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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 chrNW_004936563:3,233,913...3,296,671 JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936563:3,520,195...4,170,716 JBrowse link
G Ap1ar adaptor related protein complex 1 associated regulatory protein ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936563:3,108,242...3,144,957 JBrowse link
G Arsj arylsulfatase family member J ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936563:4,653,070...4,728,820 JBrowse link
G Camk2d calcium/calmodulin dependent protein kinase II delta ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936563:4,226,412...4,526,139 JBrowse link
G Dcdc1 doublecortin domain containing 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936533:6,340,591...6,434,334 JBrowse link
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936533:6,289,490...6,340,506 JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital aniridia
ClinVar Annotator: match by term: Aniridia
CTD
ClinVar
NCBI chrNW_004936533:5,985,873...6,216,124 JBrowse link
G Fam241a family with sequence similarity 241 member A ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936563:3,011,476...3,048,477 JBrowse link
G Glis3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by term: Aniridia ClinVar PMID:26893459 NCBI chrNW_004936503:989,817...1,283,781 JBrowse link
G Gmds GDP-mannose 4,6-dehydratase ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936633:2,752,677...3,367,408 JBrowse link
G Immp1l inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936533:6,216,254...6,289,554 JBrowse link
G Kif21a kinesin family member 21A ISO ClinVar Annotator: match by term: Aniridia ClinVar PMID:26893459 NCBI chrNW_004936607:1,422,801...1,567,442 JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936563:3,455,205...3,474,955 JBrowse link
G Neurog2 neurogenin 2 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936563:3,348,052...3,350,623 JBrowse link
G Pax6 paired box 6 susceptibility ISO DNA:mutations:exon, intron:multiple (human)
ClinVar Annotator: match by term: Absent iris
ClinVar Annotator: match by term: Aniridia
ClinVar Annotator: match by term: Congenital aniridia
ClinVar Annotator: match by term: Aniridia, atypical
associated with Nystagmus, Congenital;DNA:insertion:exon:c.888insA(human)
DNA:deletion, snp:cds:p.R38GfsX16, p.S121L (human)
DNA:deletions:cds:c.170-174delTGGGC, c.475delC (human)
DNA:deletion:cds:p.Q297HfsX68 (human)
associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human)
DNA:nonsense mutation:cds:p.R240X (human)
DNA:frameshift mutation:cds:p.P418SfsX87 (human)
DNA:snps, nonsense mutation:introns, cds:IVS5a+1G>A, IVS8-1G>A, p.Q215X (mouse)
DNA:deletion:cds:p.R38PfsX12 (human)
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9138149, PMID:9931324, PMID:16080917, PMID:16303964, PMID:17417613, PMID:18322702, PMID:18776953, PMID:19862335, PMID:20664694, PMID:22171157, PMID:22393272, PMID:22550392, PMID:22815628, PMID:23734086, PMID:25366758, PMID:25741868, PMID:30221735 RGD:12790966, RGD:1601209, RGD:8551856, RGD:8551858, RGD:8551859, RGD:8551860, RGD:8551870, RGD:8551879, RGD:8552246, RGD:8552277, RGD:8552301 NCBI chrNW_004936533:5,952,529...5,980,889 JBrowse link
G Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chrNW_004936566:1,630,698...1,632,607 JBrowse link
G Tifa TRAF interacting protein with forkhead associated domain ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936563:3,151,515...3,159,071 JBrowse link
G Trim44 tripartite motif containing 44 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936533:2,440,241...2,548,831 JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936533:5,411,949...5,459,693 JBrowse link
G Zgrf1 zinc finger GRF-type containing 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chrNW_004936563:3,372,603...3,455,123 JBrowse link
Aniridia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc1 doublecortin domain containing 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978, PMID:11284764, PMID:17630404, PMID:24138039, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chrNW_004936533:6,340,591...6,434,334 JBrowse link
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978, PMID:11284764, PMID:17630404, PMID:24138039, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chrNW_004936533:6,289,490...6,340,506 JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978, PMID:11284764, PMID:11309364, PMID:11431688, PMID:12552561, PMID:12731001, PMID:16098226, PMID:17630404, PMID:18483559, PMID:24138039, PMID:24290376, PMID:25741868, PMID:26661695, PMID:27124303, PMID:27431685, PMID:28321846, PMID:28492532, PMID:29618921 NCBI chrNW_004936533:5,985,873...6,216,124 JBrowse link
G Immp1l inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978, PMID:11284764, PMID:17630404, PMID:24138039, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chrNW_004936533:6,216,254...6,289,554 JBrowse link
G Pax6 paired box 6 ISO OMIM NCBI chrNW_004936533:5,952,529...5,980,889 JBrowse link
G Rcn1 reticulocalbin 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:17630404, PMID:24138039, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chrNW_004936533:5,685,053...5,693,518 JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:8975729, PMID:9090524, PMID:17630404, PMID:23349334, PMID:24138039, PMID:25741868, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chrNW_004936533:5,411,949...5,459,693 JBrowse link
Aniridia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO OMIM NCBI chrNW_004936533:5,985,873...6,216,124 JBrowse link
Aniridia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trim44 tripartite motif containing 44 ISO OMIM NCBI chrNW_004936533:2,440,241...2,548,831 JBrowse link
