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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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9753320 NCBI chr12:98,645,141...98,735,433
Ensembl chr12:98,645,141...98,735,433
Ensembl chr12:98,645,141...98,735,433
JBrowse link
G APC APC regulator of WNT signaling pathway EXP CTD Direct Evidence: marker/mechanism CTD PMID:16938888 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:15804571 NCBI chr10:86,755,786...86,927,969
Ensembl chr10:86,756,601...86,932,838
Ensembl chr10:86,756,601...86,932,838
JBrowse link
G BMPR1B bone morphogenetic protein receptor type 1B EXP CTD Direct Evidence: marker/mechanism CTD PMID:15804571 NCBI chr 4:94,757,955...95,158,453
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G COL4A1 collagen type IV alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:20385946 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157
JBrowse link
G COL5A2 collagen type V alpha 2 chain IAGP DNA:splicing error RGD PMID:16431952 RGD:1600694 NCBI chr 2:189,031,898...189,225,301
Ensembl chr 2:189,031,898...189,225,312
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A EXP CTD Direct Evidence: marker/mechanism CTD PMID:22522421 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
Ensembl chr 7:16,087,525...16,502,504
JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23221805 NCBI chr 9:14,734,666...14,911,653
Ensembl chr 9:14,734,666...14,910,995
Ensembl chr 9:14,734,666...14,910,995
JBrowse link
G IFT122 intraflagellar transport 122 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 3:129,440,075...129,520,507
Ensembl chr 3:129,440,036...129,520,507
JBrowse link
G JAG1 jagged canonical Notch ligand 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9207787 PMID:9207788 PMID:12022040 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
JBrowse link
G NDST1 N-deacetylase and N-sulfotransferase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16020517 NCBI chr 5:150,497,779...150,558,211
Ensembl chr 5:150,485,818...150,558,211
JBrowse link
G PAX6 paired box 6 IAGP RGD PMID:12721955, PMID:10441571 RGD:1601211, RGD:1601210 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
JBrowse link
G SH3PXD2B SH3 and PX domains 2B EXP CTD Direct Evidence: marker/mechanism CTD PMID:19669234 NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525
JBrowse link
G SHH sonic hedgehog signaling molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:24973920 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP DNA:mutations: :multiple
DNA:missense mutation: :p.D123G (human)
RGD PMID:19921648, PMID:19471311 RGD:8661660, RGD:8661661 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
JBrowse link
G TFAP2A transcription factor AP-2 alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:19685247 NCBI chr 6:10,396,677...10,419,897
Ensembl chr 6:10,393,186...10,419,659
JBrowse link
G TGFB2 transforming growth factor beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9217007 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16885183 NCBI chr 3:30,606,472...30,694,142
Ensembl chr 3:30,606,601...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
G VSX1 visual system homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15051220 NCBI chr20:25,069,940...25,082,141
Ensembl chr20:25,070,885...25,082,141
Ensembl chr20:25,070,885...25,082,141
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 IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
JBrowse link
G AHSG alpha 2-HS glycoprotein IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,613,060...186,621,318
Ensembl chr 3:186,613,060...186,621,318
JBrowse link
G COLEC11 collectin subfamily member 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644
JBrowse link
G CRYGS crystallin gamma S IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,538,443...186,544,380
Ensembl chr 3:186,538,441...186,546,702
JBrowse link
G DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,570,720...186,585,793
Ensembl chr 3:186,567,403...186,585,800
JBrowse link
G EIF4A2 eukaryotic translation initiation factor 4A2 IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,783,577...186,789,897
Ensembl chr 3:186,783,205...186,789,897
JBrowse link
G FETUB fetuin B IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,635,969...186,653,141
Ensembl chr 3:186,635,969...186,653,141
JBrowse link
G HRG histidine rich glycoprotein IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,665,975...186,678,235
Ensembl chr 3:186,660,216...186,678,234
Ensembl chr 3:186,660,216...186,678,234
JBrowse link
G KNG1 kininogen 1 IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,717,359...186,744,410
Ensembl chr 3:186,717,348...186,744,410
JBrowse link
G MASP1 MBL associated serine protease 1 IAGP
EXP
ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:17937425 PMID:18266249 PMID:21035106 PMID:21258343 PMID:22966085 PMID:25741868 PMID:28492532 PMID:28794230 PMID:29407414 NCBI chr 3:187,217,282...187,293,529
Ensembl chr 3:187,217,285...187,292,022
Ensembl chr 3:187,217,285...187,292,022
JBrowse link
G RFC4 replication factor C subunit 4 IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,789,900...186,806,482
Ensembl chr 3:186,789,880...186,807,058
JBrowse link
G RPL39L ribosomal protein L39 like IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:187,120,948...187,139,496
Ensembl chr 3:187,120,948...187,180,908
JBrowse link
G RTP1 receptor transporter protein 1 IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:187,197,486...187,201,462
Ensembl chr 3:187,197,486...187,201,462
JBrowse link
G SNORA63 small nucleolar RNA, H/ACA box 63 IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,787,299...186,787,433
Ensembl chr 3:186,787,300...186,787,431
JBrowse link
G SNORA81 small nucleolar RNA, H/ACA box 81 IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,786,675...186,786,852
Ensembl chr 3:186,786,675...186,786,852
JBrowse link
G ST6GAL1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,930,526...187,078,553
Ensembl chr 3:186,930,502...187,078,553
Ensembl chr 3:186,930,502...187,078,553
JBrowse link
G TBCCD1 TBCC domain containing 1 IAGP ClinVar Annotator: match by term: Michels syndrome
ClinVar Annotator: match by term: 3MC syndrome 1
ClinVar PMID:28492532 PMID:29407414 NCBI chr 3:186,546,067...186,570,543
Ensembl chr 3:186,546,067...186,570,543
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 IAGP ClinVar Annotator: match by term: Ablepharon macrostomia syndrome OMIM
ClinVar
PMID:8746822 PMID:11038439 PMID:11807864 PMID:15103726 PMID:21595001 PMID:25741868 PMID:26119818 NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534
JBrowse link
aniridia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPK1 alpha kinase 1 IAGP ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:112,297,369...112,442,621
Ensembl chr 4:112,285,509...112,442,621
JBrowse link
G ANK2 ankyrin 2 IAGP ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
JBrowse link
G AP1AR adaptor related protein complex 1 associated regulatory protein IAGP ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:112,231,787...112,273,110
Ensembl chr 4:112,231,740...112,273,110
JBrowse link
G ARSJ arylsulfatase family member J IAGP ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:113,899,929...113,980,464
Ensembl chr 4:113,900,284...113,979,727
JBrowse link
G CAMK2D calcium/calmodulin dependent protein kinase II delta IAGP ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:113,451,032...113,762,177
Ensembl chr 4:113,451,032...113,761,927
JBrowse link
G DCDC1 doublecortin domain containing 1 IAGP ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr11:30,863,603...31,369,810
Ensembl chr11:30,830,369...31,369,810
JBrowse link
G DNAJC24 DnaJ heat shock protein family (Hsp40) member C24 IAGP ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr11:31,369,840...31,432,835
Ensembl chr11:31,369,840...31,432,835
JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 IAGP
EXP
ClinVar Annotator: match by term: Aniridia
ClinVar Annotator: match by term: Congenital aniridia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr11:31,509,767...31,790,324
Ensembl chr11:31,509,755...31,790,324
JBrowse link
G FAM241A family with sequence similarity 241 member A IAGP ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:112,145,454...112,195,256
Ensembl chr 4:112,145,454...112,195,256
JBrowse link
G FOXC1 forkhead box C1 IAGP ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
JBrowse link
G GLIS3 GLIS family zinc finger 3 IAGP ClinVar Annotator: match by term: Aniridia ClinVar PMID:26893459 NCBI chr 9:3,824,127...4,310,694
Ensembl chr 9:3,824,127...4,348,392
JBrowse link
G GMDS GDP-mannose 4,6-dehydratase IAGP ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 6:1,623,806...2,245,605
Ensembl chr 6:1,623,806...2,245,605
JBrowse link
G IMMP1L inner mitochondrial membrane peptidase subunit 1 IAGP ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr11:31,432,401...31,509,644
Ensembl chr11:31,432,401...31,509,645
JBrowse link
G KIF21A kinesin family member 21A IAGP ClinVar Annotator: match by term: Aniridia ClinVar PMID:26893459 NCBI chr12:39,293,228...39,443,147
Ensembl chr12:39,293,228...39,443,390
JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator IAGP ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:112,637,143...112,657,586
Ensembl chr 4:112,637,107...112,657,592
JBrowse link
G LOC105980003 E60 enhancer downstream of PAX6 IAGP ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr11:31,763,011...31,765,309 JBrowse link
G LOC105980005 RB enhancer downstream of PAX6 IAGP ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr11:31,601,275...31,602,571 JBrowse link
G LOC105980073 E100 enhancer downstream of PAX6 IAGP ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr11:31,710,933...31,713,865 JBrowse link
G LOC106007485 enhancer region in intron 7 of PAX6 IAGP ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr11:31,794,904...31,799,706 JBrowse link
G LOC106007493 regulatory region in intron 4 of PAX6 IAGP ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr11:31,804,115...31,804,358 JBrowse link
G LOC106014249 PAX6 upstream regulatory region IAGP ClinVar Annotator: match by term: Absent iris
ClinVar Annotator: match by term: Congenital aniridia
ClinVar NCBI chr11:31,811,105...31,827,240 JBrowse link
G LOC110120703 VISTA enhancer hs559 IAGP ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 4:111,500,646...111,501,749 JBrowse link
G LOC110120805 VISTA enhancer hs926 IAGP ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 4:111,747,146...111,748,759 JBrowse link
G LOC110120819 VISTA enhancer hs981 IAGP ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 4:112,521,234...112,522,374 JBrowse link
G LOC111591508 FOXA motif-containing MPRA enhancer 297 IAGP ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 4:113,645,953...113,646,097 JBrowse link
G LOC112935973 Sharpr-MPRA regulatory region 2998 IAGP ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 4:112,083,273...112,083,567 JBrowse link
G LOC112935974 Sharpr-MPRA regulatory region 9995 IAGP ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 4:112,297,133...112,297,427 JBrowse link
G LOC112935975 Sharpr-MPRA regulatory region 864 IAGP ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 4:112,760,153...112,760,447 JBrowse link
G LOC112935976 Sharpr-MPRA regulatory region 2369 IAGP ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 4:113,404,293...113,404,587 JBrowse link
G MIR1243 microRNA 1243 IAGP ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:113,106,863...113,106,955
Ensembl chr 4:113,106,863...113,106,955
JBrowse link
G MIR297 microRNA 297 IAGP ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:110,860,582...110,860,647
Ensembl chr 4:110,860,582...110,860,647
JBrowse link
G MIR302A microRNA 302a IAGP ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:112,648,183...112,648,251
Ensembl chr 4:112,648,183...112,648,251
JBrowse link
G MIR302B microRNA 302b IAGP ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:112,648,485...112,648,557
Ensembl chr 4:112,648,485...112,648,557
JBrowse link
G MIR302C microRNA 302c IAGP ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:112,648,363...112,648,430
Ensembl chr 4:112,648,363...112,648,430
JBrowse link
G MIR302CHG miR-302/367 cluster host gene IAGP ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 4:112,646,720...112,650,051
Ensembl chr 4:112,646,476...112,650,051
JBrowse link
G MIR302D microRNA 302d IAGP ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:112,648,004...112,648,071
Ensembl chr 4:112,648,004...112,648,071
JBrowse link
G MIR367 microRNA 367 IAGP ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:112,647,874...112,647,941
Ensembl chr 4:112,647,874...112,647,941
JBrowse link
G MIR8082 microRNA 8082 IAGP ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:113,152,282...113,152,362
Ensembl chr 4:113,152,282...113,152,362
JBrowse link
G NEUROG2 neurogenin 2 IAGP ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:112,513,516...112,516,180
Ensembl chr 4:112,513,516...112,516,180
JBrowse link
G NEUROG2-AS1 NEUROG2 and ZGRF1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 4:112,515,379...112,546,885 JBrowse link
