Curated genomic evidence
Saudi and Gulf genetics, made searchable.
Explore peer-reviewed literature through normalized genes, variants, phenotypes, populations, and the exact evidence supporting each extraction.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
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45,767Articles
6,533Gene records
7,005Variant records
69,633Validated mentions
Latest literature
60 records shown · first 60STK11 and DNA Repair Gene Mutations Define Hereditary Subset of Middle Eastern Papillary Thyroid Cancer.
PMID 41898519 | PMCID PMC13026885 | DOI 10.3390/ijms27062656 · International journal of molecular sciences · 2026 · 16 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | STK11 | “STK11 and DNA Repair Gene Mutations Define Hereditary Subset of Middle Eastern Papillary Thyroid Cancer.” | 0.98 | hgnc_dict_v1 |
| gene | TP53 | “Eleven patients (4.5%) harbored germline PVs/LPVs in cancer susceptibility genes including STK11, TP53, BRCA1, BRCA2, FANCA, SLX4, RAD50, MSH6, POLD1 and NF1.” | 0.98 | hgnc_dict_v1 |
| gene | BRCA1 | “Eleven patients (4.5%) harbored germline PVs/LPVs in cancer susceptibility genes including STK11, TP53, BRCA1, BRCA2, FANCA, SLX4, RAD50, MSH6, POLD1 and NF1.” | 0.98 | hgnc_dict_v1 |
| gene | BRCA2 | “Eleven patients (4.5%) harbored germline PVs/LPVs in cancer susceptibility genes including STK11, TP53, BRCA1, BRCA2, FANCA, SLX4, RAD50, MSH6, POLD1 and NF1.” | 0.98 | hgnc_dict_v1 |
A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population.
PMID 41929524 | PMCID PMC13042357 | DOI 10.1155/humu/2418005 · Human mutation · 2026 · 16 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HBB | “RESULTS: The β-globin (HBB) gene showed the greatest mutational diversity, with over 60 β-thalassemia variants identified.” | 0.98 | hgnc_dict_v1 |
| gene | HBA1 | “The α-globin genes (HBA1, HBA2, and the unique HBA12) were frequently involved in α-thalassemia, with the -α3.7 deletion predominating.” | 0.98 | hgnc_dict_v1 |
| gene | HBA2 | “The α-globin genes (HBA1, HBA2, and the unique HBA12) were frequently involved in α-thalassemia, with the -α3.7 deletion predominating.” | 0.98 | hgnc_dict_v1 |
| gene | BCL11A | “In sickle cell disease, the HbS mutation (c.20A>T) is the most common, primarily linked to the Arab-Indian haplotype, whereas polymorphisms in BCL11A, HBS1L-MYB, and ANTXR1 influenced fetal hemoglobin levels.” | 0.98 | hgnc_dict_v1 |
Identification of novel genomic variants in diabetic nephropathy patients using whole-exome sequencing: a pilot investigation.
PMID 41970998 | PMCID PMC13062162 | DOI 10.3389/fendo.2026.1798640 · Frontiers in endocrinology · 2026 · 15 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | THADA | “RESULTS: The genes THADA, NOTCH4, and TNXB met the genome-wide threshold and showed minimal T2D association.” | 0.98 | hgnc_dict_v1 |
| gene | NOTCH4 | “RESULTS: The genes THADA, NOTCH4, and TNXB met the genome-wide threshold and showed minimal T2D association.” | 0.98 | hgnc_dict_v1 |
| gene | TNXB | “RESULTS: The genes THADA, NOTCH4, and TNXB met the genome-wide threshold and showed minimal T2D association.” | 0.98 | hgnc_dict_v1 |
| gene | SP2 | “The DN-specific genes including SP2, CDH3, and ARFGEF2 met the suggestive DN threshold, however falling below the T2D significance.” | 0.98 | hgnc_dict_v1 |
Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.
PMID 41865132 | PMCID PMC13168499 | DOI 10.1038/s41598-026-44288-9 · Scientific reports · 2026 · 14 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | AR | “Genetic studies of ASD have identified de novo copy number variants (CNVs) and point mutations that contribute significantly to the genetic architecture, but the majority of these studies were conducted in populations unsuited for detecting autosomal recessive (AR) inheritance.” | 0.98 | hgnc_dict_v1 |
| gene | DAGLA | “We found an enrichment of homozygous variants, both in 16 genes previously reported for AR ASD and/or intellectual disability (ID) and 32 previously unreported AR candidate genes (including DAGLA, ENPP6, FAXDC2, ILDR2, KSR2, PKD1L1, SCN10A, SHH, and SLC36A1).” | 0.98 | hgnc_dict_v1 |
| gene | ENPP6 | “We found an enrichment of homozygous variants, both in 16 genes previously reported for AR ASD and/or intellectual disability (ID) and 32 previously unreported AR candidate genes (including DAGLA, ENPP6, FAXDC2, ILDR2, KSR2, PKD1L1, SCN10A, SHH, and SLC36A1).” | 0.98 | hgnc_dict_v1 |
| gene | FAXDC2 | “We found an enrichment of homozygous variants, both in 16 genes previously reported for AR ASD and/or intellectual disability (ID) and 32 previously unreported AR candidate genes (including DAGLA, ENPP6, FAXDC2, ILDR2, KSR2, PKD1L1, SCN10A, SHH, and SLC36A1).” | 0.98 | hgnc_dict_v1 |
Genetic Risk Factors and Clinical Implications of Glaucoma in the Saudi Population: A Review.
PMID 42074148 | PMCID PMC13116526 | DOI 10.3390/ijms27083506 · International journal of molecular sciences · 2026 · 12 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP1B1 | “First, CYP1B1 functions as the dominant causal gene across both primary congenital glaucoma (PCG) and juvenile-onset open-angle glaucoma (JOAG), accounting for 76-86% of cases, with two founder alleles, p.G61E (penetrance 87.7%) and p.R469W (penetrance 93%), driving severe, early-onset phenotypes.” | 0.98 | hgnc_dict_v1 |
| gene | MYOC | “Critically, MYOC and LTBP2, the primary JOAG genes in other populations, carry no pathogenic variants in Saudi cohorts, rendering standard multi-ethnic gene panels inadequate for this population.” | 0.98 | hgnc_dict_v1 |
| gene | LTBP2 | “Critically, MYOC and LTBP2, the primary JOAG genes in other populations, carry no pathogenic variants in Saudi cohorts, rendering standard multi-ethnic gene panels inadequate for this population.” | 0.98 | hgnc_dict_v1 |
| gene | APOE | “Second, adult-onset glaucoma follows a distinct polygenic architecture where APOE ε2 confers a near five-fold risk for primary angle-closure glaucoma (OR = 4.82), an effect absent or inconsistent in global datasets, and NOS3 variants associate with primary open-angle glaucoma specifically in men, a sex-stratified signal unreported outside Saudi cohorts.” | 0.98 | hgnc_dict_v1 |
Familial glucocorticoid deficiency due to a novel TXNRD2 variant: expanding the spectrum of a rare genetic cause.
PMID 42290847 | PMCID PMC13253293 | DOI 10.3389/fendo.2026.1834727 · Frontiers in endocrinology · 2026 · 11 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TXNRD2 | “Familial glucocorticoid deficiency due to a novel TXNRD2 variant: expanding the spectrum of a rare genetic cause.” | 0.98 | hgnc_dict_v1 |
| gene | MC2R | “No pathogenic, likely pathogenic, or VUS was found in other genes involved in FGD, including MC2R, MRAP, STAR, CYP11A1, NNT, MCM4, or SGPL1.” | 0.98 | hgnc_dict_v1 |
| gene | MRAP | “No pathogenic, likely pathogenic, or VUS was found in other genes involved in FGD, including MC2R, MRAP, STAR, CYP11A1, NNT, MCM4, or SGPL1.” | 0.98 | hgnc_dict_v1 |
| gene | CYP11A1 | “No pathogenic, likely pathogenic, or VUS was found in other genes involved in FGD, including MC2R, MRAP, STAR, CYP11A1, NNT, MCM4, or SGPL1.” | 0.98 | hgnc_dict_v1 |
Genetic variants of CYP2C19 and CYP2C18 and their clinical implications in the Saudi population.
PMID 41908226 | PMCID PMC13018941 | DOI 10.1016/j.jtumed.2026.03.003 · Journal of Taibah University Medical Sciences · 2026 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP2C19 | “Genetic variants of CYP2C19 and CYP2C18 and their clinical implications in the Saudi population.” | 0.98 | hgnc_dict_v1 |
| gene | CYP2C18 | “Genetic variants of CYP2C19 and CYP2C18 and their clinical implications in the Saudi population.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Genetic variants of CYP2C19 and CYP2C18 and their clinical implications in the Saudi population. BACKGROUND: At least 500 genetic polymorphisms associated with the CYP2C19 and CYP2C18 enzymes have been identified, yet few polymorphisms have been measured in the Saudi population. Blood samples from 374 Saudi adults were genotyped. Tens of previously unmeasured CYP2C19 and CYP2C18 variants were identified in the Saudi population.” | 0.95 | saudi_context_rules_v1 |
| variant | rs4244285 | “We excluded the rs4244285 variant since our main objective was to determine the frequency of numerous unmeasured or poorly documented CYP2C19 and CYP2C18 genetic variants in KSA.” | 0.90 | hgvs_regex_v1 |
Rare coding variation and stroke heterogeneity in Saudi Arabia: an exome‑wide association study across severity, etiology, vascular territory, and early‑onset disease.
