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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:aniridia
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Accession:DOID:12271 term browser browse the term
Definition:An iris disease that is characterized by a complete or partial absence of the colored part of the eye. (DO)
Synonyms:exact_synonym: AN;   absent iris;   aplasia of iris;   congenital aniridia;   irideremia;   isolated aniridia
 narrow_synonym: CATARACT, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY;   atypical aniridia
 primary_id: MESH:D015783
 xref: EFO:0004132;   GARD:5816;   ICD10CM:Q13.1;   ICD9CM:743.45;   MONDO:0019172;   NCI:C84563;   OMIM:PS106210;   ORDO:250923
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: Congenital aniridia ClinVar NCBI chr 3:127,460,367...127,574,195
Ensembl chr 3:127,463,959...127,574,176 		JBrowse link
G Ank2 ankyrin 2, brain ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:126,715,256...127,293,996
Ensembl chr 3:126,715,261...127,292,999 		JBrowse link
G Ap1ar adaptor-related protein complex 1 associated regulatory protein ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:127,600,656...127,631,148
Ensembl chr 3:127,600,656...127,631,172 		JBrowse link
G Arsj arylsulfatase J ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:126,157,566...126,234,025
Ensembl chr 3:126,157,333...126,234,024 		JBrowse link
G Camk2d calcium/calmodulin-dependent protein kinase II, delta ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:126,389,136...126,639,975
Ensembl chr 3:126,389,951...126,639,975 		JBrowse link
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 2:105,797,053...105,833,894
Ensembl chr 2:105,797,054...105,833,894 		JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital aniridia		 CTD
ClinVar		 PMID:28492532 NCBI chr 2:105,527,665...105,734,909
Ensembl chr 2:105,531,372...105,734,909 		JBrowse link
G Fam241a family with sequence similarity 241, member A ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:127,663,337...127,689,972
Ensembl chr 3:127,662,707...127,689,973 		JBrowse link
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Glis3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar PMID:26893459 NCBI chr19:28,236,251...28,657,684
Ensembl chr19:28,236,251...28,657,477 		JBrowse link
G Gm9342 predicted gene 9342 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 2:105,833,679...106,236,532
Ensembl chr 2:105,868,563...106,234,411 		JBrowse link
G Gmds GDP-mannose 4, 6-dehydratase ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr13:32,003,566...32,522,744
Ensembl chr13:32,003,562...32,522,723 		JBrowse link
G Immp1l IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 2:105,735,013...105,795,904
Ensembl chr 2:105,734,983...105,795,903 		JBrowse link
G Kif21a kinesin family member 21A ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar PMID:26893459 NCBI chr15:90,817,478...90,934,547
Ensembl chr15:90,817,479...90,934,151 		JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:127,330,363...127,346,998
Ensembl chr 3:127,330,363...127,346,998 		JBrowse link
G LOC105980007 RB enhancer downstream of Pax6 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 2:105,662,588...105,664,788 JBrowse link
G LOC106003270 enhancer region in intron 7 of Pax6 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 2:105,516,998...105,522,385 JBrowse link
G LOC106007492 enhancer in intron 4 of Pax6 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 2:105,512,072...105,513,198 JBrowse link
G LOC106014250 Pax6 upstream regulatory region ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 2:105,490,598...105,506,398 JBrowse link
G LOC106660621 Sox2 5' regulatory region ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:34,698,540...34,704,381 JBrowse link
G Mir302a microRNA 302a ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:127,339,145...127,339,213
Ensembl chr 3:127,339,145...127,339,213 		JBrowse link
G Mir302b microRNA 302b ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:127,338,877...127,338,950
Ensembl chr 3:127,338,877...127,338,950 		JBrowse link
G Mir302c microRNA 302c ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:127,339,012...127,339,079
Ensembl chr 3:127,339,012...127,339,079 		JBrowse link
