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: Congenital aniridia
ClinVar
NCBI chr 2:218,801,425...218,924,013
Ensembl chr 2:216,128,825...216,247,157
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Ank2
ankyrin 2
ISO
ClinVar Annotator: match by term: Congenital aniridia
ClinVar
NCBI chr 2:218,052,555...218,628,414
Ensembl chr 2:215,379,680...215,862,923
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Ap1ar
adaptor-related protein complex 1 associated regulatory protein
ISO
ClinVar Annotator: match by term: Congenital aniridia
ClinVar
NCBI chr 2:218,951,104...218,983,495
Ensembl chr 2:216,276,631...216,309,013
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Arsj
arylsulfatase family, member J
ISO
ClinVar Annotator: match by term: Congenital aniridia
ClinVar
NCBI chr 2:217,449,147...217,529,142
Ensembl chr 2:214,774,654...214,854,612
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Camk2d
calcium/calmodulin-dependent protein kinase II delta
ISO
ClinVar Annotator: match by term: Congenital aniridia
ClinVar
NCBI chr 2:217,698,324...217,961,898
Ensembl chr 2:215,024,004...215,286,178
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Dcdc1-ps1
doublecortin domain containing 1, pseudogene 1
ISO
ClinVar Annotator: match by term: Congenital aniridia
ClinVar
NCBI chr 3:112,940,793...113,351,417
Ensembl chr 3:92,718,047...92,896,542
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Dnajc24
DnaJ heat shock protein family (Hsp40) member C24
ISO
ClinVar Annotator: match by term: Congenital aniridia
ClinVar
NCBI chr 3:92,450,631...92,486,004
Ensembl chr 3:92,450,639...92,485,901
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Elp4
elongator acetyltransferase complex subunit 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital aniridia
CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:112,617,020...112,839,963
Ensembl chr 3:92,162,280...92,385,243
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Fam241a
family with sequence similarity 241 member A
ISO
ClinVar Annotator: match by term: Congenital aniridia
ClinVar
NCBI chr 2:219,019,025...219,049,648
Ensembl chr 2:216,343,822...216,375,242
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Foxc1
forkhead box C1
ISO
ClinVar Annotator: match by term: Congenital aniridia
ClinVar
NCBI chr17:32,840,119...32,844,100
Ensembl chr17:32,633,142...32,634,803
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Glis3
GLIS family zinc finger 3
ISO
ClinVar Annotator: match by term: Congenital aniridia
ClinVar
PMID:25741868 PMID:26893459
NCBI chr 1:235,389,567...235,809,416
Ensembl chr 1:225,976,326...226,395,899
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Gmds
GDP-mannose 4, 6-dehydratase
ISO
ClinVar Annotator: match by term: Congenital aniridia
ClinVar
NCBI chr17:32,304,029...32,830,708
Ensembl chr17:32,095,386...32,621,961
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Immp1l
inner mitochondrial membrane peptidase subunit 1
ISO
ClinVar Annotator: match by term: Congenital aniridia
ClinVar
NCBI chr 3:112,840,015...112,904,297
Ensembl chr 3:92,385,379...92,452,313
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Kif21a
kinesin family member 21A
ISO
ClinVar Annotator: match by term: Congenital aniridia
ClinVar
PMID:26893459
NCBI chr 7:122,062,523...122,179,051
Ensembl chr 7:122,062,537...122,178,999
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Larp7
La ribonucleoprotein 7, transcriptional regulator
ISO
ClinVar Annotator: match by term: Congenital aniridia
ClinVar
NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865
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Neurog2
neurogenin 2
ISO
ClinVar Annotator: match by term: Congenital aniridia
ClinVar
NCBI chr 2:216,092,709...216,095,276
Ensembl chr 2:216,093,363...216,094,154
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Pax6
paired box 6
susceptibility
ISO ISS
DNA:mutations:exon, intron:multiple (human) OMIM:106210 ClinVar Annotator: match by term: Aniridia, atypical | ClinVar Annotator: match by term: Congenital aniridia CTD Direct Evidence: marker/mechanism 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)
MouseDO ClinVar CTD RGD
PMID:9931324 PMID:14744876 PMID:17417613 PMID:18322702 PMID:18776953 PMID:25741868 PMID:27013732 PMID:28492532 PMID:30221735 PMID:9138149 PMID:23734086 PMID:20664694 PMID:22171157 PMID:22815628 PMID:19862335 PMID:16303964 PMID:16080917 PMID:22393272 PMID:22550392 PMID:25366758 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 3:112,590,034...112,611,771
Ensembl chr 3:92,135,637...92,157,014
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Sox2
SRY-box transcription factor 2
ISO
ClinVar Annotator: match by term: Congenital aniridia
ClinVar
PMID:25741868
NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:117,536,929...117,539,338
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Tifa
TRAF-interacting protein with forkhead-associated domain
ISO
ClinVar Annotator: match by term: Congenital aniridia
ClinVar
NCBI chr 2:218,927,724...218,942,111
Ensembl chr 2:216,234,774...216,267,841
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Trim44
tripartite motif-containing 44
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:109,048,643...109,183,821
Ensembl chr 3:88,592,719...88,729,188
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Wt1
WT1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643
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Zgrf1
zinc finger, GRF-type containing 1
ISO
ClinVar Annotator: match by term: Congenital aniridia
ClinVar
NCBI chr 2:216,012,911...216,075,608
Ensembl chr 2:216,013,005...216,074,750
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Dcdc1-ps1
doublecortin domain containing 1, pseudogene 1
ISO
ClinVar Annotator: match by term: Aniridia 1
ClinVar
PMID:10737978 PMID:11284764 PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28231309 PMID:28492532 More...
