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.
Knowledge-base search
35,285Articles
5,908Gene records
6,667Variant records
66,130Validated mentions
Latest literature
60 records shown · first 60WHO estimates of the global, regional, and national disease burden of nine foodborne chemicals, 2000-21: an updated data synthesis.
PMID 42302807 | DOI 10.1016/j.langlo.2026.103986 · The Lancet. Global health · 2027 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | intellectual disability | “The region of the Americas carried the highest foodborne chemical DALY rate in children younger than 5 years, with 749 DALYs (435-1260) per 100 000 children, mainly due to the effect of methylmercury on intellectual disability (91·0%).” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “The region of the Americas carried the highest foodborne chemical DALY rate in children younger than 5 years, with 749 DALYs (435-1260) per 100 000 children, mainly due to the effect of methylmercury on intellectual disability (91·0%).” | 0.80 | saudi_context_rules_v1 |
Exploring hypoxia-related genes as prognostic indicators in lung adenocarcinoma.
PMID 42234659 | PMCID PMC13232857 | DOI 10.1371/journal.pone.0349820 · PloS one · 2026 · 32 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MMP9 | “We further identified 201 common upregulated hub genes (including MMP9, CDH1, HSP90AB1, SOX2, CDKN2A, SPP1, EZH2) and 224 common downregulated hub genes (such as IL6, TNF, IL1B, JUN, CCL2, TLR4, FOS, PTGS2).” | 0.98 | hgnc_dict_v1 |
| gene | CDH1 | “We further identified 201 common upregulated hub genes (including MMP9, CDH1, HSP90AB1, SOX2, CDKN2A, SPP1, EZH2) and 224 common downregulated hub genes (such as IL6, TNF, IL1B, JUN, CCL2, TLR4, FOS, PTGS2).” | 0.98 | hgnc_dict_v1 |
| gene | HSP90AB1 | “We further identified 201 common upregulated hub genes (including MMP9, CDH1, HSP90AB1, SOX2, CDKN2A, SPP1, EZH2) and 224 common downregulated hub genes (such as IL6, TNF, IL1B, JUN, CCL2, TLR4, FOS, PTGS2).” | 0.98 | hgnc_dict_v1 |
| gene | SOX2 | “We further identified 201 common upregulated hub genes (including MMP9, CDH1, HSP90AB1, SOX2, CDKN2A, SPP1, EZH2) and 224 common downregulated hub genes (such as IL6, TNF, IL1B, JUN, CCL2, TLR4, FOS, PTGS2).” | 0.98 | hgnc_dict_v1 |
Beyond MDM2 amplification: chromosomal translocations as diagnostic drivers in adipocytic tumours-a histopathological and molecular reappraisal.
PMID 42059165 · The Malaysian journal of pathology · 2026 · 24 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MDM2 | “Beyond MDM2 amplification: chromosomal translocations as diagnostic drivers in adipocytic tumours-a histopathological and molecular reappraisal.” | 0.98 | hgnc_dict_v1 |
| gene | HMGA2 | “RESULTS: The collected data revealed that HMGA2 gene alteration is the initial finding.” | 0.98 | hgnc_dict_v1 |
| gene | NFIB | “In paediatric lipoma, two reports revealed translocations; the first one revealed a translocation involving t(8;13)(q21;q22) and HMGA2::NFIB gene fusion, and in the second report, the translocation t(9;12)(p22;q14) has been identified.” | 0.98 | hgnc_dict_v1 |
| gene | PLAG1 | “The presence of PLAG1 alteration is a fundamental oncogenic event that fused with other partners mainly COL1A2 gene and HAS2, and rarely with RAD51L1, and COL1A2, RAB2A, COL3A1, PCMTD1, SRSF3, HNRNPC, YWHAZ, CTDSP2, PPP2R2A, BOC, DDX6,, KLF10, and KANSL1L, SDCBP, HNRNPA2B1, other fusions like EP400::HMGA2 and FGD6::HMGA2 may be found.” | 0.98 | hgnc_dict_v1 |
The expression of pruritus-associated genes in seven skin diseases: Evidence from microarray.
PMID 41081460 | DOI 10.1111/jdv.70109 · Journal of the European Academy of Dermatology and Venereology : JEADV · 2026 · 19 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CLEC7A | “We found the top differentially upregulated pruritus-associated genes were CLEC7A, IL7R and TNFRSF1B in acne; HLA-DRA, IL2RG and POU2AF1 in alopecia areata; IL2RG, PLEC and CTLA4 in atopic dermatitis; CLEC7A, IL7R and LIPA in cutaneous lupus erythematosus; HLA-DRA, ABCA12 and IL7R in lichen planus; CLEC7A, TGM1 and SDR9C7 in psoriasis and IL7R, HLA-DRB1/HLA-DRB3/HLA-DRB4/HLA-DRB5/LOC105369230 and POU2AF1 in rosacea.” | 0.98 | hgnc_dict_v1 |
| gene | IL7R | “We found the top differentially upregulated pruritus-associated genes were CLEC7A, IL7R and TNFRSF1B in acne; HLA-DRA, IL2RG and POU2AF1 in alopecia areata; IL2RG, PLEC and CTLA4 in atopic dermatitis; CLEC7A, IL7R and LIPA in cutaneous lupus erythematosus; HLA-DRA, ABCA12 and IL7R in lichen planus; CLEC7A, TGM1 and SDR9C7 in psoriasis and IL7R, HLA-DRB1/HLA-DRB3/HLA-DRB4/HLA-DRB5/LOC105369230 and POU2AF1 in rosacea.” | 0.98 | hgnc_dict_v1 |
| gene | TNFRSF1B | “We found the top differentially upregulated pruritus-associated genes were CLEC7A, IL7R and TNFRSF1B in acne; HLA-DRA, IL2RG and POU2AF1 in alopecia areata; IL2RG, PLEC and CTLA4 in atopic dermatitis; CLEC7A, IL7R and LIPA in cutaneous lupus erythematosus; HLA-DRA, ABCA12 and IL7R in lichen planus; CLEC7A, TGM1 and SDR9C7 in psoriasis and IL7R, HLA-DRB1/HLA-DRB3/HLA-DRB4/HLA-DRB5/LOC105369230 and POU2AF1 in rosacea.” | 0.98 | hgnc_dict_v1 |
| gene | HLA-DRA | “We found the top differentially upregulated pruritus-associated genes were CLEC7A, IL7R and TNFRSF1B in acne; HLA-DRA, IL2RG and POU2AF1 in alopecia areata; IL2RG, PLEC and CTLA4 in atopic dermatitis; CLEC7A, IL7R and LIPA in cutaneous lupus erythematosus; HLA-DRA, ABCA12 and IL7R in lichen planus; CLEC7A, TGM1 and SDR9C7 in psoriasis and IL7R, HLA-DRB1/HLA-DRB3/HLA-DRB4/HLA-DRB5/LOC105369230 and POU2AF1 in rosacea.” | 0.98 | hgnc_dict_v1 |
Modeling the Effects of Single Nucleotide Polymorphisms (SNPs) on the Structure and Function of the Human RET Gene: An In Silico Study.
