Polymerase Proofreading-Related Adenomatous Polyposis (PPAP)

Polymerase Proofreading-Related Adenomatous Polyposis(来自ICD-11)
别称:
Ppap
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References Literature
Polymerase Proofreading-Related Adenomatous Polyposis, also known as ppap, is related to colorectal adenoma and pancreatitis, hereditary. An important gene associated with Polymerase Proofreading-Related Adenomatous Polyposis is POLE (DNA Polymerase Epsilon, Catalytic Subunit), and among its related pathways/superpathways are Assembly of the pre-replicative complex and Transcription-Coupled Nucleotide Excision Repair (TC-NER). The drugs Oxycodone and Methadone have been mentioned in the context of this disorder. Affiliated tissues include colon and breast, and related phenotypes are endometrial carcinoma and colorectal polyposis
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MALACARDS
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Unknown
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2
17
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