PMID 42087103 | PMCID PMC13289392 | DOI 10.1186/s12883-026-04935-0 · BMC neurology · 2026 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HSP90AB1 | “RESULTS: Gene-level associations at a suggestive threshold (p < 0.005) identified several candidates including HSP90AB1, PRR23A, and LRRC42 (severity and age-at-onset); POGZ and SMIM34 (age-at-onset); and COL9A3, DCP1B, and ADGRV1 (imaging and etiology subtypes).” | 0.98 | hgnc_dict_v1 |
| gene | PRR23A | “RESULTS: Gene-level associations at a suggestive threshold (p < 0.005) identified several candidates including HSP90AB1, PRR23A, and LRRC42 (severity and age-at-onset); POGZ and SMIM34 (age-at-onset); and COL9A3, DCP1B, and ADGRV1 (imaging and etiology subtypes).” | 0.98 | hgnc_dict_v1 |
| gene | LRRC42 | “RESULTS: Gene-level associations at a suggestive threshold (p < 0.005) identified several candidates including HSP90AB1, PRR23A, and LRRC42 (severity and age-at-onset); POGZ and SMIM34 (age-at-onset); and COL9A3, DCP1B, and ADGRV1 (imaging and etiology subtypes).” | 0.98 | hgnc_dict_v1 |
| gene | POGZ | “RESULTS: Gene-level associations at a suggestive threshold (p < 0.005) identified several candidates including HSP90AB1, PRR23A, and LRRC42 (severity and age-at-onset); POGZ and SMIM34 (age-at-onset); and COL9A3, DCP1B, and ADGRV1 (imaging and etiology subtypes).” | 0.98 | hgnc_dict_v1 |
Exome-Wide Association Analysis Identifies Rare Germline Susceptibility Variants in Early-Onset Breast Cancer Among Saudi Women.
PMID 41751868 | PMCID PMC12940663 | DOI 10.3390/ijms27041732 · International journal of molecular sciences · 2026 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “While BRCA1/2 explain part of the hereditary risk, the contribution of rare coding variants in Arab EOBC remains unclear.” | 0.98 | hgnc_dict_v1 |
| gene | TP53 | “0.14% of controls; OR = 51.3; p < 1.0 × 10-10) and RPDVs in TP53 (4.9% vs.” | 0.98 | hgnc_dict_v1 |
| gene | NOTCH4 | “Sequence Kernel Association Test (SKAT) analysis identified NOTCH4 and OR12D3 and reinforced burden-based significance in GUCY2F, FRMPD3, and SHROOM2.” | 0.98 | hgnc_dict_v1 |
| gene | OR12D3 | “Sequence Kernel Association Test (SKAT) analysis identified NOTCH4 and OR12D3 and reinforced burden-based significance in GUCY2F, FRMPD3, and SHROOM2.” | 0.98 | hgnc_dict_v1 |
Multi-Level Genomic and Computational Analyses Identify a Novel IFT122 Variant Associated With Cranioectodermal Dysplasia 1 in a Consanguineous Saudi Family.
PMID 42144731 | PMCID PMC13180794 | DOI 10.1002/mgg3.70230 · Molecular genetics & genomic medicine · 2026 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | IFT122 | “Multi-Level Genomic and Computational Analyses Identify a Novel IFT122 Variant Associated With Cranioectodermal Dysplasia 1 in a Consanguineous Saudi Family.” | 0.98 | hgnc_dict_v1 |
| gene | DVL3 | “RESULTS: Exome sequencing identified a homozygous missense variant in IFT122 gene (c.94G > A; p.Gly32Arg), associated with cranioectodermal dysplasia 1, and a heterozygous frameshift variant in DVL3 gene (c.1949_1950del; p.His650Profs*60), associated with Robinow syndrome.” | 0.98 | hgnc_dict_v1 |
| gene | TTC21B | “Protein-protein interaction and molecular docking analyses further indicated altered interactions with key IFT-A components, including TTC21B, IFT140, TULP3, and IFT43, suggesting impaired intraflagellar transport complex integrity and ciliary protein trafficking.” | 0.98 | hgnc_dict_v1 |
| gene | IFT140 | “Protein-protein interaction and molecular docking analyses further indicated altered interactions with key IFT-A components, including TTC21B, IFT140, TULP3, and IFT43, suggesting impaired intraflagellar transport complex integrity and ciliary protein trafficking.” | 0.98 | hgnc_dict_v1 |
Molecular Genetics of 1α-Hydroxylase Deficiency in the Saudi Population.
PMID 41623903 | PMCID PMC12852950 | DOI 10.1210/jendso/bvaf183 · Journal of the Endocrine Society · 2026 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP27B1 | “CONTEXT: The aim of this study was to characterize the molecular genetics of 1α-hydroxylase deficiency in the highly consanguineous population of Saudi Arabia, hypothesizing that the results will show a unique CYP27B1 genotype.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Molecular Genetics of 1α-Hydroxylase Deficiency in the Saudi Population. CONTEXT: The aim of this study was to characterize the molecular genetics of 1α-hydroxylase deficiency in the highly consanguineous population of Saudi Arabia, hypothesizing that the results will show a unique CYP27B1 genotype. RESULTS: A cohort of 45 patients from 29 unrelated families was studied. Two of the previously reported mutations were from Saudi patients and have never been reported from other populations, increasing the number of novel/previously novel mutations to 6 of 10 mutations (60%). CONCLUSION: The molecular genetics of 1α-hydroxylase deficiency in Saudi Arabia is unique with several novel mutations of different types and a possible founder mutation.” | 0.95 | saudi_context_rules_v1 |
| variant | p.Glu101Gln | “Four mutations were novel (p.(Trp257LeufsTer76), p.(Glu101Gln), p.(Gly398Ser), and p.(Arg206Cys)) while the other 6 mutations were previously described (p.(arg429Pro), p.(Phe443Profs*24), p.(Gln135Ter), p. (Gly102Glu), p.(Gln504Ter), and c.589 + 1G > A).” | 0.95 | hgvs_regex_v1 |
| variant | p.Gly398Ser | “Four mutations were novel (p.(Trp257LeufsTer76), p.(Glu101Gln), p.(Gly398Ser), and p.(Arg206Cys)) while the other 6 mutations were previously described (p.(arg429Pro), p.(Phe443Profs*24), p.(Gln135Ter), p. (Gly102Glu), p.(Gln504Ter), and c.589 + 1G > A).” | 0.95 | hgvs_regex_v1 |
Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant.
PMID 41715899 | PMCID PMC12930911 | DOI 10.12659/AJCR.951257 · The American journal of case reports · 2026 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COL2A1 | “Early-Onset Ocular Presentation in Stickler Syndrome Type 1 Due to a COL2A1 Frameshift Variant.” | 0.98 | hgnc_dict_v1 |
| gene | COL11A1 | “BACKGROUND Stickler syndrome is a genetically heterogeneous connective tissue disorder caused by mutations in collagen genes (COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2).” | 0.98 | hgnc_dict_v1 |
| gene | COL11A2 | “BACKGROUND Stickler syndrome is a genetically heterogeneous connective tissue disorder caused by mutations in collagen genes (COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2).” | 0.98 | hgnc_dict_v1 |
| gene | COL9A1 | “BACKGROUND Stickler syndrome is a genetically heterogeneous connective tissue disorder caused by mutations in collagen genes (COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2).” | 0.98 | hgnc_dict_v1 |
WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated Cardiomyopathy.
PMID 41715954 | DOI 10.1111/cge.70151 · Clinical genetics · 2026 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | WDR59 | “WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated Cardiomyopathy.” | 0.98 | hgnc_dict_v1 |
| phenotype | cardiomyopathy | “WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated Cardiomyopathy.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | developmental delay | “Affected children developed left ventricular dilation, variably accompanied by cataracts, dysmorphic facial features, and growth and developmental delay.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Saudi patients mapped to a single locus and shared therein a homozygous founder WDR59 variant: c.2887G>A (p.Gly963Arg).” | 0.95 | saudi_context_rules_v1 |
SUMO3/RUNX1/AIRE/RCAN1 and DNMT3L/DYRK1A/Let-7c-5p/VEGF axes: immune dysregulation and genetic susceptibility as pulmonary risk factors in Down syndrome.
PMID 42245386 | PMCID PMC13230349 | DOI 10.1007/s13205-026-04879-9 · 3 Biotech · 2026 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SUMO3 | “SUMO3/RUNX1/AIRE/RCAN1 and DNMT3L/DYRK1A/Let-7c-5p/VEGF axes: immune dysregulation and genetic susceptibility as pulmonary risk factors in Down syndrome.” | 0.98 | hgnc_dict_v1 |
| gene | RUNX1 | “SUMO3/RUNX1/AIRE/RCAN1 and DNMT3L/DYRK1A/Let-7c-5p/VEGF axes: immune dysregulation and genetic susceptibility as pulmonary risk factors in Down syndrome.” | 0.98 | hgnc_dict_v1 |
| gene | AIRE | “SUMO3/RUNX1/AIRE/RCAN1 and DNMT3L/DYRK1A/Let-7c-5p/VEGF axes: immune dysregulation and genetic susceptibility as pulmonary risk factors in Down syndrome.” | 0.98 | hgnc_dict_v1 |
| gene | RCAN1 | “SUMO3/RUNX1/AIRE/RCAN1 and DNMT3L/DYRK1A/Let-7c-5p/VEGF axes: immune dysregulation and genetic susceptibility as pulmonary risk factors in Down syndrome.” | 0.98 | hgnc_dict_v1 |
Genetic causes of nephrolithiasis and nephrocalcinosis in a pediatric population in Saudi Arabia.