NCBI chr 3:112,940,793...113,351,417
Ensembl chr 3:92,718,047...92,896,542
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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:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28231309 PMID:28492532 More...
NCBI chr 3:92,450,631...92,486,004
Ensembl chr 3:92,450,639...92,485,901
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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 PMID:11431688 PMID:12552561 PMID:12731001 PMID:15150775 PMID:16098226 PMID:17630404 PMID:18483559 PMID:19218613 PMID:22361317 PMID:24138039 PMID:24290376 PMID:25741868 PMID:26661695 PMID:27124303 PMID:27381094 PMID:27431685 PMID:28231309 PMID:28321846 PMID:28492532 PMID:29618921 PMID:30291432 More...
NCBI chr 3:112,617,020...112,839,963
Ensembl chr 3:92,162,280...92,385,243
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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:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28231309 PMID:28492532 More...
NCBI chr 3:112,840,015...112,904,297
Ensembl chr 3:92,385,379...92,452,313
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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:1345175 PMID:1684738 PMID:1954207 PMID:2080308 PMID:6988567 PMID:7550230 PMID:7666404 PMID:7951315 PMID:8111279 PMID:8111379 PMID:8364574 PMID:8640214 PMID:8689689 PMID:9138149 PMID:9279758 PMID:9281415 PMID:9452088 PMID:9482572 PMID:9536098 PMID:9727514 PMID:9792406 PMID:9931324 PMID:10234503 PMID:10477494 PMID:10694925 PMID:10737978 PMID:10887930 PMID:11284764 PMID:11309364 PMID:11431688 PMID:11479730 PMID:11553050 PMID:11826019 PMID:12015275 PMID:12388550 PMID:12552561 PMID:12634864 PMID:12721955 PMID:12731001 PMID:12782766 PMID:12868034 PMID:14561779 PMID:14744876 PMID:15020706 PMID:15086958 PMID:15150775 PMID:15579687 PMID:15846561 PMID:15889018 PMID:16098226 PMID:16199547 PMID:16493447 PMID:16617299 PMID:16712695 PMID:16785853 PMID:16803629 PMID:17148041 PMID:17406642 PMID:17417613 PMID:17568989 PMID:17576681 PMID:17595013 PMID:17630404 PMID:17893655 PMID:18241071 PMID:18332330 PMID:18414213 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:22393275 PMID:22509105 PMID:22692063 PMID:22893676 PMID:23404109 PMID:23517654 PMID:23734086 PMID:23761016 PMID:23942204 PMID:24138039 PMID:24266705 PMID:24281366 PMID:24390526 PMID:24623969 PMID:24737507 PMID:25678763 PMID:25741868 PMID:26467025 PMID:26535646 PMID:26604670 PMID:26661695 PMID:26694549 PMID:26849621 PMID:27013732 PMID:27081502 PMID:27081561 PMID:27124303 PMID:27307692 PMID:27381094 PMID:27431685 PMID:27455012 PMID:27463523 PMID:27878435 PMID:28018434 PMID:28231309 PMID:28321846 PMID:28488383 PMID:28492532 PMID:28559085 PMID:29145603 PMID:29217025 PMID:29618921 PMID:29780932 PMID:29901133 PMID:29914532 PMID:30167917 PMID:30291432 PMID:30315214 PMID:30986449 PMID:31161946 PMID:31700164 PMID:32080308 PMID:32214788 PMID:32360764 PMID:32467297 PMID:32857266 PMID:32860008 PMID:32883240 PMID:33169869 PMID:34101622 PMID:34174135 PMID:34415986 PMID:34942114 PMID:35052368 PMID:37191119 PMID:38459225 More...
NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:92,135,637...92,157,014
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Rcn1
reticulocalbin 1
ISO
ClinVar Annotator: match by term: Aniridia 1
ClinVar
PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 More...
