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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Eye Abnormalities
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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.

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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 chrNW_004955405:34,619,780...34,693,616
Ensembl chrNW_004955405:34,623,267...34,693,677 		JBrowse link
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:16938888 NCBI chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832 		JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15804571 NCBI chrNW_004955510:5,812,571...5,936,312
Ensembl chrNW_004955510:5,905,008...5,936,312 		JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15804571 NCBI chrNW_004955405:5,408,171...5,784,930
Ensembl chrNW_004955405:5,700,162...5,787,957 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20385946 NCBI chrNW_004955404:2,196,193...2,327,324
Ensembl chrNW_004955404:2,260,029...2,326,074 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO DNA:splicing error RGD PMID:16431952 RGD:1600694 NCBI chrNW_004955403:9,562,401...9,703,828
Ensembl chrNW_004955403:9,562,401...9,703,828 		JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522421 NCBI chrNW_004955410:19,359,495...19,614,283
Ensembl chrNW_004955410:19,359,868...19,614,344 		JBrowse link
G Frem1 FRAS1 related extracellular matrix 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23221805 NCBI chrNW_004955434:17,754,002...17,901,416
Ensembl chrNW_004955434:17,753,925...17,901,407 		JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chrNW_004955429:17,795,757...17,858,609
Ensembl chrNW_004955429:17,794,879...17,858,609 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9207787 PMID:9207788 PMID:12022040 NCBI chrNW_004955415:20,490,414...20,526,068
Ensembl chrNW_004955415:20,490,414...20,527,917 		JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16020517 NCBI chrNW_004955415:4,017,142...4,078,927
Ensembl chrNW_004955415:3,999,473...4,060,998 		JBrowse link
G Pax6 paired box 6 ISO RGD PMID:9247338 PMID:10441571 PMID:12721955 RGD:1601210 RGD:1601211 RGD:731242 NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162 		JBrowse link
G Sh3pxd2b SH3 and PX domains 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19669234 NCBI chrNW_004955408:25,103,278...25,169,934
Ensembl chrNW_004955408:25,103,278...25,170,003 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:24973920 NCBI chrNW_004955491:8,647,133...8,657,381 JBrowse link
G Sox2 SRY-box transcription factor 2 ISO DNA:mutations: :multiple
DNA:missense mutation: :p.D123G (human)		 RGD PMID:19471311 PMID:19921648 RGD:8661660 RGD:8661661 NCBI chrNW_004955420:10,671,888...10,674,080
Ensembl chrNW_004955420:10,671,978...10,672,934 		JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19685247 NCBI chrNW_004955465:3,877,896...3,900,259
Ensembl chrNW_004955465:3,882,549...3,898,929 		JBrowse link
G Tgfb2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9217007 NCBI chrNW_004955406:174,949...249,248
Ensembl chrNW_004955406:172,814...249,248 		JBrowse link
G Tgfbr2 transforming growth factor beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16885183 NCBI chrNW_004955430:21,919,338...21,999,688
Ensembl chrNW_004955430:21,932,553...22,001,837 		JBrowse link
G Vsx1 visual system homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15051220 NCBI chrNW_004955415:31,174,155...31,180,718
Ensembl chrNW_004955415:31,175,452...31,180,655 		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 chrNW_004955420:20,911,181...20,922,992
Ensembl chrNW_004955420:20,912,348...20,914,402 		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 chrNW_004955420:21,071,111...21,078,397
Ensembl chrNW_004955420:21,069,681...21,078,298 		JBrowse link
G Colec11 collectin subfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chrNW_004955487:3,778,901...3,789,852
Ensembl chrNW_004955487:3,778,858...3,790,080 		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 chrNW_004955420:21,137,964...21,144,206
Ensembl chrNW_004955420:21,137,964...21,144,206 		JBrowse link
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1		 ClinVar PMID:28492532 PMID:29407414 NCBI chrNW_004955420:21,097,292...21,113,053 JBrowse link
G Eif4a2 eukaryotic translation initiation factor 4A2 ISO ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar Annotator: match by term: Michels syndrome		 ClinVar PMID:28492532 PMID:29407414 NCBI chrNW_004955420:20,967,848...20,974,093
Ensembl chrNW_004955420:20,968,484...20,974,018 		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 chrNW_004955420:21,041,419...21,054,043
Ensembl chrNW_004955420:21,040,621...21,054,391 		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 chrNW_004955420:21,020,938...21,033,022
Ensembl chrNW_004955420:21,019,212...21,032,976 		JBrowse link
G Kng1 kininogen 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar Annotator: match by term: Michels syndrome		 ClinVar PMID:28492532 PMID:29407414 NCBI chrNW_004955420:20,989,197...21,016,084 JBrowse link
G Masp1 MBL associated serine protease 1 ISO OMIM NCBI chrNW_004955420:20,540,266...20,605,830
Ensembl chrNW_004955420:20,540,016...20,605,854 		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 chrNW_004955420:20,948,549...20,967,845
Ensembl chrNW_004955420:20,948,549...20,967,845 		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 chrNW_004955420:20,622,226...20,625,073
Ensembl chrNW_004955420:20,620,380...20,625,103 		JBrowse link
G St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar Annotator: match by term: Michels syndrome		 ClinVar PMID:28492532 PMID:29407414 NCBI chrNW_004955420:20,708,890...20,801,167
Ensembl chrNW_004955420:20,709,301...20,801,167 		JBrowse link
G Tbccd1 TBCC domain containing 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar Annotator: match by term: Michels syndrome		 ClinVar PMID:28492532 PMID:29407414 NCBI chrNW_004955420:21,113,527...21,135,704
Ensembl chrNW_004955420:21,115,228...21,135,704 		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 chrNW_004955542:1,959,765...2,000,665
Ensembl chrNW_004955542:1,959,765...2,000,665 		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 chrNW_004955457:14,325,278...14,444,368
Ensembl chrNW_004955457:14,325,281...14,379,937 		JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004955457:13,624,590...13,938,427
Ensembl chrNW_004955457:13,624,413...14,076,261 		JBrowse link
G Ap1ar adaptor related protein complex 1 associated regulatory protein ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004955457:14,456,414...14,471,584
Ensembl chrNW_004955457:14,457,990...14,491,435 		JBrowse link
G Arsj arylsulfatase family member J ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004955428:25,373,664...25,436,251
Ensembl chrNW_004955428:25,373,664...25,437,506 		JBrowse link
G Camk2d calcium/calmodulin dependent protein kinase II delta ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004955428:25,583,501...25,880,395 JBrowse link
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004955476:9,742,909...9,780,321
Ensembl chrNW_004955476:9,743,736...9,777,164 		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 chrNW_004955476:9,850,110...10,054,313
Ensembl chrNW_004955476:9,849,365...10,054,583 		JBrowse link
G Fam241a family with sequence similarity 241 member A ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004955457:14,550,478...14,553,757 JBrowse link
G Glis3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by term: Aniridia ClinVar PMID:26893459 NCBI chrNW_004955434:8,140,965...8,581,889
Ensembl chrNW_004955434:8,145,053...8,573,537 		JBrowse link
G Gmds GDP-mannose 4,6-dehydratase ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004955465:11,133,513...11,562,562
Ensembl chrNW_004955465:11,145,837...11,563,352 		JBrowse link
G Immp1l inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004955476:9,784,838...9,850,076
Ensembl chrNW_004955476:9,784,838...9,850,091 		JBrowse link
G Kif21a kinesin family member 21A ISO ClinVar Annotator: match by term: Aniridia ClinVar PMID:26893459 NCBI chrNW_004955505:933,254...1,000,039
Ensembl chrNW_004955505:933,270...998,853 		JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004955457:14,178,674...14,200,164
Ensembl chrNW_004955457:14,178,947...14,192,193 		JBrowse link
G Neurog2 neurogenin 2 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004955457:14,268,078...14,287,050 JBrowse link
G Pax6 paired box 6 susceptibility ISO associated with Nystagmus, Congenital;DNA:insertion:exon:c.888insA(human)
ClinVar Annotator: match by term: Absent iris
ClinVar Annotator: match by term: Aniridia, atypical
ClinVar Annotator: match by term: Congenital aniridia
DNA:frameshift mutation:cds:p.P418SfsX87 (human)
DNA:deletion, snp:cds:p.R38GfsX16, p.S121L (human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon, intron:multiple (human)
DNA:deletion:cds:p.R38PfsX12 (human)
DNA:deletions:cds:c.170-174delTGGGC, c.475delC (human)
DNA:nonsense mutation:cds:p.R240X (human)
DNA:deletion:cds:p.Q297HfsX68 (human)
associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human)
DNA:snps, nonsense mutation:introns, cds:IVS5a+1G>A, IVS8-1G>A, p.Q215X (mouse)		 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 chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162 		JBrowse link
G Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chrNW_004955420:10,671,888...10,674,080
Ensembl chrNW_004955420:10,671,978...10,672,934 		JBrowse link
G Tifa TRAF interacting protein with forkhead associated domain ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004955457:14,444,811...14,460,168
Ensembl chrNW_004955457:14,444,814...14,450,767 		JBrowse link
G Trim44 tripartite motif containing 44 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955422:10,580,002...10,690,349
Ensembl chrNW_004955422:10,580,002...10,690,349 		JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955476:10,464,688...10,504,473
Ensembl chrNW_004955476:10,464,616...10,504,473 		JBrowse link
G Zgrf1 zinc finger GRF-type containing 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004955457:14,200,280...14,258,010 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 chrNW_004955476:9,742,909...9,780,321
Ensembl chrNW_004955476:9,743,736...9,777,164 		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 chrNW_004955476:9,850,110...10,054,313
Ensembl chrNW_004955476:9,849,365...10,054,583 		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 chrNW_004955476:9,784,838...9,850,076
Ensembl chrNW_004955476:9,784,838...9,850,091 		JBrowse link
G Pax6 paired box 6 ISO OMIM NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162 		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 chrNW_004955476:10,280,669...10,289,668
Ensembl chrNW_004955476:10,280,669...10,289,799 		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 chrNW_004955476:10,464,688...10,504,473
Ensembl chrNW_004955476:10,464,616...10,504,473 		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 chrNW_004955476:9,850,110...10,054,313
Ensembl chrNW_004955476:9,849,365...10,054,583 		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 chrNW_004955422:10,580,002...10,690,349
Ensembl chrNW_004955422:10,580,002...10,690,349 		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 chrNW_004955420:18,178,639...18,384,786
Ensembl chrNW_004955420:18,176,155...18,384,786 		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 chrNW_004955476:9,850,110...10,054,313
Ensembl chrNW_004955476:9,849,365...10,054,583 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia ClinVar PMID:29178648 NCBI chrNW_004955466:10,755,143...10,764,957
Ensembl chrNW_004955466:10,755,012...10,765,095 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Anophthalmia ClinVar NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162 		JBrowse link
G Rax retina and anterior neural fold homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:15789424 NCBI chrNW_004955402:43,408,933...43,414,697
Ensembl chrNW_004955402:43,410,404...43,414,306 		JBrowse link
G Sox2 SRY-box transcription factor 2 ISO DNA:nonsense mutations: :multiple
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:12612584 PMID:21532573 RGD:1599088 NCBI chrNW_004955420:10,671,888...10,674,080
Ensembl chrNW_004955420:10,671,978...10,672,934 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chrNW_004955450:3,579,081...3,602,538
Ensembl chrNW_004955450:3,580,662...3,602,600 		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 chrNW_004955416:27,128,066...27,434,826
Ensembl chrNW_004955416:27,130,559...27,434,747 		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 chrNW_004955404:2,196,193...2,327,324
Ensembl chrNW_004955404:2,260,029...2,326,074 		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 chrNW_004955444:8,336,071...8,655,041
Ensembl chrNW_004955444:8,495,530...8,655,100 		JBrowse link
G Gja8 gap junction protein alpha 8 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:32499604 NCBI chrNW_004955568:514,905...516,551
Ensembl chrNW_004955568:515,113...516,435 		JBrowse link
G LOC102009223 cytochrome P450 1B1 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 chrNW_004955441:5,803,397...5,812,131
Ensembl chrNW_004955441:5,803,032...5,812,131 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:24281366 PMID:32499604 NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162 		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 mesenchymal dysgenesis
ClinVar Annotator: match by term: Anterior segment ocular dysgenesis		 ClinVar PMID:7581385 PMID:9437321 PMID:15378534 PMID:15591271 PMID:25741868 PMID:26220699 PMID:28492532 PMID:32499604 NCBI chrNW_004955457:15,803,493...15,823,193
Ensembl chrNW_004955457:15,803,219...15,823,310 		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 chrNW_004955485:8,130,244...8,140,292
Ensembl chrNW_004955485:8,130,244...8,140,292 		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 chrNW_004955487:4,867,427...4,936,454
Ensembl chrNW_004955487:4,867,427...4,936,522 		JBrowse link
anterior segment dysgenesis 1 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: ANTERIOR SEGMENT DYSGENESIS 1 ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 NCBI chrNW_004955457:15,803,493...15,823,193
Ensembl chrNW_004955457:15,803,219...15,823,310 		JBrowse link
G Pitx3 paired like homeodomain 3 ISO OMIM NCBI chrNW_004955485:8,130,244...8,140,292
Ensembl chrNW_004955485:8,130,244...8,140,292 		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 chrNW_004955457:15,803,493...15,823,193
Ensembl chrNW_004955457:15,803,219...15,823,310 		JBrowse link
anterior segment dysgenesis 5 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: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar NCBI chrNW_004955476:9,850,110...10,054,313
Ensembl chrNW_004955476:9,849,365...10,054,583 		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 chrNW_004955434:17,754,002...17,901,416
Ensembl chrNW_004955434:17,753,925...17,901,407 		JBrowse link
G LOC102009223 cytochrome P450 1B1 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 chrNW_004955441:5,803,397...5,812,131
Ensembl chrNW_004955441:5,803,032...5,812,131 		JBrowse link
G Pax6 paired box 6 ISO OMIM NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162 		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 chrNW_004955457:15,803,493...15,823,193
Ensembl chrNW_004955457:15,803,219...15,823,310 		JBrowse link
anterior segment dysgenesis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102009223 cytochrome P450 1B1 ISO OMIM NCBI chrNW_004955441:5,803,397...5,812,131
Ensembl chrNW_004955441:5,803,032...5,812,131 		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 chrNW_004955487:4,867,427...4,936,454
Ensembl chrNW_004955487:4,867,427...4,936,522 		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 chrNW_004955402:7,544,265...7,661,191
Ensembl chrNW_004955402:7,544,265...7,649,067 		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 chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		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 chrNW_004955523:919,220...1,005,747
Ensembl chrNW_004955523:932,347...1,003,256 		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 chrNW_004955413:258,078...269,324
Ensembl chrNW_004955413:257,915...269,325 		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 chrNW_004955404:2,196,193...2,327,324
Ensembl chrNW_004955404:2,260,029...2,326,074 		JBrowse link
G Dact1 dishevelled binding antagonist of beta catenin 1 ISO ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:26893459 NCBI chrNW_004955466:12,367,760...12,374,141
Ensembl chrNW_004955466:12,367,775...12,373,036 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:26893459 NCBI chrNW_004955433:2,547,228...2,957,294
Ensembl chrNW_004955433:2,547,323...2,957,495 		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 chrNW_004955434:17,754,002...17,901,416
Ensembl chrNW_004955434:17,753,925...17,901,407 		JBrowse link
G Pitx2 paired like homeodomain 2 ISO DNA:missense mutation: :p.G137V (g.20913G>T) (human)
ClinVar Annotator: match by term: Axenfeld-Rieger Syndrome
ClinVar Annotator: match by term: Rieger syndrome
DNA:point mutation:exon:p.W86C (c.840G>T) (human)		 RGD
ClinVar		 PMID:16876867 PMID:19052653 PMID:25741868 RGD:12910558 RGD:12910560 NCBI chrNW_004955457:15,803,493...15,823,193
Ensembl chrNW_004955457:15,803,219...15,823,310 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:26893459 PMID:28492532 NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622 		JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162 		JBrowse link
G Pitx2 paired like homeodomain 2 ISO OMIM NCBI chrNW_004955457:15,803,493...15,823,193
Ensembl chrNW_004955457:15,803,219...15,823,310 		JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chrNW_004955428:19,684,721...19,881,716
Ensembl chrNW_004955428:19,714,730...19,881,917 		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 chrNW_004955407:41,886,286...41,962,846
Ensembl chrNW_004955407:41,886,286...41,962,897 		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 chrNW_004955407:42,091,211...42,131,343
Ensembl chrNW_004955407:42,091,211...42,131,343 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chrNW_004955407:42,461,837...42,479,048
Ensembl chrNW_004955407:42,461,952...42,478,261 		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 NCBI chrNW_004955407:42,575,677...42,600,967
Ensembl chrNW_004955407:42,575,170...42,600,495 		JBrowse link
G Dip2a disco interacting protein 2 homolog A ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chrNW_004955407:42,857,297...42,961,831