G Mir302d microRNA 302d ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:127,339,273...127,339,338
Ensembl chr 3:127,339,273...127,339,338 		JBrowse link
G Mir367 microRNA 367 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:127,339,382...127,339,456
Ensembl chr 3:127,339,382...127,339,456 		JBrowse link
G Neurog2 neurogenin 2 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:127,426,382...127,429,285
Ensembl chr 3:127,426,784...127,429,280 		JBrowse link
G Pax6 paired box 6 susceptibility ISO
IAGP
IMP		 DNA:mutations:exon, intron:multiple (human)
ClinVar Annotator: match by term: Aniridia, atypical | ClinVar Annotator: match by term: Congenital aniridia
CTD Direct Evidence: marker/mechanism
OMIM:106210
DNA:deletion, snp:cds:p.R38GfsX16, p.S121L (human)
DNA:deletion:cds:p.R38PfsX12 (human)
DNA:deletion:cds:p.Q297HfsX68 (human)
DNA:nonsense mutation:cds:p.R240X (human)
DNA:deletions:cds:c.170-174delTGGGC, c.475delC (human)
DNA:snps, nonsense mutation:introns, cds:IVS5a+1G>A, IVS8-1G>A, p.Q215X (mouse)
associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human)
DNA:frameshift mutation:cds:p.P418SfsX87 (human)
associated with Nystagmus, Congenital;DNA:insertion:exon:c.888insA(human)		 ClinVar
CTD
MouseDO
RGD		 PMID:9931324 PMID:14744876 PMID:17417613 PMID:18322702 PMID:18776953 More... RGD:1601209, RGD:8551856, RGD:8551858, RGD:8551859, RGD:8551860, RGD:8551870, RGD:8551879, RGD:8552246, RGD:8552277, RGD:8552301, RGD:12790966 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Pax6drr Pax6 downstream regulatory region ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 2:105,608,788...105,630,188 JBrowse link
G Sox2 SRY (sex determining region Y)-box 2 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:34,704,144...34,706,610
Ensembl chr 3:34,704,554...34,706,610 		JBrowse link
G Sox2ot SOX2 overlapping transcript (non-protein coding) ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:34,614,530...34,732,142
Ensembl chr 3:34,158,419...34,736,768 		JBrowse link
G Tifa TRAF-interacting protein with forkhead-associated domain ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:127,582,524...127,592,043
Ensembl chr 3:127,583,454...127,625,813 		JBrowse link
G Trim44 tripartite motif-containing 44 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:102,130,464...102,231,541
Ensembl chr 2:102,130,464...102,238,173 		JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961 		JBrowse link
G Zgrf1 zinc finger, GRF-type containing 1 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 3:127,347,080...127,411,672
Ensembl chr 3:127,347,138...127,411,672 		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:15150775 PMID:17630404 PMID:24138039 More... NCBI chr 2:105,797,053...105,833,894
Ensembl chr 2:105,797,054...105,833,894 		JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:8364574 PMID:10234503 PMID:10737978 PMID:11284764 PMID:11309364 More... NCBI chr 2:105,527,665...105,734,909
Ensembl chr 2:105,531,372...105,734,909 		JBrowse link
G Gm9342 predicted gene 9342 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 More... NCBI chr 2:105,833,679...106,236,532
Ensembl chr 2:105,868,563...106,234,411 		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:15150775 PMID:17630404 PMID:24138039 More... NCBI chr 2:105,735,013...105,795,904
Ensembl chr 2:105,734,983...105,795,903 		JBrowse link
G LOC106003270 enhancer region in intron 7 of Pax6 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:28492532 NCBI chr 2:105,516,998...105,522,385 JBrowse link
G LOC106007492 enhancer in intron 4 of Pax6 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:28492532 NCBI chr 2:105,512,072...105,513,198 JBrowse link
G LOC106014250 Pax6 upstream regulatory region ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:25741868 NCBI chr 2:105,490,598...105,506,398 JBrowse link
G LOC107983946 Wt1 promoter region ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:104,956,361...104,957,127 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:1345175 PMID:1684738 PMID:1954207 More... NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		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 2:105,608,788...105,630,188 JBrowse link
G Rcn1 reticulocalbin 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 2:105,216,293...105,229,664
