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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_004936492:14,818,561...14,902,231 JBrowse link
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:16938888 NCBI chrNW_004936531:6,899,580...7,019,016 JBrowse link
G Bmpr1a bone morphogenetic protein receptor type 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15804571 NCBI chrNW_004936804:52,435...115,289 JBrowse link
G Bmpr1b bone morphogenetic protein receptor type 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15804571 NCBI chrNW_004936687:2,346,601...2,595,283 JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20385946 NCBI chrNW_004936472:2,416,043...2,543,561 JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO DNA:splicing error RGD PMID:16431952 RGD:1600694 NCBI chrNW_004936506:8,739,475...8,873,073 JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522421 NCBI chrNW_004936546:2,658,195...2,945,542 JBrowse link
G Frem1 FRAS1 related extracellular matrix 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23221805 NCBI chrNW_004936539:8,338,624...8,508,031 JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chrNW_004936602:908,034...956,634 JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9207787 PMID:9207788 PMID:12022040 NCBI chrNW_004936485:8,857,688...8,894,270 JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16020517 NCBI chrNW_004936504:4,413,549...4,495,933 JBrowse link
G Pax6 paired box 6 ISO RGD PMID:9247338 PMID:10441571 PMID:12721955 RGD:1601210 RGD:1601211 RGD:731242 NCBI chrNW_004936533:5,952,529...5,980,889 JBrowse link
G Sh3pxd2b SH3 and PX domains 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19669234 NCBI chrNW_004936609:2,934,814...2,975,111 JBrowse link
G Shh sonic hedgehog signaling molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:24973920 NCBI chrNW_004936527:10,033,095...10,042,713 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_004936566:1,630,698...1,632,607 JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19685247 NCBI chrNW_004936534:2,481,804...2,518,573 JBrowse link
G Tgfb2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9217007 NCBI chrNW_004936628:310,720...394,002 JBrowse link
G Tgfbr2 transforming growth factor beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16885183 NCBI chrNW_004936473:21,324,669...21,409,430 JBrowse link
G Vsx1 visual system homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15051220 NCBI chrNW_004936620:710,917...718,205 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: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chrNW_004936578:3,168,599...3,179,369 JBrowse link
G Ahsg alpha 2-HS glycoprotein ISO ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar Annotator: match by term: Michels syndrome
ClinVar PMID:28492532 PMID:29407414 NCBI chrNW_004936578:3,332,934...3,339,903 JBrowse link
G Colec11 collectin subfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chrNW_004936532:1,757,288...1,776,053 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_004936578:3,404,552...3,410,604 JBrowse link
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 ISO ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar Annotator: match by term: Michels syndrome
ClinVar PMID:28492532 PMID:29407414 NCBI chrNW_004936578:3,360,259...3,374,634 JBrowse link
G Eif4a2 eukaryotic translation initiation factor 4A2 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chrNW_004936578:3,219,842...3,225,261 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_004936578:3,302,005...3,310,536 JBrowse link
G Hrg histidine rich glycoprotein ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chrNW_004936578:3,285,986...3,295,876 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_004936578:3,255,335...3,281,296 JBrowse link
G Masp1 MBL associated serine protease 1 ISO OMIM NCBI chrNW_004936578:2,804,460...2,857,731 JBrowse link
G Rfc4 replication factor C subunit 4 ISO ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar Annotator: match by term: Michels syndrome
ClinVar PMID:28492532 PMID:29407414 NCBI chrNW_004936578:3,204,035...3,219,806 JBrowse link
G Rtp1 receptor transporter protein 1 ISO ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar Annotator: match by term: Michels syndrome
ClinVar PMID:28492532 PMID:29407414 NCBI chrNW_004936578:2,886,994...2,889,557 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_004936578:2,966,690...3,107,237 JBrowse link
G Tbccd1 TBCC domain containing 1 ISO ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chrNW_004936578:3,374,826...3,404,462 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_004936745:2,067,272...2,067,948 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_004936563:3,233,913...3,296,671 JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936563:3,520,195...4,170,716 JBrowse link
G Ap1ar adaptor related protein complex 1 associated regulatory protein ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936563:3,108,242...3,144,957 JBrowse link
G Arsj arylsulfatase family member J ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936563:4,653,070...4,728,820 JBrowse link
G Camk2d calcium/calmodulin dependent protein kinase II delta ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936563:4,226,412...4,526,139 JBrowse link
G Dcdc1 doublecortin domain containing 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936533:6,340,591...6,434,334 JBrowse link
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936533:6,289,490...6,340,506 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_004936533:5,985,873...6,216,124 JBrowse link
G Fam241a family with sequence similarity 241 member A ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936563:3,011,476...3,048,477 JBrowse link
G Glis3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by term: Aniridia ClinVar PMID:26893459 NCBI chrNW_004936503:989,817...1,283,781 JBrowse link
G Gmds GDP-mannose 4,6-dehydratase ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936633:2,752,677...3,367,408 JBrowse link
G Immp1l inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936533:6,216,254...6,289,554 JBrowse link
G Kif21a kinesin family member 21A ISO ClinVar Annotator: match by term: Aniridia ClinVar PMID:26893459 NCBI chrNW_004936607:1,422,801...1,567,442 JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936563:3,455,205...3,474,955 JBrowse link
G Neurog2 neurogenin 2 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936563:3,348,052...3,350,623 JBrowse link
G Pax6 paired box 6 susceptibility ISO DNA:mutations:exon, intron:multiple (human)
ClinVar Annotator: match by term: Absent iris
ClinVar Annotator: match by term: Aniridia
ClinVar Annotator: match by term: Congenital aniridia
ClinVar Annotator: match by term: Aniridia, atypical
associated with Nystagmus, Congenital;DNA:insertion:exon:c.888insA(human)
DNA:deletion, snp:cds:p.R38GfsX16, p.S121L (human)
DNA:deletions:cds:c.170-174delTGGGC, c.475delC (human)