NCBI chr 3:112,295,838...112,310,082
Ensembl chr 3:91,841,052...91,855,295
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Aniridia 1
ClinVar
PMID:1327525 PMID:1338906 PMID:1655284 PMID:7795587 PMID:8810912 PMID:8975729 PMID:9090524 PMID:9475094 PMID:9529364 PMID:9607189 PMID:9745866 PMID:11182928 PMID:11278460 PMID:11322369 PMID:15150775 PMID:15509792 PMID:16932893 PMID:17630404 PMID:17853480 PMID:18203154 PMID:18644976 PMID:20106868 PMID:21125408 PMID:21499692 PMID:21508141 PMID:22099579 PMID:22172722 PMID:23349334 PMID:23515051 PMID:23715653 PMID:24138039 PMID:25145932 PMID:25349199 PMID:25383892 PMID:25720465 PMID:25741868 PMID:25818337 PMID:26090994 PMID:26248470 PMID:26467025 PMID:26661695 PMID:26882358 PMID:27124303 PMID:27300205 PMID:27719739 PMID:28334862 PMID:28492532 PMID:28780565 PMID:29474669 PMID:30406062 PMID:30721404 PMID:30963316 PMID:31937884 PMID:32604935 PMID:32891756 PMID:33226606 PMID:34386660 PMID:34490048 PMID:34727091 PMID:36110220 PMID:38219185 More...
NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643
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Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: Aniridia 2 | ClinVar Annotator: match by term: ELP4-related condition
OMIM ClinVar
PMID:25741868 PMID:26010655 PMID:28492532
NCBI chr 3:112,617,020...112,839,963
Ensembl chr 3:92,162,280...92,385,243
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Trim44
tripartite motif-containing 44
ISO
ClinVar Annotator: match by term: Aniridia 3
OMIM ClinVar
PMID:25741868 PMID:26394807
NCBI chr 3:109,048,643...109,183,821
Ensembl chr 3:88,592,719...88,729,188
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Itpr1
inositol 1,4,5-trisphosphate receptor, type 1
ISO
ClinVar Annotator: match by term: Aniridia-cerebellar ataxia-intellectual disability syndrome | ClinVar Annotator: match by term: Gillespie syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7952360 PMID:9536098 PMID:10664581 PMID:17558851 PMID:17576681 PMID:24091540 PMID:25741868 PMID:25794864 PMID:26467025 PMID:27062503 PMID:27108797 PMID:27108798 PMID:27391121 PMID:27572814 PMID:27862915 PMID:28492532 PMID:28620721 PMID:28659154 PMID:28826917 PMID:29169895 PMID:29482223 PMID:29925855 PMID:30564305 PMID:32499604 PMID:33948933 PMID:37164302 More...
NCBI chr 4:142,743,401...143,066,505
Ensembl chr 4:141,187,418...141,510,491
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Pax6
paired box 6
ISO
ClinVar Annotator: match by term: Gillespie syndrome
ClinVar
PMID:25741868 PMID:26899008
NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:92,135,637...92,157,014
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Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:112,617,020...112,839,963
Ensembl chr 3:92,162,280...92,385,243
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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 PMID:17417613 PMID:18483559 PMID:18776953 PMID:22692063 PMID:25741868 PMID:26604670 PMID:26661695 PMID:28321846 PMID:28492532 More...
NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:92,135,637...92,157,014
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Wt1
WT1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism 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 ClinVar
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:8621495 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:9745866 PMID:9817285 PMID:10094551 PMID:10505699 PMID:10561752 PMID:10670748 PMID:10762296 PMID:10792605 PMID:11007843 PMID:11182928 PMID:12050205 PMID:12640141 PMID:12970737 PMID:15150775 PMID:15483024 PMID:15509792 PMID:16439601 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:19048299 PMID:19484379 PMID:20442690 PMID:21499692 PMID:21508141 PMID:22099579 PMID:22703879 PMID:22815844 PMID:22908070 PMID:23295293 PMID:23302619 PMID:23349334 PMID:23497137 PMID:23515051 PMID:23715653 PMID:24033266 PMID:24161391 PMID:24728327 PMID:24856380 PMID:25349199 PMID:25451826 PMID:25501161 PMID:25623218 PMID:25741868 PMID:25813279 PMID:25818337 PMID:26069768 PMID:26248470 PMID:26467025 PMID:27719739 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28811308 PMID:29474669 PMID:29668062 PMID:29869118 PMID:30406062 PMID:30655312 PMID:30963316 PMID:31970404 PMID:32352694 PMID:32581362 PMID:32604935 PMID:32891756 PMID:33742552 PMID:34386660 PMID:34490048 PMID:34622098 PMID:35211794 PMID:35904974 PMID:36110220 PMID:36245711 PMID:36349777 PMID:36964972 PMID:36980135 PMID:15118671 More...
RGD:1331525
NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643
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