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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:iris disease
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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 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:104,786,721...104,931,981
Ensembl chr 4:115,430,258...115,495,026
JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:105,315,776...105,882,506
Ensembl chr 4:115,967,106...116,443,905
JBrowse link
G AP1AR adaptor related protein complex 1 associated regulatory protein ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:104,720,583...104,762,097
Ensembl chr 4:115,282,727...115,322,872
JBrowse link
G ARSJ arylsulfatase family member J ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:106,413,083...106,493,804
Ensembl chr 4:116,977,450...117,055,778
JBrowse link
G CAMK2D calcium/calmodulin dependent protein kinase II delta ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:105,957,773...106,271,887
Ensembl chr 4:116,523,850...116,835,387
JBrowse link
G DCDC1 doublecortin domain containing 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr11:30,837,264...31,333,462 JBrowse link
G DNAJC24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr11:31,333,447...31,396,852
Ensembl chr11:31,223,109...31,286,055
JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aniridia
ClinVar Annotator: match by term: Congenital aniridia
CTD
ClinVar
NCBI chr11:31,473,439...31,754,446 JBrowse link
G FAM241A family with sequence similarity 241 member A ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:104,635,223...104,678,361 JBrowse link
G FOXC1 forkhead box C1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 6:1,429,051...1,433,180 JBrowse link
G GLIS3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by term: Aniridia ClinVar PMID:26893459 NCBI chr 9:3,633,416...4,125,420
Ensembl chr 9:3,827,712...4,300,658
JBrowse link
G GMDS GDP-mannose 4,6-dehydratase ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 6:1,443,129...2,071,856
Ensembl chr 6:1,556,227...2,178,330
JBrowse link
G IMMP1L inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr11:31,396,011...31,473,342
Ensembl chr11:31,285,619...31,362,843
JBrowse link
G KIF21A kinesin family member 21A ISO ClinVar Annotator: match by term: Aniridia ClinVar PMID:26893459 NCBI chr12:49,260,728...49,410,599
Ensembl chr12:50,120,004...50,267,664
JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:105,128,335...105,149,498
Ensembl chr 4:115,698,093...115,711,003
JBrowse link
G NEUROG2 neurogenin 2 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:105,002,447...105,005,704 JBrowse link
G PAX6 paired box 6 susceptibility ISO associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human)
ClinVar Annotator: match by term: Absent iris
ClinVar Annotator: match by term: Aniridia
ClinVar Annotator: match by term: Congenital aniridia
ClinVar Annotator: match by term: Aniridia, atypical
associated with Nystagmus, Congenital;DNA:insertion:exon:c.888insA(human)
DNA:nonsense mutation:cds:p.R240X (human)
DNA:frameshift mutation:cds:p.P418SfsX87 (human)
CTD Direct Evidence: marker/mechanism
DNA:deletions:cds:c.170-174delTGGGC, c.475delC (human)
DNA:deletion:cds:p.R38PfsX12 (human)
DNA:mutations:exon, intron:multiple (human)
DNA:snps, nonsense mutation:introns, cds:IVS5a+1G>A, IVS8-1G>A, p.Q215X (mouse)
DNA:deletion:cds:p.Q297HfsX68 (human)
DNA:deletion, snp:cds:p.R38GfsX16, p.S121L (human)
RGD
ClinVar
CTD
PMID:9138149, PMID:9931324, PMID:16080917, PMID:16303964, PMID:17417613, PMID:18322702, PMID:18776953, PMID:19862335, PMID:20664694, PMID:22171157, PMID:22393272, PMID:22550392, PMID:22815628, PMID:23734086, PMID:25366758, PMID:25741868, PMID:30221735 RGD:12790966, RGD:1601209, RGD:8551856, RGD:8551858, RGD:8551859, RGD:8551860, RGD:8551870, RGD:8551879, RGD:8552246, RGD:8552277, RGD:8552301 NCBI chr11:31,753,190...31,782,225 JBrowse link
G SOX2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:178,744,881...178,747,392
Ensembl chr 3:186,922,705...186,923,662
JBrowse link
G TIFA TRAF interacting protein with forkhead associated domain ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:104,765,007...104,776,217 JBrowse link
G TRIM44 tripartite motif containing 44 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:35,633,985...35,782,260
Ensembl chr11:35,508,083...35,656,684
JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:32,349,807...32,398,494 JBrowse link
G ZGRF1 zinc finger GRF-type containing 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 4:105,026,069...105,128,226
Ensembl chr 4:115,590,311...115,686,089
JBrowse link
Aniridia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCDC1 doublecortin domain containing 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978, PMID:11284764, PMID:17630404, PMID:24138039, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chr11:30,837,264...31,333,462 JBrowse link
G DNAJC24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978, PMID:11284764, PMID:17630404, PMID:24138039, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chr11:31,333,447...31,396,852