PMID 41203986 | PMCID PMC12852217 | DOI 10.1007/s00467-025-07018-3 · Pediatric nephrology (Berlin, Germany) · 2026 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CLDN16 | “Genetic mutations related to NL/NC were identified in 35/54 patients (64.81%), most commonly in CLDN16 (28.57%), SLC2A2 (17.14%), AGXT (11.43%), and SLC12A1 (8.57%).” | 0.98 | hgnc_dict_v1 |
| gene | SLC2A2 | “Genetic mutations related to NL/NC were identified in 35/54 patients (64.81%), most commonly in CLDN16 (28.57%), SLC2A2 (17.14%), AGXT (11.43%), and SLC12A1 (8.57%).” | 0.98 | hgnc_dict_v1 |
| gene | AGXT | “Genetic mutations related to NL/NC were identified in 35/54 patients (64.81%), most commonly in CLDN16 (28.57%), SLC2A2 (17.14%), AGXT (11.43%), and SLC12A1 (8.57%).” | 0.98 | hgnc_dict_v1 |
| gene | SLC12A1 | “Genetic mutations related to NL/NC were identified in 35/54 patients (64.81%), most commonly in CLDN16 (28.57%), SLC2A2 (17.14%), AGXT (11.43%), and SLC12A1 (8.57%).” | 0.98 | hgnc_dict_v1 |
Unlocking predictive genetic factors with artificial intelligence: relationship between dental impaction and hypodontia evaluated via association-rule algorithms: a case-control study.
PMID 41489795 | PMCID PMC12770169 | DOI 10.1007/s44445-025-00109-9 · The Saudi dental journal · 2026 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MSX1 | “This case-control study utilized an association-rule mining algorithm (Apriori) implemented using Python software (version 0.22.0, 2024) to predict dental impaction based on MSX1, PAX9, and AXIN2 polymorphisms.” | 0.98 | hgnc_dict_v1 |
| gene | PAX9 | “This case-control study utilized an association-rule mining algorithm (Apriori) implemented using Python software (version 0.22.0, 2024) to predict dental impaction based on MSX1, PAX9, and AXIN2 polymorphisms.” | 0.98 | hgnc_dict_v1 |
| gene | AXIN2 | “This case-control study utilized an association-rule mining algorithm (Apriori) implemented using Python software (version 0.22.0, 2024) to predict dental impaction based on MSX1, PAX9, and AXIN2 polymorphisms.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “The study was carried out at two centers in Saudi Arabia in October 2023 and involved 106 participants (42 males, 64 females; mean ± standard deviation age = 20.56 ± 8.07 years).” | 0.95 | saudi_context_rules_v1 |
Denys-Drash Syndrome by WT1 Gene: Clinical Variability and Management Challenges in Two Saudi Infants.
PMID 42040317 | PMCID PMC13108425 | DOI 10.1155/crie/8875066 · Case reports in endocrinology · 2026 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | WT1 | “Denys-Drash Syndrome by WT1 Gene: Clinical Variability and Management Challenges in Two Saudi Infants.” | 0.98 | hgnc_dict_v1 |
| phenotype | nephrotic syndrome | “BACKGROUND: Denys-Drash syndrome (DDS) is a rare genetic disorder characterized by mutations in the Wilms tumor suppressor gene (WT1), leading to a triad of conditions including nephrotic syndrome progressing to end-stage renal disease (ESRD), Wilms tumor, and ambiguous genitalia.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | COVID-19 | “Despite surgical interventions, treatment was delayed due to COVID-19 restrictions, and the patient unfortunately passed away at 16 months during the lockdown period.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | renal failure | “BACKGROUND: Denys-Drash syndrome (DDS) is a rare genetic disorder characterized by mutations in the Wilms tumor suppressor gene (WT1), leading to a triad of conditions including nephrotic syndrome progressing to end-stage renal disease (ESRD), Wilms tumor, and ambiguous genitalia.” | 0.93 | phenotype_alias_lexicon_v2 |
Heimler Syndrome Caused by Novel PEX6 Variants: Clinical and Genetic Characterization in a Saudi Cohort.
PMID 42074478 | PMCID PMC13115680 | DOI 10.3390/genes17040360 · Genes · 2026 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PEX6 | “Heimler Syndrome Caused by Novel PEX6 Variants: Clinical and Genetic Characterization in a Saudi Cohort.” | 0.98 | hgnc_dict_v1 |
| gene | PEX1 | “It is caused by hypomorphic mutations in peroxisomal assembly genes, most commonly PEX1 and PEX6, and is characterized by sensorineural hearing loss, amelogenesis imperfecta, and retinal dystrophy.” | 0.98 | hgnc_dict_v1 |
| phenotype | hearing loss | “It is caused by hypomorphic mutations in peroxisomal assembly genes, most commonly PEX1 and PEX6, and is characterized by sensorineural hearing loss, amelogenesis imperfecta, and retinal dystrophy.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | retinal dystrophy | “It is caused by hypomorphic mutations in peroxisomal assembly genes, most commonly PEX1 and PEX6, and is characterized by sensorineural hearing loss, amelogenesis imperfecta, and retinal dystrophy.” | 0.98 | phenotype_alias_lexicon_v2 |
Rare genetic causes of primary microcephaly in two Saudi families identified via whole-exome sequencing: Genomic and phenotypic delineation of pathogenic CDK5RAP2 and CIT variants.
PMID 42079399 | PMCID PMC13133948 | DOI 10.1016/j.ymgmr.2026.101315 · Molecular genetics and metabolism reports · 2026 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CDK5RAP2 | “Rare genetic causes of primary microcephaly in two Saudi families identified via whole-exome sequencing: Genomic and phenotypic delineation of pathogenic CDK5RAP2 and CIT variants.” | 0.98 | hgnc_dict_v1 |
| gene | CIT | “Rare genetic causes of primary microcephaly in two Saudi families identified via whole-exome sequencing: Genomic and phenotypic delineation of pathogenic CDK5RAP2 and CIT variants.” | 0.98 | hgnc_dict_v1 |
| gene | TEF | “In the first family, the patient had a homozygous CDK5RAP2 variant (MCPH3) and a tracheoesophageal fistula (TEF), a novel feature in this condition.” | 0.98 | hgnc_dict_v1 |
| phenotype | hearing loss | “MCPH3 is characterized by microcephaly, neurodevelopmental delays, abnormal skin pigmentation, sensorineural hearing loss, and ophthalmological abnormalities.” | 0.98 | phenotype_alias_lexicon_v2 |
Molecular Characterization of Ovarian Endometriosis in Saudi Arabian Women: Insights into Inflammatory, Autophagic, and Epigenetic Dysregulation.
PMID 42196574 | PMCID PMC13206791 | DOI 10.3390/ijms27104598 · International journal of molecular sciences · 2026 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PTTG1 | “Gene expression profiling revealed a pro-proliferative, anti-apoptotic signature, marked by the upregulation of PTTG1 and the downregulation of TNFRSF10D, CDK4, and CDKN1A.” | 0.98 | hgnc_dict_v1 |
| gene | TNFRSF10D | “Gene expression profiling revealed a pro-proliferative, anti-apoptotic signature, marked by the upregulation of PTTG1 and the downregulation of TNFRSF10D, CDK4, and CDKN1A.” | 0.98 | hgnc_dict_v1 |
| gene | CDK4 | “Gene expression profiling revealed a pro-proliferative, anti-apoptotic signature, marked by the upregulation of PTTG1 and the downregulation of TNFRSF10D, CDK4, and CDKN1A.” | 0.98 | hgnc_dict_v1 |
| gene | CDKN1A | “Gene expression profiling revealed a pro-proliferative, anti-apoptotic signature, marked by the upregulation of PTTG1 and the downregulation of TNFRSF10D, CDK4, and CDKN1A.” | 0.98 | hgnc_dict_v1 |
Genetic survey of Ivermectin-resistance markers in head lice from Jazan, Saudi Arabia.
PMID 41592674 | DOI 10.1016/j.meegid.2026.105884 · Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases · 2026 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| population | Saudi Arabia, Jazan | “Genetic survey of Ivermectin-resistance markers in head lice from Jazan, Saudi Arabia. Whereas numerous investigations have examined pyrethroid resistance, ivermectin (IVM) resistance has not been assessed in Saudi Arabia and has been addressed in few studies worldwide. This study aimed to estimate the prevalence of GluCl mutations in the Jazan region. A251V was the most prevalent mutation in Jazan, with an allele frequency of 0.78.” | 0.95 | saudi_context_rules_v1 |
| variant | A251V | “Sanger sequencing and PCR-restriction fragment length polymorphism (PCR-RFLP) were used to genotype the A251V, S46P, H272R, N143D, and T236A mutations in 62 samples.” | 0.82 | literature_variant_regex_v2 |
| variant | S46P | “Sanger sequencing and PCR-restriction fragment length polymorphism (PCR-RFLP) were used to genotype the A251V, S46P, H272R, N143D, and T236A mutations in 62 samples.” | 0.82 | literature_variant_regex_v2 |
| variant | H272R | “Sanger sequencing and PCR-restriction fragment length polymorphism (PCR-RFLP) were used to genotype the A251V, S46P, H272R, N143D, and T236A mutations in 62 samples.” | 0.82 | literature_variant_regex_v2 |
Genetic polymorphisms of tumor necrosis factor receptor-associated factor 3 and their association with acute lymphoblastic leukemia.
PMID 41619431 | DOI 10.1016/j.cancergen.2026.01.012 · Cancer genetics · 2026 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TRAF3 | “Tumor necrosis factor receptor-associated factor 3 (TRAF3) plays an essential role in regulating immune signaling, lymphocyte homeostasis, and NF-κB pathways.” | 0.98 | hgnc_dict_v1 |
| phenotype | leukemia | “Genetic polymorphisms of tumor necrosis factor receptor-associated factor 3 and their association with acute lymphoblastic leukemia.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “PURPOSE: To investigate the association between three TRAF3 single nucleotide polymorphisms (SNPs); rs33980500, rs13210247, and rs1131877, and ALL susceptibility in Saudi patients, and to evaluate TRAF3 mRNA expression levels in ALL compared to healthy individuals. METHODS: A case-control study was conducted involving 150 newly diagnosed ALL patients and 115 age- and sex-matched healthy controls.” | 0.95 | saudi_context_rules_v1 |
| variant | rs33980500 | “PURPOSE: To investigate the association between three TRAF3 single nucleotide polymorphisms (SNPs); rs33980500, rs13210247, and rs1131877, and ALL susceptibility in Saudi patients, and to evaluate TRAF3 mRNA expression levels in ALL compared to healthy individuals.” | 0.90 | hgvs_regex_v1 |
TTC19-related mitochondrial complex III deficiency: Clinical and genetic characterization of 10 patients from 5 unrelated Arab families.
