FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1488697306> ?p ?o ?g. }

• W1488697306 abstract "Crigler-Najjar syndrome (CNS) type I and type II are usually inherited as autosomal recessive conditions that result from mutations in the UGT1A1 gene. The main objective of the present review is to summarize results of all available evidence on the accuracy of SNP-based pathogenicity detection tools compared to published clinical result for the prediction of in nsSNPs that leads to disease using prediction performance method. A comprehensive search was performed to find all mutations related to CNS. Database searches included dbSNP, SNPdbe, HGMD, Swissvar, ensemble, and OMIM. All the mutation related to CNS was extracted. The pathogenicity prediction was done using SNP-based pathogenicity detection tools include SIFT, PHD-SNP, PolyPhen2, fathmm, Provean, and Mutpred. Overall, 59 different SNPs related to missense mutations in the UGT1A1 gene, were reviewed. Comparing the diagnostic OR, PolyPhen2 and Mutpred have the highest detection 4.983 (95% CI: 1.24 - 20.02) in both, following by SIFT (diagnostic OR: 3.25, 95% CI: 1.07 - 9.83). The highest MCC of SNP-based pathogenicity detection tools, was belong to SIFT (34.19%) followed by Provean, PolyPhen2, and Mutpred (29.99%, 29.89%, and 29.89%, respectively). Hence the highest SNP-based pathogenicity detection tools ACC, was fit to SIFT (62.71%) followed by PolyPhen2, and Mutpred (61.02%, in both). Our results suggest that some of the well-established SNP-based pathogenicity detection tools can appropriately reflect the role of a disease-associated SNP in both local and global structures." @default.
• W1488697306 created "2016-06-24" @default.
• W1488697306 creator A5007897879 @default.
• W1488697306 creator A5028254372 @default.
• W1488697306 creator A5063896371 @default.
• W1488697306 creator A5083165540 @default.
• W1488697306 date "2013-01-01" @default.
• W1488697306 modified "2023-09-29" @default.
• W1488697306 title "Meta-analysis diagnostic accuracy of SNP-based pathogenicity detection tools: a case of UTG1A1 gene mutations." @default.
• W1488697306 cites W2063274819 @default.
• W1488697306 cites W2073557384 @default.
• W1488697306 cites W2074961888 @default.
• W1488697306 cites W2086969630 @default.
• W1488697306 cites W2089335658 @default.
• W1488697306 cites W2092926517 @default.
• W1488697306 cites W2093137985 @default.
• W1488697306 cites W2093528182 @default.
• W1488697306 cites W2099564671 @default.
• W1488697306 cites W2114029728 @default.
• W1488697306 cites W2122732537 @default.
• W1488697306 cites W2127981150 @default.
• W1488697306 cites W2131234009 @default.
• W1488697306 cites W2132606212 @default.
• W1488697306 cites W2136493673 @default.
• W1488697306 cites W2144420447 @default.
• W1488697306 cites W2148853951 @default.
• W1488697306 cites W2169160087 @default.
• W1488697306 cites W2169243280 @default.
• W1488697306 cites W2204485842 @default.
• W1488697306 cites W3353568 @default.
• W1488697306 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3709112" @default.
• W1488697306 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23875061" @default.
• W1488697306 hasPublicationYear "2013" @default.
• W1488697306 type Work @default.
• W1488697306 sameAs 1488697306 @default.
• W1488697306 citedByCount "6" @default.
• W1488697306 countsByYear W14886973062014 @default.
• W1488697306 countsByYear W14886973062015 @default.
• W1488697306 countsByYear W14886973062019 @default.
• W1488697306 countsByYear W14886973062022 @default.
• W1488697306 countsByYear W14886973062023 @default.
• W1488697306 crossrefType "journal-article" @default.
• W1488697306 hasAuthorship W1488697306A5007897879 @default.
• W1488697306 hasAuthorship W1488697306A5028254372 @default.
• W1488697306 hasAuthorship W1488697306A5063896371 @default.
• W1488697306 hasAuthorship W1488697306A5083165540 @default.
• W1488697306 hasConcept C104317684 @default.
• W1488697306 hasConcept C135763542 @default.
• W1488697306 hasConcept C139275648 @default.
• W1488697306 hasConcept C153209595 @default.
• W1488697306 hasConcept C154945302 @default.
• W1488697306 hasConcept C35794970 @default.
• W1488697306 hasConcept C41008148 @default.
• W1488697306 hasConcept C501734568 @default.
• W1488697306 hasConcept C52622490 @default.
• W1488697306 hasConcept C54355233 @default.
• W1488697306 hasConcept C60644358 @default.
• W1488697306 hasConcept C61265191 @default.
• W1488697306 hasConcept C64502627 @default.
• W1488697306 hasConcept C70721500 @default.
• W1488697306 hasConcept C75563809 @default.
• W1488697306 hasConcept C86803240 @default.
• W1488697306 hasConcept C89423630 @default.
• W1488697306 hasConceptScore W1488697306C104317684 @default.
• W1488697306 hasConceptScore W1488697306C135763542 @default.
• W1488697306 hasConceptScore W1488697306C139275648 @default.
• W1488697306 hasConceptScore W1488697306C153209595 @default.
• W1488697306 hasConceptScore W1488697306C154945302 @default.
• W1488697306 hasConceptScore W1488697306C35794970 @default.
• W1488697306 hasConceptScore W1488697306C41008148 @default.
• W1488697306 hasConceptScore W1488697306C501734568 @default.
• W1488697306 hasConceptScore W1488697306C52622490 @default.
• W1488697306 hasConceptScore W1488697306C54355233 @default.
• W1488697306 hasConceptScore W1488697306C60644358 @default.
• W1488697306 hasConceptScore W1488697306C61265191 @default.
• W1488697306 hasConceptScore W1488697306C64502627 @default.
• W1488697306 hasConceptScore W1488697306C70721500 @default.
• W1488697306 hasConceptScore W1488697306C75563809 @default.
• W1488697306 hasConceptScore W1488697306C86803240 @default.
• W1488697306 hasConceptScore W1488697306C89423630 @default.
• W1488697306 hasLocation W14886973061 @default.
• W1488697306 hasOpenAccess W1488697306 @default.
• W1488697306 hasPrimaryLocation W14886973061 @default.
• W1488697306 hasRelatedWork W1504730632 @default.
• W1488697306 hasRelatedWork W1543117447 @default.
• W1488697306 hasRelatedWork W2038187430 @default.
• W1488697306 hasRelatedWork W2059145105 @default.
• W1488697306 hasRelatedWork W2063714349 @default.
• W1488697306 hasRelatedWork W2151735140 @default.
• W1488697306 hasRelatedWork W2166958946 @default.
• W1488697306 hasRelatedWork W2181217663 @default.
• W1488697306 hasRelatedWork W2184994888 @default.
• W1488697306 hasRelatedWork W2197257753 @default.
• W1488697306 hasRelatedWork W2257609546 @default.
• W1488697306 hasRelatedWork W2589729229 @default.
• W1488697306 hasRelatedWork W2742200403 @default.
• W1488697306 hasRelatedWork W2766406790 @default.
• W1488697306 hasRelatedWork W2938684833 @default.
• W1488697306 hasRelatedWork W2958049408 @default.
• W1488697306 hasRelatedWork W3111516114 @default.

• next