Ensembl chrNW_004955407:42,857,344...42,959,265 		JBrowse link
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 chrNW_004955407:41,812,808...41,834,661
Ensembl chrNW_004955407:41,812,825...41,833,020 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chrNW_004955407:42,608,249...42,617,167
Ensembl chrNW_004955407:42,607,872...42,617,166 		JBrowse link
G LOC102019471 chromosome unknown open reading frame, human C21orf58 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chrNW_004955407:42,712,152...42,728,690 JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chrNW_004955407:42,633,658...42,653,399
Ensembl chrNW_004955407:42,633,658...42,653,399 		JBrowse link
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 NCBI chrNW_004955407:42,657,422...42,706,339
Ensembl chrNW_004955407:42,657,588...42,705,315 		JBrowse link
G Pcbp3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chrNW_004955407:42,395,149...42,447,312
Ensembl chrNW_004955407:42,377,972...42,446,722 		JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chrNW_004955407:42,735,078...42,835,851
Ensembl chrNW_004955407:42,735,188...42,835,465 		JBrowse link
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 chrNW_004955457:15,803,493...15,823,193
Ensembl chrNW_004955457:15,803,219...15,823,310 		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 chrNW_004955407:41,972,833...41,984,095
Ensembl chrNW_004955407:41,972,717...41,984,095 		JBrowse link
G Prmt2 protein arginine methyltransferase 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chrNW_004955407:42,991,305...43,019,332
Ensembl chrNW_004955407:42,992,469...43,018,760 		JBrowse link
G S100b S100 calcium binding protein B ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chrNW_004955407:42,972,584...42,980,510
Ensembl chrNW_004955407:42,972,584...42,980,510 		JBrowse link
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 chrNW_004955407:42,132,216...42,154,252
Ensembl chrNW_004955407:42,132,165...42,141,992 		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 NCBI chrNW_004955407:42,621,167...42,629,350
Ensembl chrNW_004955407:42,620,679...42,629,350 		JBrowse link
G Ybey ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chrNW_004955407:42,706,407...42,710,962
Ensembl chrNW_004955407:42,706,439...42,710,962 		JBrowse link
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 chrNW_004955460:10,358,100...10,361,585
Ensembl chrNW_004955460:10,356,699...10,361,585 		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 chrNW_004955460:10,358,100...10,361,585
Ensembl chrNW_004955460:10,356,699...10,361,585 		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 chrNW_004955506:1,546,678...1,549,611
Ensembl chrNW_004955506:1,546,678...1,552,105 		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 chrNW_004955559:1,085,033...1,102,501
Ensembl chrNW_004955559:1,084,182...1,103,143 		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 chrNW_004955439:5,041,111...5,454,692
Ensembl chrNW_004955439:5,043,967...5,412,741 		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 chrNW_004955475:550,643...671,771
Ensembl chrNW_004955475:551,159...671,747 		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 chrNW_004955434:6,420,850...6,592,797
Ensembl chrNW_004955434:6,420,854...6,594,425 		JBrowse link
G Snx9 sorting nexin 9 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:24674232 NCBI chrNW_004955439:4,422,385...4,503,408
Ensembl chrNW_004955439:4,421,297...4,503,393 		JBrowse link
G Tmem242 transmembrane protein 242 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:24674232 NCBI chrNW_004955439:4,936,386...4,964,934
Ensembl chrNW_004955439:4,935,813...4,967,382 		JBrowse link
G Zdhhc14 zinc finger DHHC-type palmitoyltransferase 14 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:24674232 NCBI chrNW_004955439:4,617,654...4,893,090
Ensembl chrNW_004955439:4,618,525...4,892,247 		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 chrNW_004955501:83,965...84,476 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 chrNW_004955501:83,965...84,476 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 chrNW_004955508:6,201,989...6,231,840
Ensembl chrNW_004955508:6,201,989...6,231,845 		JBrowse link
G Foxl2 forkhead box L2 ISO OMIM NCBI chrNW_004955501:83,965...84,476 JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chrNW_004955508:6,232,514...6,246,593
Ensembl chrNW_004955508:6,232,514...6,246,633 		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 chrNW_004955437:17,002,269...17,037,750
Ensembl chrNW_004955437:17,002,190...17,040,786 		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: EHLERS-DANLOS SYNDROME, TYPE VIB
ClinVar Annotator: match by term: Brittle cornea syndrome 1		 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 chrNW_004955416:7,391,281...7,393,137
Ensembl chrNW_004955416:7,391,282...7,392,355 		JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: BRITTLE CORNEA SYNDROME 1
ClinVar Annotator: match by term: Corneal fragility keratoglobus, blue sclerae AND joint hypermobility		 ClinVar PMID:28492532 NCBI chrNW_004955428:19,684,721...19,881,716
Ensembl chrNW_004955428:19,714,730...19,881,917 		JBrowse link
G Znf469 zinc finger protein 469 ISO OMIM NCBI chrNW_004955541:2,404,549...2,438,183 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 chrNW_004955428:19,684,721...19,881,716
Ensembl chrNW_004955428:19,714,730...19,881,917 		JBrowse link
buphthalmos term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102009223 cytochrome P450 1B1 susceptibility ISO 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)
DNA:polymorphisms:multiple (human)		 OMIM
RGD		 PMID:10227395 PMID:19597567 PMID:20664688 PMID:23922489 RGD:7800657 RGD:7800670 RGD:7800680 RGD:7800689 NCBI chrNW_004955441:5,803,397...5,812,131
Ensembl chrNW_004955441:5,803,032...5,812,131 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Glaucoma, congenital ClinVar PMID:19656777 NCBI chrNW_004955523:919,220...1,005,747
Ensembl chrNW_004955523:932,347...1,003,256 		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 chrNW_004955406:12,182,115...12,194,683
Ensembl chrNW_004955406:12,182,046...12,199,669 		JBrowse link
G Rmdn2 regulator of microtubule dynamics 2 ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar NCBI chrNW_004955441:5,710,487...5,776,351 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 chrNW_004955519:596,216...919,352
Ensembl chrNW_004955519:599,682...918,762 		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 chrNW_004955543:597,796...604,163
Ensembl chrNW_004955543:597,814...603,963 		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 chrNW_004955467:1,566,494...1,645,158 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 chrNW_004955543:348,314...378,391
Ensembl chrNW_004955543:348,019...378,071 		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 chrNW_004955476:9,850,110...10,054,313
Ensembl chrNW_004955476:9,849,365...10,054,583 		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 chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162 		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 chrNW_004955439:1,277,185...1,460,296
Ensembl chrNW_004955439:1,276,760...1,474,202 		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 chrNW_004955480:8,404,239...8,514,792
Ensembl chrNW_004955480:8,400,284...8,514,736 		JBrowse link
G Rpgrip1l RPGRIP1 like ISO ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
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 chrNW_004955433:11,321,504...11,423,981
Ensembl chrNW_004955433:11,322,590...11,424,569 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by term: CEREBELLAR VERMIS HYPO/APLASIA, OLIGOPHRENIA, CONGENITAL ATAXIA, OCULAR COLOBOMA, AND HEPATIC FIBROSIS
DNA:missense mutations: :multiple		 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 chrNW_004955417:10,097,488...10,137,959
Ensembl chrNW_004955417:10,097,472...10,138,644 		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 chrNW_004955480:8,404,239...8,514,792
Ensembl chrNW_004955480:8,400,284...8,514,736 		JBrowse link
G Rpgrip1l RPGRIP1 like ISO ClinVar Annotator: match by term: COACH SYNDROME 1 ClinVar PMID:17558409 PMID:25741868 PMID:28492532 NCBI chrNW_004955433:11,321,504...11,423,981
Ensembl chrNW_004955433:11,322,590...11,424,569 		JBrowse link
G Tmem67 transmembrane protein 67 ISO OMIM NCBI chrNW_004955417:10,097,488...10,137,959
Ensembl chrNW_004955417:10,097,472...10,138,644 		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 chrNW_004955480:8,404,239...8,514,792
Ensembl chrNW_004955480:8,400,284...8,514,736 		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 chrNW_004955433:11,321,504...11,423,981
Ensembl chrNW_004955433:11,322,590...11,424,569 		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 chrNW_004955495:3,663,878...3,711,595 JBrowse link
G Lonp1 lon peptidase 1, mitochondrial ISO OMIM NCBI chrNW_004955495:3,712,173...3,729,556
Ensembl chrNW_004955495:3,712,199...3,731,301 		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 chrNW_004955506:1,307,932...1,322,011
Ensembl chrNW_004955506:1,307,932...1,324,027 		JBrowse link
G Sec24d SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955428:21,381,809...21,475,329
Ensembl chrNW_004955428:21,381,809...21,500,429 		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 chrNW_004955506:1,307,932...1,322,011