PMID 41818954 | DOI 10.1016/j.ymgme.2026.109867 · Molecular genetics and metabolism · 2026 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TTC19 | “Pathogenic variants in the Tetratricopeptide Repeat Domain 19 (TTC19) gene have been identified as a cause of mitochondrial complex III deficiency, nuclear type 2 (MIM #615157).” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “TTC19-related mitochondrial complex III deficiency: Clinical and genetic characterization of 10 patients from 5 unrelated Arab families. In a Saudi family, A novel in-frame TTC19 variant NM_017775.4:c.680_709del; p.(Glu227_Leu236del) was identified, resulting in the loss of 10 amino acids in the protein.” | 0.95 | saudi_context_rules_v1 |
| variant | c.680_709del | “In a Saudi family, A novel in-frame TTC19 variant NM_017775.4:c.680_709del; p.(Glu227_Leu236del) was identified, resulting in the loss of 10 amino acids in the protein.” | 0.95 | hgvs_regex_v1 |
| variant | c.779_780del | “The second variant, NM_017775.4:c.779_780del; p.(Tyr260*), is a frameshift deletion leading to truncation of the TTC19 protein.” | 0.95 | hgvs_regex_v1 |
The Genetic Landscape of Paediatric Cataract in Saudi Arabia: A Two-Decade Cohort with Novel Variants, Genotype-Phenotype Correlations, and Bioinformatic Analysis.
PMID 41899338 | PMCID PMC13026777 | DOI 10.3390/jcm15062420 · Journal of clinical medicine · 2026 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COL18A1 | “Two novel variants were identified in the Collagen Type XVIII Alpha 1 Chain (COL18A1) and the RAB3 GTPase-activating protein catalytic subunit 2 (RAB3GAP2) genes.” | 0.98 | hgnc_dict_v1 |
| gene | RAB3GAP2 | “Two novel variants were identified in the Collagen Type XVIII Alpha 1 Chain (COL18A1) and the RAB3 GTPase-activating protein catalytic subunit 2 (RAB3GAP2) genes.” | 0.98 | hgnc_dict_v1 |
| gene | CRYBB1 | “Considerable phenotypic variability was observed, even among patients with the same mutation, particularly those with the recurrent CRYBB1 c.171del (p.Asn58fs) mutation.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital cataract | “The Genetic Landscape of Paediatric Cataract in Saudi Arabia: A Two-Decade Cohort with Novel Variants, Genotype-Phenotype Correlations, and Bioinformatic Analysis.” | 0.93 | phenotype_alias_lexicon_v2 |
Inborn Errors of Immunity Among Pediatric Patients: A Retrospective Study from Southwestern Saudi Arabia.
PMID 41917755 | DOI 10.1080/15513815.2026.2651777 · Fetal and pediatric pathology · 2026 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | RAG1 | “Genetic profiling of 40 patients revealed a predominantly autosomal recessive inheritance pattern (81%), with common gene mutations, including RAG1/2, DCLRE1C, IL2RG, and IL7R, in SCID and NCF1 in all CGD cases.” | 0.98 | hgnc_dict_v1 |
| gene | DCLRE1C | “Genetic profiling of 40 patients revealed a predominantly autosomal recessive inheritance pattern (81%), with common gene mutations, including RAG1/2, DCLRE1C, IL2RG, and IL7R, in SCID and NCF1 in all CGD cases.” | 0.98 | hgnc_dict_v1 |
| gene | IL2RG | “Genetic profiling of 40 patients revealed a predominantly autosomal recessive inheritance pattern (81%), with common gene mutations, including RAG1/2, DCLRE1C, IL2RG, and IL7R, in SCID and NCF1 in all CGD cases.” | 0.98 | hgnc_dict_v1 |
| gene | IL7R | “Genetic profiling of 40 patients revealed a predominantly autosomal recessive inheritance pattern (81%), with common gene mutations, including RAG1/2, DCLRE1C, IL2RG, and IL7R, in SCID and NCF1 in all CGD cases.” | 0.98 | hgnc_dict_v1 |
SLC52A3-related Brown-Vialetto-Van Laere syndrome: a large cohort from the Arabian Peninsula.
PMID 42056474 | PMCID PMC13247244 | DOI 10.1038/s41431-026-02106-w · European journal of human genetics : EJHG · 2026 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SLC52A3 | “20 patients were homozygous for SLC52A3: c.634C>T (p.Arg212Cys) variant and 3 patients were homozygous for SLC52A3: c.1325_1326del.” | 0.98 | hgnc_dict_v1 |
| phenotype | hearing loss | “Facial diplegia was the commonest clinical feature (12/13), while moderate to severe hearing loss and dysarthria were seen in (10/13) patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “A total of 23 patients, 16 females and 7 males, with genetically confirmed BVVL diagnosis at two tertiary centers from the region were retrospectively reviewed.” | 0.80 | saudi_context_rules_v1 |
| variant | c.634C>T | “20 patients were homozygous for SLC52A3: c.634C>T (p.Arg212Cys) variant and 3 patients were homozygous for SLC52A3: c.1325_1326del.” | 0.95 | hgvs_regex_v1 |
Symptom and comorbidity burden in familial chylomicronemia syndrome: Impact on quality of life.
PMID 42086454 | DOI 10.1016/j.jacl.2026.03.021 · Journal of clinical lipidology · 2026 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | LPL | “BACKGROUND: Familial chylomicronemia syndrome (FCS) is a severe, life-threatening genetic disorder resulting from pathogenic variants in genes involved in lipoprotein lipase (LPL) function, including LPL, APOC2, APOA5, GPIHBP1, and LMF1.” | 0.98 | hgnc_dict_v1 |
| gene | APOC2 | “BACKGROUND: Familial chylomicronemia syndrome (FCS) is a severe, life-threatening genetic disorder resulting from pathogenic variants in genes involved in lipoprotein lipase (LPL) function, including LPL, APOC2, APOA5, GPIHBP1, and LMF1.” | 0.98 | hgnc_dict_v1 |
| gene | APOA5 | “BACKGROUND: Familial chylomicronemia syndrome (FCS) is a severe, life-threatening genetic disorder resulting from pathogenic variants in genes involved in lipoprotein lipase (LPL) function, including LPL, APOC2, APOA5, GPIHBP1, and LMF1.” | 0.98 | hgnc_dict_v1 |
| gene | GPIHBP1 | “BACKGROUND: Familial chylomicronemia syndrome (FCS) is a severe, life-threatening genetic disorder resulting from pathogenic variants in genes involved in lipoprotein lipase (LPL) function, including LPL, APOC2, APOA5, GPIHBP1, and LMF1.” | 0.98 | hgnc_dict_v1 |
Genotyping-by-sequencing -based genome-wide SNP profiling and DNA fingerprinting of Saudi Arabian faba bean germplasm.
PMID 42092771 | PMCID PMC13317276 | DOI 10.1186/s12870-026-08406-z · BMC plant biology · 2026 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PGR | “BACKGROUND: Gene banks play a vital role in conserving plant genetic resources (PGR), yet the limited genetic characterization of many collections restricts their effective utilization in breeding and crop improvement.” | 0.98 | hgnc_dict_v1 |
| gene | F3 | “Several Saudi landraces (F1, F3, F6, F7, F8, F12, F13) also displayed notable genetic variation, highlighting both redundancy and unique diversity within the collection.” | 0.98 | hgnc_dict_v1 |
| gene | F7 | “Several Saudi landraces (F1, F3, F6, F7, F8, F12, F13) also displayed notable genetic variation, highlighting both redundancy and unique diversity within the collection.” | 0.98 | hgnc_dict_v1 |
| gene | F8 | “Several Saudi landraces (F1, F3, F6, F7, F8, F12, F13) also displayed notable genetic variation, highlighting both redundancy and unique diversity within the collection.” | 0.98 | hgnc_dict_v1 |
Recurrent primary hyperparathyroidism with ipsilateral multifocal papillary thyroid carcinoma of classical, warthin-like, and follicular variants harboring distinct BRAF and NRAS mutations: a rare case report.
PMID 42106728 | PMCID PMC13326088 | DOI 10.1186/s12957-026-04409-0 · World journal of surgical oncology · 2026 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRAF | “Recurrent primary hyperparathyroidism with ipsilateral multifocal papillary thyroid carcinoma of classical, warthin-like, and follicular variants harboring distinct BRAF and NRAS mutations: a rare case report.” | 0.98 | hgnc_dict_v1 |
| gene | NRAS | “Recurrent primary hyperparathyroidism with ipsilateral multifocal papillary thyroid carcinoma of classical, warthin-like, and follicular variants harboring distinct BRAF and NRAS mutations: a rare case report.” | 0.98 | hgnc_dict_v1 |
| phenotype | thyroid cancer | “Recurrent primary hyperparathyroidism with ipsilateral multifocal papillary thyroid carcinoma of classical, warthin-like, and follicular variants harboring distinct BRAF and NRAS mutations: a rare case report.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “CASE PRESENTATION: A 48-year-old Saudi female with hypothyroidism underwent left inferior parathyroidectomy and left hemithyroidectomy for biochemically confirmed PHPT.” | 0.95 | saudi_context_rules_v1 |
Comparative molecular analysis of colorectal cancer in Saudi Arabia: distinct genetic alterations and clinical features.
