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GENE - TERM ANNOTATION REPORT

RGD ID: 1311866
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cyp2r1
Name: cytochrome P450, family 2, subfamily r, polypeptide 1
Acc ID: DOID:0080887
Term: vitamin D-dependent rickets type 1B
Definition: A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/26365513/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/ "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)
Cyp2r1 ISOCYP2R1 (Homo sapiens)7240710OMIM  
Cyp2r1 ISOCYP2R1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Cyp2r1 ISOCYP2R1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1B | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1BPMID:10969262 PMID:15128933 PMID:16549493 PMID:22855339 PMID:24033266 PMID:25741868 PMID:25741916 PMID:25942481 PMID:27716192 PMID:28492532 PMID:28548312 PMID:32115644 PMID:33715104 PMID:8201479
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