Ensembl chrNW_004955506:1,307,932...1,324,027 		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 chrNW_004955428:21,381,809...21,475,329
Ensembl chrNW_004955428:21,381,809...21,500,429 		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 chrNW_004955460:10,358,100...10,361,585
Ensembl chrNW_004955460:10,356,699...10,361,585 		JBrowse link
G Actg1 actin gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22366783 NCBI chrNW_004955506:1,546,678...1,549,611
Ensembl chrNW_004955506:1,546,678...1,552,105 		JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25004007 NCBI chrNW_004955521:4,365,075...4,396,105
Ensembl chrNW_004955521:4,364,638...4,396,129 		JBrowse link
G Bfsp1 beaded filament structural protein 1 ISO ClinVar Annotator: match by term: Ocular coloboma ClinVar PMID:24281366 PMID:28492532 NCBI chrNW_004955415:26,507,381...26,535,545
Ensembl chrNW_004955415:26,507,528...26,535,551 		JBrowse link
G Capn15 calpain 15 ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:25741868 NCBI chrNW_004955442:16,649,600...16,674,252
Ensembl chrNW_004955442:16,650,806...16,662,086 		JBrowse link
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 ISO ClinVar Annotator: match by term: Coloboma ClinVar NCBI chrNW_004955419:7,412,177...7,606,883
Ensembl chrNW_004955419:7,412,331...7,610,353 		JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar NCBI chrNW_004955412:27,004,391...27,093,968
Ensembl chrNW_004955412:27,003,919...27,065,989 		JBrowse link
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:26660953 NCBI chrNW_004955422:19,435,528...19,440,095
Ensembl chrNW_004955422:19,435,380...19,440,095 		JBrowse link
G Fzd5 frizzled class receptor 5 ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:25741868 PMID:26908622 NCBI chrNW_004955457:7,282,403...7,288,918
Ensembl chrNW_004955457:7,282,403...7,288,918 		JBrowse link
G Lamb1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18809619 NCBI chrNW_004955410:12,241,235...12,305,433
Ensembl chrNW_004955410:12,241,235...12,305,433 		JBrowse link
G LOC102009223 cytochrome P450 1B1 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 chrNW_004955441:5,803,397...5,812,131
Ensembl chrNW_004955441:5,803,032...5,812,131 		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 chrNW_004955471:5,296,292...5,298,432
Ensembl chrNW_004955471:5,297,259...5,298,338 		JBrowse link
G Pax6 paired box 6 ISO OMIM NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162 		JBrowse link
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT ClinVar PMID:29178648 NCBI chrNW_004955507:112,342...120,050
Ensembl chrNW_004955507:108,669...120,584 		JBrowse link
G Sall2 spalt like transcription factor 2 ISO OMIM NCBI chrNW_004955550:2,236,129...2,250,829
Ensembl chrNW_004955550:2,237,677...2,250,829 		JBrowse link
G Slbp stem-loop binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30695021 NCBI chrNW_004955514:954,489...968,670
Ensembl chrNW_004955514:955,296...967,327 		JBrowse link
G Slc16a12 solute carrier family 16 member 12 ISO ClinVar Annotator: match by term: Ocular coloboma ClinVar PMID:24281366 NCBI chrNW_004955425:3,474,814...3,560,138
Ensembl chrNW_004955425:3,509,142...3,560,138 		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 chrNW_004955417:10,097,488...10,137,959
Ensembl chrNW_004955417:10,097,472...10,138,644 		JBrowse link
G Wdr37 WD repeat domain 37 ISO ClinVar Annotator: match by term: Ocular coloboma ClinVar PMID:31327508 PMID:31327510 PMID:31474318 NCBI chrNW_004955421:30,097,046...30,161,762
Ensembl chrNW_004955421:30,068,306...30,161,762 		JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT ClinVar PMID:24462371 NCBI chrNW_004955412:5,423,866...5,533,728
Ensembl chrNW_004955412:5,423,855...5,534,408 		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 chrNW_004955482:4,733,720...4,754,754
Ensembl chrNW_004955482:4,731,675...4,756,632 		JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:25741868 NCBI chrNW_004955476:9,850,110...10,054,313
Ensembl chrNW_004955476:9,849,365...10,054,583 		JBrowse link
G Pax6 paired box 6 ISO OMIM NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162 		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 chrNW_004955421:17,948,117...18,157,379
Ensembl chrNW_004955421:17,947,277...18,154,090 		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 chrNW_004955475:9,671,162...9,694,926 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 chrNW_004955415:31,174,155...31,180,718
Ensembl chrNW_004955415:31,175,452...31,180,655 		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 chrNW_004955431:7,364,937...7,541,419
Ensembl chrNW_004955431:7,364,937...7,541,648 		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 chrNW_004955462:2,358,842...2,435,644
Ensembl chrNW_004955462:2,358,842...2,435,628 		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 chrNW_004955413:258,078...269,324
Ensembl chrNW_004955413:257,915...269,325 		JBrowse link
G Fbn1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectopia lentis
DNA:missense mutation:exon:p.G214S (G640G>A) (human)
DNA:missense mutation:cds:p.R240C (human)
DNA:missense mutation:exon:p.C587R (c.1759T>C) (human)
DNA:missense mutation:exon:p.C102Y (c.305G>A) (human)
DNA:missense mutation:exon:p.R62C (c.184C>T) (human)
DNA:missense mutation:exon:p.Y754C (c.2262A>G) (human)		 CTD
ClinVar
RGD		 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 chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761 		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 chrNW_004955413:258,078...269,324
Ensembl chrNW_004955413:257,915...269,325 		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 chrNW_004955444:17,116,060...17,320,966
Ensembl chrNW_004955444:17,121,559...17,318,295 		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 chrNW_004955423:612,098...738,702
Ensembl chrNW_004955423:612,098...736,035 		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 chrNW_004955414:6,094,585...6,103,910
Ensembl chrNW_004955414:6,094,585...6,098,865 		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 chrNW_004955422:17,394,371...17,475,244
Ensembl chrNW_004955422:17,394,371...17,505,763 		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 chrNW_004955414:6,202,383...6,213,521
Ensembl chrNW_004955414:6,202,383...6,213,521 		JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Familial exudative vitreoretinopathy ClinVar PMID:25250762 PMID:28041643 NCBI chrNW_004955479:2,570,937...2,636,884
Ensembl chrNW_004955479:2,570,937...2,635,857 		JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Familial exudative vitreoretinopathy ClinVar NCBI chrNW_004955422:1,373,694...1,377,688 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 chrNW_004955414:6,567,722...6,623,043
Ensembl chrNW_004955414:6,568,114...6,622,689 		JBrowse link
G Ccdc83 coiled-coil domain containing 83 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004955414:6,982,591...7,029,337
Ensembl chrNW_004955414:6,982,741...7,022,964 		JBrowse link
G Ccdc89 coiled-coil domain containing 89 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004955414:7,197,533...7,200,234
Ensembl chrNW_004955414:7,198,795...7,199,913 		JBrowse link
G Crebzf CREB/ATF bZIP transcription factor ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004955414:7,190,234...7,213,042
Ensembl chrNW_004955414:7,206,343...7,209,498 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:28575650 NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449 		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 chrNW_004955414:7,247,248...9,171,664
Ensembl chrNW_004955414:7,850,450...9,171,815 		JBrowse link
G Eed embryonic ectoderm development ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004955414:6,659,144...6,685,530
Ensembl chrNW_004955414:6,659,055...6,685,530 		JBrowse link
G Fzd4 frizzled class receptor 4 ISO OMIM NCBI chrNW_004955414:6,094,585...6,103,910
Ensembl chrNW_004955414:6,094,585...6,098,865 		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 chrNW_004955414:6,632,434...6,656,633
Ensembl chrNW_004955414:6,628,216...6,656,633 		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 chrNW_004955422:17,394,371...17,475,244
Ensembl chrNW_004955422:17,394,371...17,505,763 		JBrowse link
G Me3 malic enzyme 3 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004955414:6,335,411...6,555,494
Ensembl chrNW_004955414:6,343,476...6,557,058 		JBrowse link
G Picalm phosphatidylinositol binding clathrin assembly protein ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004955414:6,871,220...6,970,569
Ensembl chrNW_004955414:6,871,520...6,969,208 		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 chrNW_004955414:6,202,383...6,213,521
Ensembl chrNW_004955414:6,202,383...6,213,521 		JBrowse link
G Sytl2 synaptotagmin like 2 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004955414:7,104,239...7,172,791
Ensembl chrNW_004955414:7,104,268...7,174,001 		JBrowse link
G Tmem126a transmembrane protein 126A ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004955414:7,214,408...7,224,499
Ensembl chrNW_004955414:7,216,286...7,224,475 		JBrowse link
G Tmem126b transmembrane protein 126B ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004955414:7,235,864...7,245,595
Ensembl chrNW_004955414:7,234,610...7,245,519 		JBrowse link
G Tmem135 transmembrane protein 135 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004955414:5,810,639...6,016,949