PMID 42147237 | PMCID PMC13175816 | DOI 10.3389/fonc.2026.1792016 · Frontiers in oncology · 2026 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KRAS | “RESULTS: Tumors from Saudi patients have a significantly lower frequency of KRAS mutations (6.5% vs.” | 0.98 | hgnc_dict_v1 |
| gene | APC | “45.0% MDACC and 41.1% TCGA, with a p-value < 0.001), APC mutations (47.8% vs.” | 0.98 | hgnc_dict_v1 |
| gene | CTNNB1 | “77.9% MDACC and 79% TCGA, with a p-value of less than 0.001) and CTNNB1 mutations (0% vs.” | 0.98 | hgnc_dict_v1 |
| gene | TP53 | “However, TP53 mutations were more common (50.0% vs.” | 0.98 | hgnc_dict_v1 |
POLG-related disorders: Clinical and molecular Spectrum in the Saudi population.
PMID 42238689 | PMCID PMC13226778 | DOI 10.1016/j.ymgmr.2026.101322 · Molecular genetics and metabolism reports · 2026 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | POLG | “BACKGROUND: POLG-related disorders are a group of mitochondrial diseases caused by variants in the POLG gene, which is essential for mitochondrial DNA replication and repair.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “RESULTS: Most of the patients in this study presented with variable neurological symptoms before the age of 12 years (80%); commonly, these symptoms included developmental delay and encephalopathy (63%), seizures (58%), ataxia and dysphagia (42% each).” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | epilepsy | “RESULTS: Most of the patients in this study presented with variable neurological symptoms before the age of 12 years (80%); commonly, these symptoms included developmental delay and encephalopathy (63%), seizures (58%), ataxia and dysphagia (42% each).” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “POLG-related disorders: Clinical and molecular Spectrum in the Saudi population. METHODS: We conducted a retrospective study of 19 molecularly confirmed cases with POLG-related disorders from 16 unrelated families in six different referral centers.” | 0.95 | saudi_context_rules_v1 |
Association of interleukin-33 gene polymorphisms with susceptibility to Plasmodium falciparum infection.
PMID 42277861 | PMCID PMC13483537 | DOI 10.1186/s12936-026-05996-9 · Malaria journal · 2026 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | malaria | “BACKGROUND: Host immune genetic variation contributes to inter-individual differences in susceptibility to Plasmodium falciparum malaria and parasite-burden response.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia, Jazan | “Interleukin-33 (IL-33), an IL-1 family alarmin signaling through ST2, regulates innate and adaptive immune responses during infection. METHODS: This case-control study included 250 individuals with active P. falciparum malaria and 200 healthy controls from the Jazan region of Southwestern Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| variant | rs10118795 | “RESULTS: rs10118795 CT was associated with increased malaria susceptibility (OR = 1.584, 95% CI 1.068-2.350; p = 0.022), whereas rs55726619 CT showed a protective association (OR = 0.042, 95% CI 0.002-0.725; p < 0.001). rs55726619 showed the most consistent parasite-burden association, including with the highest parasite-density category.” | 0.90 | hgvs_regex_v1 |
| variant | rs55726619 | “RESULTS: rs10118795 CT was associated with increased malaria susceptibility (OR = 1.584, 95% CI 1.068-2.350; p = 0.022), whereas rs55726619 CT showed a protective association (OR = 0.042, 95% CI 0.002-0.725; p < 0.001). rs55726619 showed the most consistent parasite-burden association, including with the highest parasite-density category.” | 0.90 | hgvs_regex_v1 |
A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case Report.
PMID 42353838 | PMCID PMC13300355 | DOI 10.3390/genes17060679 · Genes · 2026 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COL1A1 | “A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case Report.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A2 | “It is typically caused by heterozygous splice-site variants in COL1A1 or COL1A2, leading to exon 6 skipping.” | 0.98 | hgnc_dict_v1 |
| phenotype | Ehlers-Danlos syndrome | “A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case Report.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Autosomal recessive forms are extremely rare and have been reported predominantly in families from Saudi Arabia carrying the homozygous COL1A1 missense variant c.2050G>A, p.(Glu684Lys), with clinical presentations ranging from severe to mild.” | 0.95 | saudi_context_rules_v1 |
DNAJC3-Related Syndromic Monogenic Diabetes Without Clinically Evident Neurological Manifestations in an Adult: Expanding the Phenotypic Spectrum.
PMID 42353846 | PMCID PMC13299322 | DOI 10.3390/genes17060687 · Genes · 2026 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | DNAJC3 | “Results: Genetic analysis using whole-exome sequencing identified a homozygous likely pathogenic DNAJC3 variant, c.1177C>T p.(Arg393*), confirming the diagnosis of DNAJC3-related syndromic monogenic diabetes.” | 0.98 | hgnc_dict_v1 |
| phenotype | hearing loss | “Background/Objectives: DNAJC3-related syndromic monogenic diabetes is a rare autosomal recessive disorder that presents as juvenile-onset non-autoimmune diabetes; it has been associated with sensorineural hearing loss, hypothyroidism, short stature, and variable degrees of neurological manifestations.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | diabetes mellitus | “DNAJC3-Related Syndromic Monogenic Diabetes Without Clinically Evident Neurological Manifestations in an Adult: Expanding the Phenotypic Spectrum.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Methods: We report a 34-year-old Saudi male from a consanguineous family with insulin-treated diabetes diagnosed during adolescence. In individuals with atypical diabetes accompanied by multisystem involvement, particularly in the setting of consanguinity, early consideration of monogenic diabetes and timely genetic testing may facilitate accurate diagnosis and molecular classification.” | 0.95 | saudi_context_rules_v1 |
Amyotrophic lateral sclerosis in Saudi Arabia: a multicenter descriptive study.
PMID 41283823 | DOI 10.1080/21678421.2025.2582835 · Amyotrophic lateral sclerosis & frontotemporal degeneration · 2026 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | C9orf72 | “Clinical genetic testing was performed at the clinician's discretion; variants were classified per ACMG and only pathogenic/likely pathogenic results were counted; C9orf72 repeat-expansion testing was not systematically available.” | 0.98 | hgnc_dict_v1 |
| gene | SOD1 | “Prespecified variables included demographics, family history, initial phenotype, MRI/EMG, genetics, treatments (riluzole, edaravone, SPT, tofersen for SOD1), times to noninvasive ventilation (NIV), gastrostomy and invasive ventilation.” | 0.98 | hgnc_dict_v1 |
| gene | OPTN | “37/270 underwent genetic testing; 56.7% were positive-most commonly OPTN (47.6.6% of positives) and SOD1 (38.1%).” | 0.98 | hgnc_dict_v1 |
| phenotype | amyotrophic lateral sclerosis | “Amyotrophic lateral sclerosis in Saudi Arabia: a multicenter descriptive study.” | 0.98 | phenotype_alias_lexicon_v2 |
Clinical and Genetic Characterization of Hereditary Sensory and Autonomic Neuropathy Type IV in a Consanguineous Population: Identification of Novel NTRK1 Variants and Expansion of Phenotypic Spectrum.
PMID 41474134 | DOI 10.1002/ajmga.70019 · American journal of medical genetics. Part A · 2026 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NTRK1 | “Clinical and Genetic Characterization of Hereditary Sensory and Autonomic Neuropathy Type IV in a Consanguineous Population: Identification of Novel NTRK1 Variants and Expansion of Phenotypic Spectrum.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Clinical and Genetic Characterization of Hereditary Sensory and Autonomic Neuropathy Type IV in a Consanguineous Population: Identification of Novel NTRK1 Variants and Expansion of Phenotypic Spectrum. While some variants suggest a possible founder effect, the identification of new variants reflects the genetic diversity within the Saudi population. This study provides clinical information on a large number of patients, updates the prevalence and epidemiologic data in our population, and further expands the understanding of the disease's genetic and clinical spectrum within a highly consanguineous population.” | 0.95 | saudi_context_rules_v1 |
| variant | c.1922T>C | “We identified seven different variants within our cohort, including two novel variants (c.1922T>C:p.Leu641Pro and c.1071_1072insTGCC:p.Asn358Cysfs*45).” | 0.95 | hgvs_regex_v1 |
| variant | p.Leu641Pro | “We identified seven different variants within our cohort, including two novel variants (c.1922T>C:p.Leu641Pro and c.1071_1072insTGCC:p.Asn358Cysfs*45).” | 0.95 | hgvs_regex_v1 |
Safety and preliminary efficacy of adding tocilizumab to cisplatin/docetaxel for the treatment of locally advanced triple-negative breast cancer patients: prospective phase 1/2 clinical trial.
PMID 41634354 | PMCID PMC12920923 | DOI 10.1038/s41598-026-38465-z · Scientific reports · 2026 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “The status of the BRCA1 and BRCA2 genes was determined by DNA sequencing in all patients.” | 0.98 | hgnc_dict_v1 |
| gene | BRCA2 | “The status of the BRCA1 and BRCA2 genes was determined by DNA sequencing in all patients.” | 0.98 | hgnc_dict_v1 |
| gene | SCTR | “SCTR 19,111,002 (Saudi Food and Drug Authority) “Singlearm Phase I/II study of the safety, tolerability and efficacy of the Tocilizumab followed by cisplatin/docetaxel in patients with triple negative locally advanced breast cancer” (registration date 12/03/2020).” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Safety and preliminary efficacy of adding tocilizumab to cisplatin/docetaxel for the treatment of locally advanced triple-negative breast cancer patients: prospective phase 1/2 clinical trial.” | 0.98 | phenotype_alias_lexicon_v2 |
Identification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (NNT) underlying familial glucocorticoid deficiency-type 4 in multiple Saudi families.