G PAX6 paired box 6 susceptibility IAGP
EXP
ISO
DNA:mutations:exon, intron:multiple (human)
ClinVar Annotator: match by term: Congenital aniridia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Absent iris
ClinVar Annotator: match by term: Aniridia, atypical
associated with Nystagmus, Congenital;DNA:insertion:exon:c.888insA(human)
DNA:frameshift mutation:cds:p.P418SfsX87 (human)
associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human)
DNA:snps, nonsense mutation:introns, cds:IVS5a+1G>A, IVS8-1G>A, p.Q215X (mouse)
DNA:deletions:cds:c.170-174delTGGGC, c.475delC (human)
DNA:nonsense mutation:cds:p.R240X (human)
DNA:deletion:cds:p.Q297HfsX68 (human)
DNA:deletion:cds:p.R38PfsX12 (human)
DNA:deletion, snp:cds:p.R38GfsX16, p.S121L (human)
ClinVar
CTD
PMID:9931324 PMID:17417613 PMID:18322702 PMID:18776953 PMID:25741868 PMID:30221735, PMID:9138149, PMID:25366758, PMID:22550392, PMID:22393272, PMID:16080917, PMID:16303964, PMID:19862335, PMID:22815628, PMID:22171157, PMID:20664694, PMID:23734086 RGD:1601209, RGD:12790966, RGD:8552301, RGD:8552277, RGD:8552246, RGD:8551879, RGD:8551870, RGD:8551860, RGD:8551859, RGD:8551858, RGD:8551856 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
JBrowse link
G PAX6_HS8 HCNE8 enhancer downstream of PAX6 IAGP ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr11:31,477,323...31,481,610 JBrowse link
G PAX6DRR PAX6 downstream regulatory region IAGP ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr11:31,640,805...31,665,798 JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
JBrowse link
G SOX2-OT SOX2 overlapping transcript IAGP ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:181,056,680...181,742,228
Ensembl chr 3:180,989,762...181,836,880
JBrowse link
G TIFA TRAF interacting protein with forkhead associated domain IAGP ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:112,274,537...112,285,904
Ensembl chr 4:112,274,537...112,285,904
JBrowse link
G TRIM44 tripartite motif containing 44 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr11:35,662,692...35,818,007
Ensembl chr11:35,662,775...35,818,007
JBrowse link
G WT1 WT1 transcription factor EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
Ensembl chr11:32,387,775...32,435,564
JBrowse link
G ZGRF1 zinc finger GRF-type containing 1 IAGP ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:112,539,339...112,636,995
Ensembl chr 4:112,539,333...112,636,995
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 IAGP ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr11:30,863,603...31,369,810
Ensembl chr11:30,830,369...31,369,810
JBrowse link
G DNAJC24 DnaJ heat shock protein family (Hsp40) member C24 IAGP ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr11:31,369,840...31,432,835
Ensembl chr11:31,369,840...31,432,835
JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 IAGP 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 chr11:31,509,767...31,790,324
Ensembl chr11:31,509,755...31,790,324
JBrowse link
G IMMP1L inner mitochondrial membrane peptidase subunit 1 IAGP ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr11:31,432,401...31,509,644
Ensembl chr11:31,432,401...31,509,645
JBrowse link
G LOC105980003 E60 enhancer downstream of PAX6 IAGP ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:18483559 PMID:28492532 NCBI chr11:31,763,011...31,765,309 JBrowse link
G LOC105980073 E100 enhancer downstream of PAX6 IAGP ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:18483559 PMID:28492532 NCBI chr11:31,710,933...31,713,865 JBrowse link
G LOC106007485 enhancer region in intron 7 of PAX6 IAGP ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr11:31,794,904...31,799,706 JBrowse link
G LOC106007493 regulatory region in intron 4 of PAX6 IAGP ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr11:31,804,115...31,804,358 JBrowse link
G LOC106014249 PAX6 upstream regulatory region IAGP ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:25741868 NCBI chr11:31,811,105...31,827,240 JBrowse link
G LOC107982234 WT1/WT1-AS bi-directional promoter region IAGP ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:23349334 PMID:25741868 PMID:28492532 NCBI chr11:32,430,848...32,437,423 JBrowse link
G PAX6 paired box 6 IAGP ClinVar Annotator: match by term: Aniridia 1
ClinVar Annotator: match by term: Cataracts, congenital, with late-onset corneal dystrophy
ClinVar
OMIM
PMID:1251879 PMID:1302030 PMID:1954207 PMID:6988567 PMID:7550230 PMID:7666404 PMID:7951315 PMID:8111279 PMID:8111379 PMID:8364574 PMID:8640214 PMID:8689689 PMID:9138149 PMID:9482572 PMID:9651515 PMID:9727514 PMID:9792406 PMID:9931324 PMID:10234503 PMID:10737978 PMID:10887930 PMID:11284764 PMID:11309364 PMID:11431688 PMID:11479730 PMID:11553050 PMID:11826019 PMID:12015275 PMID:12552561 PMID:12634864 PMID:12721955 PMID:12731001 PMID:12868034 PMID:14561779 PMID:14744876 PMID:15086958 PMID:15579687 PMID:15846561 PMID:15889018 PMID:16098226 PMID:16493447 PMID:16712695 PMID:17148041 PMID:17406642 PMID:17417613 PMID:17568989 PMID:17595013 PMID:17630404 PMID:18241071 PMID:18483559 PMID:18776953 PMID:19218613 PMID:19862335 PMID:19876904 PMID:19898691 PMID:20054790 PMID:20577777 PMID:21397818 PMID:21423868 PMID:21848007 PMID:21850189 PMID:22171686 PMID:22361317 PMID:22509105 PMID:22692063 PMID:23734086 PMID:23761016 PMID:24138039 PMID:24390526 PMID:24737507 PMID:25678763 PMID:25741868 PMID:26535646 PMID:26661695 PMID:26694549 PMID:26849621 PMID:27081502 PMID:27124303 PMID:27307692 PMID:27431685 PMID:27455012 PMID:27463523 PMID:28321846 PMID:28488383 PMID:28492532 PMID:29217025 PMID:29618921 PMID:29780932 PMID:32860008 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
JBrowse link
G PAX6-AS1 PAX6 antisense RNA 1 IAGP ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:25741868 NCBI chr11:31,816,566...31,887,041
Ensembl chr11:31,812,307...32,002,405
JBrowse link
G PAX6DRR PAX6 downstream regulatory region IAGP ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:18483559 PMID:24290376 PMID:28492532 NCBI chr11:31,640,805...31,665,798 JBrowse link
G RCN1 reticulocalbin 1 IAGP ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr11:32,091,074...32,105,722
Ensembl chr11:32,090,904...32,105,755
Ensembl chr11:32,090,904...32,105,755
JBrowse link
G WT1 WT1 transcription factor IAGP 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 chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
Ensembl chr11:32,387,775...32,435,564
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 IAGP OMIM NCBI chr11:31,509,767...31,790,324
Ensembl chr11:31,509,755...31,790,324
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 IAGP ClinVar Annotator: match by term: Aniridia 3 ClinVar
OMIM
PMID:26394807 NCBI chr11:35,662,692...35,818,007
Ensembl chr11:35,662,775...35,818,007
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 IAGP
EXP
DNA:missense mutations:exon:multiple
ClinVar Annotator: match by term: AEC syndrome
ClinVar Annotator: match by term: Hay-Wells syndrome of ectodermal dysplasia
ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 PMID:19239083 PMID:19353588 PMID:19676059 PMID:19793345 PMID:21615690 PMID:28492532, PMID:11159940 RGD:11568643 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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 IAGP ClinVar Annotator: match by term: Anophthalmia ClinVar NCBI chr11:31,509,767...31,790,324
Ensembl chr11:31,509,755...31,790,324
JBrowse link
G LOC106014249 PAX6 upstream regulatory region IAGP ClinVar Annotator: match by term: Anophthalmia ClinVar NCBI chr11:31,811,105...31,827,240 JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP ClinVar Annotator: match by term: Anophthalmia ClinVar PMID:29178648 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
JBrowse link
G PAX6 paired box 6 IAGP ClinVar Annotator: match by term: Anophthalmia ClinVar NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
JBrowse link
G RAX retina and anterior neural fold homeobox EXP CTD Direct Evidence: marker/mechanism CTD PMID:15789424 NCBI chr18:59,267,038...59,273,454
Ensembl chr18:59,267,035...59,274,086
JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP
EXP
DNA:nonsense mutations: :multiple
CTD Direct Evidence: marker/mechanism
CTD PMID:21532573, PMID:12612584 RGD:1599088 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17273977 NCBI chr15:74,179,466...74,212,267
Ensembl chr15:74,179,466...74,212,267
JBrowse link
anterior segment dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:32499604 NCBI chr15:99,971,437...100,342,924
Ensembl chr15:99,971,437...100,342,005
JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:25741868 PMID:32499604 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157
JBrowse link
G CPAMD8 C3 and PZP like alpha-2-macroglobulin domain containing 8 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anterior segment dysgenesis
CTD
ClinVar
PMID:27839872 PMID:32499604 NCBI chr19:16,892,951...17,026,818
Ensembl chr19:16,892,951...17,026,815
Ensembl chr19:16,892,951...17,026,815
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar Annotator: match by term: Anterior segment ocular dysgenesis
CTD
ClinVar
PMID:9497261 PMID:11403040 PMID:11527932 PMID:12036985 PMID:17591938 PMID:18852424 PMID:19234632 PMID:19643970 PMID:22004014 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24281366 PMID:24940937 PMID:25741868 PMID:27243976 PMID:27272408 PMID:27508083 PMID:27820421 PMID:28192799 PMID:28448622 PMID:28492532 PMID:32499604 PMID:32832252 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 IAGP ClinVar Annotator: match by term: Anterior segment anomalies
ClinVar Annotator: match by term: Anterior segment anomalies and cataract
ClinVar PMID:10655545 NCBI chr 8:71,197,433...71,548,104
Ensembl chr 8:71,197,433...71,592,025
JBrowse link
G FOXC1 forkhead box C1 ISO
IAGP
ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:32499604, PMID:10767326 RGD:8662365 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
JBrowse link
G FOXE3 forkhead box E3 IAGP DNA:insertion:cds:c.943_944insG (human)
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar PMID:16826526 PMID:20361012 PMID:32499604, PMID:11159941 RGD:1598957 NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052
JBrowse link
G GJA8 gap junction protein alpha 8 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:32499604 NCBI chr 1:147,902,795...147,915,287
Ensembl chr 1:147,902,795...147,909,269
Ensembl chr 1:147,902,795...147,909,269
JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:25741868 PMID:27108798 PMID:32499604 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,840
JBrowse link
G LINC01389 long intergenic non-protein coding RNA 1389 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:16826526 PMID:20361012 PMID:32499604 NCBI chr 1:47,380,796...47,437,317
Ensembl chr 1:47,380,928...47,408,477
JBrowse link
G PAX6 paired box 6 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis ClinVar PMID:24281366 PMID:32499604 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
JBrowse link
G PITX2 paired like homeodomain 2 IAGP ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar Annotator: match by term: Anterior segment ocular dysgenesis
ClinVar Annotator: match by term: Anterior segment mesenchymal dysgenesis
ClinVar PMID:7581385 PMID:9437321 PMID:15378534 PMID:15591271 PMID:25741868 PMID:26220699 PMID:28492532 PMID:32499604 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
G PITX3 paired like homeodomain 3 IAGP
EXP
DNA:insertion:exon:c.657ins17bp
CTD Direct Evidence: marker/mechanism
CTD PMID:9620774 PMID:18989383, PMID:18989383 RGD:11535067 NCBI chr10:102,230,189...102,241,512
Ensembl chr10:102,230,186...102,241,512
JBrowse link
G PXDN peroxidasin EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anterior segment dysgenesis
ClinVar Annotator: match by term: Anterior segment ocular dysgenesis
CTD
ClinVar
PMID:32499604 NCBI chr 2:1,631,887...1,744,852
Ensembl chr 2:1,631,887...1,744,852
JBrowse link
G TSC1 TSC complex subunit 1 ISS MouseDO NCBI chr 9:132,891,349...132,945,269
Ensembl chr 9:132,891,348...132,946,874
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 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis 1 ClinVar PMID:17893665 PMID:27218149 PMID:28492532 NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052
JBrowse link
G LINC01389 long intergenic non-protein coding RNA 1389 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis 1 ClinVar PMID:17893665 PMID:27218149 PMID:28492532 NCBI chr 1:47,380,796...47,437,317
Ensembl chr 1:47,380,928...47,408,477
JBrowse link
G PITX2 paired like homeodomain 2 IAGP ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1 ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
G PITX3 paired like homeodomain 3 IAGP ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES
ClinVar Annotator: match by term: Anterior segment dysgenesis 1
ClinVar
OMIM
PMID:6801987 PMID:9620774 PMID:10361984 PMID:15286169 PMID:17888164 PMID:18989383 PMID:21836522 PMID:24555714 PMID:28492532 NCBI chr10:102,230,189...102,241,512
Ensembl chr10:102,230,186...102,241,512
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 IAGP OMIM NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052
JBrowse link