Ensembl chrNW_004955414:5,810,639...6,017,591 		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 chrNW_004955422:1,373,694...1,377,688 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 chrNW_004955422:17,394,371...17,475,244
Ensembl chrNW_004955422:17,394,371...17,505,763 		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 chrNW_004955479:2,570,937...2,636,884
Ensembl chrNW_004955479:2,570,937...2,635,857 		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 chrNW_004955422:1,373,694...1,377,688 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 chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449 		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 chrNW_004955564:233,796...252,565
Ensembl chrNW_004955564:230,610...253,523 		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 chrNW_004955433:2,547,228...2,957,294
Ensembl chrNW_004955433:2,547,323...2,957,495 		JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17163535 NCBI chrNW_004955431:7,364,937...7,541,419
Ensembl chrNW_004955431:7,364,937...7,541,648 		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 chrNW_004955433:2,547,228...2,957,294
Ensembl chrNW_004955433:2,547,323...2,957,495 		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 chrNW_004955431:7,364,937...7,541,419
Ensembl chrNW_004955431:7,364,937...7,541,648 		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 chrNW_004955458:12,970,858...13,179,369
Ensembl chrNW_004955458:12,967,089...13,214,838 		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 chrNW_004955431:7,364,937...7,541,419
Ensembl chrNW_004955431:7,364,937...7,541,648 		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 chrNW_004955437:20,592,278...20,664,075
Ensembl chrNW_004955437:20,593,739...20,664,075 		JBrowse link
G Aipl1 aryl hydrocarbon receptor interacting protein like 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004955467:11,952,940...11,962,147
Ensembl chrNW_004955467:11,952,495...11,962,153 		JBrowse link
G Aspa aspartoacylase ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004955467:13,277,014...13,332,658
Ensembl chrNW_004955467:13,280,254...13,316,114 		JBrowse link
G Bclaf1 BCL2 associated transcription factor 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004955439:608,849...641,005
Ensembl chrNW_004955439:608,861...641,005 		JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004955467:8,766,322...8,769,169 JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004955409:2,621,144...2,642,298
Ensembl chrNW_004955409:2,619,718...2,641,308 		JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO OMIM NCBI chrNW_004955458:12,970,858...13,179,369
Ensembl chrNW_004955458:12,967,089...13,214,838 		JBrowse link
G Lsm10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004955452:14,354,020...14,358,867
Ensembl chrNW_004955452:14,354,026...14,358,267 		JBrowse link
G Med23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004955436:12,249,995...12,293,812
Ensembl chrNW_004955436:12,249,995...12,293,813 		JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004955439:15,515,966...15,531,618
Ensembl chrNW_004955439:15,516,090...15,531,116 		JBrowse link
G Myo18b myosin XVIIIB ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004955455:437,308...696,161
Ensembl chrNW_004955455:437,291...696,376 		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 chrNW_004955559:2,123,941...2,153,192
Ensembl chrNW_004955559:2,124,525...2,151,610 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar PMID:28492532 NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622 		JBrowse link
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004955467:13,304,314...13,325,228
Ensembl chrNW_004955467:13,306,496...13,325,300 		JBrowse link
G Tlcd3a TLC domain containing 3A ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004955481:2,283,620...2,292,100
Ensembl chrNW_004955481:2,283,620...2,291,352 		JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004955481:1,450,127...1,462,564
Ensembl chrNW_004955481:1,449,350...1,462,555 		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 chrNW_004955555:1,463,031...1,481,411
Ensembl chrNW_004955555:1,459,451...1,481,411 		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 chrNW_004955486:3,637,794...3,655,744
Ensembl chrNW_004955486:3,637,794...3,655,598 		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 chrNW_004955444:17,859,999...18,067,623
Ensembl chrNW_004955444:17,858,771...18,067,248 		JBrowse link
hydrophthalmos term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flt1 fms related receptor tyrosine kinase 1 ISO RGD PMID:22426483 RGD:8549773 NCBI chrNW_004955497:7,653,309...7,831,737
Ensembl chrNW_004955497:7,653,248...7,831,472 		JBrowse link
G Kdr kinase insert domain receptor ISO RGD PMID:22426483 RGD:8549773 NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583 		JBrowse link
G LOC102009223 cytochrome P450 1B1 ISO DNA:insertion, deletions:exons, intron:g.1209_1214insC, g.1410_1422del, g.1389-?-1422+?del (human) RGD PMID:9097971 RGD:1599716 NCBI chrNW_004955441:5,803,397...5,812,131
Ensembl chrNW_004955441:5,803,032...5,812,131 		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 chrNW_004955561:1,260,237...1,275,953
Ensembl chrNW_004955561:1,259,700...1,276,015 		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 chrNW_004955457:15,803,493...15,823,193
Ensembl chrNW_004955457:15,803,219...15,823,310 		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:missense mutation:cds:c.1687A>T c (p.I563F)(mouse)
DNA:deletion, frame shift:cds, splice junction:		 RGD PMID:23221805 PMID:23536828 RGD:11554181 RGD:11554185 NCBI chrNW_004955434:17,754,002...17,901,416
Ensembl chrNW_004955434:17,753,925...17,901,407 		JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO OMIM NCBI chrNW_004955431:7,364,937...7,541,419
Ensembl chrNW_004955431:7,364,937...7,541,648 		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 chrNW_004955523:1,192,035...1,207,949
Ensembl chrNW_004955523:1,193,686...1,210,641 		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 chrNW_004955402:43,408,933...43,414,697
Ensembl chrNW_004955402:43,410,404...43,414,306 		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 chrNW_004955417:12,152,448...12,169,173
Ensembl chrNW_004955417:12,152,448...12,169,362 		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 chrNW_004955412:20,419,754...20,421,541
Ensembl chrNW_004955412:20,415,287...20,421,541 		JBrowse link
G Mfrp membrane frizzled-related protein ISO OMIM NCBI chrNW_004955412:20,421,935...20,426,760
Ensembl chrNW_004955412:20,421,935...20,426,760 		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 chrNW_004955412:20,419,754...20,421,541
Ensembl chrNW_004955412:20,415,287...20,421,541 		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 chrNW_004955412:20,421,935...20,426,760
Ensembl chrNW_004955412:20,421,935...20,426,760 		JBrowse link
G Prss56 serine protease 56 ISO OMIM NCBI chrNW_004955453:3,440,871...3,446,090
Ensembl chrNW_004955453:3,441,109...3,446,090 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC ClinVar NCBI chrNW_004955523:1,192,035...1,207,949
Ensembl chrNW_004955523:1,193,686...1,210,641 		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 chrNW_004955413:6,493,734...6,516,315 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 chrNW_004955416:27,823,611...27,858,112
Ensembl chrNW_004955416:27,823,611...27,858,173 		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 chrNW_004955466:9,120,227...9,122,109
Ensembl chrNW_004955466:9,120,227...9,122,109 		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 chrNW_004955519:596,216...919,352
Ensembl chrNW_004955519:599,682...918,762 		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 chrNW_004955507:112,342...120,050
Ensembl chrNW_004955507:108,669...120,584 		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 chrNW_004955523:1,192,035...1,207,949
Ensembl chrNW_004955523:1,193,686...1,210,641 		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 chrNW_004955491:8,647,133...8,657,381 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 chrNW_004955413:6,493,734...6,516,315 JBrowse link
G Gdf6 growth differentiation factor 6 ISO OMIM NCBI chrNW_004955417:12,152,448...12,169,173
Ensembl chrNW_004955417:12,152,448...12,169,362 		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 chrNW_004955453:14,215,104...14,222,338
Ensembl chrNW_004955453:14,215,408...14,222,172 		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 chrNW_004955403:25,920,919...26,534,817
Ensembl chrNW_004955403:25,923,750...26,365,894 		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 chrNW_004955439:1,277,185...1,460,296
Ensembl chrNW_004955439:1,276,760...1,474,202 		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 chrNW_004955407:3,402,214...3,477,839
Ensembl chrNW_004955407:3,402,908...3,460,105 		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 chrNW_004955467:405,487...415,887
Ensembl chrNW_004955467:405,490...416,116 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Joubert syndrome 1
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-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 chrNW_004955480:8,404,239...8,514,792
Ensembl chrNW_004955480:8,400,284...8,514,736 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