PMID 41717321 | PMCID PMC12914316 | DOI 10.1016/j.jcte.2026.100433 · Journal of clinical & translational endocrinology · 2026 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NNT | “Identification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (NNT) underlying familial glucocorticoid deficiency-type 4 in multiple Saudi families.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Identification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (NNT) underlying familial glucocorticoid deficiency-type 4 in multiple Saudi families. Here we report three consanguineous families with single nucleotide variants in NNT that manifest as familial glucocorticoid deficiency in multiple family members.” | 0.95 | saudi_context_rules_v1 |
| variant | p.Thr356Ile | “RESULTS: The screening of entire coding region of the genomes of probands in each family revealed three distinct mutations, including one novel missense variant (c.1067 C > T; p.Thr356Ile), classified as variant of uncertain significance (VUS; Class-3) and two recurrent variants (c.1025 T > C; p.Val342Ala and c.98dup; p.Leu33Phefs*13), classified as pathogenic [Class-I].” | 0.95 | hgvs_regex_v1 |
| variant | p.Val342Ala | “RESULTS: The screening of entire coding region of the genomes of probands in each family revealed three distinct mutations, including one novel missense variant (c.1067 C > T; p.Thr356Ile), classified as variant of uncertain significance (VUS; Class-3) and two recurrent variants (c.1025 T > C; p.Val342Ala and c.98dup; p.Leu33Phefs*13), classified as pathogenic [Class-I].” | 0.95 | hgvs_regex_v1 |
Clinical Pharmacogenomic Variants Among the Saudi Population and Their Impact on Drug Response: A Review of Saudi-Based Evidence.
PMID 41728397 | PMCID PMC12922637 | DOI 10.7759/cureus.101993 · Cureus · 2026 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | VKORC1 | “The primary meta-analysis revealed a high-certainty association between VKORC1 and CYP2C9 variants and warfarin sensitivity, with variant carriers requiring a substantially lower maintenance dose (pooled mean difference: -20.68 mg/week; 95% confidence interval [CI]: -35.66 to -5.70).” | 0.98 | hgnc_dict_v1 |
| gene | CYP2C9 | “The primary meta-analysis revealed a high-certainty association between VKORC1 and CYP2C9 variants and warfarin sensitivity, with variant carriers requiring a substantially lower maintenance dose (pooled mean difference: -20.68 mg/week; 95% confidence interval [CI]: -35.66 to -5.70).” | 0.98 | hgnc_dict_v1 |
| gene | CYP2C19 | “Regarding findings from individual studies and single gene-drug pairs, CYP2C19 loss-of-function alleles were strongly associated with clopidogrel non-response in the primary study on this topic (odds ratio: 3.43), and the CYP3A5 genotype was identified as a critical determinant of tacrolimus trough levels with a large effect size (Hedges' g = 1.59).” | 0.98 | hgnc_dict_v1 |
| gene | CYP3A5 | “Regarding findings from individual studies and single gene-drug pairs, CYP2C19 loss-of-function alleles were strongly associated with clopidogrel non-response in the primary study on this topic (odds ratio: 3.43), and the CYP3A5 genotype was identified as a critical determinant of tacrolimus trough levels with a large effect size (Hedges' g = 1.59).” | 0.98 | hgnc_dict_v1 |
Autism Spectrum Disorder Associated With a CACNA1I Variant of Uncertain Significance: A Case Report.
PMID 41798403 | PMCID PMC12965731 | DOI 10.7759/cureus.102980 · Cureus · 2026 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CACNA1I | “Autism Spectrum Disorder Associated With a CACNA1I Variant of Uncertain Significance: A Case Report.” | 0.98 | hgnc_dict_v1 |
| phenotype | autism spectrum disorder | “Autism Spectrum Disorder Associated With a CACNA1I Variant of Uncertain Significance: A Case Report.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “We report a six-year-old Saudi girl with early-onset and persistent deficits in social communication, profound speech impairment, stereotyped behaviors, sensory dysregulation, and significant adaptive and cognitive delays.” | 0.95 | saudi_context_rules_v1 |
| variant | c.6028G>T | “Whole-exome sequencing (CentoGenome® MOX 1.0 Solo) identified a heterozygous CACNA1I missense variant (NM_021096.3:c.6028G>T; p.Ala2010Ser) classified as a variant of uncertain significance, not present in population databases and interpreted as potentially de novo, with a possible splice effect flagged despite largely benign in silico predictions.” | 0.95 | hgvs_regex_v1 |
Association of genetic variants in cyclin-dependent kinase 5 with Alzheimer's disease in a Saudi cohort.
PMID 41848386 | DOI 10.1177/13872877261427358 · Journal of Alzheimer's disease : JAD · 2026 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CDK5 | “BackgroundCyclin-dependent kinase 5 (CDK5) plays a critical role in neuronal development, synaptic plasticity, and cytoskeletal regulation.” | 0.98 | hgnc_dict_v1 |
| phenotype | Alzheimer disease | “Association of genetic variants in cyclin-dependent kinase 5 with Alzheimer's disease in a Saudi cohort.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Association of genetic variants in cyclin-dependent kinase 5 with Alzheimer's disease in a Saudi cohort. Its dysregulation has been implicated in Alzheimer's disease (AD); however, supporting genetic evidence remains limited in Middle Eastern populations.ObjectiveThis study aimed to identify CDK5 genetic variants in a Saudi cohort with AD and evaluate their association with disease susceptibility, without addressing downstream functional mechanisms.MethodsPeripheral blood samples were obtained from 52 Saudi patients with AD and 60 age- and sex-matched healthy controls. Conversely, the synonymous c.855C > T variant (Exon 12) was more common in controls (23%) than cases (5%) (p < 0.01), indicating a significant association between specific CDK5 variants and AD.ConclusionsIdentification of novel CDK5 variants associated with AD in a Saudi cohort highlights population-specific genetic susceptibility.” | 0.95 | saudi_context_rules_v1 |
| variant | c.105delG | “Variant screening and frequency comparisons were performed between dementia and control groups.ResultsEight CDK5 variants were identified in exonic (2, 12) and intronic (1-2, 7-8, 11-12) regions, including three novel variants (c.105delG, c.858C > T, and one intronic variant).” | 0.95 | hgvs_regex_v1 |
Clinical, genetic and bioinformatic analysis of Saudi families with Joubert syndrome and related disorders.
PMID 41965849 | PMCID PMC13200349 | DOI 10.1186/s40246-026-00953-8 · Human genomics · 2026 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KIF7 | “RESULTS: Homozygous variants were identified in three consanguineous Saudi families, including a novel stop-gain variant in KIF7 (c.2992 C > T; p.(Gln998Ter)), and novel splice-site variant in CEP104 (c.489 + 1G > A) and a previously reported splice-site variant in TMEM237 (c.869 + 1G > A).” | 0.98 | hgnc_dict_v1 |
| gene | CEP104 | “RESULTS: Homozygous variants were identified in three consanguineous Saudi families, including a novel stop-gain variant in KIF7 (c.2992 C > T; p.(Gln998Ter)), and novel splice-site variant in CEP104 (c.489 + 1G > A) and a previously reported splice-site variant in TMEM237 (c.869 + 1G > A).” | 0.98 | hgnc_dict_v1 |
| gene | TMEM237 | “RESULTS: Homozygous variants were identified in three consanguineous Saudi families, including a novel stop-gain variant in KIF7 (c.2992 C > T; p.(Gln998Ter)), and novel splice-site variant in CEP104 (c.489 + 1G > A) and a previously reported splice-site variant in TMEM237 (c.869 + 1G > A).” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Clinical, genetic and bioinformatic analysis of Saudi families with Joubert syndrome and related disorders. However, data on JSRD in the Saudi population remain limited. This study aimed to identify novel and reported JSRD-causing variants in Saudi families and analyze their potential functional impact on protein structure using advanced computational tools. RESULTS: Homozygous variants were identified in three consanguineous Saudi families, including a novel stop-gain variant in KIF7 (c.2992 C > T; p.(Gln998Ter)), and novel splice-site variant in CEP104 (c.489 + 1G > A) and a previously reported splice-site variant in TMEM237 (c.869 + 1G > A). CONCLUSION: This study identified three pathogenic variants in JSRD-related genes in Saudi families, including two novel variants. These findings expand the variant spectrum for JSRD, particularly in the Saudi population. Establishing a comprehensive regional variant database is essential for improving molecular diagnosis and genetic counseling in population with high consanguinity.” | 0.95 | saudi_context_rules_v1 |
Clinical Discovery and Molecular Analysis of Two Novel MSH2 Gene Mutations (p.Ala771Gly and p.Val797Gly) in Saudi Colorectal Cancer Patients: Potential Implications for Tumorigenesis.
PMID 42005635 | PMCID PMC13087622 | DOI 10.1002/hsr2.72146 · Health science reports · 2026 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MSH2 | “Clinical Discovery and Molecular Analysis of Two Novel MSH2 Gene Mutations (p.Ala771Gly and p.Val797Gly) in Saudi Colorectal Cancer Patients: Potential Implications for Tumorigenesis.” | 0.98 | hgnc_dict_v1 |
| phenotype | colorectal cancer | “Clinical Discovery and Molecular Analysis of Two Novel MSH2 Gene Mutations (p.Ala771Gly and p.Val797Gly) in Saudi Colorectal Cancer Patients: Potential Implications for Tumorigenesis.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Clinical Discovery and Molecular Analysis of Two Novel MSH2 Gene Mutations (p.Ala771Gly and p.Val797Gly) in Saudi Colorectal Cancer Patients: Potential Implications for Tumorigenesis. METHODS: Tumor tissues were obtained from 84 Saudi CRC patients, and their disease data and tumor characteristics were recorded.” | 0.95 | saudi_context_rules_v1 |
| variant | p.Ala771Gly | “Clinical Discovery and Molecular Analysis of Two Novel MSH2 Gene Mutations (p.Ala771Gly and p.Val797Gly) in Saudi Colorectal Cancer Patients: Potential Implications for Tumorigenesis.” | 0.95 | hgvs_regex_v1 |
Jagged-1 mutation is associated with congenital heart defects: a case report.
