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GENE - TERM ANNOTATION REPORT
RGD ID:
13907463
Species:
Sus scrofa
RGD Object:
Gene
Symbol:
PAX6
Name:
paired box 6
Acc ID:
DOID:0070532
Term:
aniridia 1
Definition:
An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common. (DO)
Definition Source(s):
https://eyewiki.org/Aniridia
"DO" "DO",
https://pubmed.ncbi.nlm.nih.gov/12721955/
"DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object Symbol
Qualifier
Evidence
With
Reference
Source
Notes
Original Reference(s)
PAX6
ISO
PAX6 (Homo sapiens)
7240710
OMIM
PAX6
ISO
PAX6 (Homo sapiens)
8554872
ClinVar
ClinVar Annotator: match by term: Aniridia 1 | ClinVar Annotator: match by term: Cataracts, congenital, with late-onset corneal dystrophy
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:1251879
PMID:12552561
PMID:12634864
PMID:12721955
PMID:12731001
PMID:12782766
PMID:12868034
PMID:1302030
PMID:1345175
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:1684738
PMID:17148041
PMID:17406642
PMID:17417613
PMID:17568989
PMID:17576681
PMID:17595013
PMID:17630404
PMID:17893655
PMID:18241071
PMID:18332330
PMID:18483559
PMID:18776953
PMID:19218613
PMID:1954207
PMID:19862335
PMID:19876904
PMID:19898691
PMID:20054790
PMID:20577777
PMID:2080308
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: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: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: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
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