Type	Entity	Source evidence	Confidence	Extractor
gene	MTHFR	“BACKGROUND: Studies have linked the methylenetetrahydrofolate reductase (MTHFR) c.665C > T (rs1801133) with hyperhomocysteinemia.”	0.98	hgnc_dict_v1
phenotype	epilepsy	“The association of this variant with seizures was moderate (OR: 1.51, 95 % CI: 1.13-2.02, p = 0.009).”	0.93	phenotype_alias_lexicon_v2
phenotype	intellectual disability	“MTHFR rs1801133 variant demonstrated ≥4.49-fold increased risk for respiratory distress, recurrent pregnancy loss (RPL), ischemic stroke, autism, global developmental delay, dysplasia, myoclonic jerks, intellectual disability, aggressive behavior, motor delay, Alzheimer's, cerebellar atrophy, failure to thrive, cerebral atrophy, increased tendon reflexes, and spasticity (p < 0.0001).”	0.98	phenotype_alias_lexicon_v2
phenotype	developmental delay	“MTHFR rs1801133 variant demonstrated ≥4.49-fold increased risk for respiratory distress, recurrent pregnancy loss (RPL), ischemic stroke, autism, global developmental delay, dysplasia, myoclonic jerks, intellectual disability, aggressive behavior, motor delay, Alzheimer's, cerebellar atrophy, failure to thrive, cerebral atrophy, increased tendon reflexes, and spasticity (p < 0.0001).”	0.98	phenotype_alias_lexicon_v2

PMID 40667778 | PMCID PMC12269706 | DOI 10.1080/20565623.2025.2528490 · Future science OA · 2025 · 5 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	MTHFR	“In populations across Saudi Arabia, Jordan, Egypt, Tunisia, and Iraq, genetic testing for variants in genes like MTHFR, MDR1, ABCB1, miR-146a, GABARG2, IL-1β, EPHX1, and CYP3A422 can predict drug resistance, and response, improve drug dosing, and minimize ADRs.”	0.98	hgnc_dict_v1
phenotype	epilepsy	“Epilepsy, a prevalent neurological disorder, is characterized by recurring seizures due to atypical neural activity, impacting millions globally.”	0.98	phenotype_alias_lexicon_v2
gene	ABCB1	“In populations across Saudi Arabia, Jordan, Egypt, Tunisia, and Iraq, genetic testing for variants in genes like MTHFR, MDR1, ABCB1, miR-146a, GABARG2, IL-1β, EPHX1, and CYP3A422 can predict drug resistance, and response, improve drug dosing, and minimize ADRs.”	0.98	hgnc_dict_v1
gene	EPHX1	“In populations across Saudi Arabia, Jordan, Egypt, Tunisia, and Iraq, genetic testing for variants in genes like MTHFR, MDR1, ABCB1, miR-146a, GABARG2, IL-1β, EPHX1, and CYP3A422 can predict drug resistance, and response, improve drug dosing, and minimize ADRs.”	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
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
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

PMID 31354331 | PMCID PMC6572658 | DOI 10.2147/PGPM.S211490 · Pharmacogenomics and personalized medicine · 2019 · 7 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	MTHFR	“Effects of MTHFR and ABCC2 gene polymorphisms on antiepileptic drug responsiveness in Jordanian epileptic patients.”	0.98	hgnc_dict_v1
phenotype	epilepsy	“BACKGROUND: Epilepsy is one of the most common neurological diseases with unclear etiology where its genetic background and treatment regime still need further exploration.”	0.98	phenotype_alias_lexicon_v2
gene	ABCC2	“Effects of MTHFR and ABCC2 gene polymorphisms on antiepileptic drug responsiveness in Jordanian epileptic patients.”	0.98	hgnc_dict_v1
variant	rs1801133	“Custom platform array was used to genotype the genetic polymorphisms within MTHFR (rs1801133) and ABCC2 (rs717620, rs3740066, rs2273697) genes.”	0.90	hgvs_regex_v1

PMID 26142939 | PMCID PMC6152547 | DOI 10.5144/0256-4947.2015.51 · Annals of Saudi medicine · 2015 · 3 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	MTHFR	“Impact of MTHFR (C677T) gene polymorphism on antiepileptic drug monotherapy in North Indian epileptic population.”	0.98	hgnc_dict_v1
phenotype	epilepsy	“CONCLUSION: The result confirmed that hyperhomocysteinemia is common in adults receiving AED treatment for epilepsy with toxicity and non-toxicity groups.”	0.98	phenotype_alias_lexicon_v2
variant	C677T	“Impact of MTHFR (C677T) gene polymorphism on antiepileptic drug monotherapy in North Indian epileptic population.”	0.82	literature_variant_regex_v2