PMID 42093019 | PMCID PMC13173698 | DOI 10.1186/s13256-026-06096-7 · Journal of medical case reports · 2026 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | JAG1 | “Congenital heart defects can result from mutations in genes encoding cell signaling transducers such as Jagged-1 (JAG1).” | 0.98 | hgnc_dict_v1 |
| phenotype | hypertension | “She developed bronchopulmonary dysplasia and pulmonary hypertension.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | congenital heart disease | “BACKGROUND: Congenital heart defects (CHD) refer to a wide range of heart structural abnormalities that exist at birth, ranging from malformations with a good prognosis to more complicated and severe lesions.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “CASE PRESENTATION: Here, we present a case of a Saudi Arabian female child who was born extremely preterm.” | 0.95 | saudi_context_rules_v1 |
SDHB-associated paraganglioma in Saudi Arabia: High metastatic risk linked to a likely founder mutation.
PMID 42164133 | PMCID PMC13186189 | DOI 10.1210/jendso/bvag070 · Journal of the Endocrine Society · 2026 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SDHB | “RESULTS: We identified 37 patients with SDHB mutations, including 14 (37.8%) females and 23 (62.2%) males, with a median age at diagnosis of 28 years (range, 6-49).” | 0.98 | hgnc_dict_v1 |
| phenotype | leukemia | “At a median follow-up of 7 years (IQR 3.5-15), only 10 patients (27%) achieved remission, 7 (18.9%) died due to PPGL, one patient died due to leukemia, and 19 patients (51.4%) continued to have evidence of locally invasive or metastatic disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “SDHB-associated paraganglioma in Saudi Arabia: High metastatic risk linked to a likely founder mutation. OBJECTIVE: To characterize the phenotype, genotype, and outcome of SDHB-associated PPGLs in Saudi Arabia. METHODS: We retrospectively reviewed a cohort of 37 patients with SDHB-associated PPGL.” | 0.95 | saudi_context_rules_v1 |
| variant | c.268T>C | “The most common SDHB mutation (likely a founder mutation) was the truncating mutation c.268T>C (p.R90*), which occurred in 23/37 patients (62%).” | 0.95 | hgvs_regex_v1 |
Posterior microphthalmia related to PRSS56 variants in a Saudi cohort: a longitudinal study of visual function.
PMID 42184889 | DOI 10.1016/j.jaapos.2026.104865 · Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2026 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PRSS56 | “Posterior microphthalmia related to PRSS56 variants in a Saudi cohort: a longitudinal study of visual function.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia, Jeddah | “Posterior microphthalmia related to PRSS56 variants in a Saudi cohort: a longitudinal study of visual function. METHODS: This retrospective, longitudinal case series was conducted at King Fahd Armed Forces Hospital, Jeddah, Saudi. Six patients from 4 consanguineous Saudi families were followed for 2-16 years (median, 10); 2 more patients had only single visits. CONCLUSIONS: This PM case series highlights the role of early diagnosis and genetic testing in managing PM, especially in consanguineous populations.” | 0.95 | saudi_context_rules_v1 |
| variant | c.1066dup | “Genetic testing identified pathogenic homozygous PRSS56 variants, including c.1066dup, c.388T>G, and a novel nonsense variant c.1405G>T p.(Glu469∗).” | 0.95 | hgvs_regex_v1 |
| variant | c.388T>G | “Genetic testing identified pathogenic homozygous PRSS56 variants, including c.1066dup, c.388T>G, and a novel nonsense variant c.1405G>T p.(Glu469∗).” | 0.95 | hgvs_regex_v1 |
Prevalence of BRCA1 and BRCA2 Germline Mutations in Western Saudi Patients with Epithelial Tubo-Ovarian Carcinoma.
PMID 42239567 | PMCID PMC13227442 | DOI 10.15537/1658-3175.8779 · Saudi medical journal · 2026 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BRCA1 | “Prevalence of BRCA1 and BRCA2 Germline Mutations in Western Saudi Patients with Epithelial Tubo-Ovarian Carcinoma.” | 0.98 | hgnc_dict_v1 |
| gene | BRCA2 | “Prevalence of BRCA1 and BRCA2 Germline Mutations in Western Saudi Patients with Epithelial Tubo-Ovarian Carcinoma.” | 0.98 | hgnc_dict_v1 |
| phenotype | ovarian cancer | “OBJECTIVE: Ovarian cancer represents the most lethal gynecologic malignancy, the epithelial type (EOC) being the most common.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | diabetes mellitus | “BRCA-positive patients demonstrated significant associations with familial history of cancer (p < 0.001) and lower diabetes mellitus rates (p = 0.02).” | 0.98 | phenotype_alias_lexicon_v2 |
A Novel Renal Manifestation in GLIS3-Related Disorder in a Pediatric Patient With Cystic Nephroma.
PMID 42327870 | PMCID PMC13278721 | DOI 10.14740/jmc5300 · Journal of medical cases · 2026 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | GLIS3 | “A 10-year-old Saudi girl with a homozygous GLIS3 gene deletion presented with the classic triad of neonatal diabetes mellitus, congenital hypothyroidism, and congenital glaucoma.” | 0.98 | hgnc_dict_v1 |
| gene | MEST | “Comprehensive imaging and histopathological analysis following a core needle biopsy diagnosed a benign multicystic nephroma with features of a mixed epithelial and stromal tumor (MEST).” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “A 10-year-old Saudi girl with a homozygous GLIS3 gene deletion presented with the classic triad of neonatal diabetes mellitus, congenital hypothyroidism, and congenital glaucoma.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | primary congenital glaucoma | “A 10-year-old Saudi girl with a homozygous GLIS3 gene deletion presented with the classic triad of neonatal diabetes mellitus, congenital hypothyroidism, and congenital glaucoma.” | 0.93 | phenotype_alias_lexicon_v2 |
Genetic and molecular architecture of multiple sclerosis in gulf cooperation council populations: A scoping review and regional precision-neurology perspective.
PMID 42398277 | DOI 10.1016/j.msard.2026.107354 · Multiple sclerosis and related disorders · 2026 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HLA-DRB1 | “The available evidence suggests, but does not prove, that MS susceptibility in GCC populations may be heterogeneous and not fully explained by Western-derived HLA-DRB1×15:01-centered models.” | 0.98 | hgnc_dict_v1 |
| gene | OASL | “Bahrain contributes HLA and transcriptomic/biomarker evidence, including inflammatory molecular signals involving IL-1RA, OASL, TNF-AIP6, CLC, DOCK4, and TMEM66 that require prospective validation.” | 0.98 | hgnc_dict_v1 |
| gene | DOCK4 | “Bahrain contributes HLA and transcriptomic/biomarker evidence, including inflammatory molecular signals involving IL-1RA, OASL, TNF-AIP6, CLC, DOCK4, and TMEM66 that require prospective validation.” | 0.98 | hgnc_dict_v1 |
| phenotype | multiple sclerosis | “Genetic and molecular architecture of multiple sclerosis in gulf cooperation council populations: A scoping review and regional precision-neurology perspective.” | 0.98 | phenotype_alias_lexicon_v2 |
Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report.
PMID 40457931 | PMCID PMC13055154 | DOI 10.4081/dr.2025.10177 · Dermatology reports · 2026 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | LIPH | “Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report.” | 0.98 | hgnc_dict_v1 |
| gene | LPAR6 | “Mutations in the Lipase H (LIPH) gene, LPAR6, or other genes cause this hereditary hair condition.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “We report a case of an 11-month-old Saudi boy who presented to our dermatology clinic at King Fahad University Hospital in Al-Khobar (Saudi Arabia) with short, non-growing hair since birth.” | 0.95 | saudi_context_rules_v1 |
| variant | c.280_369dup | “DNA sequencing revealed a homozygous mutation in the LIPH gene at c.280_369dup.” | 0.95 | hgvs_regex_v1 |
A Novel Homozygous Splice Variant in the NUP188 Gene Causing Sandestig-Stefanova Syndrome in a Saudi Patient.
PMID 40859750 | DOI 10.1002/ajmg.a.64236 · American journal of medical genetics. Part A · 2026 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NUP188 | “A Novel Homozygous Splice Variant in the NUP188 Gene Causing Sandestig-Stefanova Syndrome in a Saudi Patient.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital heart disease | “The proband has multiple system involvement, including ophthalmology, central nervous system, skin, distinct facial features, congenital heart disease, and respiratory system; eventually, he passed away with respiratory failure.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “A Novel Homozygous Splice Variant in the NUP188 Gene Causing Sandestig-Stefanova Syndrome in a Saudi Patient. To date, only 10 cases have been reported in the literature.” | 0.95 | saudi_context_rules_v1 |
| variant | c.1962-2A>C | “A novel splice variant was identified using ES (NM_015354.2c.1962-2A>C p.(?)).” | 0.82 | literature_variant_regex_v2 |
Frequency of thiopurine methyltransferase variants and exploratory predictors of azathioprine-induced leukopenia in Saudi patients with inflammatory bowel disease.
PMID 41190631 | PMCID PMC12867320 | DOI 10.4103/sjg.sjg_195_25 · Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association · 2026 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TPMT | “Thiopurine methyltransferase (TPMT) genotyping can predict azathioprine-induced leukopenia (AIL), but data on TPMT polymorphisms in Saudi IBD patients are scarce.” | 0.98 | hgnc_dict_v1 |
| gene | NUDT15 | “These findings highlight the importance of comprehensive hematological monitoring and support the need for future research incorporating additional pharmacogenetic markers such as NUDT15.” | 0.98 | hgnc_dict_v1 |
| phenotype | inflammatory bowel disease | “Frequency of thiopurine methyltransferase variants and exploratory predictors of azathioprine-induced leukopenia in Saudi patients with inflammatory bowel disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Frequency of thiopurine methyltransferase variants and exploratory predictors of azathioprine-induced leukopenia in Saudi patients with inflammatory bowel disease. Thiopurine methyltransferase (TPMT) genotyping can predict azathioprine-induced leukopenia (AIL), but data on TPMT polymorphisms in Saudi IBD patients are scarce. We aimed to determine the frequency of TPMT genotype variations in adult Saudi IBD patients and its association with AIL. METHODS:: We conducted a retrospective analysis including 90 adult IBD patients treated with azathioprine. CONCLUSIONS:: TPMT variants were rare in this Saudi IBD cohort, consistent with other Asian populations, which limited the ability to assess their clinical impact.” | 0.95 | saudi_context_rules_v1 |
Rafiq syndrome in a Saudi patient: novel homozygous MAN1B1 variant (c.1118C>G; p.Pro373Arg) and expanded phenotypic spectrum.