anterior segment dysgenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC1 forkhead box C1 IAGP ClinVar Annotator: match by term: Iridogoniodysgenesis type1
ClinVar Annotator: match by term: Anterior segment dysgenesis 3
ClinVar
OMIM
PMID:9620769 PMID:9792859 PMID:11007653 PMID:11170889 PMID:12036988 PMID:19668217 PMID:19793056 PMID:25741868 PMID:28492532 PMID:32832252 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
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 IAGP
EXP
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 4
ClinVar Annotator: match by term: Anterior segment dysgenesis 4
ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Iridogoniodysgenesis, dominant type
ClinVar
CTD
OMIM
PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 PMID:25741868 PMID:28492532 PMID:32499604 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
anterior segment dysgenesis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 IAGP ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:10655546 PMID:11403040 PMID:11774072 PMID:11980847 PMID:12036985 PMID:14507861 PMID:16688110 PMID:16735991 PMID:16735994 PMID:17563717 PMID:17591938 PMID:17718864 PMID:18622259 PMID:19204079 PMID:19236111 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:21081970 PMID:21168818 PMID:22004014 PMID:23028769 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25741868 PMID:25978063 PMID:27243976 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27820421 PMID:28384041 PMID:28492532 PMID:28620713 PMID:29556725 PMID:30653986 PMID:30788381 PMID:32499604 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 IAGP ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar NCBI chr11:31,509,767...31,790,324
Ensembl chr11:31,509,755...31,790,324
JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 IAGP ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:21931569 PMID:26893459 NCBI chr 9:14,734,666...14,911,653
Ensembl chr 9:14,734,666...14,910,995
Ensembl chr 9:14,734,666...14,910,995
JBrowse link
G LOC106014249 PAX6 upstream regulatory region IAGP ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar NCBI chr11:31,811,105...31,827,240 JBrowse link
G PAX6 paired box 6 IAGP ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE TYPES
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE
OMIM
ClinVar
PMID:1251879 PMID:1954207 PMID:6988567 PMID:9651515 PMID:10441571 PMID:14561779 PMID:25741868 PMID:28492532 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
JBrowse link
G PITX2 paired like homeodomain 2 IAGP ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
anterior segment dysgenesis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 IAGP ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar Annotator: match by term: Anterior segment dysgenesis 6
ClinVar
OMIM
PMID:11403040 PMID:12036985 PMID:19643970 PMID:22004014 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24281366 PMID:25741868 PMID:27820421 PMID:28492532 PMID:32499604 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
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 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis 7 ClinVar
OMIM
PMID:21474777 PMID:21907015 PMID:24939590 PMID:25741868 PMID:26694549 PMID:28492532 NCBI chr 2:1,631,887...1,744,852
Ensembl chr 2:1,631,887...1,744,852
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 IAGP ClinVar Annotator: match by term: Anterior segment dysgenesis 8 ClinVar
OMIM
PMID:27839872 PMID:32499604 NCBI chr19:16,892,951...17,026,818
Ensembl chr19:16,892,951...17,026,815
Ensembl chr19:16,892,951...17,026,815
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 IAGP
EXP
ClinVar Annotator: match by term: Arhinia choanal atresia microphthalmia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ARHINIA, CHOANAL ATRESIA, MICROPHTHALMIA, AND HYPOGONADOTROPIC HYPOGONADISM
ClinVar
OMIM
CTD
PMID:672092 PMID:5032329 PMID:6802865 PMID:8446727 PMID:8723126 PMID:11321738 PMID:16353241 PMID:23143600 PMID:23432817 PMID:23852095 PMID:25741868 PMID:26440771 PMID:26842768 PMID:28067909 PMID:28067911 NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,738...2,805,017
Ensembl chr18:2,655,738...2,805,017
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 IAGP ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant OMIM
ClinVar
PMID:2005308 PMID:3495735 PMID:3536967 PMID:4750422 PMID:7738200 PMID:7802039 PMID:7870075 PMID:8004112 PMID:8136837 PMID:8188302 PMID:8281141 PMID:8430317 PMID:8563763 PMID:8653794 PMID:8723076 PMID:8941093 PMID:8988160 PMID:9150726 PMID:9338581 PMID:9338588 PMID:9399842 PMID:9401003 PMID:9817919 PMID:9837823 PMID:9876915 PMID:10189222 PMID:10229672 PMID:10464652 PMID:10486319 PMID:10533071 PMID:10633129 PMID:10679954 PMID:10694921 PMID:10930463 PMID:11068200 PMID:11139245 PMID:11524736 PMID:11700157 PMID:11748851 PMID:11780406 PMID:11826022 PMID:11875032 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12161601 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12651868 PMID:12938084 PMID:14598350 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15598221 PMID:15880509 PMID:16220557 PMID:16222657 PMID:16273536 PMID:16333834 PMID:16342915 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16835936 PMID:16905551 PMID:16971892 PMID:17253931 PMID:17418587 PMID:17503327 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17701892 PMID:17718856 PMID:18079676 PMID:18087243 PMID:18310266 PMID:18435798 PMID:18615205 PMID:19012347 PMID:19059503 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19349279 PMID:19353630 PMID:19370756 PMID:19396033 PMID:19533785 PMID:19618372 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20200614 PMID:20375004 PMID:20564469 PMID:20591885 PMID:20979188 PMID:21542060 PMID:21594992 PMID:21594993 PMID:21683322 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22539873 PMID:22772377 PMID:23133647 PMID:23278365 PMID:23506379 PMID:23577066 PMID:23590259 PMID:23608731 PMID:23653584 PMID:23684891 PMID:23719250 PMID:23794388 PMID:23897642 PMID:24033266 PMID:24039054 PMID:24055113 PMID:24161884 PMID:24311428 PMID:24564502 PMID:24635535 PMID:24665001 PMID:24740214 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25203624 PMID:25326635 PMID:25504618 PMID:25519456 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25736269 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25900864 PMID:25907466 PMID:25944730 PMID:25979247 PMID:26026792 PMID:26188975 PMID:26272055 PMID:26332594 PMID:26333736 PMID:26498160 PMID:26621581 PMID:26684006 PMID:26787436 PMID:26875674 PMID:27112580 PMID:27146836 PMID:27153395 PMID:27353645 PMID:27437668 PMID:27582083 PMID:27611364 PMID:27930701 PMID:28050602 PMID:28098115 PMID:28254189 PMID:28492532 PMID:28497567 PMID:28539832 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28941062 PMID:28973303 PMID:29168297 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29848614 PMID:29907982 PMID:30341550 PMID:30675029 PMID:30739908 PMID:31008308 PMID:31163209 PMID:31211626 PMID:31506931 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,306...48,645,849
Ensembl chr15:48,408,306...48,645,849
JBrowse link
G LOC113939944 Sharpr-MPRA regulatory region 9539 IAGP ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant ClinVar PMID:17253931 PMID:17663468 PMID:24033266 PMID:24311428 PMID:24941995 PMID:25637381 PMID:25741868 PMID:25812041 PMID:26332594 PMID:26684006 PMID:28254189 PMID:28492532 PMID:29357934 PMID:31008308 NCBI chr15:48,520,532...48,520,826 JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant ClinVar PMID:23218701 PMID:23401661 PMID:28492532 NCBI chr14:74,498,183...74,612,593
Ensembl chr14:74,498,183...74,612,378
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 IAGP ClinVar Annotator: match by term: Ectopia lentis, isolated autosomal recessive
ClinVar Annotator: match by term: Ectopia lentis 2, isolated, autosomal recessive
ClinVar
OMIM
PMID:2056446 PMID:2377351 PMID:19200529 PMID:20141359 PMID:20564469 PMID:20702823 PMID:21051722 PMID:22736615 PMID:22871183 PMID:24033266 PMID:25741868 PMID:25975359 PMID:28492532 PMID:28642162 NCBI chr 1:150,549,378...150,560,937
Ensembl chr 1:150,549,369...150,560,937
JBrowse link
G ADAMTSL4-AS2 ADAMTSL4 antisense RNA 2 IAGP ClinVar Annotator: match by term: Ectopia lentis, isolated autosomal recessive
ClinVar Annotator: match by term: Ectopia lentis 2, isolated, autosomal recessive
ClinVar PMID:2056446 PMID:20141359 PMID:20564469 PMID:20702823 PMID:21051722 PMID:22736615 PMID:22871183 PMID:24033266 PMID:25741868 PMID:25975359 PMID:28492532 PMID:28642162 NCBI chr 1:150,548,564...150,556,700 JBrowse link
Axenfeld-Rieger syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST5 carbohydrate sulfotransferase 5 IAGP ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:26893459 NCBI chr16:75,528,530...75,536,108
Ensembl chr16:75,528,535...75,535,247
JBrowse link
G COL4A1 collagen type IV alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:17696175 PMID:20385946 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157
JBrowse link
G DACT1 dishevelled binding antagonist of beta catenin 1 IAGP ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:26893459 NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321
JBrowse link
G FOXC1 forkhead box C1 IAGP DNA:mutation:cds:272T>C,p.I91T(human)
DNA:mutation:cds:p.Q120X(human)
DNA:mutation:cds:p.F112S(human)
RGD PMID:15477465, PMID:18498376, PMID:12614756 RGD:12904042, RGD:12904045, RGD:12904044 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:26893459 NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 IAGP ClinVar Annotator: match by term: Iridogoniodysgenesis with somatic anomalies ClinVar PMID:21931569 PMID:26893459 NCBI chr 9:14,734,666...14,911,653
Ensembl chr 9:14,734,666...14,910,995
Ensembl chr 9:14,734,666...14,910,995
JBrowse link
G PITX2 paired like homeodomain 2 IAGP DNA:point mutation:exon:p.W86C (c.840G>T) (human)
ClinVar Annotator: match by term: Rieger syndrome
ClinVar Annotator: match by term: Axenfeld-Rieger Syndrome
DNA:missense mutation: :p.G137V (g.20913G>T) (human)
ClinVar PMID:25741868, PMID:19052653, PMID:16876867 RGD:12910558, RGD:12910560 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:26893459 PMID:28492532 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC1 forkhead box C1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
JBrowse link
G HMGN2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 1:26,472,440...26,476,642
Ensembl chr 1:26,472,440...26,476,642
JBrowse link
G PAX6 paired box 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
JBrowse link
G PITX2 paired like homeodomain 2 IAGP
EXP
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:8944018 PMID:9685346 PMID:10490637 PMID:10502778 PMID:10644443 PMID:11301317 PMID:11487566 PMID:12612071 PMID:14623826 PMID:14630904 PMID:15378534 PMID:15728254 PMID:15895993 PMID:16498627 PMID:18045789 PMID:18723525 PMID:19052653 PMID:20881294 PMID:22569110 PMID:25741868 PMID:26220699 PMID:28492532 PMID:29100920 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
G PRDM5 PR/SET domain 5 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:120,684,906...120,922,849
Ensembl chr 4:120,684,919...120,922,870
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 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr21:45,074,578...45,226,563
Ensembl chr21:45,073,853...45,226,560
JBrowse link
G BMP4 bone morphogenetic protein 4 ISS OMIM:602482 MouseDO NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G C21orf58 chromosome 21 open reading frame 58 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr21:46,300,426...46,324,046
Ensembl chr21:46,300,181...46,323,875
JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720
JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,769...46,005,050
Ensembl chr21:45,981,769...46,005,050
JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr21:46,098,071...46,132,849
Ensembl chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
JBrowse link
G DIP2A disco interacting protein 2 homolog A IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr21:46,458,891...46,571,226
Ensembl chr21:46,458,891...46,570,015
JBrowse link
G FAM207A family with sequence similarity 207 member A IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr21:44,939,697...44,976,976
Ensembl chr21:44,940,012...44,976,989
JBrowse link
G FOXC1 forkhead box C1 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar
OMIM
PMID:9326342 PMID:9620769 PMID:9792859 PMID:10713890 PMID:11170889 PMID:11589884 PMID:11740218 PMID:11782474 PMID:12592227 PMID:12614756 PMID:14506133 PMID:16638984 PMID:16936096 PMID:17197537 PMID:17210863 PMID:18498376 PMID:19668217 PMID:19793056 PMID:20881294 PMID:22382802 PMID:23239455 PMID:24914578 PMID:25741868 PMID:25786029 PMID:25967385 PMID:27124303 PMID:28432732 PMID:28492532 PMID:28513611 PMID:28979898 PMID:30457409 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
JBrowse link
G FTCD formimidoyltransferase cyclodeaminase IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr21:46,135,981...46,156,482
Ensembl chr21:46,136,262...46,155,579
JBrowse link
G LINC00163 long intergenic non-protein coding RNA 163 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr21:44,989,864...44,994,086
Ensembl chr21:44,989,864...44,994,086
JBrowse link
