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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 3:127,666,718...127,780,547
Ensembl chr 3:127,670,310...127,780,527
JBrowse link
G Ank2 ankyrin 2, brain ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 3:126,921,607...127,500,347
Ensembl chr 3:126,921,612...127,499,350
JBrowse link
G Ap1ar adaptor-related protein complex 1 associated regulatory protein ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 3:127,807,007...127,837,523
Ensembl chr 3:127,807,007...127,837,523
JBrowse link
G Arsj arylsulfatase J ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 3:126,363,852...126,440,374
Ensembl chr 3:126,363,684...126,440,375
JBrowse link
G Camk2d calcium/calmodulin-dependent protein kinase II, delta ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 3:126,595,487...126,846,326
Ensembl chr 3:126,596,302...126,846,326
JBrowse link
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:105,966,708...106,003,549
Ensembl chr 2:105,966,709...106,003,549
JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Aniridia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 2:105,697,320...105,904,564
Ensembl chr 2:105,701,027...105,904,564
JBrowse link
G Fam241a family with sequence similarity 241, member A ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 3:127,869,688...127,896,323
Ensembl chr 3:127,869,058...127,896,324
JBrowse link
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr13:31,806,646...31,810,635
Ensembl chr13:31,806,633...31,812,476
JBrowse link
G Glis3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by term: Aniridia ClinVar PMID:26893459 NCBI chr19:28,258,851...28,680,265
Ensembl chr19:28,258,851...28,680,077
JBrowse link
G Gm9342 predicted gene 9342 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:106,038,218...106,053,528 JBrowse link
G Gmds GDP-mannose 4, 6-dehydratase ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr13:31,819,583...32,338,762
Ensembl chr13:31,819,579...32,338,740
JBrowse link
G Immp1l IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:105,904,638...105,965,558
Ensembl chr 2:105,904,638...105,965,558
JBrowse link
G Kif21a kinesin family member 21A ISO ClinVar Annotator: match by term: Aniridia ClinVar PMID:26893459 NCBI chr15:90,933,275...91,050,382
Ensembl chr15:90,933,276...91,049,948
JBrowse link
G Larp7 La ribonucleoprotein domain family, member 7 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 3:127,536,714...127,553,349
Ensembl chr 3:127,536,714...127,553,349
JBrowse link
G LOC105980007 RB enhancer downstream of Pax6 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 2:105,832,243...105,834,443 JBrowse link
G LOC106003270 enhancer region in intron 7 of Pax6 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 2:105,686,653...105,691,253 JBrowse link
G LOC106007492 enhancer in intron 4 of Pax6 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 2:105,681,727...105,682,853 JBrowse link
G LOC106014250 Pax6 upstream regulatory region ISO ClinVar Annotator: match by term: Absent iris ClinVar NCBI chr 2:105,660,253...105,676,053 JBrowse link
G Mir302a microRNA 302a ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:127,545,496...127,545,564
Ensembl chr 3:127,545,496...127,545,564
JBrowse link
G Mir302b microRNA 302b ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:127,545,228...127,545,301
Ensembl chr 3:127,545,228...127,545,301
JBrowse link
G Mir302c microRNA 302c ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:127,545,363...127,545,430
Ensembl chr 3:127,545,363...127,545,430
JBrowse link
G Mir302d microRNA 302d ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:127,545,624...127,545,689
Ensembl chr 3:127,545,624...127,545,689
JBrowse link
G Mir367 microRNA 367 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:127,545,733...127,545,807
Ensembl chr 3:127,545,733...127,545,807
JBrowse link
G Neurog2 neurogenin 2 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 3:127,632,733...127,635,636
Ensembl chr 3:127,633,135...127,635,631
JBrowse link
G Pax6 paired box 6 susceptibility ISO
IEA
IMP
IAGP
DNA:mutations:exon, intron:multiple (human)
CTD Direct Evidence: marker/mechanism
OMIM:106210
associated with Nystagmus, Congenital;DNA:insertion:exon:c.888insA(human)
ClinVar Annotator: match by term: Aniridia
ClinVar Annotator: match by OMIM:106210
ClinVar Annotator: match by term: Aniridia, atypical
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)
CTD
MouseDO
ClinVar