PMID 41246981 | DOI 10.1097/MCD.0000000000000543 · Clinical dysmorphology · 2026 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MAN1B1 | “Rafiq syndrome in a Saudi patient: novel homozygous MAN1B1 variant (c.1118C>G; p.Pro373Arg) and expanded phenotypic spectrum.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Rafiq syndrome in a Saudi patient: novel homozygous MAN1B1 variant (c.1118C>G; p.Pro373Arg) and expanded phenotypic spectrum.” | 0.95 | saudi_context_rules_v1 |
| variant | c.1118C>G | “Rafiq syndrome in a Saudi patient: novel homozygous MAN1B1 variant (c.1118C>G; p.Pro373Arg) and expanded phenotypic spectrum.” | 0.95 | hgvs_regex_v1 |
| variant | p.Pro373Arg | “Rafiq syndrome in a Saudi patient: novel homozygous MAN1B1 variant (c.1118C>G; p.Pro373Arg) and expanded phenotypic spectrum.” | 0.95 | hgvs_regex_v1 |
Autism Spectrum Disorder and Long-Term Survival in Attenuated Molybdenum Cofactor Deficiency Type A: A Case Report From Saudi Arabia.
PMID 41658802 | PMCID PMC12873551 | DOI 10.7759/cureus.100887 · Cureus · 2026 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MOCS1 | “We report the case of an 18-year-old male with genetically confirmed molybdenum cofactor deficiency type A (MoCD-A) due to a homozygous pathogenic MOCS1 variant.” | 0.98 | hgnc_dict_v1 |
| phenotype | autism spectrum disorder | “Autism Spectrum Disorder and Long-Term Survival in Attenuated Molybdenum Cofactor Deficiency Type A: A Case Report From Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | developmental delay | “He presented in infancy with hypotonia and developmental delay and experienced a generalized tonic seizure at 20 months of age, followed by long-term seizure remission.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Autism Spectrum Disorder and Long-Term Survival in Attenuated Molybdenum Cofactor Deficiency Type A: A Case Report From Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
A Case of Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA Syndrome) and Long QT Interval in a 10-Year-Old Saudi Child.
PMID 41675948 | PMCID PMC12890232 | DOI 10.4103/sjmms.sjmms_716_25 · Saudi journal of medicine & medical sciences · 2026 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PUS1 | “Whole-exome sequencing (WES) revealed homozygous mutations in the PUS1 gene and heterozygous mutations in the KCNQ1 gene.” | 0.98 | hgnc_dict_v1 |
| gene | KCNQ1 | “Whole-exome sequencing (WES) revealed homozygous mutations in the PUS1 gene and heterozygous mutations in the KCNQ1 gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital myopathy | “A Case of Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA Syndrome) and Long QT Interval in a 10-Year-Old Saudi Child.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “A Case of Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA Syndrome) and Long QT Interval in a 10-Year-Old Saudi Child. In addition, while MLASA syndrome has been reported from several countries worldwide, we present the first patient with MLASA1 syndrome from the Kingdom of Saudi Arabia in this case report.” | 0.95 | saudi_context_rules_v1 |
A novel homozygous CA5A gene deletion in carbonic anhydrase VA deficiency presenting as developmental delay without metabolic crisis.
PMID 41736722 | PMCID PMC12926607 | DOI 10.1016/j.ymgmr.2026.101294 · Molecular genetics and metabolism reports · 2026 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CA5A | “A novel homozygous CA5A gene deletion in carbonic anhydrase VA deficiency presenting as developmental delay without metabolic crisis.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “A novel homozygous CA5A gene deletion in carbonic anhydrase VA deficiency presenting as developmental delay without metabolic crisis.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | intellectual disability | “The second patient, a 7-year-old girl born to consanguineous parents, had delayed motor and language milestones with persistent speech delay, microcephaly, and mild to moderate intellectual disability, but normal metabolic and neuroimaging findings.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “OBJECTIVE: We report three children from the same Saudi tribe with a novel homozygous deletion in CA5A gene, manifesting predominantly as developmental delay without hyperammonemia and major metabolic crises. The second patient, a 7-year-old girl born to consanguineous parents, had delayed motor and language milestones with persistent speech delay, microcephaly, and mild to moderate intellectual disability, but normal metabolic and neuroimaging findings.” | 0.95 | saudi_context_rules_v1 |
Pregnancy-Triggered Vaso-Occlusive Crises in Hemoglobin SE Disease Complicated by Glucose-6-Phosphate Dehydrogenase Deficiency: A Case Report.
PMID 41742975 | PMCID PMC12931828 | DOI 10.7759/cureus.102265 · Cureus · 2026 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | G6PD | “Hemoglobin SE (HbSE) disease is a rare hemoglobinopathy that may be associated with significant clinical complications despite its traditional characterization as a mild condition, and concomitant glucose-6-phosphate dehydrogenase (G6PD) deficiency can further complicate diagnosis and management.” | 0.98 | hgnc_dict_v1 |
| phenotype | glucose-6-phosphate dehydrogenase deficiency | “Pregnancy-Triggered Vaso-Occlusive Crises in Hemoglobin SE Disease Complicated by Glucose-6-Phosphate Dehydrogenase Deficiency: A Case Report.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | diabetes mellitus | “Six years later, during her fourth pregnancy complicated by gestational diabetes, she developed severe lower limb pain.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “We report the case of a 40-year-old Saudi woman with known G6PD deficiency who experienced recurrent vaso-occlusive crises triggered by pregnancy.” | 0.95 | saudi_context_rules_v1 |
Distinct mutational landscapes and phylogenomic insights of the SARS-CoV-2 delta variant in Pakistan and India: Regional evolution, novel mutations, and epidemiological implications.
PMID 41758893 | PMCID PMC12948076 | DOI 10.1371/journal.pone.0340704 · PloS one · 2026 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | COVID-19 | “Delta SARS-CoV-2 triggered a devastating wave of COVID-19 in India, infecting approximately 26% of the population (~357 million people) within four months, with ~0.4 million new cases per day, and around 250,000 reported deaths.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Delta SARS-CoV-2 triggered a devastating wave of COVID-19 in India, infecting approximately 26% of the population (~357 million people) within four months, with ~0.4 million new cases per day, and around 250,000 reported deaths. Phylogenomic analysis revealed that Pakistani isolates clustered primarily with Middle Eastern lineages, particularly from Saudi Arabia and Oman, suggesting international travel-linked introductions, rather than implying exclusive transmission routes.” | 0.95 | saudi_context_rules_v1 |
| variant | S84L | “Several globally common mutations, including ORF8: S84L, ORF1b: P1000L, and S: D157-158 deletions, were absent in both countries.” | 0.82 | literature_variant_regex_v2 |
| variant | P1000L | “Several globally common mutations, including ORF8: S84L, ORF1b: P1000L, and S: D157-158 deletions, were absent in both countries.” | 0.82 | literature_variant_regex_v2 |
Clinicopathological Landscape and Survival Outcomes of HER2-Low Breast Cancer in a Large Arab Cohort.
PMID 41792988 | DOI 10.1002/wjs.70267 · World journal of surgery · 2026 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PIK3CA | “Clinicopathological characteristics, biomarker profiles (ER, PR, Ki-67), molecular alterations (PIK3CA, TP53, BRCA) and survival outcomes (overall survival (OS), cancer-specific survival (CSS), disease-free survival (DFS), and distant disease-free survival (DDFS)) were compared.” | 0.98 | hgnc_dict_v1 |
| gene | TP53 | “Clinicopathological characteristics, biomarker profiles (ER, PR, Ki-67), molecular alterations (PIK3CA, TP53, BRCA) and survival outcomes (overall survival (OS), cancer-specific survival (CSS), disease-free survival (DFS), and distant disease-free survival (DDFS)) were compared.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Clinicopathological Landscape and Survival Outcomes of HER2-Low Breast Cancer in a Large Arab Cohort.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “METHODS: We retrospectively analyzed 1097 Saudi breast cancer patients for HER2 status by immunohistochemistry (IHC), classifying tumors as HER2-zero (IHC 0) or HER2-low (IHC 1+/2+ and FISH-negative). CONCLUSION: In this large, ethnically homogenous Saudi cohort, HER2-low breast cancer represents a distinct molecular and clinicopathological subtype with luminal like features, yet no prognostic advantage.” | 0.95 | saudi_context_rules_v1 |
Association of NLRP3 Inflammasome rs10754558 Polymorphism with Type 2 Diabetes Mellitus and Its Complications: Clinical and Bioinformatics Study.
PMID 41836362 | PMCID PMC12988750 | DOI 10.2147/DMSO.S586787 · Diabetes, metabolic syndrome and obesity : targets and therapy · 2026 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NLRP3 | “Association of NLRP3 Inflammasome rs10754558 Polymorphism with Type 2 Diabetes Mellitus and Its Complications: Clinical and Bioinformatics Study.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Association of NLRP3 Inflammasome rs10754558 Polymorphism with Type 2 Diabetes Mellitus and Its Complications: Clinical and Bioinformatics Study.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “METHODS: In this case control study, 250 T2DM cases and 150 matched-age and gender healthy subjects were genotyped for rs10754558. CONCLUSION: The NLRP3 rs10754558 C allele was associated with higher risk of T2DM and vascular complications in Saudi patients and correlated with elevated NLRP3 and IL-1β levels.” | 0.95 | saudi_context_rules_v1 |
| variant | rs10754558 | “Association of NLRP3 Inflammasome rs10754558 Polymorphism with Type 2 Diabetes Mellitus and Its Complications: Clinical and Bioinformatics Study.” | 0.90 | hgvs_regex_v1 |