PMID 42369210 | PMCID PMC13309746 | DOI 10.1155/humu/8848146 · Human mutation · 2026 · 17 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | RET | “Modeling the Effects of Single Nucleotide Polymorphisms (SNPs) on the Structure and Function of the Human RET Gene: An In Silico Study.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Survival analyses revealed that RET dysregulation correlates with poor prognosis in thyroid cancer, lung carcinoma, breast cancer, and sarcoma.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | thyroid cancer | “Survival analyses revealed that RET dysregulation correlates with poor prognosis in thyroid cancer, lung carcinoma, breast cancer, and sarcoma.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | lung cancer | “Survival analyses revealed that RET dysregulation correlates with poor prognosis in thyroid cancer, lung carcinoma, breast cancer, and sarcoma.” | 0.93 | phenotype_alias_lexicon_v2 |
STK11 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 |
Heat Stress Effects on Milk Production and the Genomic Architecture of Thermotolerance in Dairy Cattle.
PMID 42187776 | PMCID PMC13203413 | DOI 10.3390/biology15100813 · Biology · 2026 · 16 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HSPA1A | “At the molecular level, HS activates heat shock protein networks-notably HSPA1A, HSP90B1, and HSPH1-through HSF1/HSF4 transcriptional activation, while simultaneously suppressing casein genes (CSN1S1, CSN2, CSN3), lipogenic genes (FASN, SCD, CD36), amino acid transporters (SLC7A5, SLC38A2), and mTOR-AKT-STAT5 translational machinery, collectively impairing milk biosynthetic capacity.” | 0.98 | hgnc_dict_v1 |
| gene | HSP90B1 | “At the molecular level, HS activates heat shock protein networks-notably HSPA1A, HSP90B1, and HSPH1-through HSF1/HSF4 transcriptional activation, while simultaneously suppressing casein genes (CSN1S1, CSN2, CSN3), lipogenic genes (FASN, SCD, CD36), amino acid transporters (SLC7A5, SLC38A2), and mTOR-AKT-STAT5 translational machinery, collectively impairing milk biosynthetic capacity.” | 0.98 | hgnc_dict_v1 |
| gene | HSF1 | “At the molecular level, HS activates heat shock protein networks-notably HSPA1A, HSP90B1, and HSPH1-through HSF1/HSF4 transcriptional activation, while simultaneously suppressing casein genes (CSN1S1, CSN2, CSN3), lipogenic genes (FASN, SCD, CD36), amino acid transporters (SLC7A5, SLC38A2), and mTOR-AKT-STAT5 translational machinery, collectively impairing milk biosynthetic capacity.” | 0.98 | hgnc_dict_v1 |
| gene | HSF4 | “At the molecular level, HS activates heat shock protein networks-notably HSPA1A, HSP90B1, and HSPH1-through HSF1/HSF4 transcriptional activation, while simultaneously suppressing casein genes (CSN1S1, CSN2, CSN3), lipogenic genes (FASN, SCD, CD36), amino acid transporters (SLC7A5, SLC38A2), and mTOR-AKT-STAT5 translational machinery, collectively impairing milk biosynthetic capacity.” | 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 |
EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.
PMID 41058046 | PMCID PMC13140528 | DOI 10.1093/brain/awaf371 · Brain : a journal of neurology · 2026 · 14 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | EIPR1 | “EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.” | 0.98 | hgnc_dict_v1 |
| gene | LAMP1 | “Moreover, these patient fibroblasts exhibit enlarged lysosomes, increased levels of the lysosomal membrane protein LAMP1, and increased levels of the autophagic markers LC3B-II and SQSTM1, all phenotypes previously associated with GARP deficiency.” | 0.98 | hgnc_dict_v1 |
| gene | SQSTM1 | “Moreover, these patient fibroblasts exhibit enlarged lysosomes, increased levels of the lysosomal membrane protein LAMP1, and increased levels of the autophagic markers LC3B-II and SQSTM1, all phenotypes previously associated with GARP deficiency.” | 0.98 | hgnc_dict_v1 |
| phenotype | neurodevelopmental disorder | “EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.” | 0.98 | phenotype_alias_lexicon_v2 |
Whole-exome sequencing in obstructive coronary artery disease identifies rare and novel variants in cardiac arrhythmia and pulmonary arterial hypertension-associated genes.
PMID 41564389 | PMCID PMC13021037 | DOI 10.17305/bb.2026.13200 · Biomolecules & biomedicine · 2026 · 14 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PAH | “We examined 74 genes curated from the Genomics England PanelApp, focusing on familial hypercholesterolemia (FH), cardiac arrhythmias (CA), and pulmonary arterial hypertension (PAH), ultimately detecting 8,251 variants.” | 0.98 | hgnc_dict_v1 |
| gene | SCN10A | “The highest burden of candidate variants was found in the sodium voltage-gated channel alpha subunit 10 (SCN10A), followed by the ryanodine receptor 2 (RYR2), mitochondrial seryl-tRNA synthetase 2 (SARS2), A-kinase anchoring protein 9 (AKAP9), and hyperpolarization-activated cyclic nucleotide-gated channel 4 (HCN4).” | 0.98 | hgnc_dict_v1 |
| gene | RYR2 | “The highest burden of candidate variants was found in the sodium voltage-gated channel alpha subunit 10 (SCN10A), followed by the ryanodine receptor 2 (RYR2), mitochondrial seryl-tRNA synthetase 2 (SARS2), A-kinase anchoring protein 9 (AKAP9), and hyperpolarization-activated cyclic nucleotide-gated channel 4 (HCN4).” | 0.98 | hgnc_dict_v1 |
| gene | SARS2 | “The highest burden of candidate variants was found in the sodium voltage-gated channel alpha subunit 10 (SCN10A), followed by the ryanodine receptor 2 (RYR2), mitochondrial seryl-tRNA synthetase 2 (SARS2), A-kinase anchoring protein 9 (AKAP9), and hyperpolarization-activated cyclic nucleotide-gated channel 4 (HCN4).” | 0.98 | hgnc_dict_v1 |
Transcriptomic and multi-layer variant analysis identifies STAT3 and HIF1A as central regulators of regulated cell death pathways in lung squamous cell carcinoma.