DNA:deletion:cds:p.Q297HfsX68 (human)
associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human)
DNA:nonsense mutation:cds:p.R240X (human)
DNA:frameshift mutation:cds:p.P418SfsX87 (human)
DNA:snps, nonsense mutation:introns, cds:IVS5a+1G>A, IVS8-1G>A, p.Q215X (mouse)
DNA:deletion:cds:p.R38PfsX12 (human)
CTD Direct Evidence: marker/mechanism
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_004936533:5,952,529...5,980,889 JBrowse link
G Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chrNW_004936566:1,630,698...1,632,607 JBrowse link
G Tifa TRAF interacting protein with forkhead associated domain ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936563:3,151,515...3,159,071 JBrowse link
G Trim44 tripartite motif containing 44 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936533:2,440,241...2,548,831 JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936533:5,411,949...5,459,693 JBrowse link
G Zgrf1 zinc finger GRF-type containing 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936563:3,372,603...3,455,123 JBrowse link
Aniridia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc1 doublecortin domain containing 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_004936533:6,340,591...6,434,334 JBrowse link
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_004936533:6,289,490...6,340,506 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_004936533:5,985,873...6,216,124 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_004936533:6,216,254...6,289,554 JBrowse link
G Pax6 paired box 6 ISO OMIM NCBI chrNW_004936533:5,952,529...5,980,889 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_004936533:5,685,053...5,693,518 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_004936533:5,411,949...5,459,693 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_004936533:5,985,873...6,216,124 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_004936533:2,440,241...2,548,831 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_004936578:492,267...705,282 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_004936533:5,985,873...6,216,124 JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia ClinVar PMID:29178648 NCBI chrNW_004936495:1,433,124...1,449,409 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Anophthalmia ClinVar NCBI chrNW_004936533:5,952,529...5,980,889 JBrowse link
G Rax retina and anterior neural fold homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:15789424 NCBI chrNW_004936497:5,451,055...5,457,334 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_004936566:1,630,698...1,632,607 JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chrNW_004936471:33,224,174...33,245,076 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_004936483:3,388,269...3,735,169 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_004936472:2,416,043...2,543,561 JBrowse link
G Cpamd8 C3 and PZP like alpha-2-macroglobulin domain containing 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anterior segment dysgenesis
CTD
ClinVar
PMID:27839872 PMID:32499604 NCBI chrNW_004936596:3,756,446...3,819,840 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_004936648:395,526...546,705 JBrowse link
G Foxe3 forkhead box E3 ISO DNA:insertion:cds:c.943_944insG (human)
ClinVar Annotator: match by term: Anterior segment dysgenesis
RGD
ClinVar
PMID:11159941 PMID:16826526 PMID:20361012 PMID:32499604 RGD:1598957 NCBI chrNW_004936474:28,211,144...28,212,963 JBrowse link
G Gja8 gap junction protein alpha 8 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:32499604 NCBI chrNW_004936867:374,638...378,080 JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor type 1 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:25741868 PMID:27108798 PMID:32499604 NCBI chrNW_004936577:3,896,455...4,198,396 JBrowse link
G LOC101970101 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_004936663:345,021...355,188 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:24281366 PMID:32499604 NCBI chrNW_004936533:5,952,529...5,980,889 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_004936563:1,713,294...1,732,431 JBrowse link
G Pitx3 paired like homeodomain 3 ISO CTD Direct Evidence: marker/mechanism
DNA:insertion:exon:c.657ins17bp
CTD
RGD
PMID:9620774 PMID:18989383 RGD:11535067 NCBI chrNW_004936600:3,607,883...3,619,538 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_004936532:462,507...543,549 JBrowse link
anterior segment dysgenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxe3 forkhead box E3 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 1 ClinVar PMID:17893665 PMID:27218149 PMID:28492532 NCBI chrNW_004936474:28,211,144...28,212,963 JBrowse link
G Pitx2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1 ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 NCBI chrNW_004936563:1,713,294...1,732,431 JBrowse link
G Pitx3 paired like homeodomain 3 ISO OMIM NCBI chrNW_004936600:3,607,883...3,619,538 JBrowse link
anterior segment dysgenesis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxe3 forkhead box E3 ISO OMIM NCBI chrNW_004936474:28,211,144...28,212,963 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_004936563:1,713,294...1,732,431 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_004936533:5,985,873...6,216,124 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_004936539:8,338,624...8,508,031 JBrowse link
G LOC101970101 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_004936663:345,021...355,188 JBrowse link
G Pax6 paired box 6 ISO OMIM NCBI chrNW_004936533:5,952,529...5,980,889 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_004936563:1,713,294...1,732,431 JBrowse link
anterior segment dysgenesis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101970101 cytochrome P450 1B1 ISO OMIM NCBI chrNW_004936663:345,021...355,188 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_004936532:462,507...543,549 JBrowse link
anterior segment dysgenesis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpamd8 C3 and PZP like alpha-2-macroglobulin domain containing 8 ISO OMIM NCBI chrNW_004936596:3,756,446...3,819,840 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_004936672:1,686,070...1,838,315 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_004936471:10,747,030...10,969,223 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_004936488:3,682,044...3,790,988 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_004936580:782,146...791,388 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_004936472:2,416,043...2,543,561 JBrowse link
G Dact1 dishevelled binding antagonist of beta catenin 1 ISO ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:26893459 NCBI chrNW_004936495:3,017,029...3,026,759 JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:26893459 NCBI chrNW_004936676:1,870,856...2,138,832 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_004936539:8,338,624...8,508,031 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_004936563:1,713,294...1,732,431 JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:26893459 PMID:28492532 NCBI chrNW_004936626:4,241,993...4,301,919 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_004936533:5,952,529...5,980,889 JBrowse link
