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.
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Alpk1
alpha-kinase 1
ISO
ClinVar Annotator: match by term: Aniridia
ClinVar
NCBI chr 2:231,997,360...232,117,471
Ensembl chr 2:231,996,088...232,117,134
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Ank2
ankyrin 2
ISO
ClinVar Annotator: match by term: Aniridia
ClinVar
NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
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Ap1ar
adaptor-related protein complex 1 associated regulatory protein
ISO
ClinVar Annotator: match by term: Aniridia
ClinVar
NCBI chr 2:232,146,418...232,178,813
Ensembl chr 2:232,147,690...232,178,671
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Arsj
arylsulfatase family, member J
ISO
ClinVar Annotator: match by term: Aniridia
ClinVar
NCBI chr 2:230,163,014...230,662,084
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Camk2d
calcium/calmodulin-dependent protein kinase II delta
ISO
ClinVar Annotator: match by term: Aniridia
ClinVar
NCBI chr 2:230,900,907...231,132,207
Ensembl chr 2:230,901,126...231,132,039
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Dcdc5
doublecortin domain containing 5
ISO
ClinVar Annotator: match by term: Aniridia
ClinVar
NCBI chr 3:97,207,500...97,435,067
Ensembl chr 3:97,256,881...97,433,651
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Dnajc24
DnaJ heat shock protein family (Hsp40) member C24
ISO
ClinVar Annotator: match by term: Aniridia
ClinVar
NCBI chr 3:96,025,388...96,065,765
Ensembl chr 3:96,025,396...96,065,711
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Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: Aniridia CTD Direct Evidence: marker/mechanism
ClinVar CTD
NCBI chr 3:95,733,810...95,954,987
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Fam241a
family with sequence similarity 241 member A
ISO
ClinVar Annotator: match by term: Aniridia
ClinVar
NCBI chr 2:232,214,331...232,245,319
Ensembl chr 2:232,214,331...232,245,319
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Foxc1
forkhead box C1
ISO
ClinVar Annotator: match by term: Aniridia
ClinVar
NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
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Glis3
GLIS family zinc finger 3
ISO
ClinVar Annotator: match by term: Aniridia
ClinVar
PMID:26893459
NCBI chr 1:246,380,816...246,564,385
Ensembl chr 1:246,380,889...246,785,360
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Gmds
GDP-mannose 4, 6-dehydratase
ISO
ClinVar Annotator: match by term: Aniridia
ClinVar
NCBI chr17:33,408,722...33,938,086
Ensembl chr17:33,408,722...33,938,085
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Immp1l
inner mitochondrial membrane peptidase subunit 1
ISO
ClinVar Annotator: match by term: Aniridia
ClinVar
NCBI chr 3:95,955,126...96,024,316
Ensembl chr 3:95,959,703...96,024,836
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Kif21a
kinesin family member 21A
ISO
ClinVar Annotator: match by term: Aniridia
ClinVar
PMID:26893459
NCBI chr 7:132,069,962...132,200,947
Ensembl chr 7:132,071,116...132,143,470
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Larp7
La ribonucleoprotein 7, transcriptional regulator
ISO
ClinVar Annotator: match by term: Aniridia
ClinVar
NCBI chr 2:231,866,888...231,882,002
Ensembl chr 2:231,867,135...231,881,939
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Neurog2
neurogenin 2
ISO
ClinVar Annotator: match by term: Aniridia
ClinVar
NCBI chr 2:231,962,517...231,963,441
Ensembl chr 2:231,962,517...231,963,308
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Pax6
paired box 6
susceptibility
ISO
DNA:mutations:exon, intron:multiple (human) CTD Direct Evidence: marker/mechanism 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 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 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
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Sox2
SRY-box transcription factor 2
ISO
ClinVar Annotator: match by term: Congenital aniridia
ClinVar
NCBI chr 2:121,165,137...121,167,545
Ensembl chr 2:121,165,137...121,167,545
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Tifa
TRAF-interacting protein with forkhead-associated domain
ISO
ClinVar Annotator: match by term: Aniridia
ClinVar
NCBI chr 2:232,104,394...232,137,425
Ensembl chr 2:232,104,809...232,137,422
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Trim44
tripartite motif-containing 44
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:91,968,781...92,242,138
Ensembl chr 3:92,183,556...92,242,318
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Wt1
WT1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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Zgrf1
zinc finger, GRF-type containing 1
ISO
ClinVar Annotator: match by term: Aniridia
ClinVar
NCBI chr 2:231,881,893...231,944,760
Ensembl chr 2:231,884,337...231,940,877
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Dcdc5
doublecortin domain containing 5
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 3:97,207,500...97,435,067
Ensembl chr 3:97,256,881...97,433,651
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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 3:96,025,388...96,065,765
Ensembl chr 3:96,025,396...96,065,711
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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 3:95,733,810...95,954,987
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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 chr 3:95,955,126...96,024,316
Ensembl chr 3:95,959,703...96,024,836
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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:9482572 PMID:9651515 PMID:9727514 PMID:9792406 PMID:9931324 PMID:10234503 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:26535646 PMID:26661695 PMID:26694549 PMID:26849621 PMID:27081502 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 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
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Rcn1
reticulocalbin 1
ISO
ClinVar Annotator: match by term: Aniridia 1
ClinVar
PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532
NCBI chr 3:95,404,863...95,419,110
Ensembl chr 3:95,406,284...95,418,679
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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 chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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Elp4
elongator acetyltransferase complex subunit 4
ISO
OMIM
NCBI chr 3:95,733,810...95,954,987
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Trim44
tripartite motif-containing 44
ISO
ClinVar Annotator: match by term: ANIRIDIA 3
ClinVar OMIM
PMID:26394807
NCBI chr 3:91,968,781...92,242,138
Ensembl chr 3:92,183,556...92,242,318
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Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: 11p deletion syndrome
ClinVar
NCBI chr 3:95,733,810...95,954,987
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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 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
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Itpr1
inositol 1,4,5-trisphosphate receptor, type 1
ISO
ClinVar Annotator: match by term: Gillespie syndrome
ClinVar OMIM
PMID:7952360 PMID:10664581 PMID:17558851 PMID:24091540 PMID:25741868 PMID:25794864 PMID:27062503 PMID:27108797 PMID:27108798 PMID:27862915 PMID:28659154 PMID:28826917 PMID:29169895 PMID:29925855 PMID:32499604
NCBI chr 4:140,247,297...140,580,749
Ensembl chr 4:140,247,313...140,580,748
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Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
ClinVar
NCBI chr 3:95,733,810...95,954,987
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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 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by OMIM:194072 CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:15118671
RGD:1331525
NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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