PMID 41714375 | DOI 10.1007/s00210-026-05103-4 · Naunyn-Schmiedeberg's archives of pharmacology · 2026 · 14 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | STAT3 | “Transcriptomic and multi-layer variant analysis identifies STAT3 and HIF1A as central regulators of regulated cell death pathways in lung squamous cell carcinoma.” | 0.98 | hgnc_dict_v1 |
| gene | HIF1A | “Transcriptomic and multi-layer variant analysis identifies STAT3 and HIF1A as central regulators of regulated cell death pathways in lung squamous cell carcinoma.” | 0.98 | hgnc_dict_v1 |
| gene | PPARG | “Network-based and regulatory enrichment analyses identified PPARG, STAT3, HIF1A, SMAD1, and ZBTB16 as central transcriptional regulators bridging apoptosis and necroptosis signaling in LUSC.” | 0.98 | hgnc_dict_v1 |
| gene | SMAD1 | “Network-based and regulatory enrichment analyses identified PPARG, STAT3, HIF1A, SMAD1, and ZBTB16 as central transcriptional regulators bridging apoptosis and necroptosis signaling in LUSC.” | 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 |
Integrative in silico analysis identifies functionally and regulatively relevant nsSNPs in the TRIB3 gene.
PMID 42398308 | DOI 10.1016/j.compbiolchem.2026.109227 · Computational biology and chemistry · 2026 · 14 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TRIB3 | “Integrative in silico analysis identifies functionally and regulatively relevant nsSNPs in the TRIB3 gene.” | 0.98 | hgnc_dict_v1 |
| variant | rs1242438181 | “RESULTS: Twelve high-confidence deleterious nsSNPs were consistently predicted and evaluated by all the tools used, namely, rs1242438181 (G69R), rs1016761523 (G69V), rs534352037 (Y71C), rs376597508 (M144K), rs1164746151 (F163S), rs2014979681 (C173R), rs149447454 (R181C), rs1445306127 (R181H), rs1411860615 (K184R), rs139447354 (R303W), rs201359012 (R303Q), and rs766581672 (W314R).” | 0.90 | hgvs_regex_v1 |
| variant | rs1016761523 | “RESULTS: Twelve high-confidence deleterious nsSNPs were consistently predicted and evaluated by all the tools used, namely, rs1242438181 (G69R), rs1016761523 (G69V), rs534352037 (Y71C), rs376597508 (M144K), rs1164746151 (F163S), rs2014979681 (C173R), rs149447454 (R181C), rs1445306127 (R181H), rs1411860615 (K184R), rs139447354 (R303W), rs201359012 (R303Q), and rs766581672 (W314R).” | 0.90 | hgvs_regex_v1 |
| variant | rs534352037 | “RESULTS: Twelve high-confidence deleterious nsSNPs were consistently predicted and evaluated by all the tools used, namely, rs1242438181 (G69R), rs1016761523 (G69V), rs534352037 (Y71C), rs376597508 (M144K), rs1164746151 (F163S), rs2014979681 (C173R), rs149447454 (R181C), rs1445306127 (R181H), rs1411860615 (K184R), rs139447354 (R303W), rs201359012 (R303Q), and rs766581672 (W314R).” | 0.90 | hgvs_regex_v1 |
Computational insights into PKCθ non-synonymous SNPs: from structural changes to functional implications.
PMID 40847819 | DOI 10.1080/07391102.2025.2550618 · Journal of biomolecular structure & dynamics · 2026 · 13 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PRKCQ | “This study focuses on the PRKCQ gene, encoding protein kinase C theta (PKCθ), a serine/threonine kinase belonging to the PKC family, involved in immune response and cancer progression.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Single-nucleotide polymorphisms (SNPs) play a critical role in individual diversity, genome evolution, and susceptibility to diseases such as cancer and diabetes.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | rs1838691533 | “Pathogenicity assessment using multiple bioinformatic tools identified six highly pathogenic non-synonymous SNPs (nsSNPs), all predicted to be oncogenic (rs1838691533 R6W, rs145984477 P27L, rs1248923790 C29Y, rs1837738907 R145C, rs1837738573 R146W, rs1403981107 L495P).” | 0.90 | hgvs_regex_v1 |
| variant | rs145984477 | “Pathogenicity assessment using multiple bioinformatic tools identified six highly pathogenic non-synonymous SNPs (nsSNPs), all predicted to be oncogenic (rs1838691533 R6W, rs145984477 P27L, rs1248923790 C29Y, rs1837738907 R145C, rs1837738573 R146W, rs1403981107 L495P).” | 0.90 | hgvs_regex_v1 |
Common variation at 1q23.3, 2p23.3, 2q33.3, and 2p21 influences the risk of acute myeloid leukemia.
PMID 41610418 | DOI 10.1182/blood.2025031266 · Blood · 2026 · 13 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | EFR3B | “We identify a new genome-wide significant risk locus for pan-AML at 2p23.3 (rs4665765; P = 1.35 × 10-8; EFR3B, POMC, DNMT3A, and DNAJC27), which also significantly associates with patient survival (P = 6.09 × 10-3).” | 0.98 | hgnc_dict_v1 |
| gene | POMC | “We identify a new genome-wide significant risk locus for pan-AML at 2p23.3 (rs4665765; P = 1.35 × 10-8; EFR3B, POMC, DNMT3A, and DNAJC27), which also significantly associates with patient survival (P = 6.09 × 10-3).” | 0.98 | hgnc_dict_v1 |
| gene | DNMT3A | “We identify a new genome-wide significant risk locus for pan-AML at 2p23.3 (rs4665765; P = 1.35 × 10-8; EFR3B, POMC, DNMT3A, and DNAJC27), which also significantly associates with patient survival (P = 6.09 × 10-3).” | 0.98 | hgnc_dict_v1 |
| gene | DNAJC27 | “We identify a new genome-wide significant risk locus for pan-AML at 2p23.3 (rs4665765; P = 1.35 × 10-8; EFR3B, POMC, DNMT3A, and DNAJC27), which also significantly associates with patient survival (P = 6.09 × 10-3).” | 0.98 | hgnc_dict_v1 |
Characterization of von Hippel Lindau gene variants in an African American cohort.
PMID 42026869 | PMCID PMC13207352 | DOI 10.1016/j.xhgg.2026.100617 · HGG advances · 2026 · 13 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | VHL | “Autosomal-dominant (AD) pathogenic/likely pathogenic (P/LP) variants in von Hippel-Lindau (VHL) gene cause VHL disease.” | 0.98 | hgnc_dict_v1 |
| population | Population | “Patients with a personal or family history of cancer but no lesions typical of VHL disease were categorized as "unclassified." Patients with an incomplete personal or family history available were noted as "unknown." Final analysis included 38 patients.” | 0.80 | saudi_context_rules_v1 |
| variant | p.Arg167Trp | “Substitution variants were most common (76%); p.Arg167Trp (c.499C>T) was the most common substitution (8%).” | 0.95 | hgvs_regex_v1 |
| variant | c.499C>T | “Substitution variants were most common (76%); p.Arg167Trp (c.499C>T) was the most common substitution (8%).” | 0.95 | hgvs_regex_v1 |
Dose-dependent neurotoxic effects of anastrozole via disrupting NLRP3 inflammasome and α-synuclein pathways.