G LINC00315 long intergenic non-protein coding RNA 315 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 Ensembl chr21:45,300,245...45,305,257 JBrowse link
G LINC00334 long intergenic non-protein coding RNA 334 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr21:45,234,340...45,258,730
Ensembl chr21:45,234,308...45,264,548
JBrowse link
G LSS lanosterol synthase IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824
JBrowse link
G MCM3AP minichromosome maintenance complex component 3 associated protein IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr21:46,235,130...46,286,297
Ensembl chr21:46,235,133...46,286,297
JBrowse link
G PCBP3 poly(rC) binding protein 3 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr21:45,643,725...45,942,454
Ensembl chr21:45,643,694...45,942,454
JBrowse link
G PCNT pericentrin IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr21:46,324,122...46,445,769
Ensembl chr21:46,324,141...46,445,769
JBrowse link
G PITX2 paired like homeodomain 2 IAGP ClinVar Annotator: match by term: Anterior segment mesenchymal dysgenesis ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
G POFUT2 protein O-fucosyltransferase 2 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr21:45,263,928...45,287,914
Ensembl chr21:45,263,928...45,287,898
JBrowse link
G PRMT2 protein arginine methyltransferase 2 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr21:46,635,156...46,665,685
Ensembl chr21:46,635,595...46,665,124
JBrowse link
G S100B S100 calcium binding protein B IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr21:46,598,604...46,605,243
Ensembl chr21:46,598,604...46,605,208
JBrowse link
G SLC19A1 solute carrier family 19 member 1 IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr21:45,502,517...45,563,140
Ensembl chr21:45,493,572...45,573,365
JBrowse link
G SPATC1L spermatogenesis and centriole associated 1 like IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr21:46,161,148...46,185,163
Ensembl chr21:46,161,148...46,184,476
JBrowse link
G YBEY ybeY metalloendoribonuclease IAGP ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr21:46,286,056...46,314,188
Ensembl chr21:46,286,342...46,297,751
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 IEA
IAGP
OMIM:243310 | OMIM:614583
ClinVar Annotator: match by term: Cerebrofrontofacial syndrome
ClinVar Annotator: match by term: Baraitser-Winter syndrome
MouseDO
ClinVar
PMID:12325076 PMID:16685646 PMID:22366783 PMID:25052316 PMID:25741868 PMID:28492532 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
Ensembl chr 7:5,526,409...5,563,902
JBrowse link
G ACTG1 actin gamma 1 IEA OMIM:243310 | OMIM:614583 MouseDO NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,971...81,523,847
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 IAGP ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation
ClinVar Annotator: match by term: Baraitser-Winter syndrome 1
ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME
ClinVar
OMIM
PMID:1415343 PMID:10327243 PMID:10411937 PMID:10928857 PMID:11311002 PMID:12325076 PMID:16685646 PMID:18414213 PMID:22366783 PMID:23649928 PMID:23756437 PMID:24033266 PMID:25052316 PMID:25156961 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29220674 PMID:29261186 PMID:32860008 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
Ensembl chr 7:5,526,409...5,563,902
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 IAGP ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 ClinVar
OMIM
PMID:3351890 PMID:18414213 PMID:22366783 PMID:24033266 PMID:25052316 PMID:25741868 NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,971...81,523,847
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 IAGP ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome ClinVar
OMIM
PMID:25488817 PMID:25741868 PMID:25792360 PMID:28492532 PMID:30039206 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383
Ensembl chr19:49,818,282...49,840,383
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 IAGP ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:23806086 PMID:24088041 PMID:24674232 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 IAGP ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:25741868 NCBI chr  X:53,532,096...53,686,723
Ensembl chr  X:53,532,096...53,686,728
JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:25741868 NCBI chr10:74,824,927...75,032,624
Ensembl chr10:74,824,927...75,032,624
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:25741868 NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624
JBrowse link
G SNX9 sorting nexin 9 IAGP ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:24674232 NCBI chr 6:157,716,046...157,945,077
Ensembl chr 6:157,700,387...157,945,077
JBrowse link
G TMEM242 transmembrane protein 242 IAGP ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:24674232 NCBI chr 6:157,289,025...157,323,519
Ensembl chr 6:157,289,025...157,323,601
Ensembl chr 6:157,289,025...157,323,601
JBrowse link
G ZDHHC14 zinc finger DHHC-type palmitoyltransferase 14 IAGP ClinVar Annotator: match by term: Blepharophimosis ClinVar PMID:24674232 NCBI chr 6:157,381,190...157,678,157
Ensembl chr 6:157,381,133...157,678,157
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 IAGP
EXP
ClinVar Annotator: match by term: Blepharophimosis syndrome type 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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 chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137
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 IAGP 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 chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137
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 IAGP ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr 3:139,355,595...139,389,680
Ensembl chr 3:139,355,600...139,389,680
Ensembl chr 3:139,355,600...139,389,680
JBrowse link
G FOXL2 forkhead box L2 IAGP
EXP
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus
ClinVar Annotator: match by term: BPES with Duane retraction syndrome
ClinVar Annotator: match by term: BPES with ovarian failure
ClinVar Annotator: match by term: BPES without ovarian failure
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:19429596 PMID:25741868, PMID:11175783 RGD:1598958 NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137
JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 IAGP ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,357,223
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 IAGP 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 chr10:75,026,427...75,073,827
Ensembl chr10:75,037,836...75,058,514
JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type
ClinVar Annotator: match by term: Young Simpson syndrome
ClinVar
OMIM
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23436491 PMID:25326637 PMID:25424711 PMID:25741868 PMID:26334766 PMID:26938784 PMID:27696664 PMID:28758091 PMID:30353918, PMID:22077973 RGD:9588484 NCBI chr10:74,824,927...75,032,624
Ensembl chr10:74,824,927...75,032,624
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 IAGP ClinVar Annotator: match by term: Brittle cornea syndrome 1
ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIB
ClinVar PMID:9084938 PMID:10766984 PMID:11370633 PMID:12508273 PMID:16158441 PMID:20004762 PMID:20503305 PMID:20533528 PMID:20842734 PMID:21744491 PMID:25741868 PMID:26373698 PMID:26872206 PMID:26925854 PMID:28238810 NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,998...40,474,571
Ensembl chr15:40,470,998...40,474,571
JBrowse link
G PRDM5 PR/SET domain 5 IAGP 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 chr 4:120,684,906...120,922,849
Ensembl chr 4:120,684,919...120,922,870
JBrowse link
G ZNF469 zinc finger protein 469 IAGP
EXP
ClinVar Annotator: match by term: BRITTLE CORNEA SYNDROME 1
ClinVar Annotator: match by term: Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
ClinVar Annotator: match by term: Brittle cornea syndrome 1
ClinVar Annotator: match by term: DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:5755738 PMID:7387950 PMID:18452888 PMID:19661234 PMID:20938016 PMID:25741868 NCBI chr16:88,382,959...88,440,753
Ensembl chr16:88,382,989...88,440,757
Ensembl chr16:88,382,989...88,440,757
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 IAGP ClinVar Annotator: match by term: Brittle cornea syndrome 2 ClinVar
OMIM
PMID:8458232 PMID:21664999 PMID:22122778 PMID:25741868 PMID:26395458 PMID:28492532 NCBI chr 4:120,684,906...120,922,849
Ensembl chr 4:120,684,919...120,922,870
JBrowse link
buphthalmos term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 susceptibility ISO
IAGP
ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A
ClinVar Annotator: match by term: Glaucoma, congenital
ClinVar Annotator: match by term: Glaucoma, primary open angle, juvenile-onset
ClinVar Annotator: match by term: Congenital glaucoma
DNA:missense mutation:cds:p.A388T (human)
DNA:missense mutation, deletion:exon:p.R390H, g.4633delC (human)
DNA:duplication:exon:g.1546-1555dupTCATGCCACC (human)
DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N (human)
DNA:missense mutations:exons:p.G61E, p.R469W, p.R523K (human)
DNA:deletion, snp:exons:g.4339delG, p.G61E (human)
DNA:snp:cds:p.E387K (human)
DNA:polymorphisms:multiple (human)
ClinVar
OMIM
PMID:9097971 PMID:9463332 PMID:9497261 PMID:10227395 PMID:10426814 PMID:10655546 PMID:10739169 PMID:10910054 PMID:11403040 PMID:11527932 PMID:11558822 PMID:11774072 PMID:11854439 PMID:11980847 PMID:12036985 PMID:12372064 PMID:14507861 PMID:15037581 PMID:15255109 PMID:15342693 PMID:16384942 PMID:16688110 PMID:16735991 PMID:16735994 PMID:16862072 PMID:17164573 PMID:17363580 PMID:17563717 PMID:17591938 PMID:17718864 PMID:18227148 PMID:18414103 PMID:18470941 PMID:18537981 PMID:18622259 PMID:18852424 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19247456 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:19807744 PMID:20151268 PMID:20198978 PMID:20664688 PMID:21081970 PMID:21168818 PMID:21600657 PMID:21815720 PMID:21850185 PMID:21854771 PMID:22004014 PMID:22128238 PMID:22942166 PMID:23028769 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24281366 PMID:24940937 PMID:25091052 PMID:25109919 PMID:25333069 PMID:25527694 PMID:25646030 PMID:25741868 PMID:25950505 PMID:25978063 PMID:26550974 PMID:27060699 PMID:27243976 PMID:27272408 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27777502 PMID:27820421 PMID:28192799 PMID:28384041 PMID:28448622 PMID:28492532 PMID:28620713 PMID:29556725 PMID:30653986 PMID:30788381 PMID:32499604 PMID:32832252 PMID:32860008 PMID:94927261, PMID:12624268, PMID:16490498, PMID:19247456, PMID:12567107, PMID:19597567, PMID:19593207, PMID:20664688, PMID:10227395, PMID:23922489 RGD:734869, RGD:7800719, RGD:7800711, RGD:7800707, RGD:7800689, RGD:7800688, RGD:7800680, RGD:7800670, RGD:7800657 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
JBrowse link
G FOXC1 forkhead box C1 ISS OMIM:231300 MouseDO NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP ClinVar Annotator: match by term: Glaucoma, congenital ClinVar PMID:19656777 NCBI chr14:74,498,183...74,612,593
Ensembl chr14:74,498,183...74,612,378
JBrowse link
G MYOC myocilin IAGP ClinVar Annotator: match by term: Glaucoma 3, primary congenital, a, digenic ClinVar PMID:12447164 PMID:15025728 PMID:15723004 PMID:15733270 PMID:16288197 PMID:17563717 PMID:22194650 PMID:22736945 NCBI chr 1:171,635,417...171,652,688
Ensembl chr 1:171,635,417...171,652,688
JBrowse link
G RMDN2 regulator of microtubule dynamics 2 IAGP ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A ClinVar NCBI chr 2:37,920,789...38,069,246
Ensembl chr 2:37,923,187...38,067,142
JBrowse link
G TYR tyrosinase ISS OMIM:231300 MouseDO NCBI chr11:89,177,565...89,295,759
Ensembl chr11:89,177,875...89,295,759
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 IAGP ClinVar Annotator: match by term: Cataract 40
ClinVar Annotator: match by term: CATARACT 40 WITH OR WITHOUT MICROCORNEA
ClinVar
OMIM
PMID:19414485 PMID:25741868 NCBI chr  X:17,375,200...17,735,994
Ensembl chr  X:17,375,200...17,735,994
Ensembl chr  X:17,375,200...17,735,994
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 IAGP ClinVar Annotator: match by term: Cerebral-cerebellar-coloboma syndrome, X-linked ClinVar PMID:23176820 PMID:25326635 PMID:25741868 PMID:25744623 PMID:26609730 PMID:27030146 PMID:28492532 PMID:29389947 NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170
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 IAGP ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome
ClinVar Annotator: match by term: CHIME syndrome
ClinVar Annotator: match by term: Zunich neuroectodermal syndrome
ClinVar
OMIM
PMID:3041916 PMID:7666399 PMID:8893234 PMID:18414213 PMID:22444671 PMID:23561846 PMID:24784135 PMID:25250048 PMID:25741868 PMID:28371479 PMID:28492532 NCBI chr17:16,217,209...16,351,800
Ensembl chr17:16,217,191...16,351,797
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 IAGP ClinVar Annotator: match by term: Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia ClinVar
OMIM
PMID:16001442 PMID:20181727 PMID:25741868 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982
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 IAGP ClinVar Annotator: match by term: 11p deletion syndrome ClinVar NCBI chr11:31,509,767...31,790,324
Ensembl chr11:31,509,755...31,790,324
JBrowse link