Ensembl chr11:31,223,109...31,286,055
JBrowse link
G ELP4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978, PMID:11284764, PMID:11309364, PMID:11431688, PMID:12552561, PMID:12731001, PMID:16098226, PMID:17630404, PMID:18483559, PMID:24138039, PMID:24290376, PMID:25741868, PMID:26661695, PMID:27124303, PMID:27431685, PMID:28321846, PMID:28492532, PMID:29618921 NCBI chr11:31,473,439...31,754,446 JBrowse link
G IMMP1L inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978, PMID:11284764, PMID:17630404, PMID:24138039, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chr11:31,396,011...31,473,342
Ensembl chr11:31,285,619...31,362,843
JBrowse link
G PAX6 paired box 6 ISO OMIM NCBI chr11:31,753,190...31,782,225 JBrowse link
G RCN1 reticulocalbin 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:17630404, PMID:24138039, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chr11:32,054,917...32,069,524 JBrowse link
G WT1 WT1 transcription factor ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:8975729, PMID:9090524, PMID:17630404, PMID:23349334, PMID:24138039, PMID:25741868, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chr11:32,349,807...32,398,494 JBrowse link
Aniridia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELP4 elongator acetyltransferase complex subunit 4 ISO OMIM NCBI chr11:31,473,439...31,754,446 JBrowse link
Aniridia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIM44 tripartite motif containing 44 ISO OMIM NCBI chr11:35,633,985...35,782,260
Ensembl chr11:35,508,083...35,656,684
JBrowse link
anterior segment dysgenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC1 forkhead box C1 ISO OMIM NCBI chr 6:1,429,051...1,433,180 JBrowse link
anterior segment dysgenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITX2 paired like homeodomain 2 ISO OMIM NCBI chr 4:103,112,624...103,137,356 JBrowse link
Chromosome 11p Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELP4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar NCBI chr11:31,473,439...31,754,446 JBrowse link
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:9727514, PMID:12868034, PMID:15086958, PMID:17417613, PMID:18776953, PMID:25741868, PMID:28492532 NCBI chr11:31,753,190...31,782,225 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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr 6:31,815,586...31,823,526
Ensembl chr 6:32,695,475...32,704,432
JBrowse link
G APOE apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:15939044 RGD:7771555 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25706626 NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729
JBrowse link
G CAV1 caveolin 1 no_association ISO DNA:SNP:promoter:rs4236601 (human) RGD PMID:20835238 RGD:8661783 NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
JBrowse link
G CLU clusterin no_association ISO DNA:SNP:intron:rs2279590 (human)
DNA:SNPs, haplotype: :multiple
RGD PMID:16639006, PMID:18806885, PMID:19182256, PMID:25057782 RGD:8699505, RGD:8699516, RGD:8887372, RGD:9068391 NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523
JBrowse link
G EDN1 endothelin 1 ISO associated with Cataract;protein:increased expression:aqueous humor (human) RGD PMID:15031170 RGD:8661674 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
JBrowse link
G ELN elastin ISO RGD PMID:7777294 RGD:9585736
G GSTM1 glutathione S-transferase mu 1 no_association
susceptibility
ISO DNA:deletion:cds (human)
DNA:deletion, haplotype:cds (human)
RGD PMID:16020292, PMID:18334963 RGD:7488955, RGD:7495792 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G LOXL1 lysyl oxidase like 1 susceptibility
no_association
ISO ClinVar Annotator: match by term: Exfoliation syndrome, susceptibility to
CTD Direct Evidence: marker/mechanism
DNA:SNP: :multiple
DNA:SNPs:exon:p.R141L, p.G153D (human)
DNA:CNVs
DNA:SNP, haplotypes: :rs1048661, rs3825942 (human)
DNA:SNP: :p.R141L (rs1048661) (human)
DNA:SNP:exon:rs1048661, rs3825942 (human)
DNA:SNP, haplotypes:promoter:multiple
OMIM
ClinVar
RGD
CTD
PMID:17690259, PMID:18037624, PMID:19029039, PMID:19343041, PMID:19373106, PMID:19503743, PMID:21212179, PMID:21320968, PMID:21740868, PMID:22605916, PMID:23288989, PMID:23378724, PMID:25706626, PMID:28553957 RGD:7387325, RGD:7387326, RGD:7387327, RGD:7387328, RGD:7387329, RGD:7387331, RGD:7387332, RGD:7387333, RGD:7394726 NCBI chr15:52,835,675...52,861,324 JBrowse link
G LTBP2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Pseudoexfoliation glaucoma ClinVar PMID:23401661, PMID:28492532 NCBI chr14:55,051,325...55,164,613
Ensembl chr14:73,901,851...74,011,914
JBrowse link
G MMP1 matrix metallopeptidase 1 no_association ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:20808730 RGD:8549725 NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
JBrowse link
G MMP9 matrix metallopeptidase 9 no_association ISO DNA:insertion: :p.Q279R (rs17576) (human) RGD PMID:20808730 RGD:8549725 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G OPTN optineurin no_association ISO DNA:polymorphism: :p.M98K (human) RGD PMID:16020311 RGD:6480509 NCBI chr10:13,104,335...13,142,725