PMID 42139902 | DOI 10.1016/j.tice.2026.103590 · Tissue & cell · 2026 · 13 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NLRP3 | “Dose-dependent neurotoxic effects of anastrozole via disrupting NLRP3 inflammasome and α-synuclein pathways.” | 0.98 | hgnc_dict_v1 |
| gene | PYCARD | “It was found that ANZ intoxication promoted the gene expression of NLRP3, PYCARD, CASP1, IL1-β, IL18, TXNIP, SNCA, and LRRK2 while suppressing the expression of PARK2, PINK1, PARK7 and UCHL1 in dose dependent manner.” | 0.98 | hgnc_dict_v1 |
| gene | CASP1 | “It was found that ANZ intoxication promoted the gene expression of NLRP3, PYCARD, CASP1, IL1-β, IL18, TXNIP, SNCA, and LRRK2 while suppressing the expression of PARK2, PINK1, PARK7 and UCHL1 in dose dependent manner.” | 0.98 | hgnc_dict_v1 |
| gene | IL18 | “It was found that ANZ intoxication promoted the gene expression of NLRP3, PYCARD, CASP1, IL1-β, IL18, TXNIP, SNCA, and LRRK2 while suppressing the expression of PARK2, PINK1, PARK7 and UCHL1 in dose dependent manner.” | 0.98 | hgnc_dict_v1 |
Vitamin D-related genetic variants as predictive biomarkers for breast cancer in Jordanian women.
PMID 42292230 | PMCID PMC13253258 | DOI 10.3389/fmed.2026.1816935 · Frontiers in medicine · 2026 · 13 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP2R1 | “Variants in CYP2R1, CYP24A1, CYP27B1, and DBP have been reported to influence circulating 25(OH)D concentrations and provide evidence for a hypothesis that these polymorphisms may be associated with breast cancer risk by altering vitamin D metabolism and signaling.” | 0.98 | hgnc_dict_v1 |
| gene | CYP24A1 | “Variants in CYP2R1, CYP24A1, CYP27B1, and DBP have been reported to influence circulating 25(OH)D concentrations and provide evidence for a hypothesis that these polymorphisms may be associated with breast cancer risk by altering vitamin D metabolism and signaling.” | 0.98 | hgnc_dict_v1 |
| gene | CYP27B1 | “Variants in CYP2R1, CYP24A1, CYP27B1, and DBP have been reported to influence circulating 25(OH)D concentrations and provide evidence for a hypothesis that these polymorphisms may be associated with breast cancer risk by altering vitamin D metabolism and signaling.” | 0.98 | hgnc_dict_v1 |
| gene | DBP | “Variants in CYP2R1, CYP24A1, CYP27B1, and DBP have been reported to influence circulating 25(OH)D concentrations and provide evidence for a hypothesis that these polymorphisms may be associated with breast cancer risk by altering vitamin D metabolism and signaling.” | 0.98 | hgnc_dict_v1 |
Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.
PMID 41821366 | DOI 10.1002/ajmg.a.70125 · American journal of medical genetics. Part A · 2026 · 12 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SKOR2 | “Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.” | 0.98 | hgnc_dict_v1 |
| gene | SHH | “SKOR2 (Fussel 18) is a transcriptional co-repressor that increases SHH (sonic hedgehog) expression which is a potent signal for granule cell proliferation and integration into the complex neuronal network that underlies cerebellar function and development.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.1877delC | “Variants identified in SKOR2 included homozygous c.1877delC; p.Pro626Glnfsx156 in the first individual, homozygous c.2752 + 1G>T in the second and third individuals, compound heterozygous c.757T>G p.C253G, c.949T>A p.S317T in the fourth individual, homozygous c.421_424del (p.Asp141Ilefs*118) in the fifth, sixth, and seventh individuals, and a homozygous c.1169C>A; p.Ser390* in the eighth individual.” | 0.95 | hgvs_regex_v1 |
Biomarker Variants of Dopamine Receptor Genes Influence the Binding Interaction Between Dopamine Receptor and Risperidone.
PMID 42052100 | PMCID PMC13117852 | DOI 10.2147/DDDT.S587705 · Drug design, development and therapy · 2026 · 12 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | DRD1 | “METHODS: Using state-of-the-art tools, the current study designed to predict the most deleterious SNPs of the five (DRD1, DRD2, DRD3, DRD4 and DRD5) dopamine receptors genes, and their impact on the function and structure of dopamine receptor protein and the binding with risperidone.” | 0.98 | hgnc_dict_v1 |
| gene | DRD2 | “METHODS: Using state-of-the-art tools, the current study designed to predict the most deleterious SNPs of the five (DRD1, DRD2, DRD3, DRD4 and DRD5) dopamine receptors genes, and their impact on the function and structure of dopamine receptor protein and the binding with risperidone.” | 0.98 | hgnc_dict_v1 |
| gene | DRD3 | “METHODS: Using state-of-the-art tools, the current study designed to predict the most deleterious SNPs of the five (DRD1, DRD2, DRD3, DRD4 and DRD5) dopamine receptors genes, and their impact on the function and structure of dopamine receptor protein and the binding with risperidone.” | 0.98 | hgnc_dict_v1 |
| gene | DRD4 | “METHODS: Using state-of-the-art tools, the current study designed to predict the most deleterious SNPs of the five (DRD1, DRD2, DRD3, DRD4 and DRD5) dopamine receptors genes, and their impact on the function and structure of dopamine receptor protein and the binding with risperidone.” | 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 |
Predictive biomarkers of COVID-19 impact in renal transplant patients: an exploratory proteomic and cytokine analysis.
PMID 42367818 | PMCID PMC13303355 | DOI 10.3389/fimmu.2026.1687147 · Frontiers in immunology · 2026 · 12 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SERPINF2 | “Eight proteins (SERPINF2, SAA1, HP, PLG, SERPINA3, CFHR1, HRG, and C4A) were associated with RTP-COVID and may represent candidate biomarkers of COVID-19 risk in RTPs.” | 0.98 | hgnc_dict_v1 |
| gene | SAA1 | “Eight proteins (SERPINF2, SAA1, HP, PLG, SERPINA3, CFHR1, HRG, and C4A) were associated with RTP-COVID and may represent candidate biomarkers of COVID-19 risk in RTPs.” | 0.98 | hgnc_dict_v1 |
| gene | SERPINA3 | “Eight proteins (SERPINF2, SAA1, HP, PLG, SERPINA3, CFHR1, HRG, and C4A) were associated with RTP-COVID and may represent candidate biomarkers of COVID-19 risk in RTPs.” | 0.98 | hgnc_dict_v1 |
| gene | CFHR1 | “Eight proteins (SERPINF2, SAA1, HP, PLG, SERPINA3, CFHR1, HRG, and C4A) were associated with RTP-COVID and may represent candidate biomarkers of COVID-19 risk in RTPs.” | 0.98 | hgnc_dict_v1 |
Expression of Tetraspanin 4 Relative to Therapy-induced Senescence Markers in Breast Cancer in Response to Neoadjuvant Chemotherapy.