G LOC106014249 PAX6 upstream regulatory region IAGP ClinVar Annotator: match by term: 11p deletion syndrome ClinVar NCBI chr11:31,811,105...31,827,240 JBrowse link
G PAX6 paired box 6 IAGP ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
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 IAGP ClinVar Annotator: match by term: Joubert syndrome with ocular defect ClinVar PMID:16453322 PMID:18054307 PMID:21623382 PMID:21937992 PMID:25525159 PMID:25741868 PMID:26092869 PMID:28492532 NCBI chr 6:135,283,532...135,497,771
Ensembl chr 6:135,283,532...135,497,765
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP ClinVar Annotator: match by term: COACH syndrome
ClinVar Annotator: match by term: Joubert syndrome with hepatic defect
ClinVar PMID:18414213 PMID:18950740 PMID:19574260 PMID:19777577 PMID:22241855 PMID:22246503 PMID:25741868 PMID:26092869 PMID:27081510 PMID:27082236 PMID:28492532 NCBI chr 4:15,468,660...15,601,557
Ensembl chr 4:15,469,865...15,601,552
Ensembl chr 4:15,469,865...15,601,552
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP 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 chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link
G TMEM67 transmembrane protein 67 IAGP
EXP
DNA:missense mutations: :multiple
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
ClinVar Annotator: match by term: CEREBELLAR VERMIS HYPO/APLASIA, OLIGOPHRENIA, CONGENITAL ATAXIA, OCULAR COLOBOMA, AND HEPATIC FIBROSIS
ClinVar Annotator: match by term: COACH syndrome
ClinVar
CTD
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, PMID:19058225, PMID:19574260 RGD:11535944, RGD:11535946 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
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 IAGP ClinVar Annotator: match by term: COACH SYNDROME 1 ClinVar PMID:18950740 PMID:22241855 PMID:25741868 PMID:26092869 PMID:27081510 PMID:27082236 PMID:28492532 NCBI chr 4:15,468,660...15,601,557
Ensembl chr 4:15,469,865...15,601,552
Ensembl chr 4:15,469,865...15,601,552
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP ClinVar Annotator: match by term: COACH SYNDROME 1 ClinVar PMID:17558409 PMID:25741868 PMID:28492532 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link
G TMEM67 transmembrane protein 67 IAGP ClinVar Annotator: match by term: COACH SYNDROME 1 OMIM
ClinVar
PMID:17397051 PMID:18414213 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28492532 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
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 IAGP ClinVar Annotator: match by term: COACH SYNDROME 2 OMIM
ClinVar
PMID:18950740 PMID:19574260 PMID:19777577 PMID:22246503 PMID:25741868 PMID:26092869 PMID:28492532 NCBI chr 4:15,468,660...15,601,557
Ensembl chr 4:15,469,865...15,601,552
Ensembl chr 4:15,469,865...15,601,552
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 IAGP ClinVar Annotator: match by term: COACH SYNDROME 3 OMIM
ClinVar
PMID:19574260 PMID:26092869 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
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 IAGP ClinVar Annotator: match by term: CODAS syndrome ClinVar PMID:25741868 NCBI chr19:5,720,156...5,778,734
Ensembl chr19:5,720,637...5,778,734
JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP ClinVar Annotator: match by term: CODAS syndrome ClinVar
OMIM
PMID:1887855 PMID:25574826 PMID:25741868 PMID:25741869 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
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 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cole-Carpenter syndrome
CTD
ClinVar
PMID:25741868 NCBI chr17:81,843,159...81,860,535
Ensembl chr17:81,843,161...81,860,624
JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:118,722,823...118,838,683
Ensembl chr 4:118,722,823...118,838,683
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 IAGP ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 ClinVar
OMIM
PMID:25683117 PMID:25741868 NCBI chr17:81,843,159...81,860,535
Ensembl chr17:81,843,161...81,860,624
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 IAGP ClinVar Annotator: match by term: Cole-carpenter syndrome 2
ClinVar Annotator: match by term: Cole-Carpenter syndrome 2
ClinVar
OMIM
PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:30462379 NCBI chr 4:118,722,823...118,838,683
Ensembl chr 4:118,722,823...118,838,683
JBrowse link
coloboma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:22366783 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
Ensembl chr 7:5,526,409...5,563,902
JBrowse link
G ACTG1 actin gamma 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22366783 NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,971...81,523,847
JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25004007 NCBI chr 5:126,541,841...126,595,219
Ensembl chr 5:126,531,200...126,595,362
JBrowse link
G BFSP1 beaded filament structural protein 1 IAGP ClinVar Annotator: match by term: Ocular coloboma ClinVar PMID:24281366 PMID:28492532 NCBI chr20:17,493,905...17,569,220
Ensembl chr20:17,493,905...17,569,220
JBrowse link
G CAPN15 calpain 15 IAGP ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:25741868 NCBI chr16:527,712...554,636
Ensembl chr16:527,712...554,636
JBrowse link
G CDK5RAP2 CDK5 regulatory subunit associated protein 2 IAGP ClinVar Annotator: match by term: Coloboma ClinVar NCBI chr 9:120,388,875...120,580,167
Ensembl chr 9:120,388,869...120,580,170
JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar NCBI chr11:125,956,813...126,063,335
Ensembl chr11:125,955,796...126,063,335
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 IAGP ClinVar Annotator: match by term: Congenital ocular coloboma
ClinVar Annotator: match by term: Coloboma of eye
ClinVar PMID:9097971 PMID:10655546 PMID:11558822 PMID:11774072 PMID:11980847 PMID:14507861 PMID:15342693 PMID:16688110 PMID:16735991 PMID:16735994 PMID:17563717 PMID:17591938 PMID:17718864 PMID:17893647 PMID:18470941 PMID:18622259 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:21081970 PMID:21168818 PMID:21854771 PMID:22004014 PMID:23028769 PMID:24033266 PMID:24123366 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25741868 PMID:25950505 PMID:25978063 PMID:27243976 PMID:27408750 PMID:27508083 PMID:27535533 PMID:28384041 PMID:28492532 PMID:28620713 PMID:29556725 PMID:30653986 PMID:30788381 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
JBrowse link
G FIBP FGF1 intracellular binding protein IAGP ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:26660953 NCBI chr11:65,883,740...65,888,510
Ensembl chr11:65,883,741...65,888,539
Ensembl chr11:65,883,741...65,888,539
JBrowse link
G FZD5 frizzled class receptor 5 IAGP ClinVar Annotator: match by term: Congenital ocular coloboma ClinVar PMID:25741868 PMID:26908622 NCBI chr 2:207,753,889...207,769,906
Ensembl chr 2:207,762,598...207,769,906
JBrowse link
G LAMB1 laminin subunit beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18809619 NCBI chr 7:107,923,799...108,003,176
Ensembl chr 7:107,923,799...108,003,187
Ensembl chr 7:107,923,799...108,003,187
JBrowse link
G MAB21L2 mab-21 like 2 IAGP DNA:missense mutation:cds:c.151 C>G, (p.R51G)(human) RGD PMID:25719200 RGD:11553846 NCBI chr 4:150,582,151...150,584,693
Ensembl chr 4:150,582,151...150,584,693
JBrowse link
G PAX6 paired box 6 IAGP ClinVar Annotator: match by term: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT ClinVar
OMIM
PMID:12721955 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
JBrowse link
G RBP4 retinol binding protein 4 IAGP ClinVar Annotator: match by term: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT ClinVar PMID:29178648 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
JBrowse link
G SALL2 spalt like transcription factor 2 IAGP ClinVar Annotator: match by term: Ocular coloboma, autosomal recessive ClinVar
OMIM
PMID:24412933 NCBI chr14:21,521,080...21,537,142
Ensembl chr14:21,521,080...21,537,216
JBrowse link
G SLBP stem-loop binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:30695021 NCBI chr 4:1,692,731...1,715,876
Ensembl chr 4:1,692,731...1,712,344
JBrowse link
G SLC16A12 solute carrier family 16 member 12 IAGP ClinVar Annotator: match by term: Ocular coloboma ClinVar PMID:24281366 NCBI chr10:89,430,299...89,536,029
Ensembl chr10:89,430,299...89,556,641
JBrowse link
G TMEM67 transmembrane protein 67 IAGP ClinVar Annotator: match by term: Congenital ocular coloboma
ClinVar Annotator: match by term: Coloboma of eye
ClinVar PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G WDR37 WD repeat domain 37 IAGP ClinVar Annotator: match by term: Ocular coloboma ClinVar PMID:31327508 PMID:31327510 PMID:31474318 NCBI chr10:1,056,385...1,132,372
Ensembl chr10:1,049,538...1,132,384
JBrowse link
G YAP1 Yes1 associated transcriptional regulator IAGP ClinVar Annotator: match by term: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT ClinVar PMID:24462371 NCBI chr11:102,109,957...102,233,424
Ensembl chr11:102,110,447...102,233,424
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 IAGP ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:31256877 NCBI chr12:124,946,824...124,989,131
Ensembl chr12:124,946,825...124,989,131
JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 IAGP ClinVar Annotator: match by term: Coloboma of optic disc ClinVar PMID:25741868 NCBI chr11:31,509,767...31,790,324
Ensembl chr11:31,509,755...31,790,324
JBrowse link
G PAX6 paired box 6 IAGP ClinVar Annotator: match by term: Coloboma of optic disc ClinVar
OMIM
PMID:12721955 PMID:25741868 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
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 IAGP ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM
PMID:27889061 NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,464...69,968,336
Ensembl chr 3:69,739,464...69,968,336
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 IAGP
EXP
ClinVar Annotator: match by term: Aphakia, congenital primary
ClinVar Annotator: match by term: Congenital primary aphakia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:3550563 PMID:11159941 PMID:11980846 PMID:16826526 PMID:19708017 PMID:20140963 PMID:20361012 PMID:21150893 PMID:24033266 PMID:24033328 PMID:25504734 PMID:25741868 PMID:26854927 PMID:26995144 PMID:28492532 PMID:29136273 PMID:29878917 PMID:32499604 NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052
JBrowse link
G LINC01389 long intergenic non-protein coding RNA 1389 IAGP ClinVar Annotator: match by term: Aphakia, congenital primary
ClinVar Annotator: match by term: Congenital primary aphakia
ClinVar PMID:3550563 PMID:11159941 PMID:11980846 PMID:16826526 PMID:19708017 PMID:20140963 PMID:20361012 PMID:21150893 PMID:24033266 PMID:24033328 PMID:25504734 PMID:25741868 PMID:26854927 PMID:26995144 PMID:28492532 PMID:29136273 PMID:29878917 PMID:32499604 NCBI chr 1:47,380,796...47,437,317
Ensembl chr 1:47,380,928...47,408,477
JBrowse link
Congenital Nephrotic Syndrome with or without Ocular Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP1 matrix metallopeptidase 1 ISO protein:decreased activity:kidney (mouse) RGD PMID:11014984 RGD:7207147 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,919...102,798,160
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 IAGP ClinVar Annotator: match by term: Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia ClinVar
OMIM
PMID:14556245 NCBI chr  X:70,133,447...70,166,324
Ensembl chr  X:70,133,447...70,166,324
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 IAGP ClinVar Annotator: match by term: Craniofacial anomalies and anterior segment dysgenesis syndrome ClinVar
OMIM
PMID:15051220 PMID:25741868 NCBI chr20:25,069,940...25,082,141
Ensembl chr20:25,070,885...25,082,141
Ensembl chr20:25,070,885...25,082,141
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 IAGP ClinVar Annotator: match by term: Cryptophthalmos ClinVar PMID:25741868 NCBI chr13:38,687,041...38,887,131
Ensembl chr13:38,687,077...38,887,131
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 IAGP ClinVar Annotator: match by term: Desanto-shinawi syndrome ClinVar
OMIM
PMID:25741868 PMID:26264232 PMID:26757981 PMID:29190062 NCBI chr10:28,532,772...28,623,112
Ensembl chr10:28,532,493...28,623,112
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 IAGP ClinVar Annotator: match by term: Ectopia lentis ClinVar PMID:2056446 PMID:20564469 PMID:20702823 PMID:21051722 PMID:22736615 PMID:22871183 PMID:24033266 PMID:25741868 PMID:25975359 PMID:28492532 PMID:28642162 NCBI chr 1:150,549,378...150,560,937
Ensembl chr 1:150,549,369...150,560,937
JBrowse link
G ADAMTSL4-AS1 ADAMTSL4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Ectopia lentis ClinVar NCBI chr 1:150,560,895...150,574,552
Ensembl chr 1:150,560,895...150,579,738
Ensembl chr 1:150,560,895...150,579,738
Ensembl chr 1:150,560,895...150,579,738
JBrowse link
G ADAMTSL4-AS2 ADAMTSL4 antisense RNA 2 IAGP ClinVar Annotator: match by term: Ectopia lentis ClinVar PMID:2056446 PMID:20564469 PMID:20702823 PMID:21051722 PMID:22736615 PMID:22871183 PMID:24033266 PMID:25741868 PMID:25975359 PMID:28492532 PMID:28642162 NCBI chr 1:150,548,564...150,556,700 JBrowse link
G FBN1 fibrillin 1 IAGP
EXP
DNA:missense mutation:cds:p.R240C (human)
ClinVar Annotator: match by term: Ectopia lentis
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.C587R (c.1759T>C) (human)
