14:104,550,901...104,558,977
Ensembl chr14:104,551,333...104,558,977 		JBrowse link
G DICER1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chr 7:116,361,630...116,436,471
Ensembl chr 7:116,361,630...116,436,519 		JBrowse link
G EFHD1 EF-hand domain family member D1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr15:133,120,092...133,169,430
Ensembl chr15:133,120,093...133,169,429 		JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar NCBI chr 2:29,006,456...29,230,092
Ensembl chr 2:29,004,986...29,230,077 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 8:99,141,967...99,312,131 JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26467025 PMID:26893459 NCBI chr 8:879,151...894,968
Ensembl chr 8:879,151...895,912 		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 NCBI chr 8:73,502,368...73,959,454
Ensembl chr 8:73,502,664...73,958,083 		JBrowse link
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306 		JBrowse link
G IFT172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 3:111,683,674...111,718,504
Ensembl chr 3:111,683,669...111,718,971 		JBrowse link
G KRTCAP3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 3:111,718,581...111,720,245
Ensembl chr 3:111,718,806...111,720,186 		JBrowse link
G MAP3K1 mitogen-activated protein kinase kinase kinase 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr16:35,872,301...35,947,097
Ensembl chr16:35,871,799...35,946,987 		JBrowse link
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,096 		JBrowse link
G MYO1C myosin IC ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr12:47,691,252...47,715,670
Ensembl chr12:47,691,252...47,738,439 		JBrowse link
G NDST2 N-deacetylase and N-sulfotransferase 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr14:76,525,998...76,534,695 JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532
G NOTCH4 notch receptor 4 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281 		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 chr10:22,727,865...22,866,905
Ensembl chr10:22,715,735...22,866,904 		JBrowse link
G OTX2 orthodenticle homeobox 2 ISO OMIM NCBI chr 1:186,028,575...186,039,026
Ensembl chr 1:186,028,575...186,038,229 		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 PMID:18776953 PMID:25741868 PMID:26893459 PMID:28492532 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200 		JBrowse link
G PFKP phosphofructokinase, platelet ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr10:67,022,652...67,082,336
Ensembl chr10:67,022,652...67,082,451 		JBrowse link
G PLXNC1 plexin C1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 5:88,900,238...89,055,837
Ensembl chr 5:88,900,234...89,055,764 		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:26802149 PMID:26893459 PMID:28492532 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225 		JBrowse link
G RAX retina and anterior neural fold homeobox ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar NCBI chr 1:161,679,154...161,683,486
Ensembl chr 1:161,679,154...161,683,060 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chr 7:77,813,964...77,903,973
Ensembl chr 7:77,814,708...77,903,928 		JBrowse link
G SALL3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 1:146,251,591...146,273,778
Ensembl chr 1:146,252,154...146,274,620 		JBrowse link
G SEZ6L2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 3:18,098,109...18,119,522
Ensembl chr 3:18,098,109...18,119,558 		JBrowse link
G SFRP2 secreted frizzled related protein 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 8:75,337,311...75,345,926
Ensembl chr 8:75,337,133...75,345,926 		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 1:189,497,807...189,503,189
Ensembl chr 1:189,497,815...189,503,500 		JBrowse link
G SOX14 SRY-box transcription factor 14 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr13:78,620,818...78,621,702
Ensembl chr13:78,620,984...78,622,577 		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 7:59,317,930...59,347,274
Ensembl chr 7:59,318,010...59,347,267 		JBrowse link
G SULF1 sulfatase 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 4:65,595,947...65,778,889
Ensembl chr 4:65,595,949...65,778,884 		JBrowse link
G TAMALIN trafficking regulator and scaffold protein tamalin ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 5:17,357,625...17,366,033
Ensembl chr 5:17,357,866...17,367,453 		JBrowse link
G TSHZ2 teashirt zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr17:54,111,262...54,374,699 JBrowse link
G VAX2 ventral anterior homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr 3:71,593,807...71,622,487
Ensembl chr 3:71,593,807...71,622,444 		JBrowse link
G VSX2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:24033328 PMID:26893459 NCBI chr 7:97,532,021...97,551,072
Ensembl chr 7:97,532,059...97,551,032 		JBrowse link
G WNT7A Wnt family member 7A ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chr13:70,538,802...70,602,464
Ensembl chr13:70,538,894...70,602,455 		JBrowse link
G WNT7B Wnt family member 7B ISO ClinVar Annotator: mat