PMID 41267427 | PMCID PMC12638236 | DOI 10.1369/00221554251391226 · The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2026 · 11 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TSPAN4 | “Tetraspanin 4 (TSPAN4 [NAG2]) has been implicated in tumor progression, however, its association with TIS remains unexplored.” | 0.98 | hgnc_dict_v1 |
| gene | LMNB1 | “Pairwise analysis of senescence-related gene expression (LMNB1, MKI67, CDKN1A, ATM, IGFBP7, MMP2, CXCL14, and CCL5) was performed in an independent geneset of 68 paired pre- and post-NAC BC patient samples.” | 0.98 | hgnc_dict_v1 |
| gene | MKI67 | “Pairwise analysis of senescence-related gene expression (LMNB1, MKI67, CDKN1A, ATM, IGFBP7, MMP2, CXCL14, and CCL5) was performed in an independent geneset of 68 paired pre- and post-NAC BC patient samples.” | 0.98 | hgnc_dict_v1 |
| gene | CDKN1A | “Pairwise analysis of senescence-related gene expression (LMNB1, MKI67, CDKN1A, ATM, IGFBP7, MMP2, CXCL14, and CCL5) was performed in an independent geneset of 68 paired pre- and post-NAC BC patient samples.” | 0.98 | hgnc_dict_v1 |
Characterization of monogenic diabetes among Sudanese children: a multi-center experience from a population with high consanguinity.
PMID 41275391 | PMCID PMC12780942 | DOI 10.1515/jpem-2025-0316 · Journal of pediatric endocrinology & metabolism : JPEM · 2026 · 11 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | EIF2AK3 | “The commonest causes in Group 1 and Group 2 were pathogenic variants in the EIF2AK3 and WFS1 genes, respectively.” | 0.98 | hgnc_dict_v1 |
| gene | WFS1 | “The commonest causes in Group 1 and Group 2 were pathogenic variants in the EIF2AK3 and WFS1 genes, respectively.” | 0.98 | hgnc_dict_v1 |
| gene | ZNF808 | “Pathogenic variants in recently reported novel genes ZNF808, NARS2, and FICD were detected in 8.5 %, 4.2%, and 1.4 % of patients, respectively.” | 0.98 | hgnc_dict_v1 |
| gene | NARS2 | “Pathogenic variants in recently reported novel genes ZNF808, NARS2, and FICD were detected in 8.5 %, 4.2%, and 1.4 % of patients, respectively.” | 0.98 | hgnc_dict_v1 |
Regulation of ER-Resident Transcription Factor NFE2L1 in HEK293 Cells.
PMID 41656087 | DOI 10.1248/bpb.b25-00607 · Biological & pharmaceutical bulletin · 2026 · 11 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NFE2L1 | “Regulation of ER-Resident Transcription Factor NFE2L1 in HEK293 Cells.” | 0.98 | hgnc_dict_v1 |
| gene | CREB3 | “Nuclear factor erythroid-derived 2 like 1 (NFE2L1) is reported to be embedded in the endoplasmic reticulum (ER) membrane and subsequently undergo N-glycosylation at several asparagine residues as well as other ER-resident factors including cAMP response element binding protein 3 (CREB3)/ATF6 family members.” | 0.98 | hgnc_dict_v1 |
| gene | ATF6 | “Nuclear factor erythroid-derived 2 like 1 (NFE2L1) is reported to be embedded in the endoplasmic reticulum (ER) membrane and subsequently undergo N-glycosylation at several asparagine residues as well as other ER-resident factors including cAMP response element binding protein 3 (CREB3)/ATF6 family members.” | 0.98 | hgnc_dict_v1 |
| gene | SEL1L | “Suppressor/enhancer of lin-12-like (SEL1L)/hydroxymethylglutaryl-CoA (HMG-CoA) reductase degradation 1 (Hrd1) loss increased NFE2L1 protein expression without any stimuli.” | 0.98 | hgnc_dict_v1 |
Identification of potential key genes and molecular mechanisms of oral squamous cell carcinoma based on integrated bioinformatics approach.
PMID 41839689 | PMCID PMC12994033 | DOI 10.1016/j.jgeb.2026.100668 · Journal, genetic engineering & biotechnology · 2026 · 11 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KIF23 | “The hub genes are Kinesin Family Member 23 (KIF23), Aurora Kinase A (AURKA), Centromere Protein F (CENPF), Cell Division Cycle 20 (CDC20), Discs Large Associated Protein 5 (DLGAP5), Centrosomal Protein 55 (CEP55), Anillin Actin Binding Protein (ANLN), Non-SMC Condensin I Complex Subunit G (NCAPG), and Kinesin Family Member 14 (KIF14).” | 0.98 | hgnc_dict_v1 |
| gene | AURKA | “The hub genes are Kinesin Family Member 23 (KIF23), Aurora Kinase A (AURKA), Centromere Protein F (CENPF), Cell Division Cycle 20 (CDC20), Discs Large Associated Protein 5 (DLGAP5), Centrosomal Protein 55 (CEP55), Anillin Actin Binding Protein (ANLN), Non-SMC Condensin I Complex Subunit G (NCAPG), and Kinesin Family Member 14 (KIF14).” | 0.98 | hgnc_dict_v1 |
| gene | CENPF | “The hub genes are Kinesin Family Member 23 (KIF23), Aurora Kinase A (AURKA), Centromere Protein F (CENPF), Cell Division Cycle 20 (CDC20), Discs Large Associated Protein 5 (DLGAP5), Centrosomal Protein 55 (CEP55), Anillin Actin Binding Protein (ANLN), Non-SMC Condensin I Complex Subunit G (NCAPG), and Kinesin Family Member 14 (KIF14).” | 0.98 | hgnc_dict_v1 |
| gene | CDC20 | “The hub genes are Kinesin Family Member 23 (KIF23), Aurora Kinase A (AURKA), Centromere Protein F (CENPF), Cell Division Cycle 20 (CDC20), Discs Large Associated Protein 5 (DLGAP5), Centrosomal Protein 55 (CEP55), Anillin Actin Binding Protein (ANLN), Non-SMC Condensin I Complex Subunit G (NCAPG), and Kinesin Family Member 14 (KIF14).” | 0.98 | hgnc_dict_v1 |
SGK3 promoter deletion in late-onset hypophosphatemic rickets, a possible genetic cause of the disease.