DNA:missense mutation:exon:p.R62C (c.184C>T) (human)
DNA:missense mutation:exon:p.G214S (G640G>A) (human)
DNA:missense mutation:exon:p.Y754C (c.2262A>G) (human)
DNA:missense mutation:exon:p.C102Y (c.305G>A) (human)
ClinVar
CTD
PMID:7611299 PMID:7870075 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:16220557 PMID:16222657 PMID:16835936 PMID:17253931 PMID:17418587 PMID:17627385 PMID:17657824 PMID:17663468 PMID:19159394 PMID:19293843 PMID:21542060 PMID:21895641 PMID:22772368 PMID:23577066 PMID:24033266 PMID:24161884 PMID:24793577 PMID:24941995 PMID:25326635 PMID:25504618 PMID:25741868 PMID:25812041 PMID:25852444 PMID:26133393 PMID:28492532 PMID:29543232 PMID:31227806, PMID:15054843, PMID:22219643, PMID:22950452, PMID:15733436, PMID:22393277, PMID:26558191, PMID:8136837 RGD:1580380, RGD:12910481, RGD:12910479, RGD:12910140, RGD:12910138, RGD:12904906, RGD:1300363 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,306...48,645,849
Ensembl chr15:48,408,306...48,645,849
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 IAGP ClinVar Annotator: match by term: Ectopia lentis et pupillae ClinVar
OMIM
PMID:2056446 PMID:20564469 PMID:20702823 PMID:21051722 PMID:22736615 PMID:22871183 PMID:24033266 PMID:25741868 PMID:25975359 PMID:28492532 PMID:28642162 NCBI chr 1:150,549,378...150,560,937
Ensembl chr 1:150,549,369...150,560,937
JBrowse link
G ADAMTSL4-AS2 ADAMTSL4 antisense RNA 2 IAGP ClinVar Annotator: match by term: Ectopia lentis et pupillae ClinVar PMID:2056446 PMID:20564469 PMID:20702823 PMID:21051722 PMID:22736615 PMID:22871183 PMID:24033266 PMID:25741868 PMID:25975359 PMID:28492532 PMID:28642162 NCBI chr 1:150,548,564...150,556,700 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 IAGP ClinVar Annotator: match by term: Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs ClinVar
OMIM
PMID:11241487 PMID:23687502 PMID:24768550 PMID:30194805 NCBI chr 8:61,500,556...61,714,609
Ensembl chr 8:61,500,556...61,714,640
JBrowse link
exudative vitreoretinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29207047 NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
JBrowse link
G FZD4 frizzled class receptor 4 ISS
IAGP
OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310
ClinVar Annotator: match by term: Familial exudative vitreoretinopathy
MouseDO
ClinVar
PMID:14507768 PMID:15035989 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395
JBrowse link
G LRP5 LDL receptor related protein 5 IAGP
EXP
ClinVar Annotator: match by term: Familial exudative vitreoretinopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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 chr11:68,298,866...68,449,275
Ensembl chr11:68,312,591...68,449,275
JBrowse link
G NDP norrin cystine knot growth factor NDP ISS OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310 MouseDO NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395
JBrowse link
G PRSS23 serine protease 23 IAGP 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 chr11:86,791,071...86,952,910
Ensembl chr11:86,791,059...86,952,910
JBrowse link
G TSPAN12 tetraspanin 12 ISS
IAGP
OMIM:133780 | OMIM:305390 | OMIM:601813 | OMIM:605750 | OMIM:613310
ClinVar Annotator: match by term: Familial exudative vitreoretinopathy
MouseDO
ClinVar
PMID:25250762 PMID:28041643 NCBI chr 7:120,787,320...120,858,337
Ensembl chr 7:120,787,320...120,858,402
JBrowse link
G ZNF408 zinc finger protein 408 IAGP ClinVar Annotator: match by term: Familial exudative vitreoretinopathy ClinVar NCBI chr11:46,701,031...46,705,912
Ensembl chr11:46,701,030...46,705,912
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 IAGP ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr11:86,374,736...86,424,908
Ensembl chr11:86,374,736...86,423,109
JBrowse link
G CCDC83 coiled-coil domain containing 83 IAGP ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr11:85,855,066...85,920,017
Ensembl chr11:85,855,101...85,920,021
JBrowse link
G CCDC89 coiled-coil domain containing 89 IAGP ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr11:85,683,848...85,686,195
Ensembl chr11:85,683,848...85,686,195
JBrowse link
G CREBZF CREB/ATF bZIP transcription factor IAGP ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr11:85,657,985...85,682,863
Ensembl chr11:85,659,708...85,682,908
Ensembl chr11:85,659,708...85,682,908
JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:28575650 NCBI chr 3:41,199,422...41,240,445
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G DLG2 discs large MAGUK scaffold protein 2 IAGP ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr11:83,455,009...85,628,535
Ensembl chr11:83,455,012...85,627,922
JBrowse link
G EED embryonic ectoderm development IAGP ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr11:86,244,753...86,285,420
Ensembl chr11:86,244,753...86,278,813
JBrowse link
G FZD4 frizzled class receptor 4 IAGP ClinVar Annotator: match by term: Exudative vitreoretinopathy 1
ClinVar Annotator: match by term: FEVR, AUTOSOMAL DOMINANT
ClinVar
OMIM
PMID:12172548 PMID:14507768 PMID:15035989 PMID:15370539 PMID:15488808 PMID:15733276 PMID:15981244 PMID:17955262 PMID:20340138 PMID:20938005 PMID:21097938 PMID:21179236 PMID:21681106 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 PMID:28492532, PMID:12172548 RGD:1598999 NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395
JBrowse link
G HIKESHI heat shock protein nuclear import factor hikeshi IAGP ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr11:86,302,229...86,345,943
Ensembl chr11:86,302,211...86,345,943
JBrowse link
G LRP5 LDL receptor related protein 5 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Exudative vitreoretinopathy 1
CTD
ClinVar
PMID:25741868 NCBI chr11:68,298,866...68,449,275
Ensembl chr11:68,312,591...68,449,275
JBrowse link
G ME3 malic enzyme 3 IAGP ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr11:86,441,108...86,674,746
Ensembl chr11:86,441,108...86,672,636
JBrowse link
G PICALM phosphatidylinositol binding clathrin assembly protein IAGP ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr11:85,957,175...86,069,860
Ensembl chr11:85,957,175...86,069,882
JBrowse link
G PRSS23 serine protease 23 IAGP 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 chr11:86,791,071...86,952,910
Ensembl chr11:86,791,059...86,952,910
JBrowse link
G SYTL2 synaptotagmin like 2 IAGP ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr11:85,694,221...85,811,182
Ensembl chr11:85,694,224...85,811,159
JBrowse link
G TMEM126A transmembrane protein 126A IAGP ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr11:85,647,967...85,656,542
Ensembl chr11:85,647,967...85,656,547
JBrowse link
G TMEM126B transmembrane protein 126B IAGP ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr11:85,628,573...85,636,540
Ensembl chr11:85,628,573...85,636,539
JBrowse link
G TMEM135 transmembrane protein 135 IAGP ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938 PMID:21681106 NCBI chr11:87,037,934...87,328,824
Ensembl chr11:87,037,844...87,328,824
JBrowse link
G ZNF408 zinc finger protein 408 IAGP ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:23716654 PMID:27316669 PMID:28492532 NCBI chr11:46,701,031...46,705,912
Ensembl chr11:46,701,030...46,705,912
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 IAGP ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, autosomal recessive
ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, autosomal dominant
ClinVar Annotator: match by term: Exudative vitreoretinopathy 4, digenic
ClinVar
OMIM
PMID:8832721 PMID:9056564 PMID:9831343 PMID:11719191 PMID:11956231 PMID:14507768 PMID:15024691 PMID:15346351 PMID:15824851 PMID:15981244 PMID:16252235 PMID:18602879 PMID:20034086 PMID:25711638 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29181528 NCBI chr11:68,298,866...68,449,275
Ensembl chr11:68,312,591...68,449,275
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 IAGP ClinVar Annotator: match by term: Exudative vitreoretinopathy 5 ClinVar
OMIM
PMID:15665352 PMID:20159111 PMID:20159112 PMID:21334594 PMID:22427576 PMID:25250762 PMID:25352738 PMID:25741868 PMID:28002565 PMID:28492532 NCBI chr 7:120,787,320...120,858,337
Ensembl chr 7:120,787,320...120,858,402
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 IAGP ClinVar Annotator: match by term: Exudative vitreoretinopathy 6 ClinVar
OMIM
PMID:6897033 PMID:23716654 PMID:25741868 PMID:29982478 NCBI chr11:46,701,031...46,705,912
Ensembl chr11:46,701,030...46,705,912
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 IAGP ClinVar Annotator: match by term: EXUDATIVE VITREORETINOPATHY 7
ClinVar Annotator: match by term: Exudative vitreoretinopathy 7
ClinVar
OMIM
PMID:28575650 NCBI chr 3:41,199,422...41,240,445
Ensembl chr 3:41,194,741...41,260,096
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 IAGP ClinVar Annotator: match by term: Foveal hypoplasia and anterior segment dysgenesis
ClinVar Annotator: match by term: Foveal hypoplasia 2
ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM
ClinVar Annotator: match by term: Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis
ClinVar
OMIM
PMID:19590516 PMID:24045842 PMID:24290379 PMID:25741868 NCBI chr16:84,009,667...84,043,372
Ensembl chr16:84,009,667...84,042,795
Ensembl chr16:84,009,667...84,042,795
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17163535 NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 ISS OMIM:219000 MouseDO NCBI chr 9:14,734,666...14,911,653
Ensembl chr 9:14,734,666...14,910,995
Ensembl chr 9:14,734,666...14,910,995
JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17163535 NCBI chr13:38,687,041...38,887,131
Ensembl chr13:38,687,077...38,887,131
JBrowse link
G GRIP1 glutamate receptor interacting protein 1 ISS OMIM:219000 MouseDO NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162
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 IAGP DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Fraser syndrome 1
ClinVar Annotator: match by term: Cryptophthalmos syndrome
ClinVar Annotator: match by term: FRASER SYNDROME 1
ClinVar
OMIM
PMID:12766769 PMID:16894541 PMID:17163535 PMID:18671281 PMID:21900877 PMID:22029163 PMID:23532946 PMID:24476948 PMID:24551978 PMID:24583203 PMID:24700879 PMID:25353622 PMID:25741868 PMID:26893459 PMID:27280866 PMID:28492532 PMID:31319225, PMID:12766769 RGD:1598960 NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 IAGP ClinVar Annotator: match by term: FRASER SYNDROME 1
ClinVar Annotator: match by term: Fraser syndrome 1
ClinVar PMID:25741868 PMID:26275891 PMID:28492532 NCBI chr13:38,687,041...38,887,131
Ensembl chr13:38,687,077...38,887,131
JBrowse link
G GRIP1 glutamate receptor interacting protein 1 IAGP ClinVar Annotator: match by term: FRASER SYNDROME 1
ClinVar Annotator: match by term: Cryptophthalmos syndrome
ClinVar PMID:25741868 PMID:28492532 NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162
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
IAGP
ClinVar Annotator: match by term: FRASER SYNDROME 2 ClinVar
OMIM
PMID:15838507 PMID:18203166 PMID:18671281 PMID:24115501 PMID:25741868 PMID:26275891 PMID:28492532 PMID:29688405 PMID:30802441, PMID:21756877 RGD:13464328 NCBI chr13:38,687,041...38,887,131
Ensembl chr13:38,687,077...38,887,131
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 IAGP ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr10:70,672,506...70,762,441
Ensembl chr10:70,672,506...70,762,441
JBrowse link
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 IAGP ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr17:6,423,738...6,435,121
Ensembl chr17:6,393,693...6,435,199
JBrowse link
G ASPA aspartoacylase IAGP ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr17:3,473,646...3,503,405
Ensembl chr17:3,472,374...3,503,405
JBrowse link
G BCLAF1 BCL2 associated transcription factor 1 IAGP ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 6:136,256,627...136,289,846
Ensembl chr 6:136,256,627...136,289,851
JBrowse link
G BORCS6 BLOC-1 related complex subunit 6 IAGP ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr17:8,188,345...8,190,180
Ensembl chr17:8,188,345...8,190,180
JBrowse link
G GNB5 G protein subunit beta 5 IAGP ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr15:52,115,100...52,191,392
Ensembl chr15:52,115,105...52,191,369
Ensembl chr15:52,115,105...52,191,369
JBrowse link
G GRIP1 glutamate receptor interacting protein 1 IAGP ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar
OMIM
PMID:21383172 PMID:22510445 PMID:24033266 PMID:25741868 PMID:26539891 PMID:28492532 NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162
JBrowse link
G LSM10 LSM10, U7 small nuclear RNA associated IAGP ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 1:36,393,436...36,397,908
Ensembl chr 1:36,391,238...36,397,908
JBrowse link
G MED23 mediator complex subunit 23 IAGP ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 6:131,573,966...131,628,313
Ensembl chr 6:131,573,966...131,628,242
JBrowse link
G MPC1 mitochondrial pyruvate carrier 1 IAGP ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr 6:166,364,919...166,382,940
Ensembl chr 6:166,364,919...166,383,013
JBrowse link
G MYO18B myosin XVIIIB IAGP ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr22:25,742,133...26,063,847
Ensembl chr22:25,742,144...26,031,041