G Pitx2 paired like homeodomain 2 ISO OMIM NCBI chrNW_004936563:1,713,294...1,732,431 JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chrNW_004936662:388,279...524,803 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_004936778:1,056,259...1,137,772 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_004936778:847,473...943,038 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_004936778:515,600...530,828 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_004936778:394,985...430,070 JBrowse link
G CUNH21orf58 chromosome unknown C21orf58 homolog ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chrNW_004936778:252,866...264,677 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_004936778:49,130...123,345 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_004936778:1,225,872...1,264,736 JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chrNW_004936778:375,800...390,764 JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chrNW_004936778:323,120...351,100 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_004936778:273,152...318,157 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_004936778:552,290...720,724 JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chrNW_004936778:149,844...248,905 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_004936563:1,713,294...1,732,431 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_004936778:1,024,066...1,036,365 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_004936778:12,988...31,217 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_004936778:823,376...846,843 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_004936778:354,424...369,473 JBrowse link
G Ybey ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chrNW_004936778:265,855...273,053 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_004936765:667,107...670,627 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_004936765:667,107...670,627 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_004936594:5,170,711...5,173,251 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_004936664:3,610,004...3,629,850 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_004936489:8,811,094...9,202,423 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_004936751:478,978...622,818 JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:25741868 NCBI chrNW_004936521:4,309,699...4,497,755 JBrowse link
G LOC101957795 probable palmitoyltransferase ZDHHC14 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:24674232 NCBI chrNW_004936489:9,407,185...9,599,783 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_004936503:2,835,512...3,001,365 JBrowse link
G Snx9 sorting nexin 9 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:24674232 NCBI chrNW_004936489:9,736,255...9,804,841 JBrowse link
G Tmem242 transmembrane protein 242 ISO ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:24674232 NCBI chrNW_004936489:9,274,772...9,303,095 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_004936540:1,136,403...1,137,984 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_004936540:1,136,403...1,137,984 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_004936540:1,467,169...1,493,218 JBrowse link
G Foxl2 forkhead box L2 ISO OMIM NCBI chrNW_004936540:1,136,403...1,137,984 JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chrNW_004936540:1,451,882...1,466,569 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_004936521:4,267,619...4,305,481 JBrowse link
G Kat6b lysine acetyltransferase 6B ISO OMIM NCBI chrNW_004936521:4,309,699...4,497,755 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_004936471:3,930,167...3,932,356 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_004936662:388,279...524,803 JBrowse link
G Znf469 zinc finger protein 469 ISO OMIM NCBI chrNW_004936641:1,193,085...1,205,283 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_004936662:388,279...524,803 JBrowse link
buphthalmos term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101970101 cytochrome P450 1B1 susceptibility ISO DNA:snp:cds:p.E387K (human)
DNA:polymorphisms:multiple (human)
DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N (human)
DNA:deletion, snp:exons:g.4339delG, p.G61E (human)
OMIM
RGD
PMID:10227395 PMID:19597567 PMID:20664688 PMID:23922489 RGD:7800657 RGD:7800670 RGD:7800680 RGD:7800689 NCBI chrNW_004936663:345,021...355,188 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_004936488:3,682,044...3,790,988 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_004936481:15,544,733...15,556,813 JBrowse link
G Rmdn2 regulator of microtubule dynamics 2 ISO ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar NCBI chrNW_004936663:387,358...471,199 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_004936470:6,632,724...6,967,878 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_004936721:975,113...981,149 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_004936821:290,240...381,126 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_004936721:757,500...778,416 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_004936533:5,985,873...6,216,124 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_004936533:5,952,529...5,980,889 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_004936560:2,881,631...3,057,256 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_004936477:12,315,829...12,415,915 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_004936475:6,219,187...6,321,612 JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: CEREBELLAR VERMIS HYPO/APLASIA, OLIGOPHRENIA, CONGENITAL ATAXIA, OCULAR COLOBOMA, AND HEPATIC FIBROSIS
ClinVar Annotator: match by term: Joubert syndrome with congenital hepatic fibrosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
DNA:missense mutations: :multiple
ClinVar Annotator: match by term: COACH syndrome
ClinVar
CTD
RGD
PMID:2929661 PMID:8862632 PMID:12368986 PMID:17160906 PMID:17397051 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:23559409 PMID:25326635 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28492532 PMID:28497568 PMID:28973083 RGD:11535944 RGD:11535946 NCBI chrNW_004936544:6,887,867...6,931,669 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_004936477:12,315,829...12,415,915 JBrowse link
G Rpgrip1l RPGRIP1 like ISO ClinVar Annotator: match by term: COACH SYNDROME 1 ClinVar PMID:17558409 PMID:25741868 PMID:28492532 NCBI chrNW_004936475:6,219,187...6,321,612 JBrowse link
G Tmem67 transmembrane protein 67 ISO OMIM NCBI chrNW_004936544:6,887,867...6,931,669 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_004936477:12,315,829...12,415,915 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_004936475:6,219,187...6,321,612 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_004936588:3,287,334...3,327,748 JBrowse link
