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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 chr32:32,135,110...32,270,732
Ensembl chr32:32,136,738...32,267,264
JBrowse link
G ANK2 ankyrin 2 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr32:32,484,196...33,143,295
Ensembl chr32:32,671,281...33,141,036
JBrowse link
G AP1AR adaptor related protein complex 1 associated regulatory protein ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr32:32,083,077...32,123,857
Ensembl chr32:32,083,105...32,122,200
JBrowse link
G ARSJ arylsulfatase family member J ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr32:33,636,117...33,715,867
Ensembl chr32:33,635,467...33,716,434
JBrowse link
G CAMK2D calcium/calmodulin dependent protein kinase II delta ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr32:33,223,093...33,525,783
Ensembl chr32:33,224,716...33,525,371
JBrowse link
G DNAJC24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr18:35,935,826...36,024,062
Ensembl chr18:35,639,011...36,024,005
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 chr18:35,638,606...35,880,194
Ensembl chr18:35,639,011...36,024,005
JBrowse link
G FAM241A family with sequence similarity 241 member A ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr32:31,990,486...32,034,616
Ensembl chr32:31,990,621...32,029,631
JBrowse link
G GLIS3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by term: Aniridia ClinVar PMID:26893459 NCBI chr 1:92,278,521...92,824,303
Ensembl chr 1:92,282,164...92,734,468
JBrowse link
G GMDS GDP-mannose 4,6-dehydratase ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr35:2,108,459...2,519,902
Ensembl chr35:2,151,528...2,519,513
JBrowse link
G IMMP1L inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr18:35,880,278...35,963,128
Ensembl chr18:35,880,183...35,963,494
JBrowse link
G KIF21A kinesin family member 21A ISO ClinVar Annotator: match by term: Aniridia ClinVar PMID:26893459 NCBI chr27:14,205,980...14,328,281
Ensembl chr27:14,181,837...14,327,492
JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr32:32,421,648...32,439,431
Ensembl chr32:32,421,675...32,439,131
JBrowse link
G LOC475957 uncharacterized LOC475957 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr18:36,024,054...36,484,119 JBrowse link
G MIR302A microRNA mir-302a ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr32:32,429,209...32,429,277
Ensembl chr32:32,429,209...32,429,277
JBrowse link
G MIR302B microRNA mir-302b ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr32:32,429,500...32,429,574
Ensembl chr32:32,429,500...32,429,574
JBrowse link
G MIR302C microRNA mir-302c ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr32:32,429,366...32,429,433
Ensembl chr32:32,429,366...32,429,433
JBrowse link
G MIR302D microRNA mir-302d ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr32:32,429,032...32,429,101
Ensembl chr32:32,429,032...32,429,101
JBrowse link
G MIR367 microRNA mir-367 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr32:32,428,905...32,428,972
Ensembl chr32:32,428,905...32,428,972
JBrowse link
G NEUROG2 neurogenin 2 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr32:32,310,939...32,313,492
Ensembl chr32:32,312,097...32,312,915
JBrowse link
G SOX2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr34:14,853,000...14,855,153 JBrowse link
G TIFA TRAF interacting protein with forkhead associated domain ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr32:32,125,870...32,135,159
Ensembl chr32:32,126,634...32,127,191
JBrowse link
G TRIM44 tripartite motif containing 44 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:32,242,830...32,351,540
Ensembl chr18:32,247,146...32,351,648
JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000
JBrowse link
G ZGRF1 zinc finger GRF-type containing 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr32:32,344,348...32,421,485
Ensembl chr32:32,344,791...32,418,441
JBrowse link
Aniridia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr18:35,935,826...36,024,062
Ensembl chr18:35,639,011...36,024,005
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 chr18:35,638,606...35,880,194
Ensembl chr18:35,639,011...36,024,005
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 chr18:35,880,278...35,963,128
Ensembl chr18:35,880,183...35,963,494
JBrowse link
G LOC475957 uncharacterized LOC475957 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978, PMID:11284764, PMID:17630404, PMID:24138039, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chr18:36,024,054...36,484,119 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 chr18:35,373,175...35,393,389
Ensembl chr18:35,374,116...35,395,528
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 chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000
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 chr18:35,638,606...35,880,194
Ensembl chr18:35,639,011...36,024,005
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 chr18:32,242,830...32,351,540
Ensembl chr18:32,247,146...32,351,648
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 chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273
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 chr18:35,638,606...35,880,194
Ensembl chr18:35,639,011...36,024,005
JBrowse link
EDICT Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR184 microRNA mir-184 ISO OMIM NCBI chr 3:57,914,444...57,914,511
Ensembl chr 3:57,914,444...57,914,511
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 chr12:1,561,494...1,570,754
Ensembl chr12:1,558,684...1,568,962
JBrowse link
G APOE apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:15939044 RGD:7771555 NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25706626 NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032
JBrowse link
