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GENE - TERM ANNOTATION REPORT

RGD ID: 619561
Species: Homo sapiens
RGD Object: Gene
Symbol: VDR
Name: vitamin D receptor
Acc ID: HP:0012056
Term: Cutaneous melanoma
Definition: The presence of a melanoma of the skin.
Definition Source(s): https://orcid.org/0000-0002-0736-9199
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)
VDRdisease_progressionIAGP 8158068RGDDNA:SNPs:exons: (rs731236, rs2228570) 
VDRno_associationIAGP 8158071RGDDNA:SNPs: :multiple 
VDRno_associationIAGP 8158075RGDDNA:SNPs: :multiple 
VDRsusceptibilityIAGP 8157629RGDDNA:missense mutation, silent mutation: :p, M1T, p.I352 (c.1056T>C) (rs2228570, rs731236) 
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