PMID 41913226 | PMCID PMC13528025 | DOI 10.1186/s13023-026-04335-0 · Orphanet journal of rare diseases · 2026 · 11 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SGK3 | “SGK3 promoter deletion in late-onset hypophosphatemic rickets, a possible genetic cause of the disease.” | 0.98 | hgnc_dict_v1 |
| gene | PHEX | “BACKGROUND: Hypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in the PHEX, FGF23, DMP1, ENPP1, CLCN5, SGK3, SLC9A3R1, SLC34A1 or SLC34A3.” | 0.98 | hgnc_dict_v1 |
| gene | FGF23 | “BACKGROUND: Hypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in the PHEX, FGF23, DMP1, ENPP1, CLCN5, SGK3, SLC9A3R1, SLC34A1 or SLC34A3.” | 0.98 | hgnc_dict_v1 |
| gene | DMP1 | “BACKGROUND: Hypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in the PHEX, FGF23, DMP1, ENPP1, CLCN5, SGK3, SLC9A3R1, SLC34A1 or SLC34A3.” | 0.98 | hgnc_dict_v1 |
The genetic spectrum of achromatopsia in consanguineous families: insights from Whole exome sequencing across 15 affected individuals.
PMID 42099125 | DOI 10.1080/13816810.2026.2651186 · Ophthalmic genetics · 2026 · 11 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CNGA3 | “To date, six genes (CNGA3, CNGB3, GNAT2, PDE6H, PDE6C, and ATF6) are known to be the primary causes of ACHM, affecting the normal function of the cone photoreceptors.” | 0.98 | hgnc_dict_v1 |
| gene | CNGB3 | “To date, six genes (CNGA3, CNGB3, GNAT2, PDE6H, PDE6C, and ATF6) are known to be the primary causes of ACHM, affecting the normal function of the cone photoreceptors.” | 0.98 | hgnc_dict_v1 |
| gene | GNAT2 | “To date, six genes (CNGA3, CNGB3, GNAT2, PDE6H, PDE6C, and ATF6) are known to be the primary causes of ACHM, affecting the normal function of the cone photoreceptors.” | 0.98 | hgnc_dict_v1 |
| gene | PDE6H | “To date, six genes (CNGA3, CNGB3, GNAT2, PDE6H, PDE6C, and ATF6) are known to be the primary causes of ACHM, affecting the normal function of the cone photoreceptors.” | 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 |
Expression and Survival Analysis Show High Mobility Group (HMG) Family as Prognostic Biomarkers in Breast Cancer.
PMID 42310973 | PMCID PMC13280614 | DOI 10.4274/ejbh.galenos.2025.2025-10-10 · European journal of breast health · 2026 · 11 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HMGA1 | “RESULTS: HMGA1 emerged as a central driver in triple-negative breast cancer (TNBC), forming a transcriptional complex with FOXM1 that activated VEGFA-mediated angiogenesis, which correlated withwas associated with poor patient survival.” | 0.98 | hgnc_dict_v1 |
| gene | FOXM1 | “RESULTS: HMGA1 emerged as a central driver in triple-negative breast cancer (TNBC), forming a transcriptional complex with FOXM1 that activated VEGFA-mediated angiogenesis, which correlated withwas associated with poor patient survival.” | 0.98 | hgnc_dict_v1 |
| gene | HMGA2 | “In contrast, HMGA2 overexpression was paradoxically associated with favorable outcomes despite promoting tumor angiogenesis.” | 0.98 | hgnc_dict_v1 |
| gene | HMGB1 | “HMGB1 regulation was linked to genomic instability and metastasis, yet it showed potential protective effects in survival analyses.” | 0.98 | hgnc_dict_v1 |
New Insights into Genetic Polymorphisms Influencing the Therapeutic Efficacy and Toxicity of Rivaroxaban.
PMID 42394189 | DOI 10.1002/jcph.70236 · Journal of clinical pharmacology · 2026 · 11 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CYP3A4 | “CYP3A4 and CYP3A5 polymorphisms greatly impacted the pharmacokinetics of rivaroxaban; CYP2J2 polymorphisms were not greatly associated with the clinical outcome.” | 0.98 | hgnc_dict_v1 |
| gene | CYP3A5 | “CYP3A4 and CYP3A5 polymorphisms greatly impacted the pharmacokinetics of rivaroxaban; CYP2J2 polymorphisms were not greatly associated with the clinical outcome.” | 0.98 | hgnc_dict_v1 |
| gene | CYP2J2 | “CYP3A4 and CYP3A5 polymorphisms greatly impacted the pharmacokinetics of rivaroxaban; CYP2J2 polymorphisms were not greatly associated with the clinical outcome.” | 0.98 | hgnc_dict_v1 |
| gene | ABCB1 | “Genetic polymorphisms in membrane transporters like ABCB1 and ABCG2 could modulate the distribution and absorption of rivaroxaban, leading to inter-individual variation in response.” | 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 |
A comprehensive analysis of the Cullin family reveals that CUL5 and CUL7 promote colorectal cancer progression and serve as prognostic markers.
PMID 42021323 | PMCID PMC13238039 | DOI 10.1186/s41065-026-00677-8 · Hereditas · 2026 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CUL5 | “A comprehensive analysis of the Cullin family reveals that CUL5 and CUL7 promote colorectal cancer progression and serve as prognostic markers.” | 0.98 | hgnc_dict_v1 |
| gene | CUL7 | “A comprehensive analysis of the Cullin family reveals that CUL5 and CUL7 promote colorectal cancer progression and serve as prognostic markers.” | 0.98 | hgnc_dict_v1 |
| gene | CUL1 | “Although Cullin family genes (CUL1, CUL2, CUL3, CUL4A, CUL4B, CUL5, CUL7, and CUL9) have been implicated in tumorigenesis, their roles in CRC are not fully defined.” | 0.98 | hgnc_dict_v1 |
| gene | CUL2 | “Although Cullin family genes (CUL1, CUL2, CUL3, CUL4A, CUL4B, CUL5, CUL7, and CUL9) have been implicated in tumorigenesis, their roles in CRC are not fully defined.” | 0.98 | hgnc_dict_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 |
AQP9 and IFITM1 as drivers of immune infiltration and tumor progression in IBD-associated colorectal cancer: from computational insights to experimental validation.
PMID 40622593 | DOI 10.1007/s00210-025-04362-x · Naunyn-Schmiedeberg's archives of pharmacology · 2026 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | AQP9 | “AQP9 and IFITM1 as drivers of immune infiltration and tumor progression in IBD-associated colorectal cancer: from computational insights to experimental validation.” | 0.98 | hgnc_dict_v1 |
| gene | IFITM1 | “AQP9 and IFITM1 as drivers of immune infiltration and tumor progression in IBD-associated colorectal cancer: from computational insights to experimental validation.” | 0.98 | hgnc_dict_v1 |
| gene | CXCL8 | “XGBoost classification achieved an overall accuracy of 88% (IBD: 71%, controls: 93%), with SHAP analysis pinpointing nine key genes, including AQP9, CXCL8, IFITM1, and ITGA5.” | 0.98 | hgnc_dict_v1 |
| gene | ITGA5 | “XGBoost classification achieved an overall accuracy of 88% (IBD: 71%, controls: 93%), with SHAP analysis pinpointing nine key genes, including AQP9, CXCL8, IFITM1, and ITGA5.” | 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 |
Epigenetic Landscape of Female Infertility: An Integrated Bioinformatics Perspective on DNA Methylation, MicroRNAs, and Gene Regulatory Networks Across PCOS, Endometriosis, and Diminished Ovarian Reserve.