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 chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364
JBrowse link
G Pax6drr Pax6 downstream regulatory region ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 2:105,778,443...105,799,843 JBrowse link
G Sox2 SRY (sex determining region Y)-box 2 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:34,649,995...34,652,461
Ensembl chr 3:34,650,405...34,652,461
JBrowse link
G Sox2ot SOX2 overlapping transcript (non-protein coding) ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:34,560,381...34,677,993
Ensembl chr 3:34,104,270...34,682,619
JBrowse link
G Tifa TRAF-interacting protein with forkhead-associated domain ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 3:127,788,875...127,798,394
Ensembl chr 3:127,789,805...127,832,164
JBrowse link
G Trim44 tripartite motif-containing 44 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:102,300,119...102,400,900
Ensembl chr 2:102,300,119...102,407,828
JBrowse link
G Wt1 Wilms tumor 1 homolog ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:105,126,529...105,173,614
Ensembl chr 2:105,126,529...105,173,616
JBrowse link
G Zgrf1 zinc finger, GRF-type containing 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 3:127,553,396...127,618,023
Ensembl chr 3:127,553,489...127,618,023
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 chr 2:105,966,708...106,003,549
Ensembl chr 2:105,966,709...106,003,549
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 chr 2:105,697,320...105,904,564
Ensembl chr 2:105,701,027...105,904,564
JBrowse link
G Gm9342 predicted gene 9342 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978, PMID:11284764, PMID:17630404, PMID:24138039, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chr 2:106,038,218...106,053,528 JBrowse link
G Immp1l IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978, PMID:11284764, PMID:17630404, PMID:24138039, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chr 2:105,904,638...105,965,558
Ensembl chr 2:105,904,638...105,965,558
JBrowse link
G LOC106003270 enhancer region in intron 7 of Pax6 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:17630404, PMID:24138039, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chr 2:105,686,653...105,691,253 JBrowse link
G LOC106007492 enhancer in intron 4 of Pax6 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:17630404, PMID:24138039, PMID:26661695, PMID:27124303, PMID:28492532 NCBI chr 2:105,681,727...105,682,853 JBrowse link
G LOC106014250 Pax6 upstream regulatory region ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:25741868 NCBI chr 2:105,660,253...105,676,053 JBrowse link
G LOC107983946 Wt1 promoter region ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:23349334, PMID:25741868, PMID:28492532 NCBI chr 2:105,126,016...105,126,782 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Aniridia 1
ClinVar Annotator: match by term: Cataracts, congenital, with late-onset corneal dystrophy
OMIM
ClinVar
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 chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364
JBrowse link
G Pax6drr Pax6 downstream regulatory region ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:18483559, PMID:24290376, PMID:28492532 NCBI chr 2:105,778,443...105,799,843 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 chr 2:105,385,948...105,399,319
Ensembl chr 2:105,386,291...105,399,319
JBrowse link
G Wt1 Wilms tumor 1 homolog 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 chr 2:105,126,529...105,173,614
Ensembl chr 2:105,126,529...105,173,616
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 chr 2:105,697,320...105,904,564
Ensembl chr 2:105,701,027...105,904,564
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 ClinVar Annotator: match by term: ANIRIDIA 3 ClinVar
OMIM
PMID:26394807 NCBI chr 2:102,300,119...102,400,900
Ensembl chr 2:102,300,119...102,407,828
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 ClinVar Annotator: match by term: Anterior segment dysgenesis 3
ClinVar Annotator: match by term: Iridogoniodysgenesis type1
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9620769, PMID:9792859, PMID:11007653, PMID:11170889, PMID:12036988, PMID:19668217, PMID:19793056, PMID:25741868, PMID:28492532, PMID:32832252 NCBI chr13:31,806,646...31,810,635
Ensembl chr13:31,806,633...31,812,476
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 transcription factor 2 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 4
