Advanced search
Combine gene, variant, phenotype, region and year filters
Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
Knowledge-base search
Publications
3 records shown · first 60Association of endothelial nitric oxide synthase (NOS3) gene polymorphisms with primary open-angle glaucoma in a Saudi cohort.
PMID 31914149 | PMCID PMC6948740 | DOI 10.1371/journal.pone.0227417 · PloS one · 2020 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | G894T | “Genotyping of rs2070744 (T-786C) and rs1799983 (G894T) variants of the NOS3 gene was performed using TaqMan® assay.” | 0.82 | literature_variant_regex_v2 |
| gene | NOS3 | “Association of endothelial nitric oxide synthase (NOS3) gene polymorphisms with primary open-angle glaucoma in a Saudi cohort.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Association of endothelial nitric oxide synthase (NOS3) gene polymorphisms with primary open-angle glaucoma in a Saudi cohort. AIM: To investigate the association of endothelial nitric oxide synthase (NOS3) gene polymorphisms in patients with primary open-angle glaucoma (POAG) of Saudi origin. METHODS: This case-control study included 173 patients with POAG (94 men and 79 women) and 171 controls (98 men and 73 women). CONCLUSION: Our results suggest that the polymorphism rs1799983 and the haplotypes of rs20707440 and rs1799983 in the NOS3 gene may significantly modulate the risk of POAG in Saudi's, particularly among men.” | 0.95 | saudi_context_rules_v1 |
| variant | rs2070744 | “Genotyping of rs2070744 (T-786C) and rs1799983 (G894T) variants of the NOS3 gene was performed using TaqMan® assay.” | 0.90 | hgvs_regex_v1 |
Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015.
PMID 27454254 | PMCID PMC4959372 | DOI 10.1186/s12864-016-2858-0 · BMC genomics · 2016 · 46 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | G894T | “Al-Qahtani P79 Prognostic significance of CD44 expression profile in colorectal carcinoma Maryam Al-Zahrani, Sahira Lary, Sahar Hakamy, Ashraf Dallol, Mahmoud Al-Ahwal, Jaudah Al-Maghrabi, Emmanuel Dermitzakis, Adel Abuzenadah, Abdelbaset Buhmeida, Mohammed Al-Qahtani P80 Association of the endothelial nitric oxide synthase (eNOS) gene G894T polymorphism with hypertension risk and complications Abeer A Al-refai, Mona Saleh, Rehab I Yassien, Mahmmoud Kamel, Rabab M Habeb P81 SNPs array to screen genetic variation among diabetic patients Najlaa Filimban, Ashraf Dallol, Nadia Ghannam, Mohammed Al-Qahtani, Adel Mohammed Abuzenadah P82 Detection and genotyping of Helicobacter pylori among gastric cancer patients from Saudi Arabian population Fehmida Bibi, Sana Akhtar, Esam I.” | 0.82 | literature_variant_regex_v2 |
| gene | KIF2A | “Shay O2 The microtubule destabilizer KIF2A regulates the postnatal establishment of neuronal circuits in addition to prenatal cell survival, cell migration, and axon elongation, and its loss leading to malformation of cortical development and severe epilepsy Noriko Homma, Ruyun Zhou, Muhammad Imran Naseer, Adeel G.” | 0.98 | hgnc_dict_v1 |
| gene | RPL27A | “Saini, Awatif Jamal, Jaudah Al-Maghrabi, Adel Abuzenadah, Adeel Chaudhary, Mohammed Al Qahtani, Ghazi Damanhouri O5 RPL27A is a target of miR-595 and deficiency contributes to ribosomal dysgenesis Heba Alkhatabi O6 Next generation DNA sequencing panels for haemostatic and platelet disorders and for Fanconi anaemia in routine diagnostic service Anne Goodeve, Laura Crookes, Nikolas Niksic, Nicholas Beauchamp O7 Targeted sequencing panels and their utilization in personalized medicine Adel M.” | 0.98 | hgnc_dict_v1 |
| gene | CD200R1 | “Shehab P29 Altered expression of CD200R1 on dendritic cells of patients with inflammatory bowel diseases: in silico investigations and clinical evaluations Mohammed F.” | 0.98 | hgnc_dict_v1 |
Association of the endothelial nitric oxide synthase gene G894T polymorphism with the risk of diabetic nephropathy in Qassim region, Saudi Arabia-A pilot study.
PMID 25606424 | PMCID PMC4287856 | DOI 10.1016/j.mgene.2014.04.009 · Meta gene · 2014 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | G894T | “Association of the endothelial nitric oxide synthase gene G894T polymorphism with the risk of diabetic nephropathy in Qassim region, Saudi Arabia-A pilot study.” | 0.82 | literature_variant_regex_v2 |
| phenotype | diabetes mellitus | “BACKGROUND: Diabetic nephropathy (DN) is a chronic microangiopathic complication of type 2 diabetes mellitus (DM).Vascular endothelial dysfunction resulting from impaired nitric oxide synthase (NOS) activity in the vascular endothelial cells has been suggested as playing an important role in the pathogenesis of diabetic nephropathy (DN).” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia, Qassim | “Association of the endothelial nitric oxide synthase gene G894T polymorphism with the risk of diabetic nephropathy in Qassim region, Saudi Arabia-A pilot study. Our objective was to evaluate the association of G894T polymorphism of eNOS gene with the risk of DN among type 2 diabetic Saudi patients. CONCLUSION: E-NOS gene SNP is not considered as genetic risk factor for DN among type 2 diabetic Saudi patients.” | 0.95 | saudi_context_rules_v1 |