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8 records shown · first 60Associations of MALAT1 rs619586/rs3200401 and ANRIL rs10965215/rs10738605 polymorphisms with type 2 diabetes and diabetic nephropathy risk in an Egyptian population.
PMID 42428670 | PMCID PMC13346653 | DOI 10.3389/fendo.2026.1802490 · Frontiers in endocrinology · 2026 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs3200401 | “Associations of MALAT1 rs619586/rs3200401 and ANRIL rs10965215/rs10738605 polymorphisms with type 2 diabetes and diabetic nephropathy risk in an Egyptian population.” | 0.90 | hgvs_regex_v1 |
| gene | MALAT1 | “Associations of MALAT1 rs619586/rs3200401 and ANRIL rs10965215/rs10738605 polymorphisms with type 2 diabetes and diabetic nephropathy risk in an Egyptian population.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Associations of MALAT1 rs619586/rs3200401 and ANRIL rs10965215/rs10738605 polymorphisms with type 2 diabetes and diabetic nephropathy risk in an Egyptian population.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | rs619586 | “Associations of MALAT1 rs619586/rs3200401 and ANRIL rs10965215/rs10738605 polymorphisms with type 2 diabetes and diabetic nephropathy risk in an Egyptian population.” | 0.90 | hgvs_regex_v1 |
Genetic modifiers of response to thalidomide in transfusion-dependent beta-thalassemia patients: a whole-exome sequence analysis.
PMID 41081085 | PMCID PMC12513377 | DOI 10.7717/peerj.20038 · PeerJ · 2025 · 14 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs3207618 | “The commonest polymorphisms in the non-responder group were found in the PM20D1 gene (rs7518979), LGR6 (rs75658797), MYH15 (rs4299484), and RESF1 (rs3207618), each of which was found in 66.6% cases.” | 0.90 | hgvs_regex_v1 |
| gene | CHI3L1 | “The three most common polymorphisms in the excellent responder group were found in the exon region of CHI3L1 (rs880633), NPNT (rs35132891), and ZNF 208 (rs10425763), which were found in 92%, 85%, and 71% cases, respectively.” | 0.98 | hgnc_dict_v1 |
| gene | NPNT | “The three most common polymorphisms in the excellent responder group were found in the exon region of CHI3L1 (rs880633), NPNT (rs35132891), and ZNF 208 (rs10425763), which were found in 92%, 85%, and 71% cases, respectively.” | 0.98 | hgnc_dict_v1 |
| gene | PM20D1 | “The commonest polymorphisms in the non-responder group were found in the PM20D1 gene (rs7518979), LGR6 (rs75658797), MYH15 (rs4299484), and RESF1 (rs3207618), each of which was found in 66.6% cases.” | 0.98 | hgnc_dict_v1 |
Angio-Long Noncoding RNA MALAT1 (rs3200401) and MIAT (rs1061540) Gene Variants in Ovarian Cancer.
PMID 38390896 | PMCID PMC10885055 | DOI 10.3390/epigenomes8010005 · Epigenomes · 2024 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs3200401 | “Angio-Long Noncoding RNA MALAT1 (rs3200401) and MIAT (rs1061540) Gene Variants in Ovarian Cancer.” | 0.90 | hgvs_regex_v1 |
| gene | MALAT1 | “Angio-Long Noncoding RNA MALAT1 (rs3200401) and MIAT (rs1061540) Gene Variants in Ovarian Cancer.” | 0.98 | hgnc_dict_v1 |
| gene | MIAT | “Angio-Long Noncoding RNA MALAT1 (rs3200401) and MIAT (rs1061540) Gene Variants in Ovarian Cancer.” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “Angio-Long Noncoding RNA MALAT1 (rs3200401) and MIAT (rs1061540) Gene Variants in Ovarian Cancer.” | 0.98 | phenotype_alias_lexicon_v2 |
Association of Angio-LncRNAs MIAT rs1061540/MALAT1 rs3200401 Molecular Variants with Gensini Score in Coronary Artery Disease Patients Undergoing Angiography.
PMID 35053285 | PMCID PMC8773982 | DOI 10.3390/biom12010137 · Biomolecules · 2022 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs3200401 | “Association of Angio-LncRNAs MIAT rs1061540/MALAT1 rs3200401 Molecular Variants with Gensini Score in Coronary Artery Disease Patients Undergoing Angiography.” | 0.90 | hgvs_regex_v1 |
| gene | MIAT | “Association of Angio-LncRNAs MIAT rs1061540/MALAT1 rs3200401 Molecular Variants with Gensini Score in Coronary Artery Disease Patients Undergoing Angiography.” | 0.98 | hgnc_dict_v1 |
| gene | MALAT1 | “Association of Angio-LncRNAs MIAT rs1061540/MALAT1 rs3200401 Molecular Variants with Gensini Score in Coronary Artery Disease Patients Undergoing Angiography.” | 0.98 | hgnc_dict_v1 |
| gene | SENCR | “We aimed for the first time to investigate the potential association of five angiogenesis-related lncRNAs (PUNISHER, SENCR, MIAT, MALAT1, and GATA6-AS) variants with CAD susceptibility and/or severity.” | 0.98 | hgnc_dict_v1 |
Genotype Triad for HOTAIR rs10783618, LINC-ROR rs1942347, and MALAT1 rs3200401 as Molecular Markers in Systemic Lupus Erythematous.