G Lonp1 lon peptidase 1, mitochondrial ISO OMIM NCBI chrNW_004936588:3,265,344...3,287,035 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_004936594:5,368,199...5,379,215 JBrowse link
G Sec24d SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936869:485,706...566,591 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_004936594:5,368,199...5,379,215 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_004936869:485,706...566,591 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_004936765:667,107...670,627 JBrowse link
G Actg1 actin gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22366783 NCBI chrNW_004936594:5,170,711...5,173,251 JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25004007 NCBI chrNW_004936575:6,467,224...6,506,052 JBrowse link
G Bfsp1 beaded filament structural protein 1 ISO ClinVar Annotator: match by term: Ocular coloboma ClinVar PMID:24281366 PMID:28492532 NCBI chrNW_004936485:2,566,698...2,599,946 JBrowse link
G Capn15 calpain 15 ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:25741868 NCBI chrNW_004936501:444,100...458,461 JBrowse link
G Cdk5rap2 CDK5 regulatory subunit associated protein 2 ISO ClinVar Annotator: match by term: Coloboma ClinVar NCBI chrNW_004936487:8,900,375...9,081,547 JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar NCBI chrNW_004936572:6,176,267...6,268,885 JBrowse link
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:26660953 NCBI chrNW_004936599:3,652,889...3,657,171 JBrowse link
G Fzd5 frizzled class receptor 5 ISO ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:25741868 PMID:26908622 NCBI chrNW_004936631:3,909,046...3,915,939 JBrowse link
G Lamb1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18809619 NCBI chrNW_004936479:16,177,200...16,245,268 JBrowse link
G LOC101970101 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_004936663:345,021...355,188 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_004936689:694,119...696,840 JBrowse link
G Pax6 paired box 6 ISO OMIM NCBI chrNW_004936533:5,952,529...5,980,889 JBrowse link
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT ClinVar PMID:29178648 NCBI chrNW_004936601:1,401,215...1,410,195 JBrowse link
G Sall2 spalt like transcription factor 2 ISO OMIM NCBI chrNW_004936880:670,063...685,532 JBrowse link
G Slbp stem-loop binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30695021 NCBI chrNW_004936477:21,672,143...21,680,899 JBrowse link
G Slc16a12 solute carrier family 16 member 12 ISO ClinVar Annotator: match by term: Ocular coloboma ClinVar PMID:24281366 NCBI chrNW_004936601:4,685,215...4,766,116 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_004936544:6,887,867...6,931,669 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_004936484:12,948,803...13,020,555 JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT ClinVar PMID:24462371 NCBI chrNW_004936551:5,638,383...5,740,523 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_004936558:418,998...441,637 JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:25741868 NCBI chrNW_004936533:5,985,873...6,216,124 JBrowse link
G Pax6 paired box 6 ISO OMIM NCBI chrNW_004936533:5,952,529...5,980,889 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_004936603:1,682,411...1,858,295 JBrowse link
congenital aphakia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxe3 forkhead box E3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital primary aphakia
ClinVar Annotator: match by term: Aphakia, congenital primary
CTD
ClinVar
PMID:3550563 PMID:11159941 PMID:11980846 PMID:16826526 PMID:19708017 PMID:20140963 PMID:20361012 PMID:21150893 PMID:24033266 PMID:24033328 PMID:25504734 PMID:25741868 PMID:26854927 PMID:26995144 PMID:28492532 PMID:29136273 PMID:29878917 PMID:32499604 NCBI chrNW_004936474:28,211,144...28,212,963 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_004936762:1,292,572...1,319,145 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_004936620:710,917...718,205 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_004936565:6,671,578...6,837,514 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_004936613:2,793,706...2,862,984 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_004936580:782,146...791,388 JBrowse link
G Fbn1 fibrillin 1 ISO DNA:missense mutation:exon:p.C587R (c.1759T>C) (human)
ClinVar Annotator: match by term: Ectopia lentis
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.G214S (G640G>A) (human)
DNA:missense mutation:exon:p.C102Y (c.305G>A) (human)
DNA:missense mutation:exon:p.Y754C (c.2262A>G) (human)
DNA:missense mutation:cds:p.R240C (human)
DNA:missense mutation:exon:p.R62C (c.184C>T) (human)
RGD
ClinVar
CTD
PMID:7611299 PMID:7870075 PMID:8136837 PMID:8653794 PMID:8723076 PMID:8894692 PMID:9399842 PMID:9401003 PMID:9837823 PMID:10533071 PMID:10633129 PMID:10874320 PMID:11700157 PMID:11992479 PMID:12402346 PMID:12938084 PMID:14695540 PMID:15054843 PMID:15733436 PMID:16220557 PMID:16222657 PMID:16835936 PMID:17253931 PMID:17418587 PMID:17627385 PMID:17657824 PMID:17663468 PMID:19159394 PMID:19293843 PMID:21542060 PMID:21895641 PMID:22219643 PMID:22393277 PMID:22772368 PMID:22950452 PMID:23577066 PMID:24033266 PMID:24161884 PMID:24793577 PMID:24941995 PMID:25326635 PMID:25504618 PMID:25741868 PMID:25812041 PMID:25852444 PMID:26133393 PMID:26558191 PMID:28492532 PMID:29543232 PMID:31227806 RGD:12904906 RGD:12910138 RGD:12910140 RGD:12910479 RGD:12910481 RGD:1300363 RGD:1580380 NCBI chrNW_004936471:10,747,030...10,969,223 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_004936580:782,146...791,388 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_004936496:11,604,992...11,815,680 JBrowse link
exudative vitreoretinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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_004936498:14,657,641...14,666,853 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_004936599:1,746,309...1,814,471 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_004936498:14,560,730...14,563,195 JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Familial exudative vitreoretinopathy ClinVar PMID:25250762 PMID:28041643 NCBI chrNW_004936605:4,265,475...4,338,518 JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Familial exudative vitreoretinopathy ClinVar NCBI chrNW_004936562:2,394,368...2,400,924 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_004936498:14,163,335...14,202,715 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_004936498:13,711,613...13,767,373 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_004936498:13,569,401...13,570,751 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_004936498:13,547,968...13,553,846 JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:28575650 NCBI chrNW_004936473:29,999,542...30,034,610 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_004936498:11,549,526...13,519,638 JBrowse link