PMID 41751922 | PMCID PMC12940672 | DOI 10.3390/ijms27041785 · International journal of molecular sciences · 2026 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | H19 | “Our findings identified eight dysregulated genes (H19, SULT1A4, HCK, SPI1, CARD16, NFE2, LST1, and KRT8) common to PCOS, DOR, and RIF, which may serve to distinguish PCOS specifically.” | 0.98 | hgnc_dict_v1 |
| gene | SULT1A4 | “Our findings identified eight dysregulated genes (H19, SULT1A4, HCK, SPI1, CARD16, NFE2, LST1, and KRT8) common to PCOS, DOR, and RIF, which may serve to distinguish PCOS specifically.” | 0.98 | hgnc_dict_v1 |
| gene | HCK | “Our findings identified eight dysregulated genes (H19, SULT1A4, HCK, SPI1, CARD16, NFE2, LST1, and KRT8) common to PCOS, DOR, and RIF, which may serve to distinguish PCOS specifically.” | 0.98 | hgnc_dict_v1 |
| gene | SPI1 | “Our findings identified eight dysregulated genes (H19, SULT1A4, HCK, SPI1, CARD16, NFE2, LST1, and KRT8) common to PCOS, DOR, and RIF, which may serve to distinguish PCOS specifically.” | 0.98 | hgnc_dict_v1 |
Azoxystrobin induces progressive testicular damage in dose-dependent manners via disrupting androgen receptor and TGF-β signaling pathway: A biochemical, histological, and hormonal evidence.
PMID 41762912 | DOI 10.1016/j.tice.2026.103412 · Tissue & cell · 2026 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SMAD2 | “AZO intoxication at all the tested doses upregulated the gene expression of TGF-β1, SMAD2, CYP19A1, FKBP5, SMAD3, COL1A1 and TGFBR1 while suppressing the expression of 3β-HSD, AR, SRD5A1, StAR, 17β-HSD, and KLK3.” | 0.98 | hgnc_dict_v1 |
| gene | CYP19A1 | “AZO intoxication at all the tested doses upregulated the gene expression of TGF-β1, SMAD2, CYP19A1, FKBP5, SMAD3, COL1A1 and TGFBR1 while suppressing the expression of 3β-HSD, AR, SRD5A1, StAR, 17β-HSD, and KLK3.” | 0.98 | hgnc_dict_v1 |
| gene | FKBP5 | “AZO intoxication at all the tested doses upregulated the gene expression of TGF-β1, SMAD2, CYP19A1, FKBP5, SMAD3, COL1A1 and TGFBR1 while suppressing the expression of 3β-HSD, AR, SRD5A1, StAR, 17β-HSD, and KLK3.” | 0.98 | hgnc_dict_v1 |
| gene | SMAD3 | “AZO intoxication at all the tested doses upregulated the gene expression of TGF-β1, SMAD2, CYP19A1, FKBP5, SMAD3, COL1A1 and TGFBR1 while suppressing the expression of 3β-HSD, AR, SRD5A1, StAR, 17β-HSD, and KLK3.” | 0.98 | hgnc_dict_v1 |
Uncovering the gene variants in a global cohort of patients with unexplained increased left ventricular wall thickness using next-generation sequencing.
PMID 41998504 | PMCID PMC13231718 | DOI 10.1186/s12872-026-05834-5 · BMC cardiovascular disorders · 2026 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MYBPC3 | “In patients with a positive test (HCM or HCM phenocopies), the most prevalent HCM-related variants were MYBPC3 and MYH7 (36.4% and 34.4% of all positive samples, respectively), whereas TTR (7.1%) and GLA (4.0%) were the most common phenocopy variants.” | 0.98 | hgnc_dict_v1 |
| gene | MYH7 | “In patients with a positive test (HCM or HCM phenocopies), the most prevalent HCM-related variants were MYBPC3 and MYH7 (36.4% and 34.4% of all positive samples, respectively), whereas TTR (7.1%) and GLA (4.0%) were the most common phenocopy variants.” | 0.98 | hgnc_dict_v1 |
| gene | TTR | “In patients with a positive test (HCM or HCM phenocopies), the most prevalent HCM-related variants were MYBPC3 and MYH7 (36.4% and 34.4% of all positive samples, respectively), whereas TTR (7.1%) and GLA (4.0%) were the most common phenocopy variants.” | 0.98 | hgnc_dict_v1 |
| gene | GLA | “In patients with a positive test (HCM or HCM phenocopies), the most prevalent HCM-related variants were MYBPC3 and MYH7 (36.4% and 34.4% of all positive samples, respectively), whereas TTR (7.1%) and GLA (4.0%) were the most common phenocopy variants.” | 0.98 | hgnc_dict_v1 |
FGF12-Related Early-Onset Epileptic Encephalopathies: Therapeutic Response to Sodium Channel Blockers.
PMID 42057324 | DOI 10.1002/ajmg.a.70182 · American journal of medical genetics. Part A · 2026 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | FGF12 | “The fibroblast growth-factor 12 (FGF12) encodes a binding protein for voltage-gated sodium channels.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “Variants in FGF12 have recently been associated with autosomal dominant DEEs characterized by early-onset epilepsy and neurodevelopmental impairment.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | intellectual disability | “Tonic seizures were the most common seizure type, and 79.1% of patients exhibited moderate to severe intellectual disability.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | neurodevelopmental disorder | “Developmental and epileptic encephalopathies (DEEs) comprise a clinically and genetically heterogeneous group of severe neurodevelopmental disorders, frequently caused by pathogenic variants in genes encoding neuronal ion channels or synaptic proteins.” | 0.93 | phenotype_alias_lexicon_v2 |
Differential Expression and Target Gene Analysis of PBMC-Derived microRNAs as Prognostic Biomarkers in Acute Lymphoblastic Leukemia.
PMID 42123456 | PMCID PMC13163416 | DOI 10.3390/ijms27093868 · International journal of molecular sciences · 2026 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PTEN | “Validated targets concentrated on key leukemia-related genes like PTEN, BCL2L11, CDKN1A, CCND1, RB1, E2F1, and TGFBR2.” | 0.98 | hgnc_dict_v1 |
| gene | BCL2L11 | “Validated targets concentrated on key leukemia-related genes like PTEN, BCL2L11, CDKN1A, CCND1, RB1, E2F1, and TGFBR2.” | 0.98 | hgnc_dict_v1 |
| gene | CDKN1A | “Validated targets concentrated on key leukemia-related genes like PTEN, BCL2L11, CDKN1A, CCND1, RB1, E2F1, and TGFBR2.” | 0.98 | hgnc_dict_v1 |
| gene | CCND1 | “Validated targets concentrated on key leukemia-related genes like PTEN, BCL2L11, CDKN1A, CCND1, RB1, E2F1, and TGFBR2.” | 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 |
Transcription Factors in the Pathogenesis of Schizophrenia.