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 chrNW_004955405:25,533,037...25,607,021
Ensembl chrNW_004955405:25,533,525...25,606,212 		JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:26092869 NCBI chrNW_004955426:21,867,876...21,991,889
Ensembl chrNW_004955426:21,868,017...21,983,747 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO OMIM NCBI chrNW_004955513:4,304,483...4,313,087
Ensembl chrNW_004955513:4,304,483...4,313,087 		JBrowse link
G Micall2 MICAL like 2 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar NCBI chrNW_004955460:9,085,695...9,105,236
Ensembl chrNW_004955460:9,082,795...9,105,338 		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 chrNW_004955451:4,805,542...4,818,233
Ensembl chrNW_004955451:4,804,838...4,821,556 		JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:24746959 PMID:25741868 PMID:28492532 NCBI chrNW_004955470:3,261,455...3,305,989
Ensembl chrNW_004955470:3,260,557...3,307,797 		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 chrNW_004955519:4,433,747...4,470,842
Ensembl chrNW_004955519:4,433,855...4,471,070 		JBrowse link
G Rpgrip1l RPGRIP1 like ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Agenesis of cerebellar vermis		 ClinVar PMID:17558409 PMID:19430481 PMID:25741868 PMID:28492532 NCBI chrNW_004955433:11,321,504...11,423,981
Ensembl chrNW_004955433:11,322,590...11,424,569 		JBrowse link
G Tctn1 tectonic family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21725307 NCBI chrNW_004955482:7,504,554...7,533,605
Ensembl chrNW_004955482:7,504,532...7,528,542 		JBrowse link
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Familial aplasia of the 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 chrNW_004955511:6,164,143...6,167,887
Ensembl chrNW_004955511:6,164,143...6,167,887 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955403:148,181...173,350
Ensembl chrNW_004955403:148,183...172,386 		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: Familial aplasia of the vermis
ClinVar Annotator: match by term: Agenesis of cerebellar 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 chrNW_004955417:10,097,488...10,137,959
Ensembl chrNW_004955417:10,097,472...10,138,644 		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 chrNW_004955449:8,242,327...8,306,012
Ensembl chrNW_004955449:8,241,990...8,308,562 		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 chrNW_004955511:6,164,143...6,167,887
Ensembl chrNW_004955511:6,164,143...6,167,887 		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 chrNW_004955561:326,008...335,911
Ensembl chrNW_004955561:325,944...335,914 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A no_association ISO DNA:mutations: :multiple OMIM
RGD		 PMID:22241855 RGD:11062645 NCBI chrNW_004955480:8,404,239...8,514,792
Ensembl chrNW_004955480:8,400,284...8,514,736 		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 chrNW_004955479:11,025,320...11,071,256
Ensembl chrNW_004955479:11,025,320...11,070,964 		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 chrNW_004955423:23,184,326...23,208,206
Ensembl chrNW_004955423:23,183,937...23,208,282 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chrNW_004955450:9,005,332...9,070,790 JBrowse link
Kahrizi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srd5a3 steroid 5 alpha-reductase 3 ISO OMIM NCBI chrNW_004955447:15,578,661...15,588,218 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 chrNW_004955515:313,612...554,751
Ensembl chrNW_004955515:313,604...553,774 		JBrowse link
G Ube3b ubiquitin protein ligase E3B ISO OMIM NCBI chrNW_004955455:8,982,293...9,032,609
Ensembl chrNW_004955455:8,979,448...9,033,111 		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 LOC102006165 cytochrome c-type heme lyase ISO OMIM NCBI chrNW_004955544:2,105,486...2,117,830
Ensembl chrNW_004955544:2,103,815...2,117,838 		JBrowse link
G LOC102020494 cytochrome c oxidase subunit 7B, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955557:1,341,934...1,348,610
Ensembl chrNW_004955557:1,341,934...1,348,610 		JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO 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 chrNW_004955516:934,740...937,207
Ensembl chrNW_004955516:934,740...937,207 		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 chrNW_004955402:1,534,619...1,873,143
Ensembl chrNW_004955402:1,650,726...1,871,876 		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 chrNW_004955434:17,754,002...17,901,416
Ensembl chrNW_004955434:17,753,925...17,901,407 		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 chrNW_004955425:764,382...804,856
Ensembl chrNW_004955425:763,868...804,583 		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 chrNW_004955522:530,752...666,752
Ensembl chrNW_004955522:532,534...666,523 		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 chrNW_004955407:36,456,628...36,588,940
Ensembl chrNW_004955407:36,453,098...36,589,382 		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 chrNW_004955476:9,850,110...10,054,313
Ensembl chrNW_004955476:9,849,365...10,054,583 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10739753 NCBI chrNW_004955556:745,175...812,215
Ensembl chrNW_004955556:748,231...813,133 		JBrowse link
G Fancd2 FA complementation group D2 ISO RGD PMID:12893777 RGD:11344906 NCBI chrNW_004955561:1,460,080...1,538,026
Ensembl chrNW_004955561:1,464,869...1,538,045 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: therapeutic CTD PMID:32472575 NCBI chrNW_004955485:8,517,412...8,521,732
Ensembl chrNW_004955485:8,517,412...8,521,770 		JBrowse link
G Gja8 gap junction protein alpha 8 ISO DNA:missense mutation:cds:p.L7Q(rat) RGD PMID:18470322 RGD:2293186 NCBI chrNW_004955568:514,905...516,551
Ensembl chrNW_004955568:515,113...516,435 		JBrowse link
G Hmx1 H6 family homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19379485 NCBI chrNW_004955514:2,441,234...2,442,478 JBrowse link
G LOC102006165 cytochrome c-type heme lyase ISO microphthalmia with linear skin defects, OMIM:309801, DNA:point mutations:exon:R197X, R217C RGD PMID:17033964 RGD:1600417 NCBI chrNW_004955544:2,105,486...2,117,830
Ensembl chrNW_004955544:2,103,815...2,117,838 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO DNA:mutation:splice junction: RGD PMID:28111184 RGD:12793059 NCBI chrNW_004955422:17,394,371...17,475,244
Ensembl chrNW_004955422:17,394,371...17,505,763 		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 chrNW_004955412:20,421,935...20,426,760
Ensembl chrNW_004955412:20,421,935...20,426,760 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Anophthalmia/Microphthalmia ClinVar PMID:26893459 PMID:28492532 NCBI chrNW_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259 		JBrowse link
G 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 chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162 		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 chrNW_004955485:8,130,244...8,140,292
Ensembl chrNW_004955485:8,130,244...8,140,292 		JBrowse link
G Prss56 serine protease 56 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532570 NCBI chrNW_004955453:3,440,871...3,446,090
Ensembl chrNW_004955453:3,441,109...3,446,090 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:31690747 PMID:32472575 NCBI chrNW_004955491:8,647,133...8,657,381 JBrowse link
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955466:9,120,227...9,122,109
Ensembl chrNW_004955466:9,120,227...9,122,109 		JBrowse link
G Stau2 staufen double-stranded RNA binding protein 2 ISO RGD PMID:22940085 RGD:10043154 NCBI chrNW_004955444:6,538,310...6,777,132
Ensembl chrNW_004955444:6,538,310...6,778,708 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18316031 NCBI chrNW_004955450:3,579,081...3,602,538
Ensembl chrNW_004955450:3,580,662...3,602,600 		JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Nanophthalmos ClinVar PMID:25741868 NCBI chrNW_004955465:3,877,896...3,900,259
Ensembl chrNW_004955465:3,882,549...3,898,929 		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 chrNW_004955523:1,192,035...1,207,949
Ensembl chrNW_004955523:1,193,686...1,210,641 		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 chrNW_004955402:35,956,080...36,001,746
Ensembl chrNW_004955402:35,961,165...35,994,538 		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 chrNW_004955523:1,192,035...1,207,949
Ensembl chrNW_004955523:1,193,686...1,210,641 		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 chrNW_004955523:919,220...1,005,747
Ensembl chrNW_004955523:932,347...1,003,256 		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 chrNW_004955523:919,220...1,005,747
Ensembl chrNW_004955523:932,347...1,003,256 		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 chrNW_004955412:20,419,754...20,421,541
Ensembl chrNW_004955412:20,415,287...20,421,541 		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 chrNW_004955412:20,421,935...20,426,760
Ensembl chrNW_004955412:20,421,935...20,426,760 		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 chrNW_004955453:3,440,871...3,446,090
Ensembl chrNW_004955453:3,441,109...3,446,090 		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 chrNW_004955511:5,927,103...5,949,289
Ensembl chrNW_004955511:5,927,698...5,942,242 		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 chrNW_004955412:20,419,754...20,421,541
Ensembl chrNW_004955412:20,415,287...20,421,541 		JBrowse link