anterior segment dysgenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired like homeodomain 2 ISO OMIM NCBI chrNW_004936563:1,713,294...1,732,431 JBrowse link
Chromosome 11p Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar NCBI chrNW_004936533:5,985,873...6,216,124 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:9727514, PMID:12868034, PMID:15086958, PMID:17417613, PMID:18776953, PMID:25741868, PMID:28492532 NCBI chrNW_004936533:5,952,529...5,980,889 JBrowse link
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 chrNW_004936727:1,425,784...1,434,921 JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:15939044 RGD:7771555 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25706626 NCBI chrNW_004936659:2,201,606...2,269,625 JBrowse link
G Cav1 caveolin 1 no_association ISO DNA:SNP:promoter:rs4236601 (human) RGD PMID:20835238 RGD:8661783 NCBI chrNW_004936589:2,504,235...2,536,778 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 chrNW_004936675:499,745...513,515 JBrowse link
G Edn1 endothelin 1 ISO associated with Cataract;protein:increased expression:aqueous humor (human) RGD PMID:15031170 RGD:8661674 NCBI chrNW_004936534:885,489...892,292 JBrowse link
G Eln elastin ISO RGD PMID:7777294 RGD:9585736 NCBI chrNW_004936543:3,135,169...3,165,023 JBrowse link
G LOC101956249 optineurin no_association ISO DNA:polymorphism: :p.M98K (human) RGD PMID:16020311 RGD:6480509 NCBI chrNW_004936862:488,591...516,819 JBrowse link
G Loxl1 lysyl oxidase like 1 susceptibility
no_association
ISO ClinVar Annotator: match by term: Exfoliation syndrome, susceptibility to
DNA:SNPs:exon:p.R141L, p.G153D (human)
DNA:CNVs
DNA:SNP:exon:rs1048661, rs3825942 (human)
DNA:SNP: :p.R141L (rs1048661) (human)
DNA:SNP, haplotypes: :rs1048661, rs3825942 (human)
DNA:SNP, haplotypes:promoter:multiple
CTD Direct Evidence: marker/mechanism
DNA:SNP: :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 chrNW_004936471:33,075,542...33,099,877 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 chrNW_004936488:3,682,044...3,790,988 JBrowse link
G Mmp1 matrix metallopeptidase 1 no_association ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:20808730 RGD:8549725 NCBI chrNW_004936551:5,167,909...5,175,149 JBrowse link
G Mmp9 matrix metallopeptidase 9 no_association ISO DNA:insertion: :p.Q279R (rs17576) (human) RGD PMID:20808730 RGD:8549725 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Pomp proteasome maturation protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chrNW_004936472:23,754,683...23,770,590 JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased expression:serum (human) RGD PMID:19628957 RGD:8547685 NCBI chrNW_004936585:4,954,871...4,979,560 JBrowse link
G Rbms3 RNA binding motif single stranded interacting protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chrNW_004936473:20,169,383...20,828,355 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 chrNW_004936489:11,178,338...11,191,601 JBrowse link
G Tlcd5 TLC domain containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chrNW_004936542:5,186,445...5,192,015 JBrowse link
G Tlr4 toll like receptor 4 susceptibility ISO DNA:haplotype:: RGD PMID:22831837 RGD:7794768 NCBI chrNW_004936487:6,519,140...6,532,018 JBrowse link
Gillespie syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itpr1 inositol 1,4,5-trisphosphate receptor type 1 ISO OMIM NCBI chrNW_004936577:3,896,455...4,198,396 JBrowse link
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 chrNW_004936735:266,918...283,858 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 chrNW_004936647:3,843,544...3,849,428 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 chrNW_004936603:1,682,411...1,858,295 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 chrNW_004936495:15,286,524...15,365,598 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 chrNW_004936631:484,356...489,643 JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO DNA:SNP:exon:p.R241G (human) RGD PMID:20445114 RGD:8547694 NCBI chrNW_004936659:616,570...627,172 JBrowse link
G Il1a interleukin 1 alpha ISO associated with Arthritis, Juvenile;DNA:SNP:promoter:-889C>T (human) RGD PMID:8162643 RGD:7794716 NCBI chrNW_004936783:1,210,715...1,218,315 JBrowse link
iridogoniodysgenesis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Iridogoniodysgenesis syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004936563:1,713,294...1,732,431 JBrowse link
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 chrNW_004936533:5,985,873...6,216,124 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 chrNW_004936533:5,952,529...5,980,889 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 chrNW_004936533:5,411,949...5,459,693 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11962
    sensory system disease 4631
      eye disease 2419
        uveal disease 195
          iris disease 49
            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 + 23
            ciliary body disease + 0
            exfoliation syndrome 18
            iridocyclitis + 3
            iridogoniodysgenesis syndrome + 1
            iritis 0
Path 2
Term Annotations click to browse term
  disease 11962
    disease of anatomical entity 11526
      nervous system disease 9457
        sensory system disease 4631
          eye disease 2419
            uveal disease 195
              iris disease 49
                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 + 23
                ciliary body disease + 0
                exfoliation syndrome 18
                iridocyclitis + 3
                iridogoniodysgenesis syndrome + 1
                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.