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Publications

4 records shown · first 60
TypeEntitySource evidenceConfidenceExtractor
variantrs4073“The polymorphisms in TNFα -308 G>A (rs1800629), IL-8 -251T>A (rs4073), CXCR2 +785 C>T (rs2230054) genes were detected by ARMS -PCR assay whereas for IL-10 (-1082 G>A), rs1800896 G>A allele-specific PCR assay was used and their association with COVID-19 susceptibility and mortality was estimated by multivariate analysis.”0.90hgvs_regex_v1
geneCXCR2“The polymorphisms in TNFα -308 G>A (rs1800629), IL-8 -251T>A (rs4073), CXCR2 +785 C>T (rs2230054) genes were detected by ARMS -PCR assay whereas for IL-10 (-1082 G>A), rs1800896 G>A allele-specific PCR assay was used and their association with COVID-19 susceptibility and mortality was estimated by multivariate analysis.”0.98hgnc_dict_v1
phenotypeCOVID-19“Molecular Determination of Tumor Necrosis Factor-alpha, Interleukin-8, Interleukin-10, and C-X-C Chemokine Receptor-2 Genetic Variations and their Association with Disease Susceptibility and Mortality in COVID-19 Patients.”0.98phenotype_alias_lexicon_v2
variantrs1800629“The polymorphisms in TNFα -308 G>A (rs1800629), IL-8 -251T>A (rs4073), CXCR2 +785 C>T (rs2230054) genes were detected by ARMS -PCR assay whereas for IL-10 (-1082 G>A), rs1800896 G>A allele-specific PCR assay was used and their association with COVID-19 susceptibility and mortality was estimated by multivariate analysis.”0.90hgvs_regex_v1
TypeEntitySource evidenceConfidenceExtractor
variantrs4073“This study has investigated the consequences of promoter SNPs in apoptosis genes Bax-248G>A (rs4645878)/Bcl-2-938C>A (rs2279115) and pro-inflammatory cytokines TNF-α rs1800629 G>A/IL-8 rs4073 T>A on the risk and susceptibility towards hematological cancers.”0.90hgvs_regex_v1
geneBCL2“The regulation of apoptosis (the programmed cell death) is dependent on the crucial involvement of BCL2 and BAX.”0.98hgnc_dict_v1
phenotypeleukemia“The Bax-248G>A and Bcl-2-938 C>A polymorphic variations in the promoter sequences of the Bax and Bcl-2 gene have been recently associated with low Bax expression, progression to advanced stages, treatment resistance, and shortened overall survival rate in some hematological malignancies, including chronic myeloid leukemia (CML) and other myeloproliferative neoplasms.”0.98phenotype_alias_lexicon_v2
variantrs4645878“This study has investigated the consequences of promoter SNPs in apoptosis genes Bax-248G>A (rs4645878)/Bcl-2-938C>A (rs2279115) and pro-inflammatory cytokines TNF-α rs1800629 G>A/IL-8 rs4073 T>A on the risk and susceptibility towards hematological cancers.”0.90hgvs_regex_v1

Analysis of MTNR1A Genetic Polymorphisms and Their Association with the Reproductive Performance Parameters in Two Mediterranean Sheep Breeds.

PMID 36766337 | PMCID PMC9913639 | DOI 10.3390/ani13030448 · Animals : an open access journal from MDPI · 2023 · 5 validated mentions
TypeEntitySource evidenceConfidenceExtractor
variantrs40738822721“The SNPs rs430181568 and rs40738822721 (SNP18 and SNP20 in our study, respectively) were totally linked in this study and can be considered a single marker.”0.90hgvs_regex_v1
geneMTNR1A“Analysis of MTNR1A Genetic Polymorphisms and Their Association with the Reproductive Performance Parameters in Two Mediterranean Sheep Breeds.”0.98hgnc_dict_v1
geneDTL“DTL was associated with SNP18 and SNP20 in (B) ewes (p < 0.05); however, no significant difference was detected between the three genotypes (G/G, G/A, and A/A) at these two SNPs.”0.98hgnc_dict_v1
variantrs602330706“The SNP rs602330706 in exon II is a novel SNP detected for the first time only in the (B) breed.”0.90hgvs_regex_v1

A preliminary study of cytokine gene polymorphism effects on Saudi patients with colorectal cancer.

PMID 33294886 | PMCID PMC7841582 | DOI 10.15537/smj.2020.12.25543 · Saudi medical journal · 2020 · 8 validated mentions
TypeEntitySource evidenceConfidenceExtractor
variantrs4073“OBJECTIVE: To determine the possible associations of polymorphisms in interleukin (IL)-8 (rs4073 T/A), IL-10 (rs1800896 A/G), IL-22 (rs1179251 C/G and rs2227485 C/T), IL-27 (rs17855750 T/G), and transforming growth factor beta 1 (TGFß1) (rs1800469 C/T) with colorectal cancer (CRC) susceptibility in Saudi patients.”0.90hgvs_regex_v1
phenotypecolorectal cancer“A preliminary study of cytokine gene polymorphism effects on Saudi patients with colorectal cancer.”0.98phenotype_alias_lexicon_v2
populationSaudi Arabia, Riyadh“A preliminary study of cytokine gene polymorphism effects on Saudi patients with colorectal cancer. OBJECTIVE: To determine the possible associations of polymorphisms in interleukin (IL)-8 (rs4073 T/A), IL-10 (rs1800896 A/G), IL-22 (rs1179251 C/G and rs2227485 C/T), IL-27 (rs17855750 T/G), and transforming growth factor beta 1 (TGFß1) (rs1800469 C/T) with colorectal cancer (CRC) susceptibility in Saudi patients. METHODS: The case-control study was carried out between July 2019 and January 2020 in King Khaled University Hospital, Riyadh, Saudi Arabia. A total of 70 patients with CRC and 70 healthy controls were included in the study.”0.95saudi_context_rules_v1
variantrs1800896“OBJECTIVE: To determine the possible associations of polymorphisms in interleukin (IL)-8 (rs4073 T/A), IL-10 (rs1800896 A/G), IL-22 (rs1179251 C/G and rs2227485 C/T), IL-27 (rs17855750 T/G), and transforming growth factor beta 1 (TGFß1) (rs1800469 C/T) with colorectal cancer (CRC) susceptibility in Saudi patients.”0.90hgvs_regex_v1