G CAV1 caveolin 1 no_association ISO DNA:SNP:promoter:rs4236601 (human) RGD PMID:20835238 RGD:8661783 NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935
JBrowse link
G CLU clusterin no_association ISO DNA:SNPs, haplotype: :multiple
DNA:SNP:intron:rs2279590 (human)
RGD PMID:16639006, PMID:18806885, PMID:19182256, PMID:25057782 RGD:8699505, RGD:8699516, RGD:8887372, RGD:9068391 NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563
JBrowse link
G EDN1 endothelin 1 ISO associated with Cataract;protein:increased expression:aqueous humor (human) RGD PMID:15031170 RGD:8661674 NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
JBrowse link
G ELN elastin ISO RGD PMID:7777294 RGD:9585736 NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325
JBrowse link
G LOXL1 lysyl oxidase like 1 susceptibility
no_association
ISO ClinVar Annotator: match by term: Exfoliation syndrome, susceptibility to
DNA:SNP: :p.R141L (rs1048661) (human)
DNA:SNP: :multiple
DNA:CNVs
DNA:SNP, haplotypes: :rs1048661, rs3825942 (human)
DNA:SNP:exon:rs1048661, rs3825942 (human)
DNA:SNPs:exon:p.R141L, p.G153D (human)
DNA:SNP, haplotypes:promoter:multiple
CTD Direct Evidence: marker/mechanism
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 chr30:37,191,201...37,204,163
Ensembl chr30:37,183,128...37,204,058
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 chr 8:47,657,618...47,758,257
Ensembl chr 8:47,659,363...47,760,938
JBrowse link
G MMP1 matrix metallopeptidase 1 no_association ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:20808730 RGD:8549725 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
JBrowse link
G MMP9 matrix metallopeptidase 9 no_association ISO DNA:insertion: :p.Q279R (rs17576) (human) RGD PMID:20808730 RGD:8549725 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G OPTN optineurin no_association ISO DNA:polymorphism: :p.M98K (human) RGD PMID:16020311 RGD:6480509 NCBI chr 2:23,356,471...23,390,569
Ensembl chr 2:23,357,237...23,392,511
JBrowse link
G POMP proteasome maturation protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr25:11,064,065...11,080,878 JBrowse link
G PON1 paraoxonase 1 ISO protein:decreased expression:serum (human) RGD PMID:19628957 RGD:8547685 NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
JBrowse link
G RBMS3 RNA binding motif single stranded interacting protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr23:14,448,399...15,733,941
Ensembl chr23:14,454,759...15,136,654
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 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
JBrowse link
G TLCD5 TLC domain containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr 5:13,673,059...13,681,139
Ensembl chr 5:13,675,878...13,681,287
JBrowse link
G TLR4 toll like receptor 4 susceptibility ISO DNA:haplotype:: RGD PMID:22831837 RGD:7794768 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
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 chr20:12,746,171...13,065,256
Ensembl chr20:12,747,315...13,064,198
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 chr26:38,700,434...38,714,915
Ensembl chr26:38,700,480...38,711,753
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 chr11:19,551,057...19,555,390 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 chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578
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 chr 8:26,636,849...26,698,837
Ensembl chr 8:26,637,895...26,717,781
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 chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO DNA:SNP:exon:p.R241G (human) RGD PMID:20445114 RGD:8547694 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G IL1A interleukin 1 alpha ISO associated with Arthritis, Juvenile;DNA:SNP:promoter:-889C>T (human) RGD PMID:8162643 RGD:7794716 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
JBrowse link
G LOC100856137 HLA class II histocompatibility antigen, DQ beta 2 chain susceptibility ISO associated with Juvenile pauciarticular chronic arthritis;DNA:polymorphism:cds:HLA-DQB1*0301 (human) RGD PMID:1625093 RGD:7421584 NCBI chr12:2,244,820...2,250,822
Ensembl chr12:2,244,820...2,251,662
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 chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273
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: 11p partial monosomy syndrome
ClinVar Annotator: match by term: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
ClinVar NCBI chr18:35,638,606...35,880,194
Ensembl chr18:35,639,011...36,024,005
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 chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12699
    sensory system disease 4836
      eye disease 2524
        uveal disease 212
          iris disease 55
            De Hauwere Leroy Adriaenssens syndrome 0
            EDICT Syndrome 1
            Heterochromia Iridis 4
            Iridocorneal Endothelial Syndrome + 0
            Iris Hypoplasia and Glaucoma 0
            Iris Neoplasms + 0
            aniridia + 27
            ciliary body disease + 0
            exfoliation syndrome 18
            iridocyclitis + 4
            iridogoniodysgenesis syndrome + 1
            iritis 0
Path 2
Term Annotations click to browse term
  disease 12699
    disease of anatomical entity 12239
      nervous system disease 10001
        sensory system disease 4836
          eye disease 2524
            uveal disease 212
              iris disease 55
                De Hauwere Leroy Adriaenssens syndrome 0
                EDICT Syndrome 1
                Heterochromia Iridis 4
                Iridocorneal Endothelial Syndrome + 0
                Iris Hypoplasia and Glaucoma 0
                Iris Neoplasms + 0
                aniridia + 27
                ciliary body disease + 0
                exfoliation syndrome 18
                iridocyclitis + 4
                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.