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4 records shown · first 60

PMID 37895268 | PMCID PMC10606407 | DOI 10.3390/genes14101919 · Genes · 2023 · 31 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
variant	rs1801133	“RESULTS: No association was identified between the targeted single-nucleotide polymorphism rs1801133 in MTHFR and TEEs in SCD (p = 0.79).”	0.90	hgvs_regex_v1
gene	MTHFR	“A number of candidate polymorphisms in certain genes (e.g., FVL, PRT, and MTHFR) were previously reported as risk factors for TEEs in different clinical conditions.”	0.98	hgnc_dict_v1
gene	OR51B5	“Seven of the identified variants are located in olfactory receptor family 51 genes (OR51B5, OR51V1, OR51A1P, and OR51E2), and five variants were related to family 52 genes (OR52A5, OR52K1, OR52K2, and OR52T1P).”	0.98	hgnc_dict_v1
gene	OR51V1	“Seven of the identified variants are located in olfactory receptor family 51 genes (OR51B5, OR51V1, OR51A1P, and OR51E2), and five variants were related to family 52 genes (OR52A5, OR52K1, OR52K2, and OR52T1P).”	0.98	hgnc_dict_v1

PMID 36363550 | PMCID PMC9698893 | DOI 10.3390/medicina58111593 · Medicina (Kaunas, Lithuania) · 2022 · 4 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
variant	rs1801133	“We evaluated the association between the clinical features and the methyl tetrahydrofolate (MTHFR) rs1801133 polymorphism and ASMs response among pediatric patients with epilepsy.”	0.90	hgvs_regex_v1
gene	MTHFR	“Association of Polymorphism of the Methyl Tetrahydrofolate Reductase (MTHFR) Gene with Anti-Seizure Medication Response in Pediatric Patients in Jeddah, Saudi Arabia.”	0.98	hgnc_dict_v1
phenotype	epilepsy	“Although over 20 anti-seizure medications (ASMs) are commercially available, nearly one-third of patients develop drug-resistant epilepsy.”	0.98	phenotype_alias_lexicon_v2
population	Saudi Arabia, Jeddah	“Association of Polymorphism of the Methyl Tetrahydrofolate Reductase (MTHFR) Gene with Anti-Seizure Medication Response in Pediatric Patients in Jeddah, Saudi Arabia. Materials and Methods This was a multicenter, retrospective, case-control study of 101 children with epilepsy and 59 healthy children in Jeddah. Conclusion This is the first pharmacogenetic study of MTHFR in patients with epilepsy in Saudi Arabia that found no significant association between the MTHFR SNP rs1801133 and gene susceptibility and drug responsiveness.”	0.95	saudi_context_rules_v1

PMID 31920317 | PMCID PMC6938732 | DOI 10.2147/NDT.S230348 · Neuropsychiatric disease and treatment · 2019 · 7 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
variant	rs1801133	“Genomic DNA from buccal cells was analyzed for 112 cases and 104 healthy controls using TaqMan genotyping assays of 677C>T rs1801133 and 1298A>C rs1801131 SNPs in the MTHFR gene.”	0.90	hgvs_regex_v1
gene	MTHFR	“Here we explored associations between SNPs in the methylenetetrahydrofolate reductase (MTHFR) gene or combined genotypes and the risk of ASD in a Saudi community.”	0.98	hgnc_dict_v1
phenotype	autism spectrum disorder	“Methylenetetrahydrofolate Reductase Gene Variants Confer Potential Vulnerability to Autism Spectrum Disorder in a Saudi Community.”	0.98	phenotype_alias_lexicon_v2
population	Saudi Arabia	“Methylenetetrahydrofolate Reductase Gene Variants Confer Potential Vulnerability to Autism Spectrum Disorder in a Saudi Community. Here we explored associations between SNPs in the methylenetetrahydrofolate reductase (MTHFR) gene or combined genotypes and the risk of ASD in a Saudi community. Genomic DNA from buccal cells was analyzed for 112 cases and 104 healthy controls using TaqMan genotyping assays of 677C>T rs1801133 and 1298A>C rs1801131 SNPs in the MTHFR gene. Our study could create reference data for future genetic association studies in the Saudi population and for use by government and health experts to develop regional health management programs.”	0.95	saudi_context_rules_v1

PMID 28348449 | PMCID PMC5350417 | DOI 10.1155/2017/1474560 · Disease markers · 2017 · 10 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
variant	rs1801133	“Genomic DNA was taken from buccal cells of 52 patients with UBC and 104 controls for genotyping of GSTT1, GSTM1, rs4646903, rs1048943, TP53 rs1042522, rs1801133, and rs1801394 using PCR and TaqMan® assays.”	0.90	hgvs_regex_v1
gene	UBC	“We evaluated the associations between seven single nucleotide polymorphisms and susceptibility to urothelial bladder carcinoma (UBC) in a Saudi population.”	0.98	hgnc_dict_v1
gene	GSTT1	“Genomic DNA was taken from buccal cells of 52 patients with UBC and 104 controls for genotyping of GSTT1, GSTM1, rs4646903, rs1048943, TP53 rs1042522, rs1801133, and rs1801394 using PCR and TaqMan® assays.”	0.98	hgnc_dict_v1
gene	GSTM1	“Genomic DNA was taken from buccal cells of 52 patients with UBC and 104 controls for genotyping of GSTT1, GSTM1, rs4646903, rs1048943, TP53 rs1042522, rs1801133, and rs1801394 using PCR and TaqMan® assays.”	0.98	hgnc_dict_v1