G Eed embryonic ectoderm development ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004936498:14,050,731...14,082,410 JBrowse link
G Fzd4 frizzled class receptor 4 ISO OMIM NCBI chrNW_004936498:14,657,641...14,666,853 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_004936498:14,110,382...14,138,095 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_004936599:1,746,309...1,814,471 JBrowse link
G Me3 malic enzyme 3 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004936498:14,216,510...14,422,936 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_004936498:13,785,638...13,885,931 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_004936498:14,560,730...14,563,195 JBrowse link
G Sytl2 synaptotagmin like 2 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004936498:13,577,839...13,681,782 JBrowse link
G Tmem126a transmembrane protein 126A ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004936498:13,538,565...13,545,338 JBrowse link
G Tmem126b transmembrane protein 126B ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004936498:13,519,751...13,526,770 JBrowse link
G Tmem135 transmembrane protein 135 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chrNW_004936736:1,986,361...2,113,455 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_004936562:2,394,368...2,400,924 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_004936599:1,746,309...1,814,471 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_004936605:4,265,475...4,338,518 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_004936562:2,394,368...2,400,924 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_004936473:29,999,542...30,034,610 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_004936641:3,757,107...3,778,939 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_004936676:1,870,856...2,138,832 JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17163535 NCBI chrNW_004936565:6,671,578...6,837,514 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_004936676:1,870,856...2,138,832 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_004936565:6,671,578...6,837,514 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_004936545:4,353,056...4,606,196 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_004936565:6,671,578...6,837,514 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_004936521:7,951,176...8,025,666 JBrowse link
G Aipl1 aryl hydrocarbon receptor interacting protein like 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004936677:1,539,502...1,548,343 JBrowse link
G Aspa aspartoacylase ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004936677:219,459...232,545 JBrowse link
G Bclaf1 BCL2 associated transcription factor 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004936560:3,681,145...3,711,831 JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004936595:1,417,718...1,420,480 JBrowse link
G Gnb5 G protein subunit beta 5 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004936471:13,952,462...14,001,663 JBrowse link
G Grip1 glutamate receptor interacting protein 1 ISO OMIM NCBI chrNW_004936545:4,353,056...4,606,196 JBrowse link
G Lsm10 LSM10, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004936474:18,822,317...18,825,158 JBrowse link
G Med23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004937067:14...41,438 JBrowse link
G Mpc1 mitochondrial pyruvate carrier 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004936489:16,179,321...16,181,991 JBrowse link
G Myo18b myosin XVIIIB ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004936657:551,535...764,247 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_004936664:2,439,434...2,464,878 JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar PMID:28492532 NCBI chrNW_004936626:4,241,993...4,301,919 JBrowse link
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004936677:167,324...197,860 JBrowse link
G Tlcd3a TLC domain containing 3A ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004936538:7,038,799...7,049,428 JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chrNW_004936538:7,856,263...7,868,249 JBrowse link
Frontonasal Dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx1 ALX homeobox 1 ISO OMIM NCBI chrNW_004936507:2,775,752...2,797,065 JBrowse link
Gillespie syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itpr1 inositol 1,4,5-trisphosphate receptor type 1 ISO OMIM NCBI chrNW_004936577:3,896,455...4,198,396 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_004936706:908,471...929,075 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_004936623:3,862,234...3,891,849 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_004936496:12,381,225...12,505,121 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_004936472:23,442,946...23,617,523 JBrowse link
G Kdr kinase insert domain receptor ISO RGD PMID:22426483 RGD:8549773 NCBI chrNW_004936482:17,537,697...17,581,320 JBrowse link
G LOC101970101 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_004936663:345,021...355,188 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_004936602:3,419,873...3,436,119 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_004936563:1,713,294...1,732,431 JBrowse link
isolated cryptophthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frem1 FRAS1 related extracellular matrix 1 ISO DNA:deletion, frame shift:cds, splice junction:
DNA:missense mutation:cds:c.1687A>T c (p.I563F)(mouse)
RGD PMID:23221805 PMID:23536828 RGD:11554181 RGD:11554185 NCBI chrNW_004936539:8,338,624...8,508,031 JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO OMIM NCBI chrNW_004936565:6,671,578...6,837,514 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_004936488:3,487,718...3,507,802 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_004936497:5,451,055...5,457,334 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_004936470:46,361,528...46,379,576 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_004936542:4,269,636...4,271,497 JBrowse link
G Mfrp membrane frizzled-related protein ISO OMIM NCBI chrNW_004936542:4,272,250...4,277,231 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_004936542:4,269,636...4,271,497 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_004936542:4,272,250...4,277,231 JBrowse link
G Prss56 serine protease 56 ISO OMIM NCBI chrNW_004936525:4,568,854...4,574,332 JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC ClinVar NCBI chrNW_004936488:3,487,718...3,507,802 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_004937847:8,179...16,783 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_004936483:2,930,781...2,967,309 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_004936495:4,716,359...4,719,162 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_004936470:6,632,724...6,967,878 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_004936601:1,401,215...1,410,195 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_004936488:3,487,718...3,507,802 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_004936527:10,033,095...10,042,713 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_004937847:8,179...16,783 JBrowse link