Ensembl chr22:25,742,144...26,031,041
JBrowse link
G ODAD1 outer dynein arm docking complex subunit 1 IAGP ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,457...48,321,894
Ensembl chr19:48,296,457...48,321,894
JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar PMID:28492532 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G SPATA22 spermatogenesis associated 22 IAGP ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr17:3,440,019...3,513,858
Ensembl chr17:3,440,019...3,513,852
JBrowse link
G TLCD3A TLC domain containing 3A IAGP ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr17:732,596...742,968
Ensembl chr17:732,412...742,968
JBrowse link
G WDR81 WD repeat domain 81 IAGP ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599
JBrowse link
G ZXDA zinc finger X-linked duplicated A IAGP ClinVar Annotator: match by term: FRASER SYNDROME 3 ClinVar NCBI chr  X:57,905,430...57,910,458
Ensembl chr  X:57,906,708...57,910,820
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 IAGP ClinVar Annotator: match by term: Frontonasal dysplasia 3 ClinVar
OMIM
PMID:20451171 PMID:24467814 PMID:27324866 PMID:28492532 NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784
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 IAGP ClinVar Annotator: match by term: Gillespie syndrome ClinVar
OMIM
PMID:7952360 PMID:10664581 PMID:17558851 PMID:24091540 PMID:25741868 PMID:25794864 PMID:27062503 PMID:27108797 PMID:27108798 PMID:27862915 PMID:28659154 PMID:28826917 PMID:29169895 PMID:29925855 PMID:32499604 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,840
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 IAGP ClinVar Annotator: match by term: Heart and brain malformation syndrome ClinVar
OMIM
PMID:27018474 NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22842230 NCBI chr 1:9,942,923...9,996,884
Ensembl chr 1:9,943,428...9,985,501
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 IAGP ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:16763960 PMID:17661815 PMID:18073582 PMID:18414213 PMID:18445044 PMID:18834967 PMID:21158681 PMID:21995344 PMID:22033296 PMID:22461308 PMID:22539353 PMID:23378218 PMID:23533228 PMID:24033266 PMID:24862881 PMID:25077900 PMID:25107291 PMID:25741868 PMID:25931334 PMID:25996639 PMID:26467025 PMID:28475860 PMID:28492532 PMID:29255181 PMID:29304373 PMID:31042289 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
hydrophthalmos term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 IAGP DNA:insertion, deletions:exons, intron:g.1209_1214insC, g.1410_1422del, g.1389-?-1422+?del (human) RGD PMID:9097971 RGD:1599716 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO RGD PMID:22426483 RGD:8549773 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G KDR kinase insert domain receptor ISO RGD PMID:22426483 RGD:8549773 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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 IAGP ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis ClinVar
OMIM
PMID:25741868 PMID:27939639 PMID:27939640 NCBI chr 3:9,731,729...9,748,015
Ensembl chr 3:9,731,729...9,748,015
JBrowse link
iridogoniodysgenesis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITX2 paired like homeodomain 2 IAGP ClinVar Annotator: match by term: Iridogoniodysgenesis syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
isolated cryptophthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FREM1 FRAS1 related extracellular matrix 1 ISO DNA:deletion, frame shift:cds, splice junction:
DNA:missense mutation:cds:c.1687A>T c (p.I563F)(mouse)
RGD PMID:23221805, PMID:23536828 RGD:11554181, RGD:11554185 NCBI chr 9:14,734,666...14,911,653
Ensembl chr 9:14,734,666...14,910,995
Ensembl chr 9:14,734,666...14,910,995
JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 IAGP ClinVar Annotator: match by term: Cryptophthalmos, unilateral or bilateral, isolated ClinVar
OMIM
PMID:29688405 PMID:30802441 NCBI chr13:38,687,041...38,887,131
Ensembl chr13:38,687,077...38,887,131
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 IAGP ClinVar Annotator: match by term: ANOPHTHALMIA, CLINICAL, ISOLATED
ClinVar Annotator: match by term: Microphthalmia, isolated 2
ClinVar
OMIM
PMID:3378363 PMID:11341888 PMID:15257456 PMID:17661825 PMID:21976963 PMID:25741868 PMID:28492532 NCBI chr14:74,239,449...74,262,738
Ensembl chr14:74,239,449...74,262,738
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 IAGP ClinVar Annotator: match by term: Microphthalmia, isolated 3 ClinVar
OMIM
PMID:14662654 PMID:18783408 PMID:19158959 PMID:20494911 PMID:25741868 PMID:28492532 NCBI chr18:59,267,038...59,273,454
Ensembl chr18:59,267,035...59,274,086
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 IAGP ClinVar Annotator: match by term: Microphthalmia, isolated 4 ClinVar
OMIM
PMID:18425797 PMID:19129173 PMID:23307924 PMID:24033266 PMID:25741868 PMID:32737436 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806
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 IAGP ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
ClinVar Annotator: match by term: Microphthalmia, isolated 5
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 chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,340,940
JBrowse link
G MFRP membrane frizzled-related protein IAGP DNA:deletion,nonsense mutation:exons:p.N167TfsX25,p.Y317X(human)
ClinVar Annotator: match by term: Microphthalmia, isolated 5
ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
ClinVar
OMIM
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, PMID:19753314 RGD:11553925 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,346,705
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 IAGP ClinVar Annotator: match by term: Microphthalmia, isolated 6 ClinVar PMID:19169412 PMID:25741868 PMID:28492532 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,340,940
JBrowse link
G MFRP membrane frizzled-related protein IAGP ClinVar Annotator: match by term: Microphthalmia, isolated 6 ClinVar PMID:19169412 PMID:25741868 PMID:28492532 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,346,705
JBrowse link
G PRSS56 serine protease 56 IAGP ClinVar Annotator: match by term: Microphthalmia, isolated 6 ClinVar
OMIM
PMID:15823920 PMID:19526372 PMID:21397065 PMID:21532570 PMID:21670352 PMID:21850159 PMID:22908982 PMID:23127749 PMID:24033266 PMID:24227917 PMID:25741868 PMID:28492532 PMID:32996714 NCBI chr 2:232,520,388...232,525,716
Ensembl chr 2:232,520,388...232,525,716
Ensembl chr 2:232,520,388...232,525,716
JBrowse link
G VSX2 visual system homeobox 2 IAGP ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC ClinVar NCBI chr14:74,239,449...74,262,738
Ensembl chr14:74,239,449...74,262,738
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 IAGP ClinVar Annotator: match by term: Microphthalmia, isolated 7 ClinVar
OMIM
PMID:19864492 NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775
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 IAGP ClinVar Annotator: match by term: Microphthalmia, isolated 8 ClinVar
OMIM
PMID:23312594 PMID:25741868 PMID:26995144 PMID:28492532 NCBI chr15:100,879,831...100,916,626
Ensembl chr15:100,877,714...100,916,626
JBrowse link
G ALDH1A3-AS1 ALDH1A3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Microphthalmia, isolated 8 ClinVar PMID:23312594 PMID:26995144 PMID:28492532 NCBI chr15:100,892,343...100,919,283
Ensembl chr15:100,892,343...100,919,391
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 IAGP
EXP
ClinVar Annotator: match by term: Cataract, microphthalmia and nystagmus
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15266624 PMID:23167593 PMID:24702266 PMID:25741868 PMID:28492532 NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850
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 IAGP ClinVar Annotator: match by term: Microphthalmia, isolated, with cataract 3 ClinVar PMID:25741868 NCBI chr  X:17,375,200...17,735,994
Ensembl chr  X:17,375,200...17,735,994
Ensembl chr  X:17,375,200...17,735,994
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 IAGP ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 10 ClinVar
OMIM
PMID:25741868 PMID:25910211 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
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 IAGP ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 3 ClinVar
OMIM
PMID:15257456 PMID:21976963 PMID:25606400 PMID:25741868 PMID:28492532 NCBI chr14:74,239,449...74,262,738
Ensembl chr14:74,239,449...74,262,738
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 IAGP ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 5 ClinVar
OMIM
PMID:9302262 PMID:10556296 PMID:12503095 PMID:18414213 PMID:20425842 PMID:25741868 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
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 IAGP ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6 ClinVar
OMIM
PMID:19864492 PMID:24281366 PMID:25741868 NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775
JBrowse link
G GDF6 growth differentiation factor 6 IAGP ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 6 OMIM
ClinVar
PMID:19864492 PMID:23307924 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806
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) IAGP ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 7 ClinVar
OMIM
PMID:19504436 PMID:22226084 PMID:24281366 NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994
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 IAGP ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 9
ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 15
ClinVar
OMIM
PMID:22766609 PMID:25741868 PMID:27103084 PMID:29753094 PMID:30513139 NCBI chr 4:181,447,613...182,803,024
Ensembl chr 4:182,143,987...182,803,024
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 IAGP ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:15322546 PMID:15467982 PMID:16453322 PMID:25616960 PMID:25741868 PMID:28492532 NCBI chr 6:135,283,532...135,497,771
Ensembl chr 6:135,283,532...135,497,765
JBrowse link
G ARL13B ADP ribosylation factor like GTPase 13B IAGP ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:93,980,147...94,055,678
Ensembl chr 3:93,980,139...94,055,678
JBrowse link
G B9D1 B9 domain containing 1 IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:24886560 PMID:26092869 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar PMID:18950740 PMID:19777577 PMID:21068128 PMID:22241855 PMID:22425360 PMID:22995991 PMID:23012439 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26485645 PMID:27081510 PMID:27082236 PMID:28492532 NCBI chr 4:15,468,660...15,601,557
Ensembl chr 4:15,469,865...15,601,552
Ensembl chr 4:15,469,865...15,601,552
JBrowse link
G CEP290 centrosomal protein 290 IAGP 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 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 chr12:88,049,013...88,142,216
Ensembl chr12:88,049,016...88,142,099
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:26092869 NCBI chr 5:37,063,928...37,249,499
Ensembl chr 5:37,106,228...37,249,421
Ensembl chr 5:37,106,228...37,249,421
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP
EXP
ClinVar Annotator: match by term: Joubert syndrome 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:15786477 PMID:18414213 PMID:19668216 PMID:23386033 PMID:25133751 PMID:25741868 PMID:25818971 PMID:26092869 PMID:28492532 PMID:29186038 PMID:29230161 PMID:30202406 NCBI chr 9:136,428,619...136,439,861
Ensembl chr 9:136,428,619...136,439,845
JBrowse link
G MICALL2 MICAL like 2 IAGP ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar NCBI chr 7:1,433,639...1,459,497
Ensembl chr 7:1,428,465...1,459,470
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:17185389 PMID:17397051 PMID:23351400 PMID:28492532 NCBI chr17:58,205,436...58,219,605
Ensembl chr17:58,205,441...58,219,605
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G NPHP1 nephrocystin 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:24746959 PMID:25741868 PMID:28492532 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:13,734,726...13,773,978
Ensembl chr  X:13,734,745...13,769,357
JBrowse link
G RPGRIP1L RPGRIP1 like IAGP ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar PMID:17558409 PMID:19430481 PMID:25741868 PMID:28492532 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
JBrowse link
G TCTN1 tectonic family member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21725307 NCBI chr12:110,614,068...110,649,430
Ensembl chr12:110,614,027...110,649,430
JBrowse link
G TMEM216 transmembrane protein 216 IAGP 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 chr11:61,391,982...61,398,847
Ensembl chr11:61,392,360...61,398,863
JBrowse link
G TMEM237 transmembrane protein 237 IAGP ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
JBrowse link
G TMEM67 transmembrane protein 67 IAGP ClinVar Annotator: match by term: Agenesis of cerebellar vermis
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar PMID:9375913 PMID:17377820 PMID:17397051 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28431631 PMID:28492532 PMID:29891882 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:21258341 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:165,873,362...165,953,781
Ensembl chr 2:165,857,475...165,953,816
JBrowse link