G Mfrp membrane frizzled-related protein ISO OMIM NCBI chrNW_004955412:20,421,935...20,426,760
Ensembl chrNW_004955412:20,421,935...20,426,760 		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 chrNW_004955481:7,788,066...7,797,433
Ensembl chrNW_004955481:7,785,967...7,798,575 		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 chrNW_004955457:8,660,448...8,688,116 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 chrNW_004955532:1,115,412...1,127,264
Ensembl chrNW_004955532:1,115,087...1,127,455 		JBrowse link
G Serpina10 serpin family A member 10 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities ClinVar PMID:15461625 PMID:18710385 PMID:22039093 PMID:23352160 PMID:25741868 NCBI chrNW_004955438:16,335,201...16,345,093
Ensembl chrNW_004955438:16,335,544...16,345,094 		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 chrNW_004955486:4,303,573...4,695,800
Ensembl chrNW_004955486:4,443,723...4,695,800 		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 chrNW_004955455:7,739,105...7,879,489 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 chrNW_004955422:16,026,323...16,035,808
Ensembl chrNW_004955422:16,031,280...16,036,281 		JBrowse link
G Hmx1 H6 family homeobox 1 ISO OMIM NCBI chrNW_004955514:2,441,234...2,442,478 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 chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095 		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 chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095 		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 chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053 		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 chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053 		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 chrNW_004955466:9,120,227...9,122,109
Ensembl chrNW_004955466:9,120,227...9,122,109 		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 chrNW_004955516:4,218,703...4,244,774
Ensembl chrNW_004955516:4,218,703...4,244,846 		JBrowse link
G Pax6 paired box 6 ISO DNA:snp:cds:pN64K (mouse) RGD PMID:19345209 RGD:8551891 NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162 		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 chrNW_004955425:20,559,466...20,560,275 JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive ClinVar PMID:25250762 NCBI chrNW_004955479:2,570,937...2,636,884
Ensembl chrNW_004955479:2,570,937...2,635,857 		JBrowse link
Peters anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dab1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chrNW_004955464:2,325,529...2,721,497
Ensembl chrNW_004955464:2,455,346...2,724,358 		JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar NCBI chrNW_004955476:9,850,110...10,054,313
Ensembl chrNW_004955476:9,849,365...10,054,583 		JBrowse link
G Ephb2 EPH receptor B2 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chrNW_004955452:2,844,713...2,986,790
Ensembl chrNW_004955452:2,844,713...2,980,445 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chrNW_004955403:22,502,625...22,618,513
Ensembl chrNW_004955403:22,502,625...22,619,211 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chrNW_004955428:15,621,333...15,812,167
Ensembl chrNW_004955428:15,622,498...15,810,896 		JBrowse link
G Frem1 FRAS1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:21931569 PMID:26893459 NCBI chrNW_004955434:17,754,002...17,901,416
Ensembl chrNW_004955434:17,753,925...17,901,407 		JBrowse link
G LOC102009223 cytochrome P450 1B1 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 chrNW_004955441:5,803,397...5,812,131
Ensembl chrNW_004955441:5,803,032...5,812,131 		JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar Annotator: match by term: Peters anomaly
DNA:snp:cds:pN64K (mouse)		 CTD
ClinVar
RGD		 PMID:19345209 PMID:24281366 PMID:25741868 PMID:28492532 PMID:32499604 RGD:8551891 NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162 		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 chrNW_004955421:28,010,756...28,041,336
Ensembl chrNW_004955421:28,008,733...28,042,116 		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 chrNW_004955457:15,803,493...15,823,193
Ensembl chrNW_004955457:15,803,219...15,823,310 		JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chrNW_004955481:1,499,634...1,530,670
Ensembl chrNW_004955481:1,499,634...1,530,670 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:1347096 PMID:26893459 PMID:28492532 NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622 		JBrowse link
G Rarg retinoic acid receptor gamma ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chrNW_004955458:480,257...501,172
Ensembl chrNW_004955458:480,070...501,356 		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 chrNW_004955441:5,710,487...5,776,351 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 chrNW_004955431:14,507,184...14,621,376
Ensembl chrNW_004955431:14,507,184...14,633,351 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Peters plus syndrome ClinVar PMID:25741868 PMID:29584859 NCBI chrNW_004955485:8,517,412...8,521,732
Ensembl chrNW_004955485:8,517,412...8,521,770 		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 chrNW_004955494:2,567,238...2,712,708 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 chrNW_004955532:1,115,412...1,127,264
Ensembl chrNW_004955532:1,115,087...1,127,455 		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 chrNW_004955489:2,404,773...2,434,729
Ensembl chrNW_004955489:2,415,925...2,437,837 		JBrowse link
G Ripk4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Popliteal pterygium syndrome ClinVar NCBI chrNW_004955407:39,728,645...39,748,752
Ensembl chrNW_004955407:39,728,634...39,748,791 		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 chrNW_004955407:39,728,645...39,748,752
Ensembl chrNW_004955407:39,728,634...39,748,791 		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 chrNW_004955485:9,351,913...9,430,607
Ensembl chrNW_004955485:9,350,087...9,430,607 		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 chrNW_004955406:33,817,754...34,005,937
Ensembl chrNW_004955406:33,817,605...34,005,943 		JBrowse link
G Slbp stem-loop binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30695021 NCBI chrNW_004955514:954,489...968,670
Ensembl chrNW_004955514:955,296...967,327 		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 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 chrNW_004955434:2,017,809...2,543,827
Ensembl chrNW_004955434:1,725,692...2,542,077 		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 chrNW_004955507:112,342...120,050
Ensembl chrNW_004955507:108,669...120,584 		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 chrNW_004955406:3,225,788...3,273,037
Ensembl chrNW_004955406:3,223,993...3,273,714 		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 chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant ClinVar PMID:28492532 NCBI chrNW_004955466:10,755,143...10,764,957
Ensembl chrNW_004955466:10,755,012...10,765,095 		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 DNA:missense mutation:exon:254C>T (p.P85L) (human)
ClinVar Annotator: match by term: Lenz microphthalmia syndrome
CTD Direct Evidence: marker/mechanism		 RGD
ClinVar
CTD		 PMID:15004558 PMID:25741868 PMID:28492532 RGD:1600504 NCBI chrNW_004955566:1,412,540...1,510,339
Ensembl chrNW_004955566:1,412,540...1,457,329 		JBrowse link
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO OMIM NCBI chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608 		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 chrNW_004955431:21,853,636...21,857,547
Ensembl chrNW_004955431:21,853,636...21,857,547 		JBrowse link
syndromic microphthalmia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rarb retinoic acid receptor beta ISO OMIM NCBI chrNW_004955430:17,067,536...17,457,558
Ensembl chrNW_004955430:17,295,174...17,460,045 		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 chrNW_004955498:6,633,540...6,640,393 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 chrNW_004955471:5,052,535...5,649,696
Ensembl chrNW_004955471:5,053,487...5,649,476 		JBrowse link
G Mab21l2 mab-21 like 2 ISO OMIM NCBI chrNW_004955471:5,296,292...5,298,432
Ensembl chrNW_004955471:5,297,259...5,298,338 		JBrowse link
syndromic microphthalmia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcor BCL6 corepressor ISO OMIM NCBI chrNW_004955566:1,412,540...1,510,339
Ensembl chrNW_004955566:1,412,540...1,457,329 		JBrowse link
syndromic microphthalmia 3 term browser
Symbol Object Name 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 chrNW_004955466:9,120,227...9,122,109
Ensembl chrNW_004955466:9,120,227...9,122,109 		JBrowse link
G Sox2 SRY-box transcription factor 2 ISO OMIM NCBI chrNW_004955420:10,671,888...10,674,080
Ensembl chrNW_004955420:10,671,978...10,672,934 		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 chrNW_004955487:5,180,241...5,218,298
Ensembl chrNW_004955487:5,180,252...5,218,216 		JBrowse link
G Arr3 arrestin 3 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955475:9,819,783...9,835,526
Ensembl chrNW_004955475:9,819,792...9,835,200 		JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:21106365 PMID:24326041 PMID:24755471 PMID:25231023 PMID:25741868 PMID:25980754 PMID:26182300 PMID:26467025 PMID:26893459 PMID:27582386 PMID:27621404 PMID:28492532 PMID:29577179 PMID:30311375 NCBI chrNW_004955484:7,782,409...7,861,082
