Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:iris disease
go back to main search page
Accession:DOID:240 term browser browse the term
Definition:Diseases, dysfunctions, or disorders of or located in the iris.
Synonyms:exact_synonym: Iris Diseases
 primary_id: MESH:D007499;   RDO:0000707
 xref: NCI:C34737
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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:9281415, PMID:9482572, PMID:9651515, PMID:9727514, PMID:9792406, PMID:9931324, PMID:10234503, PMID:10412187, 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:26010655, PMID:26535646, PMID:26661695, PMID:26694549, PMID:26849621, PMID:27081502, PMID:27081561, 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
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
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
EDICT Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR184 microRNA 184 IAGP ClinVar Annotator: match by term: Edict syndrome ClinVar
OMIM
PMID:11874753, PMID:14638698, PMID:21996275, PMID:22131394 NCBI chr15:79,209,788...79,209,871
Ensembl chr15:79,209,788...79,209,871
JBrowse link
exfoliation syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr 6:32,168,212...32,178,108
Ensembl chr 6:32,168,212...32,178,096
JBrowse link
G APOE apolipoprotein E susceptibility IAGP DNA:polymorphism:exon: RGD PMID:15939044 RGD:7771555 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A EXP CTD Direct Evidence: marker/mechanism CTD PMID:25706626 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G CAV1 caveolin 1 no_association IAGP DNA:SNP:promoter:rs4236601 (human) RGD PMID:20835238 RGD:8661783 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,525,001...116,561,184
JBrowse link
G CLU clusterin no_association IAGP
IEP
DNA:SNPs, haplotype: :multiple
DNA:SNP:intron:rs2279590 (human)
RGD PMID:18806885, PMID:25057782, PMID:19182256, PMID:19182256, PMID:16639006 RGD:8699505, RGD:9068391, RGD:8887372, RGD:8887372, RGD:8699516 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
JBrowse link
G EDN1 endothelin 1 IEP associated with Cataract;protein:increased expression:aqueous humor (human) RGD PMID:15031170 RGD:8661674 NCBI chr 6:12,256,463...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G ELN elastin IEP RGD PMID:7777294 RGD:9585736 NCBI chr 7:74,027,772...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility
no_association
IAGP DNA:deletion, haplotype:cds (human)
DNA:deletion:cds (human)
RGD PMID:18334963, PMID:16020292 RGD:7488955, RGD:7495792 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility
no_association
IAGP
IEP
DNA:deletion:cds (human)
mRNA:decreased expression:ciliary processes, iris (human)
RGD PMID:21151336, PMID:18055805, PMID:16020292 RGD:7794822, RGD:7794853, RGD:7495792
G LOXL1 lysyl oxidase like 1 susceptibility
no_association
IAGP
EXP
ISO
IEP
DNA:SNP: :p.R141L (rs1048661) (human)
ClinVar Annotator: match by term: Exfoliation syndrome, susceptibility to
CTD Direct Evidence: marker/mechanism
DNA:CNVs
DNA:SNPs:exon:p.R141L, p.G153D (human)
DNA:SNP, haplotypes:promoter:multiple
DNA:SNP:exon:rs1048661, rs3825942 (human)
DNA:SNP, haplotypes: :rs1048661, rs3825942 (human)
DNA:SNP: :multiple
ClinVar
OMIM
CTD
PMID:17690259, PMID:18037624, PMID:19343041, PMID:25706626, PMID:28553957, PMID:23378724, PMID:19029039, PMID:23288989, PMID:21320968, PMID:21212179, PMID:21740868, PMID:22605916, PMID:19503743, PMID:19373106 RGD:7387325, RGD:7394726, RGD:7387333, RGD:7387332, RGD:7387331, RGD:7387329, RGD:7387328, RGD:7387327, RGD:7387326 NCBI chr15:73,926,462...73,952,137
Ensembl chr15:73,925,989...73,952,137
JBrowse link
G LOXL1-AS1 LOXL1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Exfoliation syndrome, susceptibility to ClinVar PMID:17690259, PMID:18037624, PMID:19343041 NCBI chr15:73,917,468...73,928,248
Ensembl chr15:73,908,071...73,928,248
JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 IAGP ClinVar Annotator: match by term: Pseudoexfoliation glaucoma ClinVar PMID:23401661, PMID:28492532 NCBI chr14:74,498,183...74,612,593
Ensembl chr14:74,498,183...74,612,378
JBrowse link
G LYST lysosomal trafficking regulator ISS OMIM:177650 MouseDO NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,640
JBrowse link
G MMP1 matrix metallopeptidase 1 no_association IAGP DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:20808730 RGD:8549725 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,919...102,798,160
JBrowse link
G MMP9 matrix metallopeptidase 9 no_association IAGP DNA:insertion: :p.Q279R (rs17576) (human) RGD PMID:20808730 RGD:8549725 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G OPTN optineurin no_association IAGP DNA:polymorphism: :p.M98K (human) RGD PMID:16020311 RGD:6480509 NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308
JBrowse link
G POMP proteasome maturation protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr13:28,659,130...28,678,959
Ensembl chr13:28,659,104...28,678,959
JBrowse link
G PON1 paraoxonase 1 IEP protein:decreased expression:serum (human) RGD PMID:19628957 RGD:8547685 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G RBMS3 RNA binding motif single stranded interacting protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr 3:29,280,860...30,010,395
Ensembl chr 3:28,574,791...30,010,391
JBrowse link
G SOD2 superoxide dismutase 2 IEP associated with cataract;mRNA:increased expression:lens epithelium:
associated with glaucoma,primary open angle; mRNA:increased expression: ciliary body, iris:
RGD PMID:23805041, PMID:18055805 RGD:8158048, RGD:7794853 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G TLCD5 TLC domain containing 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr11:120,325,299...120,333,686
Ensembl chr11:120,325,129...120,333,682
Ensembl chr11:120,325,129...120,333,682
JBrowse link
G TLR4 toll like receptor 4 susceptibility IAGP DNA:haplotype:: RGD PMID:22831837 RGD:7794768 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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:11445634, PMID:12611586, PMID:14981189, PMID:17030759, PMID:17558851, PMID:17590087, PMID:18579805, PMID:21367767, PMID:22986007, PMID:23495097, PMID:25574826, PMID:25741868, PMID:25794864, PMID:26770814, PMID:27062503, PMID:27108797, PMID:27108798, PMID:27862915, PMID:28488678, PMID:28659154, 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
Heterochromia Iridis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle IAGP ClinVar Annotator: match by term: Heterochromia iridis ClinVar PMID:30311386 NCBI chr10:88,935,074...88,991,397
Ensembl chr10:88,935,074...88,991,339
JBrowse link
G ACTA2-AS1 ACTA2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Heterochromia iridis ClinVar PMID:30311386 NCBI chr10:88,932,684...88,939,974
Ensembl chr10:88,932,390...88,940,820
JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 IAGP ClinVar Annotator: match by term: Heterochromia iridis ClinVar PMID:22961002, PMID:25342199, PMID:26182879, PMID:27549087, PMID:28492532, PMID:30311386 NCBI chr 5:131,159,027...131,165,256
Ensembl chr 5:131,155,383...131,224,468
Ensembl chr 5:131,155,383...131,224,468
JBrowse link
G MITF melanocyte inducing transcription factor IAGP ClinVar Annotator: match by term: Heterochromia iridis ClinVar PMID:8659547, PMID:9856573, PMID:25741868, PMID:30311386 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
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 IAGP ClinVar Annotator: match by term: Heterochromia iridis ClinVar PMID:25795793, PMID:26173643, PMID:28492532, PMID:29493581, PMID:30311386 NCBI chr14:50,117,130...50,231,578
Ensembl chr14:50,117,130...50,231,578
JBrowse link
iridocyclitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP DNA:polymorphism: :-318C>T,(AT)16(human) RGD PMID:17287608 RGD:7421512 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,867,771...203,873,965
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP associated with Juvenile pauciarticular chronic arthritis;DNA:polymorphism:cds:HLA-DQB1*0301 (human) RGD PMID:1625093 RGD:7421584 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G ICAM1 intercellular adhesion molecule 1 IAGP DNA:SNP:exon:p.R241G (human) RGD PMID:20445114 RGD:8547694 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IL1A interleukin 1 alpha IAGP associated with Arthritis, Juvenile;DNA:SNP:promoter:-889C>T (human) RGD PMID:8162643 RGD:7794716 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
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
WAGR 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: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
ClinVar Annotator: match by term: 11p partial monosomy 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: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
ClinVar Annotator: match by term: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
ClinVar 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: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome ClinVar NCBI chr11:32,430,848...32,437,423 JBrowse link
G PAX6 paired box 6 IAGP
EXP
ClinVar Annotator: match by term: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
ClinVar Annotator: match by term: 11p partial monosomy syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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
G WT1 WT1 transcription factor IEA
EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
CTD
ClinVar
PMID:15118671 RGD:1331525 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    sensory system disease 5735
      eye disease 3010
        uveal disease 252
          iris disease 86
            De Hauwere Leroy Adriaenssens syndrome 0
            EDICT Syndrome 1
            Heterochromia Iridis 5
            Iridocorneal Endothelial Syndrome + 0
            Iris Hypoplasia and Glaucoma 0
            Iris Neoplasms + 0
            aniridia + 53
            ciliary body disease + 0
            exfoliation syndrome 22
            iridocyclitis + 4
            iridogoniodysgenesis syndrome + 2
            iritis 0
Path 2
Term Annotations click to browse term
  disease 18864
    disease of anatomical entity 17349
      nervous system disease 13439
        sensory system disease 5735
          eye disease 3010
            uveal disease 252
              iris disease 86
                De Hauwere Leroy Adriaenssens syndrome 0
                EDICT Syndrome 1
                Heterochromia Iridis 5
                Iridocorneal Endothelial Syndrome + 0
                Iris Hypoplasia and Glaucoma 0
                Iris Neoplasms + 0
                aniridia + 53
                ciliary body disease + 0
                exfoliation syndrome 22
                iridocyclitis + 4
                iridogoniodysgenesis syndrome + 2
                iritis 0
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.