G TTC21B-AS1 TTC21B antisense RNA 1 IAGP ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:21258341 PMID:25741868 PMID:28492532 NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,857...165,949,891
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 IAGP DNA:misense mutation:exon:c.35G>T(p.R12L)(human)
ClinVar Annotator: match by term: Joubert syndrome 2
ClinVar Annotator: match by term: Joubert syndrome type 2
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2
ClinVar
OMIM
PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26673778 PMID:28492532 PMID:28497568, PMID:20036350 RGD:11561919 NCBI chr11:61,391,982...61,398,847
Ensembl chr11:61,392,360...61,398,863
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 IAGP ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808
Ensembl chr 3:8,733,802...8,841,808
JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A no_association IAGP DNA:mutations: :multiple
ClinVar Annotator: match by term: Joubert syndrome 9
ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic
DNA:splice-site mutation:intron:IVS19+1G>C (human)
ClinVar
OMIM
PMID:8253763 PMID:18387594 PMID:18414213 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:21068128 PMID:21370303 PMID:22241855 PMID:22246503 PMID:22425360 PMID:23012439 PMID:23692786 PMID:24033266 PMID:24706459 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26485645 PMID:26673778 PMID:26729329 PMID:27081510 PMID:27082236 PMID:27959436 PMID:28492532 PMID:32488064, PMID:22241855, PMID:19068953, PMID:22241855 RGD:11062645, RGD:11535976, RGD:11062645 NCBI chr 4:15,468,660...15,601,557
Ensembl chr 4:15,469,865...15,601,552
Ensembl chr 4:15,469,865...15,601,552
JBrowse link
G CEP41 centrosomal protein 41 IAGP ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic ClinVar PMID:20301500 PMID:22246503 PMID:28492532 PMID:30664616 NCBI chr 7:130,393,771...130,441,057
Ensembl chr 7:130,393,771...130,442,433
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 IAGP ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar PMID:10766140 PMID:16123440 PMID:19431183 PMID:24265693 PMID:25741868 PMID:28492532 NCBI chr 1:68,428,822...68,450,322
Ensembl chr 1:68,428,822...68,449,954
JBrowse link
G SMAD6 SMAD family member 6 IAGP ClinVar Annotator: match by term: Joubert syndrome 9 ClinVar NCBI chr15:66,702,110...66,782,849
Ensembl chr15:66,702,236...66,782,849
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 IAGP ClinVar Annotator: match by term: Kahrizi syndrome ClinVar
OMIM
PMID:18781183 PMID:20700148 NCBI chr 4:55,346,228...55,373,100
Ensembl chr 4:55,346,242...55,373,100
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 IAGP ClinVar Annotator: match by term: Blepharophimosis-ptosis-intellectual disability syndrome ClinVar PMID:18414213 PMID:25741868 NCBI chr 9:91,722,598...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G UBE3B ubiquitin protein ligase E3B IAGP
EXP
ClinVar Annotator: match by term: Kaufman oculocerebrofacial syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:23200864 PMID:24615390 PMID:25356970 PMID:25741868 PMID:28003368 NCBI chr12:109,477,410...109,543,628
Ensembl chr12:109,477,402...109,536,705
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 COX7B cytochrome c oxidase subunit 7B EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376
JBrowse link
G HCCS holocytochrome c synthase IAGP ClinVar Annotator: match by term: Microphthalmia, syndromic, 7
ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1
ClinVar
OMIM
PMID:16059943 PMID:17033964 PMID:25741868 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086
JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1
CTD
ClinVar
PMID:25741868 PMID:25772934 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,216...47,145,038
Ensembl chr  X:47,142,216...47,145,038
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 IAGP ClinVar Annotator: match by term: Marden-Walker syndrome ClinVar
OMIM
PMID:24726473 PMID:25741868 NCBI chr18:10,670,237...11,149,585
Ensembl chr18:10,666,483...11,149,569
Ensembl chr18:10,666,483...11,149,569
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 IAGP
EXP
ISO
DNA:deletion,frameshift,missense mutations:exons,cds:
ClinVar Annotator: match by term: Manitoba Trichoanal syndrome
ClinVar Annotator: match by term: Marles syndrome
ClinVar Annotator: match by term: Marles Greenberg Persaud syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutation:splice junction:
ClinVar
CTD
OMIM
PMID:11332973 PMID:17352387 PMID:21507892 PMID:21931569 PMID:23112756 PMID:23221805 PMID:23333812 PMID:23806086 PMID:24088041 PMID:24115501 PMID:25736269 PMID:25741868 PMID:26893459 PMID:28492532, PMID:21507892, PMID:21507892 RGD:11070482, RGD:11070482 NCBI chr 9:14,734,666...14,911,653
Ensembl chr 9:14,734,666...14,910,995
Ensembl chr 9:14,734,666...14,910,995
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 IAGP ClinVar Annotator: match by term: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation ClinVar
OMIM
PMID:15930898 PMID:22284827 PMID:25115524 PMID:25124931 PMID:25741868 PMID:25934493 PMID:26472404 PMID:27212378 PMID:28492532 PMID:32214227 NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,593,130...92,655,395
Ensembl chr10:92,593,130...92,655,395
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 IAGP ClinVar Annotator: match by term: Microcornea, myopic chorioretinal atrophy, and telecanthus ClinVar
OMIM
PMID:22686506 PMID:23818446 NCBI chr16:77,282,128...77,435,034
Ensembl chr16:77,247,813...77,435,034
JBrowse link
microphthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP6 Rho GTPase activating protein 6 ISS OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 MouseDO NCBI chr  X:11,137,544...11,665,920
Ensembl chr  X:11,117,651...11,665,920
JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP ClinVar Annotator: match by term: Microphthalmia ClinVar PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 PMID:25920557 PMID:25944381 PMID:28492532 PMID:32581362 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 IAGP ClinVar Annotator: match by term: Anophthalmia - microphthalmia
ClinVar Annotator: match by term: Microphthalmia
ClinVar NCBI chr11:31,509,767...31,790,324
Ensembl chr11:31,509,755...31,790,324
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:10739753 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,470...49,539,538
JBrowse link
G FANCD2 FA complementation group D2 ISO RGD PMID:12893777 RGD:11344906 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,414...10,101,932
Ensembl chr 3:10,026,414...10,101,932
JBrowse link
G FGF8 fibroblast growth factor 8 EXP CTD Direct Evidence: therapeutic CTD PMID:32472575 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,130...101,780,369
JBrowse link
G GJA8 gap junction protein alpha 8 ISO DNA:missense mutation:cds:p.L7Q(rat) RGD PMID:18470322 RGD:2293186 NCBI chr 1:147,902,795...147,915,287
Ensembl chr 1:147,902,795...147,909,269
Ensembl chr 1:147,902,795...147,909,269
JBrowse link
G HCCS holocytochrome c synthase IAGP
ISS
microphthalmia with linear skin defects, OMIM:309801, DNA:point mutations:exon:R197X, R217C
OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972
MouseDO PMID:17033964 RGD:1600417 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086
JBrowse link
G HMX1 H6 family homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19379485 NCBI chr 4:8,846,076...8,871,839
Ensembl chr 4:8,846,076...8,871,839
JBrowse link
G LOC106014249 PAX6 upstream regulatory region IAGP ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar NCBI chr11:31,811,105...31,827,240 JBrowse link
G LRP5 LDL receptor related protein 5 IAGP DNA:mutation:splice junction: RGD PMID:28111184 RGD:12793059 NCBI chr11:68,298,866...68,449,275
Ensembl chr11:68,312,591...68,449,275
JBrowse link
G MFRP membrane frizzled-related protein IAGP DNA:nonsense mutations:exons:c.271C>T,c.498dupC(human) RGD PMID:23742260 RGD:11553922 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,346,705
JBrowse link
G MID1 midline 1 ISS OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 MouseDO NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654
JBrowse link
G NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: Anophthalmia/Microphthalmia ClinVar PMID:26893459 PMID:28492532 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G PAX6 paired box 6 IMP
IAGP
human gene in a mouse model
ClinVar Annotator: match by term: Anophthalmia - microphthalmia
ClinVar PMID:9727514 PMID:12868034 PMID:15086958 PMID:16407227 PMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532, PMID:18507827 RGD:8552240 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
JBrowse link
G PITX3 paired like homeodomain 3 ISO
EXP
DNA:nonsense mutation:cl444C>A(mouse)
CTD Direct Evidence: marker/mechanism
CTD PMID:16565358, PMID:25347445 RGD:11535071 NCBI chr10:102,230,189...102,241,512
Ensembl chr10:102,230,186...102,241,512
JBrowse link
G PRSS56 serine protease 56 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21532570 NCBI chr 2:232,520,388...232,525,716
Ensembl chr 2:232,520,388...232,525,716
Ensembl chr 2:232,520,388...232,525,716
JBrowse link
G RALBP1 ralA binding protein 1 ISS OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972 MouseDO NCBI chr18:9,475,513...9,538,114
Ensembl chr18:9,475,009...9,538,114
JBrowse link
G SHH sonic hedgehog signaling molecule EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:31690747 PMID:32472575 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SIX6 SIX homeobox 6 IAGP ClinVar Annotator: match by term: Anophthalmia - microphthalmia ClinVar PMID:25741868 PMID:28492532 NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850
JBrowse link
G STAU2 staufen double-stranded RNA binding protein 2 ISO RGD PMID:22940085 RGD:10043154 NCBI chr 8:73,420,369...73,747,480
Ensembl chr 8:73,420,369...73,747,708
JBrowse link
G STRA6 signaling receptor and transporter of retinol STRA6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18316031 NCBI chr15:74,179,466...74,212,267
Ensembl chr15:74,179,466...74,212,267
JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP ClinVar Annotator: match by term: Nanophthalmos ClinVar PMID:25741868 NCBI chr 6:10,396,677...10,419,897
Ensembl chr 6:10,393,186...10,419,659
JBrowse link
G VSX2 visual system homeobox 2 IAGP 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 chr14:74,239,449...74,262,738
Ensembl chr14:74,239,449...74,262,738
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 chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
G VSX2 visual system homeobox 2 IAGP ClinVar Annotator: match by term: Microphthalmia, cataracts, and iris abnormalities ClinVar PMID:11341888 PMID:17661825 NCBI chr14:74,239,449...74,262,738
Ensembl chr14:74,239,449...74,262,738
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 IAGP ClinVar Annotator: match by term: Microspherophakia ClinVar PMID:19361779 PMID:20179738 PMID:20617341 PMID:21081970 PMID:22025892 PMID:25741868 PMID:28492532 NCBI chr14:74,498,183...74,612,593
Ensembl chr14:74,498,183...74,612,378
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 IAGP OMIM NCBI chr14:74,498,183...74,612,593
Ensembl chr14:74,498,183...74,612,378
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 IAGP ClinVar Annotator: match by term: Nanophthalmos ClinVar PMID:25412400 PMID:26583794 PMID:28492532 PMID:29170418 PMID:30181649 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,340,940
JBrowse link
G MFRP membrane frizzled-related protein IEA
IAGP
OMIM:600165 | OMIM:609549 | OMIM:611897 | OMIM:615972
ClinVar Annotator: match by term: Nanophthalmos
MouseDO
ClinVar
PMID:25412400 PMID:26583794 PMID:28492532 PMID:29170418 PMID:30181649 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,346,705
JBrowse link
G PRSS56 serine protease 56 IAGP ClinVar Annotator: match by term: Nanophthalmos ClinVar PMID:19526372 PMID:21397065 PMID:21532570 PMID:21670352 PMID:22908982 PMID:23127749 PMID:24033266 PMID:24227917 NCBI chr 2:232,520,388...232,525,716
Ensembl chr 2:232,520,388...232,525,716
Ensembl chr 2:232,520,388...232,525,716
JBrowse link
G TMEM98 transmembrane protein 98 IEA OMIM:600165 | OMIM:609549 | OMIM:611897 | OMIM:615972 MouseDO NCBI chr17:32,928,153...32,944,315
Ensembl chr17:32,927,910...32,945,106
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 IAGP ClinVar Annotator: match by term: Nanophthalmos 1 ClinVar NCBI chr11:61,752,617...61,788,518
Ensembl chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518
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 IAGP 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 chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,340,940
JBrowse link
G MFRP membrane frizzled-related protein IAGP ClinVar Annotator: match by term: Nanophthalmos 2 ClinVar
OMIM
PMID:1258954 PMID:15976030 PMID:17167404 PMID:18554571 PMID:19753314 PMID:20361016 PMID:22605927 PMID:23112574 PMID:23143909 PMID:28492532 PMID:32996714 NCBI chr11:119,338,942...119,346,705
Ensembl chr11:119,338,942...119,346,705
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 IAGP ClinVar Annotator: match by term: Nanophthalmos 4 ClinVar
OMIM
PMID:24852644 PMID:26392740 NCBI chr17:32,928,153...32,944,315
Ensembl chr17:32,927,910...32,945,106
JBrowse link
Nasopalpebral Lipoma Coloboma Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source