G Gdf6 growth differentiation factor 6 ISO OMIM NCBI chrNW_004936470:46,361,528...46,379,576 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_004936569:1,628,649...1,635,599 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_004936554:6,180,883...6,871,178 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_004936560:2,881,631...3,057,256 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_004936666:115,964...179,639 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_004936881:396,930...411,059 JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar PMID:18950740 PMID:19777577 PMID:21068128 PMID:22241855 PMID:22425360 PMID:22995991 PMID:23012439 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26485645 PMID:27081510 PMID:27082236 PMID:28492532 NCBI chrNW_004936477:12,315,829...12,415,915 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_004936507:5,223,756...5,305,392 JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:26092869 NCBI chrNW_004936518:4,706,496...4,847,283 JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO OMIM NCBI chrNW_004936669:1,377,005...1,385,287 JBrowse link
G Micall2 MICAL like 2 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar NCBI chrNW_004936754:1,567,815...1,586,843 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_004936490:4,865,243...4,876,601 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_004936470:3,292,961...3,331,915 JBrowse link
G Rpgrip1l RPGRIP1 like ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar PMID:17558409 PMID:19430481 PMID:25741868 PMID:28492532 NCBI chrNW_004936475:6,219,187...6,321,612 JBrowse link
G Tctn1 tectonic family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21725307 NCBI chrNW_004936558:3,552,909...3,581,212 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_004936581:1,654,021...1,658,526 JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936726:872,368...892,185 JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar PMID:9375913 PMID:17377820 PMID:17397051 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28431631 PMID:28492532 PMID:29891882 NCBI chrNW_004936544:6,887,867...6,931,669 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_004936469:13,365,168...13,454,340 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_004936581:1,654,021...1,658,526 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_004936602:4,264,896...4,278,160 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_004936477:12,315,829...12,415,915 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_004936579:4,847,137...4,890,478 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_004936591:3,347,346...3,368,062 JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chrNW_004936471:26,781,420...26,856,556 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_004936482:17,727,418...17,744,780 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_004936796:630,307...675,157 JBrowse link
G Ube3b ubiquitin protein ligase E3B ISO OMIM NCBI chrNW_004936769:1,197,596...1,248,173 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 LOC101967130 cytochrome c oxidase subunit 7B, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936683:2,781,614...2,787,570 JBrowse link
G LOC101978619 cytochrome c-type heme lyase ISO OMIM NCBI chrNW_004936470:1,025,017...1,038,534 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_004936502:12,921,371...12,923,702 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_004936626:802,415...1,141,260 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_004936539:8,338,624...8,508,031 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_004936601:2,163,316...2,213,674 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_004936475:25,698,117...25,831,291 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_004936500:5,317,109...5,423,593 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_004936533:5,985,873...6,216,124 JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10739753 NCBI chrNW_004936728:706,499...843,447 JBrowse link
G Fancd2 FA complementation group D2 ISO RGD PMID:12893777 RGD:11344906 NCBI chrNW_004936602:3,162,177...3,220,468 JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: therapeutic CTD PMID:32472575 NCBI chrNW_004936600:4,004,847...4,010,626 JBrowse link
G Gja8 gap junction protein alpha 8 ISO DNA:missense mutation:cds:p.L7Q(rat) RGD PMID:18470322 RGD:2293186 NCBI chrNW_004936867:374,638...378,080 JBrowse link
G Hmx1 H6 family homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19379485 NCBI chrNW_004936477:19,958,786...19,962,657 JBrowse link
G LOC101978619 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_004936470:1,025,017...1,038,534 JBrowse link
G Lrp5 LDL receptor related protein 5 ISO DNA:mutation:splice junction: RGD PMID:28111184 RGD:12793059 NCBI chrNW_004936599:1,746,309...1,814,471 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_004936542:4,272,250...4,277,231 JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Anophthalmia/Microphthalmia ClinVar PMID:26893459 PMID:28492532 NCBI chrNW_004936669:1,292,016...1,334,061 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_004936533:5,952,529...5,980,889 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_004936600:3,607,883...3,619,538 JBrowse link
G Prss56 serine protease 56 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532570 NCBI chrNW_004936525:4,568,854...4,574,332 JBrowse link
G Shh sonic hedgehog signaling molecule ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:31690747 PMID:32472575 NCBI chrNW_004936527:10,033,095...10,042,713 JBrowse link
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936495:4,716,359...4,719,162 JBrowse link
G Stau2 staufen double-stranded RNA binding protein 2 ISO RGD PMID:22940085 RGD:10043154 NCBI chrNW_004936648:2,172,263...2,470,494 JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18316031 NCBI chrNW_004936471:33,224,174...33,245,076 JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Nanophthalmos ClinVar PMID:25741868 NCBI chrNW_004936534:2,481,804...2,518,573 JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia/Microphthalmia
ClinVar Annotator: match by term: Microphthalmia
ClinVar PMID:15257456 PMID:24033328 PMID:25741868 PMID:26893459 PMID:28492532 NCBI chrNW_004936488:3,487,718...3,507,802 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_004936497:12,242,869...12,278,012 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_004936488:3,487,718...3,507,802 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_004936488:3,682,044...3,790,988 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_004936488:3,682,044...3,790,988 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_004936542:4,269,636...4,271,497 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_004936542:4,272,250...4,277,231 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_004936525:4,568,854...4,574,332 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_004936581:1,335,969...1,367,104 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_004936542:4,269,636...4,271,497 JBrowse link
