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GENE - TERM ANNOTATION REPORT

RGD ID: 2460
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cyp1b1
Name: cytochrome P450, family 1, subfamily b, polypeptide 1
Acc ID: DOID:0080610
Term: anterior segment dysgenesis 5
Definition: An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. (DO)
Definition Source(s): PMID:27839872 "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 SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Cyp1b1 ISOCYP1B1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5PMID:10655546 PMID:11403040 PMID:11527932 PMID:11558822 PMID:11774072 PMID:11854439 PMID:11980847 PMID:12036985 PMID:12525557 PMID:14507861 PMID:15037581 PMID:15342693 PMID:16688110 PMID:16735991 PMID:16735994 PMID:16862072 PMID:17363580 PMID:17563717 PMID:17591938 PMID:17718864 PMID:18470941 PMID:18622259 PMID:18852424 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19536304 PMID:19643970 PMID:19744731 PMID:19793111 PMID:20151268 PMID:20198978 PMID:20664688 PMID:21081970 PMID:21168818 PMID:21572728 PMID:21815720 PMID:21850185 PMID:21854771 PMID:22004014 PMID:22128238 PMID:23028769 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24227805 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25527694 PMID:25580891 PMID:25646030 PMID:25741868 PMID:25950505 PMID:25978063 PMID:26550445 PMID:26997785 PMID:27060699 PMID:27243976 PMID:27270415 PMID:27272408 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27777502 PMID:27820421 PMID:28384041 PMID:28448622 PMID:28492532 PMID:28620713 PMID:29142762 PMID:29556725 PMID:30108387 PMID:30484747 PMID:30520782 PMID:30653986 PMID:30788381 PMID:32476818 PMID:32499604 PMID:32510024 PMID:32832252 PMID:32883240 PMID:34956319 PMID:36239105 PMID:38219857 PMID:9097971 PMID:9497261
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