Ensembl chr10:13,077,345...13,115,773
JBrowse link
G POMP proteasome maturation protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr13:9,946,250...9,965,475
Ensembl chr13:28,286,328...28,305,990
JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased expression:serum (human) RGD PMID:19628957 RGD:8547685 NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
JBrowse link
G RBMS3 RNA binding motif single stranded interacting protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr 3:28,460,921...29,931,862
Ensembl chr 3:29,494,280...30,245,021
JBrowse link
G SOD2 superoxide dismutase 2 ISO associated with glaucoma,primary open angle; mRNA:increased expression: ciliary body, iris:
associated with cataract;mRNA:increased expression:lens epithelium:
RGD PMID:18055805, PMID:23805041 RGD:7794853, RGD:8158048 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G TLCD5 TLC domain containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr11:115,161,556...115,170,850
Ensembl chr11:119,087,580...119,093,621
JBrowse link
G TLR4 toll like receptor 4 susceptibility ISO DNA:haplotype:: RGD PMID:22831837 RGD:7794768 NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
Gillespie syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 ISO OMIM NCBI chr 3:4,448,574...4,802,545
Ensembl chr 3:4,572,921...4,904,811
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 ISO ClinVar Annotator: match by term: Heterochromia iridis ClinVar PMID:30311386 NCBI chr10:85,660,983...85,678,729
Ensembl chr10:89,164,344...89,182,080
JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Heterochromia iridis ClinVar PMID:22961002, PMID:25342199, PMID:26182879, PMID:27549087, PMID:28492532, PMID:30311386 NCBI chr 5:126,587,934...126,594,032
Ensembl chr 5:132,755,766...132,761,823
JBrowse link
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Heterochromia iridis ClinVar PMID:8659547, PMID:9856573, PMID:25741868, PMID:30311386 NCBI chr 3:69,674,064...69,902,078
Ensembl chr 3:71,037,665...71,265,445
JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Heterochromia iridis ClinVar PMID:25795793, PMID:26173643, PMID:28492532, PMID:29493581, PMID:30311386 NCBI chr14:30,707,477...30,822,029
Ensembl chr14:49,014,782...49,101,764
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 ISO DNA:polymorphism: :-318C>T,(AT)16(human) RGD PMID:17287608 RGD:7421512 NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO DNA:SNP:exon:p.R241G (human) RGD PMID:20445114 RGD:8547694 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
JBrowse link
G IL1A interleukin 1 alpha ISO associated with Arthritis, Juvenile;DNA:SNP:promoter:-889C>T (human) RGD PMID:8162643 RGD:7794716 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO associated with Juvenile pauciarticular chronic arthritis;DNA:polymorphism:cds:HLA-DQB1*0301 (human) RGD PMID:1625093 RGD:7421584 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
iridogoniodysgenesis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITX2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Iridogoniodysgenesis syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 4:103,112,624...103,137,356 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 ISO 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 chr11:31,473,439...31,754,446 JBrowse link
G PAX6 paired box 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
ClinVar Annotator: match by term: 11p partial monosomy syndrome
CTD
ClinVar
PMID:9727514, PMID:12868034, PMID:15086958, PMID:17417613, PMID:18776953, PMID:25741868, PMID:28492532 NCBI chr11:31,753,190...31,782,225 JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
CTD
ClinVar
NCBI chr11:32,349,807...32,398,494 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12770
    sensory system disease 4826
      eye disease 2510
        uveal disease 207
          iris disease 52
            De Hauwere Leroy Adriaenssens syndrome 0
            EDICT Syndrome 0
            Heterochromia Iridis 4
            Iridocorneal Endothelial Syndrome + 0
            Iris Hypoplasia and Glaucoma 0
            Iris Neoplasms + 0
            aniridia + 24
            ciliary body disease + 0
            exfoliation syndrome 19
            iridocyclitis + 4
            iridogoniodysgenesis syndrome + 2
            iritis 0
Path 2
Term Annotations click to browse term
  disease 12770
    disease of anatomical entity 12302
      nervous system disease 10063
        sensory system disease 4826
          eye disease 2510
            uveal disease 207
              iris disease 52
                De Hauwere Leroy Adriaenssens syndrome 0
                EDICT Syndrome 0
                Heterochromia Iridis 4
                Iridocorneal Endothelial Syndrome + 0
                Iris Hypoplasia and Glaucoma 0
                Iris Neoplasms + 0
                aniridia + 24
                ciliary body disease + 0
                exfoliation syndrome 19
                iridocyclitis + 4
                iridogoniodysgenesis syndrome + 2
                iritis 0
paths to the root

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