G Mfrp membrane frizzled-related protein ISO OMIM NCBI chrNW_004936542:4,272,250...4,277,231 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_004936538:2,065,663...2,074,678 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_004936631:2,649,792...2,686,430 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_004936529:826,178...841,304 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_004936733:2,121,875...2,129,988 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_004936623:2,678,627...2,942,387 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_004936619:448,304...592,981 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_004936599:633,501...639,412 JBrowse link
G Hmx1 H6 family homeobox 1 ISO OMIM NCBI chrNW_004936477:19,958,786...19,962,657 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_004936762:460,342...483,264 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_004936762:460,342...483,264 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_004936495:4,716,359...4,719,162 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_004936502:10,080,169...10,105,155 JBrowse link
G Pax6 paired box 6 ISO DNA:snp:cds:pN64K (mouse) RGD PMID:19345209 RGD:8551891 NCBI chrNW_004936533:5,952,529...5,980,889 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_004936521:10,038,345...10,039,345 JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive ClinVar PMID:25250762 NCBI chrNW_004936605:4,265,475...4,338,518 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_004936522:3,498,395...4,612,560 JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar NCBI chrNW_004936533:5,985,873...6,216,124 JBrowse link
G Ephb2 EPH receptor B2 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chrNW_004936474:8,109,800...8,203,106 JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chrNW_004936554:2,872,729...2,996,821 JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chrNW_004936662:3,537,917...3,704,012 JBrowse link
G Frem1 FRAS1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:21931569 PMID:26893459 NCBI chrNW_004936539:8,338,624...8,508,031 JBrowse link
G LOC101970101 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_004936663:345,021...355,188 JBrowse link
G Pax6 paired box 6 ISO DNA:snp:cds:pN64K (mouse)
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar Annotator: match by term: Peters anomaly
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:19345209 PMID:24281366 PMID:25741868 PMID:28492532 PMID:32499604 RGD:8551891 NCBI chrNW_004936533:5,952,529...5,980,889 JBrowse link
G Pitrm1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar Annotator: match by term: Peters anomaly
ClinVar PMID:26893459 NCBI chrNW_004936484:11,071,407...11,104,828 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_004936563:1,713,294...1,732,431 JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chrNW_004936538:7,780,022...7,814,575 JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:1347096 PMID:26893459 PMID:28492532 NCBI chrNW_004936626:4,241,993...4,301,919 JBrowse link
G Rarg retinoic acid receptor gamma ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chrNW_004936512:10,502,954...10,524,796 JBrowse link
G Rmdn2 regulator of microtubule dynamics 2 ISO ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar Annotator: match by term: Peters anomaly
ClinVar NCBI chrNW_004936663:387,358...471,199 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_004936472:25,909,994...25,991,800 JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Peters plus syndrome ClinVar PMID:25741868 PMID:29584859 NCBI chrNW_004936600:4,004,847...4,010,626 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_004936592:4,728,371...4,833,830 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_004936529:826,178...841,304 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_004936557:3,292,927...3,309,002 JBrowse link
G Ripk4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Popliteal pterygium syndrome ClinVar NCBI chrNW_004936500:2,017,519...2,038,777 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_004936500:2,017,519...2,038,777 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_004936600:4,850,594...4,939,010 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_004936567:6,347,661...6,559,731 JBrowse link
G Slbp stem-loop binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:30695021 NCBI chrNW_004936477:21,672,143...21,680,899 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_004936503:6,688,476...7,188,417 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_004936601:1,401,215...1,410,195 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_004936628:3,642,281...3,695,262 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_004936697:1,054,237...1,061,468 JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Syndromic Microphthalmia, Dominant ClinVar PMID:28492532 NCBI chrNW_004936495:1,433,124...1,449,409 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_004936502:6,764,043...6,812,194 JBrowse link
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO OMIM NCBI chrNW_004936809:812,454...817,226 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_004936486:6,972,972...6,978,544 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_004936473:16,983,829...17,146,517 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_004936714:1,523,016...1,527,301 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_004936689:429,907...1,080,226 JBrowse link
G Mab21l2 mab-21 like 2 ISO OMIM NCBI chrNW_004936689:694,119...696,840 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_004936502:6,764,043...6,812,194 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_004936495:4,716,359...4,719,162 JBrowse link
G Sox2 SRY-box transcription factor 2 ISO OMIM NCBI chrNW_004936566:1,630,698...1,632,607 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_004936532:5,864,851...5,904,005 JBrowse link
G Arr3 arrestin 3 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004936762:1,194,251...1,207,914 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_004936475:18,990,529...19,065,954 JBrowse link
G Cep83 centrosomal protein 83 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004936507:10,671,371...10,792,863 JBrowse link
G Chrd chordin ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004936578:5,498,473...5,507,195 JBrowse link
G Dicer1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chrNW_004936846:528,768...584,599 JBrowse link