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 4
ClinVar Annotator: match by term: Iridogoniodysgenesis, dominant type
ClinVar Annotator: match by OMIM:137600
OMIM
ClinVar
CTD
PMID:7581385, PMID:8942889, PMID:9437321, PMID:9618168, PMID:10502778, PMID:25741868, PMID:28492532, PMID:32499604 NCBI chr 3:129,199,878...129,219,594
Ensembl chr 3:129,199,878...129,219,591
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 chr 2:105,697,320...105,904,564
Ensembl chr 2:105,701,027...105,904,564
JBrowse link
G LOC106014250 Pax6 upstream regulatory region ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar NCBI chr 2:105,660,253...105,676,053 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 chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364
JBrowse link
EDICT Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir184 microRNA 184 ISO ClinVar Annotator: match by term: Edict syndrome OMIM
ClinVar
PMID:11874753, PMID:14638698, PMID:21996275, PMID:22131394 NCBI chr 9:89,802,260...89,802,328
Ensembl chr 9:89,802,260...89,802,328
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 (lysophosphatidic acid acyltransferase, alpha) ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr17:34,604,195...34,613,449
Ensembl chr17:34,604,262...34,613,449
JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:15939044 RGD:7771555 NCBI chr 7:19,696,244...19,701,310
Ensembl chr 7:19,696,109...19,699,188
JBrowse link
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25706626 NCBI chr 8:84,338,631...84,640,251
Ensembl chr 8:84,338,639...84,640,246
JBrowse link
G Cav1 caveolin 1, caveolae protein no_association ISO DNA:SNP:promoter:rs4236601 (human) RGD PMID:20835238 RGD:8661783 NCBI chr 6:17,306,335...17,341,328
Ensembl chr 6:17,306,335...17,341,452
JBrowse link
G Clu clusterin no_association ISO 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 chr14:65,968,483...65,981,548
Ensembl chr14:65,968,483...65,981,547
JBrowse link
G Edn1 endothelin 1 ISO associated with Cataract;protein:increased expression:aqueous humor (human) RGD PMID:15031170 RGD:8661674 NCBI chr13:42,301,476...42,307,990
Ensembl chr13:42,301,476...42,307,990
JBrowse link
G Eln elastin ISO RGD PMID:7777294 RGD:9585736 NCBI chr 5:134,702,595...134,747,368
Ensembl chr 5:134,702,593...134,747,323
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility
no_association
ISO DNA:deletion, haplotype:cds (human)
DNA:deletion:cds (human)
RGD PMID:18334963, PMID:16020292 RGD:7488955, RGD:7495792 NCBI chr 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility
no_association
ISO DNA:deletion:cds (human)
mRNA:decreased expression:ciliary processes, iris (human)
RGD PMID:21151336, PMID:18055805, PMID:16020292 RGD:7794822, RGD:7794853, RGD:7495792 NCBI chr10:75,783,813...75,798,584
Ensembl chr10:75,783,813...75,798,584
JBrowse link
G Loxl1 lysyl oxidase-like 1 susceptibility
no_association
ISO
IEA
IAGP
DNA:SNP: :p.R141L (rs1048661) (human)
ClinVar Annotator: match by term: Exfoliation syndrome, susceptibility to
OMIM:177650
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
MouseDO
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 chr 9:58,287,723...58,313,212
Ensembl chr 9:58,287,738...58,313,186
JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Exfoliation Syndrome
ClinVar Annotator: match by term: Pseudoexfoliation glaucoma
ClinVar PMID:23401661, PMID:28492532 NCBI chr12:84,783,212...84,876,558
Ensembl chr12:84,783,212...84,876,532
JBrowse link
G Lyst lysosomal trafficking regulator IEA OMIM:177650 MouseDO NCBI chr13:13,590,311...13,778,803
Ensembl chr13:13,590,397...13,778,803
JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) no_association ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:20808730 RGD:8549725 NCBI chr 9:7,464,141...7,476,869
Ensembl chr 9:7,464,141...7,476,869
JBrowse link
G Mmp9 matrix metallopeptidase 9 no_association ISO DNA:insertion: :p.Q279R (rs17576) (human) RGD PMID:20808730 RGD:8549725 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Optn optineurin no_association ISO DNA:polymorphism: :p.M98K (human) RGD PMID:16020311 RGD:6480509 NCBI chr 2:5,020,521...5,064,399
Ensembl chr 2:5,020,642...5,064,051
JBrowse link
G Pomp proteasome maturation protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr 5:147,860,628...147,875,784
Ensembl chr 5:147,860,461...147,876,456
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased expression:serum (human) RGD PMID:19628957 RGD:8547685 NCBI chr 6:5,168,090...5,193,987