Ensembl chrNW_004955484:7,782,772...7,860,967 		JBrowse link
G Cep83 centrosomal protein 83 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955405:31,024,524...31,165,824
Ensembl chrNW_004955405:31,024,522...31,165,824 		JBrowse link
G Chrd chordin ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955420:23,111,690...23,120,038
Ensembl chrNW_004955420:23,112,093...23,120,036 		JBrowse link
G Dicer1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chrNW_004955438:17,374,899...17,431,599
Ensembl chrNW_004955438:17,382,493...17,431,797 		JBrowse link
G Efhd1 EF-hand domain family member D1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955453:3,344,919...3,378,157 JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar NCBI chrNW_004955476:9,850,110...10,054,313
Ensembl chrNW_004955476:9,849,365...10,054,583 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955428:15,621,333...15,812,167
Ensembl chrNW_004955428:15,622,498...15,810,896 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26467025 PMID:26893459 NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:24700879 PMID:25353622 PMID:26893459 NCBI chrNW_004955433:2,547,228...2,957,294
Ensembl chrNW_004955433:2,547,323...2,957,495 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chrNW_004955459:8,892,917...9,124,672
Ensembl chrNW_004955459:8,892,869...9,118,499 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955469:9,418,599...9,455,026
Ensembl chrNW_004955469:9,418,609...9,455,026 		JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955469:9,416,732...9,418,523
Ensembl chrNW_004955469:9,416,732...9,418,523 		JBrowse link
G Map3k1 mitogen-activated protein kinase kinase kinase 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955446:11,022,091...11,090,136
Ensembl chrNW_004955446:11,021,971...11,090,136 		JBrowse link
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955421:17,948,117...18,157,379
Ensembl chrNW_004955421:17,947,277...18,154,090 		JBrowse link
G Myo1c myosin IC ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955481:1,676,788...1,701,421
Ensembl chrNW_004955481:1,676,728...1,703,488 		JBrowse link
G Ndst2 N-deacetylase and N-sulfotransferase 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955437:18,090,198...18,099,328 JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chrNW_004955513:4,225,939...4,264,875
Ensembl chrNW_004955513:4,225,956...4,263,259 		JBrowse link
G Notch4 notch receptor 4 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chrNW_004955437:658,076...679,338 JBrowse link
G Nr5a2 nuclear receptor subfamily 5 group A member 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955406:36,263,257...36,415,494
Ensembl chrNW_004955406:36,263,184...36,415,525 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO OMIM NCBI chrNW_004955466:10,755,143...10,764,957
Ensembl chrNW_004955466:10,755,012...10,765,095 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:9727514 PMID:12868034 PMID:15086958 PMID:16407227 PMID:17417613 PMID:18776953 PMID:25741868 PMID:26893459 PMID:28492532 NCBI chrNW_004955476:10,058,979...10,074,668
Ensembl chrNW_004955476:10,058,961...10,074,162 		JBrowse link
G Pfkp phosphofructokinase, platelet ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955421:28,042,973...28,098,358
Ensembl chrNW_004955421:28,043,271...28,086,796 		JBrowse link
G Plxnc1 plexin C1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955405:30,885,277...31,023,947
Ensembl chrNW_004955405:30,885,278...31,021,544 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:16231297 PMID:23334667 PMID:24728327 PMID:25567908 PMID:26802149 PMID:26893459 PMID:28492532 NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622 		JBrowse link
G Rax retina and anterior neural fold homeobox ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar NCBI chrNW_004955402:43,408,933...43,414,697
Ensembl chrNW_004955402:43,410,404...43,414,306 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chrNW_004955550:2,015,319...2,073,627
Ensembl chrNW_004955550:2,021,838...2,073,498 		JBrowse link
G Sall3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955402:62,157,988...62,163,977
Ensembl chrNW_004955402:62,157,970...62,163,057 		JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955493:7,059,865...7,080,524
Ensembl chrNW_004955493:7,059,865...7,081,038 		JBrowse link
G Sfrp2 secreted frizzled related protein 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955471:8,103,937...8,112,596
Ensembl chrNW_004955471:8,103,783...8,112,321 		JBrowse link
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:24875647 PMID:25741868 PMID:28492532 NCBI chrNW_004955466:9,120,227...9,122,109
Ensembl chrNW_004955466:9,120,227...9,122,109 		JBrowse link
G Sox14 SRY-box transcription factor 14 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955501:1,155,920...1,157,870
Ensembl chrNW_004955501:1,156,670...1,157,392 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955450:3,579,081...3,602,538
Ensembl chrNW_004955450:3,580,662...3,602,600 		JBrowse link
G Sulf1 sulfatase 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955444:9,902,334...10,066,929
Ensembl chrNW_004955444:9,899,941...9,974,666 		JBrowse link
G Tamalin trafficking regulator and scaffold protein tamalin ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955547:2,377,612...2,385,918
Ensembl chrNW_004955547:2,377,702...2,385,277 		JBrowse link
G Tshz2 teashirt zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955445:5,571,587...5,830,728
Ensembl chrNW_004955445:5,384,946...5,829,954 		JBrowse link
G Vax2 ventral anterior homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955424:14,283,336...14,309,809
Ensembl chrNW_004955424:14,283,327...14,309,809 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:24033328 PMID:26893459 NCBI chrNW_004955523:1,192,035...1,207,949
Ensembl chrNW_004955523:1,193,686...1,210,641 		JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004955429:12,647,993...12,693,998
Ensembl chrNW_004955429:12,647,993...12,694,895 		JBrowse link
G Wnt7b Wnt family member 7B ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 NCBI chrNW_004955413:30,146,185...30,185,693
Ensembl chrNW_004955413:30,144,869...30,181,791 		JBrowse link
syndromic microphthalmia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO OMIM NCBI chrNW_004955409:9,432,835...9,439,680
Ensembl chrNW_004955409:9,432,841...9,440,303 		JBrowse link
syndromic microphthalmia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snx3 sorting nexin 3 ISO OMIM NCBI chrNW_004955411:33,339,974...33,344,563
Ensembl chrNW_004955411:33,340,274...33,345,500 		JBrowse link
syndromic microphthalmia 9 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 ClinVar Annotator: match by term: Isolated anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 PMID:28590501 NCBI chrNW_004955416:27,823,611...27,858,112
Ensembl chrNW_004955416:27,823,611...27,858,173 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO OMIM NCBI chrNW_004955450:3,579,081...3,602,538
Ensembl chrNW_004955450:3,580,662...3,602,600 		JBrowse link
G Wnt7b Wnt family member 7B ISO ClinVar Annotator: match by term: Microphthalmia syndromic 9 ClinVar PMID:25741868 NCBI chrNW_004955413:30,146,185...30,185,693
Ensembl chrNW_004955413:30,144,869...30,181,791 		JBrowse link
Temtamy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsm4 acyl-CoA synthetase medium chain family member 4 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004955493:6,023...31,418
Ensembl chrNW_004955493:6,023...31,418 		JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004955413:6,471,933...6,480,475
Ensembl chrNW_004955413:6,471,953...6,480,469 		JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004955413:4,511,251...4,524,037
Ensembl chrNW_004955413:4,516,532...4,522,831 		JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004955413:4,652,156...4,660,897
Ensembl chrNW_004955413:4,652,308...4,660,304 		JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004955413:4,663,643...4,670,454
Ensembl chrNW_004955413:4,662,303...4,670,638 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004955413:4,620,450...4,630,860
Ensembl chrNW_004955413:4,620,450...4,630,860 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004955413:6,707,003...6,715,689
Ensembl chrNW_004955413:6,707,689...6,715,689 		JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004955413:4,448,711...4,450,917
Ensembl chrNW_004955413:4,448,917...4,450,553 		JBrowse link
G Clec4d C-type lectin domain family 4 member D ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004955413:5,267,548...5,276,969
Ensembl chrNW_004955413:5,267,161...5,277,090 		JBrowse link
G Clec4e C-type lectin domain family 4 member E ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004955413:5,256,523...5,261,385
Ensembl chrNW_004955413:5,256,440...5,262,938 		JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004955413:4,690,637...4,719,929
Ensembl chrNW_004955413:4,690,637...4,719,929 		JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004955413:4,563,864...4,570,809
Ensembl chrNW_004955413:4,563,864...4,570,809 		JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004955413:4,498,625...4,506,769
Ensembl chrNW_004955413:4,498,625...4,506,769 		JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532