Ensembl chr 2:105,216,636...105,229,664 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961 		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 ClinVar Annotator: match by term: Aniridia 2 OMIM
ClinVar		 PMID:25741868 PMID:26010655 PMID:28492532 NCBI chr 2:105,527,665...105,734,909
Ensembl chr 2:105,531,372...105,734,909 		JBrowse link
G Pax6drr Pax6 downstream regulatory region ISO ClinVar Annotator: match by term: Aniridia 2 ClinVar PMID:25741868 PMID:26010655 NCBI chr 2:105,608,788...105,630,188 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 OMIM
ClinVar		 PMID:25741868 PMID:26394807 NCBI chr 2:102,130,464...102,231,541
Ensembl chr 2:102,130,464...102,238,173 		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 PMID:28492532 NCBI chr 2:105,527,665...105,734,909
Ensembl chr 2:105,531,372...105,734,909 		JBrowse link
G LOC106014250 Pax6 upstream regulatory region ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar NCBI chr 2:105,490,598...105,506,398 JBrowse link
G LOC107983946 Wt1 promoter region ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:8621495 PMID:12640141 PMID:15266301 PMID:16987884 PMID:25741868 More... NCBI chr 2:104,956,361...104,957,127 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:9727514 PMID:10234503 PMID:12634864 PMID:12868034 PMID:15086958 More... NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aniridia-cerebellar ataxia-intellectual disability syndrome | ClinVar Annotator: match by term: Gillespie syndrome		 OMIM
CTD
ClinVar		 PMID:7952360 PMID:9536098 PMID:10664581 PMID:17558851 PMID:17576681 More... NCBI chr 6:108,190,044...108,528,077
Ensembl chr 6:108,190,057...108,528,070 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Gillespie syndrome ClinVar PMID:25741868 PMID:26899008 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		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-Gonadoblastoma-Mental Retardation syndrome ClinVar PMID:28492532 NCBI chr 2:105,527,665...105,734,909
Ensembl chr 2:105,531,372...105,734,909 		JBrowse link
G LOC106014250 Pax6 upstream regulatory region ISO ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome ClinVar NCBI chr 2:105,490,598...105,506,398 JBrowse link
G LOC107983946 Wt1 promoter region ISO ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: CHROMOSOME 11p13 DELETION SYNDROME | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome ClinVar PMID:8621495 PMID:12640141 PMID:15266301 PMID:16987884 PMID:25741868 More... NCBI chr 2:104,956,361...104,957,127 JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome		 CTD
ClinVar		 PMID:9727514 PMID:10234503 PMID:12634864 PMID:12868034 PMID:15086958 More... NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: CHROMOSOME 11p13 DELETION SYNDROME | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... RGD:1331525 NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    sensory system disease 6828
      eye disease 3477
        Eye Abnormalities 790
          aniridia 37
            Aniridia 2 2
            Aniridia 3 1
            Aniridia and Absent Patella 0
            Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 0
            Gillespie syndrome 2
            Partial Aniridia with Unilateral Renal Agenesis and Psychomotor Retardation 0
            WAGR syndrome + 5
            Walker Dyson Syndrome 0
            Zazam Sheriff Phillips Syndrome 0
            aniridia 1 12
Path 2
Term Annotations click to browse term
  disease 16121
    disease of anatomical entity 15680
      nervous system disease 13560
        Neurologic Manifestations 9852
          sensory system disease 6828
            eye disease 3477
              uveal disease 248
                iris disease 68
                  aniridia 37
                    Aniridia 2 2
                    Aniridia 3 1
                    Aniridia and Absent Patella 0
                    Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 0
                    Gillespie syndrome 2
                    Partial Aniridia with Unilateral Renal Agenesis and Psychomotor Retardation 0
                    WAGR syndrome + 5
                    Walker Dyson Syndrome 0
                    Zazam Sheriff Phillips Syndrome 0
                    aniridia 1 12
paths to the root