G Efhd1 EF-hand domain family member D1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004936525:4,445,779...4,484,674 JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar NCBI chrNW_004936533:5,985,873...6,216,124 JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004936662:3,537,917...3,704,012 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_004936477:21,591,772...21,606,289 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_004936676:1,870,856...2,138,832 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_004936469:49,616,552...49,788,760 JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004936493:5,108,437...5,145,160 JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004936493:5,145,237...5,146,904 JBrowse link
G LOC101978131 cytochrome P450 26C1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004936601:1,818,037...1,828,400 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_004936480:11,082,811...11,156,691 JBrowse link
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004936603:1,682,411...1,858,295 JBrowse link
G Myo1c myosin IC ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004936538:7,614,985...7,639,603 JBrowse link
G Ndst2 N-deacetylase and N-sulfotransferase 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004936521:5,336,658...5,346,704 JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chrNW_004936669:1,292,016...1,334,061 JBrowse link
G Notch4 notch receptor 4 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chrNW_004936727:1,386,842...1,409,823 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_004936567:4,084,161...4,194,858 JBrowse link
G Otx2 orthodenticle homeobox 2 ISO OMIM NCBI chrNW_004936495:1,433,124...1,449,409 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_004936533:5,952,529...5,980,889 JBrowse link
G Pfkp phosphofructokinase, platelet ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004936484:11,105,814...11,161,238 JBrowse link
G Plxnc1 plexin C1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004936507:10,525,975...10,670,511 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_004936626:4,241,993...4,301,919 JBrowse link
G Rax retina and anterior neural fold homeobox ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar NCBI chrNW_004936497:5,451,055...5,457,334 JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 PMID:28492532 NCBI chrNW_004936880:440,900...511,503 JBrowse link
G Sall3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004936616:903,220...922,635 JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004936501:12,562,731...12,582,475 JBrowse link
G Sfrp2 secreted frizzled related protein 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004936576:604,174...612,440 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_004936495:4,716,359...4,719,162 JBrowse link
G Sox14 SRY-box transcription factor 14 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004936540:160,638...162,662 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_004936471:33,224,174...33,245,076 JBrowse link
G Sulf1 sulfatase 1 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004936496:4,755,806...4,931,964 JBrowse link
G Tamalin trafficking regulator and scaffold protein tamalin ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004936512:9,458,549...9,467,350 JBrowse link
G Tshz2 teashirt zinc finger homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004936514:2,117,409...2,362,596 JBrowse link
G Vax2 ventral anterior homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004936491:15,079,446...15,110,238 JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:24033328 PMID:26893459 NCBI chrNW_004936488:3,487,718...3,507,802 JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:26893459 NCBI chrNW_004936898:45,903...70,313 JBrowse link
G Wnt7b Wnt family member 7B ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 NCBI chrNW_004936629:3,869,976...3,907,932 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_004936697:1,054,237...1,061,468 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_004936564:4,472,171...4,520,732 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_004936483:2,930,781...2,967,309 JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO OMIM NCBI chrNW_004936471:33,224,174...33,245,076 JBrowse link
G Wnt7b Wnt family member 7B ISO ClinVar Annotator: match by term: Microphthalmia syndromic 9 ClinVar PMID:25741868 NCBI chrNW_004936629:3,869,976...3,907,932 JBrowse link
Temtamy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation induced cytidine deaminase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004936870:25,039...34,601 JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004936709:886,571...894,746 JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004936709:709,001...719,758 JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004936709:695,898...705,189 JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004936709:731,211...742,583 JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004936892:347,547...355,143 JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004936709:966,559...969,667 JBrowse link
G Clec4a C-type lectin domain family 4 member A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004936892:454,036...467,957 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_004936858:303,639...312,092 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_004936858:316,954...321,668 JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004936709:641,615...673,309 JBrowse link
G CUNH12orf57 chromosome unknown C12orf57 homolog ISO OMIM NCBI chrNW_004936709:884,741...886,617 JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004936709:847,229...854,471 JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004936709:904,647...913,445 JBrowse link
G Fam90a1 family with sequence similarity 90 member A1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004937327:19,316...24,170 JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004936892:324,103...344,739 JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004937847:8,179...16,783 JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004936709:970,169...977,059 JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004936709:800,197...852,659 JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004936709:914,077...923,169 JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004936870:58,863...65,844 JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004936892:181,834...187,691 JBrowse link
G Nanognb NANOG neighbor homeobox ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004936870:763,004...765,847 JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004936892:372,743...385,127 JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004936709:977,851...989,949 JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004936709:587,296...606,085 JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004936709:854,493...859,182 JBrowse link
G Ptpn6 protein tyrosine phosphatase non-receptor type 6 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004936709:864,206...884,630 JBrowse link
G Rbp5 retinol binding protein 5 ISO