PMID 35626352 | PMCID PMC9139987 | DOI 10.3390/diagnostics12051197 · Diagnostics (Basel, Switzerland) · 2022 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs3200401 | “Genotype Triad for HOTAIR rs10783618, LINC-ROR rs1942347, and MALAT1 rs3200401 as Molecular Markers in Systemic Lupus Erythematous.” | 0.90 | hgvs_regex_v1 |
| gene | HOTAIR | “Genotype Triad for HOTAIR rs10783618, LINC-ROR rs1942347, and MALAT1 rs3200401 as Molecular Markers in Systemic Lupus Erythematous.” | 0.98 | hgnc_dict_v1 |
| gene | LINC-ROR | “Genotype Triad for HOTAIR rs10783618, LINC-ROR rs1942347, and MALAT1 rs3200401 as Molecular Markers in Systemic Lupus Erythematous.” | 0.98 | hgnc_dict_v1 |
| gene | MALAT1 | “Genotype Triad for HOTAIR rs10783618, LINC-ROR rs1942347, and MALAT1 rs3200401 as Molecular Markers in Systemic Lupus Erythematous.” | 0.98 | hgnc_dict_v1 |
Coronary Artery Disease: Association Study of 5 Loci with Angiographic Indices of Disease Severity.
PMID 34336004 | PMCID PMC8292076 | DOI 10.1155/2021/5522539 · Disease markers · 2021 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs320 | “Genotyping of five SNPs (namely, rs2230806 (1051G > A) in ABCA1 on chromosome 9, rs2075291 (553G > T) in ApoA5 on chromosome 11, rs320 in LPL on chromosome 8 intron (T → G at position 481), rs10757278 (c.22114477A > G), and rs2383206 (c.22115026 A > G) on chromosome 9p21 locus) was performed by allele-specific PCR.” | 0.90 | hgvs_regex_v1 |
| gene | ABCA1 | “Genotyping of five SNPs (namely, rs2230806 (1051G > A) in ABCA1 on chromosome 9, rs2075291 (553G > T) in ApoA5 on chromosome 11, rs320 in LPL on chromosome 8 intron (T → G at position 481), rs10757278 (c.22114477A > G), and rs2383206 (c.22115026 A > G) on chromosome 9p21 locus) was performed by allele-specific PCR.” | 0.98 | hgnc_dict_v1 |
| gene | LPL | “Genotyping of five SNPs (namely, rs2230806 (1051G > A) in ABCA1 on chromosome 9, rs2075291 (553G > T) in ApoA5 on chromosome 11, rs320 in LPL on chromosome 8 intron (T → G at position 481), rs10757278 (c.22114477A > G), and rs2383206 (c.22115026 A > G) on chromosome 9p21 locus) was performed by allele-specific PCR.” | 0.98 | hgnc_dict_v1 |
| phenotype | coronary artery disease | “Coronary Artery Disease: Association Study of 5 Loci with Angiographic Indices of Disease Severity.” | 0.98 | phenotype_alias_lexicon_v2 |
Association between HindIII (rs320) variant in the lipoprotein lipase gene and the presence of coronary artery disease and stroke among the Saudi population.
PMID 32714026 | PMCID PMC7376116 | DOI 10.1016/j.sjbs.2020.06.029 · Saudi journal of biological sciences · 2020 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs320 | “Association between HindIII (rs320) variant in the lipoprotein lipase gene and the presence of coronary artery disease and stroke among the Saudi population.” | 0.90 | hgvs_regex_v1 |
| phenotype | coronary artery disease | “Association between HindIII (rs320) variant in the lipoprotein lipase gene and the presence of coronary artery disease and stroke among the Saudi population.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | stroke | “Association between HindIII (rs320) variant in the lipoprotein lipase gene and the presence of coronary artery disease and stroke among the Saudi population.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Association between HindIII (rs320) variant in the lipoprotein lipase gene and the presence of coronary artery disease and stroke among the Saudi population. In this case-control study, we have recruited 315 CAD cases and 205 age-matched controls.” | 0.95 | saudi_context_rules_v1 |
Impact of Lipoprotein Lipase Gene Polymorphism, S447X, on Postprandial Triacylglycerol and Glucose Response to Sequential Meal Ingestion.
PMID 26999119 | PMCID PMC4813252 | DOI 10.3390/ijms17030397 · International journal of molecular sciences · 2016 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs320 | “Given that postprandial assessment of lipoprotein metabolism may provide a more physiological perspective of disturbances in lipoprotein homeostasis compared to assessment in the fasting state, we have investigated the influence of two commonly studied LPL polymorphisms (rs320, HindIII; rs328, S447X) on postprandial lipaemia, in 261 participants using a standard sequential meal challenge.” | 0.90 | hgvs_regex_v1 |
| variant | rs328 | “Given that postprandial assessment of lipoprotein metabolism may provide a more physiological perspective of disturbances in lipoprotein homeostasis compared to assessment in the fasting state, we have investigated the influence of two commonly studied LPL polymorphisms (rs320, HindIII; rs328, S447X) on postprandial lipaemia, in 261 participants using a standard sequential meal challenge.” | 0.90 | hgvs_regex_v1 |
| variant | S447X | “Impact of Lipoprotein Lipase Gene Polymorphism, S447X, on Postprandial Triacylglycerol and Glucose Response to Sequential Meal Ingestion.” | 0.82 | literature_variant_regex_v2 |