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Rbms3 RNA binding motif, single stranded interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr 9:116,572,746...117,629,913
Ensembl chr 9:116,572,746...117,872,584
Ensembl chr 9:116,572,746...117,872,584
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO 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 chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Tlcd5 TLC domain containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr 9:43,108,650...43,116,693
Ensembl chr 9:43,108,650...43,116,570
JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:haplotype:: RGD PMID:22831837 RGD:7794768 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
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 1 ISO 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 6:108,213,083...108,551,116
Ensembl chr 6:108,213,096...108,551,109
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, aorta ISO ClinVar Annotator: match by term: Heterochromia iridis ClinVar PMID:30311386 NCBI chr19:34,240,336...34,255,585
Ensembl chr19:34,241,090...34,255,590
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 chr11:54,866,383...54,870,506
Ensembl chr11:54,866,383...54,870,501
JBrowse link
G Mitf melanogenesis associated transcription factor ISO ClinVar Annotator: match by term: Heterochromia iridis ClinVar PMID:8659547, PMID:9856573, PMID:25741868, PMID:30311386 NCBI chr 6:97,807,002...98,021,360
Ensembl chr 6:97,807,052...98,021,349
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 chr12:69,583,761...69,681,852
Ensembl chr12:69,583,762...69,681,852
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 chr 1:60,909,025...60,915,832
Ensembl chr 1:60,887,000...60,915,832
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO associated with Juvenile pauciarticular chronic arthritis;DNA:polymorphism:cds:HLA-DQB1*0301 (human) RGD PMID:1625093 RGD:7421584 NCBI chr17:34,263,227...34,269,418
Ensembl chr17:34,257,689...34,269,419
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO DNA:SNP:exon:p.R241G (human) RGD PMID:20445114 RGD:8547694 NCBI chr 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
JBrowse link
G Il1a interleukin 1 alpha ISO associated with Arthritis, Juvenile;DNA:SNP:promoter:-889C>T (human) RGD PMID:8162643 RGD:7794716 NCBI chr 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
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 transcription factor 2 ISO ClinVar Annotator: match by term: Iridogoniodysgenesis syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:129,199,878...129,219,594
Ensembl chr 3:129,199,878...129,219,591
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 NCBI chr 2:105,697,320...105,904,564
Ensembl chr 2:105,701,027...105,904,564
JBrowse link
G LOC106014250 Pax6 upstream regulatory region ISO ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome ClinVar NCBI chr 2:105,660,253...105,676,053 JBrowse link
G LOC107983946 Wt1 promoter region ISO ClinVar Annotator: match by term: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome ClinVar NCBI chr 2:105,126,016...105,126,782 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:194072
ClinVar
CTD
PMID:9727514, PMID:12868034, PMID:15086958, PMID:17417613, PMID:18776953, PMID:25741868, PMID:28492532 NCBI chr 2:105,668,896...105,698,410
Ensembl chr 2:105,668,900...105,697,364
JBrowse link
G Wt1 Wilms tumor 1 homolog ISO ClinVar Annotator: match by OMIM:194072
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15118671 RGD:1331525 NCBI chr 2:105,126,529...105,173,614
Ensembl chr 2:105,126,529...105,173,616
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13427
    sensory system disease 5054
      eye disease 2650
        uveal disease 232
          iris disease 67
            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 + 36
            ciliary body disease + 0
            exfoliation syndrome 21
            iridocyclitis + 4
            iridogoniodysgenesis syndrome + 2
            iritis 0
Path 2
Term Annotations click to browse term
  disease 13427
    disease of anatomical entity 12903
      nervous system disease 10459
        sensory system disease 5054
          eye disease 2650
            uveal disease 232
              iris disease 67
                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 + 36
                ciliary body disease + 0
                exfoliation syndrome 21
                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.