PMID 42195329 | PMCID PMC13209135 | DOI 10.3390/life16050773 · Life (Basel, Switzerland) · 2026 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TCF4 | “Based on functionality, these TFs were categorized into four groups: (1) progenitor cell TFs (TCF4, POU3F2, NKX2.1, EGR3), (2) stem cell TFs (MYC, SOX2, ASCL1, REST, NR2E1), (3) metabolic reprogramming TFs (HIF1, SREBPs, STATs, SOX9, NRF1, NRF2, p53, FOXO, ATF4, NF-κB), and (4) nuclear TFs (AhR, RXR).” | 0.98 | hgnc_dict_v1 |
| gene | POU3F2 | “Based on functionality, these TFs were categorized into four groups: (1) progenitor cell TFs (TCF4, POU3F2, NKX2.1, EGR3), (2) stem cell TFs (MYC, SOX2, ASCL1, REST, NR2E1), (3) metabolic reprogramming TFs (HIF1, SREBPs, STATs, SOX9, NRF1, NRF2, p53, FOXO, ATF4, NF-κB), and (4) nuclear TFs (AhR, RXR).” | 0.98 | hgnc_dict_v1 |
| gene | EGR3 | “Based on functionality, these TFs were categorized into four groups: (1) progenitor cell TFs (TCF4, POU3F2, NKX2.1, EGR3), (2) stem cell TFs (MYC, SOX2, ASCL1, REST, NR2E1), (3) metabolic reprogramming TFs (HIF1, SREBPs, STATs, SOX9, NRF1, NRF2, p53, FOXO, ATF4, NF-κB), and (4) nuclear TFs (AhR, RXR).” | 0.98 | hgnc_dict_v1 |
| gene | SOX2 | “Based on functionality, these TFs were categorized into four groups: (1) progenitor cell TFs (TCF4, POU3F2, NKX2.1, EGR3), (2) stem cell TFs (MYC, SOX2, ASCL1, REST, NR2E1), (3) metabolic reprogramming TFs (HIF1, SREBPs, STATs, SOX9, NRF1, NRF2, p53, FOXO, ATF4, NF-κB), and (4) nuclear TFs (AhR, RXR).” | 0.98 | hgnc_dict_v1 |
Co-Phosphoregulatory Network Underlying Functional Coherence of TLK1 and TLK2 Kinase Paralogs.
PMID 42353285 | PMCID PMC13299901 | DOI 10.3390/ijms27125572 · International journal of molecular sciences · 2026 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TLK1 | “Co-Phosphoregulatory Network Underlying Functional Coherence of TLK1 and TLK2 Kinase Paralogs.” | 0.98 | hgnc_dict_v1 |
| gene | TLK2 | “Co-Phosphoregulatory Network Underlying Functional Coherence of TLK1 and TLK2 Kinase Paralogs.” | 0.98 | hgnc_dict_v1 |
| gene | ABRAXAS1 | “Co-phosphoregulation analyses uncovered distinct networks: TLK1 associates with DNA damage signaling via proteins like ABRAXAS1, PML, and RAD9A, while TLK2 integrates with chromatin remodeling and replication through CHD4, DOT1L, NASP, and RNF20.” | 0.98 | hgnc_dict_v1 |
| gene | RAD9A | “Co-phosphoregulation analyses uncovered distinct networks: TLK1 associates with DNA damage signaling via proteins like ABRAXAS1, PML, and RAD9A, while TLK2 integrates with chromatin remodeling and replication through CHD4, DOT1L, NASP, and RNF20.” | 0.98 | hgnc_dict_v1 |
One Diet Does Not Fit All: A Systematic Review and Meta-Analysis of Gene-Diet Interactions Affecting Blood Lipid Profiles.
PMID 42353595 | PMCID PMC13297643 | DOI 10.3390/cimb48060591 · Current issues in molecular biology · 2026 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CETP | “The most consistent evidence was observed for CETP, APOE, and APOB, particularly in relation to broader macronutrient composition and fat-related exposures, while ABCA1 and APOA5 showed significant but more limited evidence.” | 0.98 | hgnc_dict_v1 |
| gene | APOE | “The most consistent evidence was observed for CETP, APOE, and APOB, particularly in relation to broader macronutrient composition and fat-related exposures, while ABCA1 and APOA5 showed significant but more limited evidence.” | 0.98 | hgnc_dict_v1 |
| gene | APOB | “The most consistent evidence was observed for CETP, APOE, and APOB, particularly in relation to broader macronutrient composition and fat-related exposures, while ABCA1 and APOA5 showed significant but more limited evidence.” | 0.98 | hgnc_dict_v1 |
| gene | ABCA1 | “The most consistent evidence was observed for CETP, APOE, and APOB, particularly in relation to broader macronutrient composition and fat-related exposures, while ABCA1 and APOA5 showed significant but more limited evidence.” | 0.98 | hgnc_dict_v1 |
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.
PMID 42362802 | PMCID PMC13424339 | DOI 10.1038/s41431-026-02158-y · European journal of human genetics : EJHG · 2026 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | FILIP1 | “Further analysis of the data and identification of additional affected individuals through collaboration led to identification of biallelic FILIP1 and FAM177A1 variants as causes of a syndromic arthrogryposis and a neuromuscular disorder respectively.” | 0.98 | hgnc_dict_v1 |
| gene | FAM177A1 | “Further analysis of the data and identification of additional affected individuals through collaboration led to identification of biallelic FILIP1 and FAM177A1 variants as causes of a syndromic arthrogryposis and a neuromuscular disorder respectively.” | 0.98 | hgnc_dict_v1 |
| gene | TFCP2L1 | “We also show that biallelic loss-of-function TFCP2L1 variants cause chronic kidney disease and VPS36 variants cause a severe recessive neurodevelopmental disorder characterised by microcephaly, motor delay, agenesis of the corpus callosum, cerebellar atrophy, seizures, hypotonia, spasticity and early death.” | 0.98 | hgnc_dict_v1 |
| gene | VPS36 | “We also show that biallelic loss-of-function TFCP2L1 variants cause chronic kidney disease and VPS36 variants cause a severe recessive neurodevelopmental disorder characterised by microcephaly, motor delay, agenesis of the corpus callosum, cerebellar atrophy, seizures, hypotonia, spasticity and early death.” | 0.98 | hgnc_dict_v1 |
Computational analysis and validation of UGT1A1/4 missense variants impacting tecovirimat metabolism in monkeypox patients.
PMID 42369683 | PMCID PMC13293890 | DOI 10.3389/fsysb.2026.1821230 · Frontiers in systems biology · 2026 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | UGT1A1 | “Computational analysis and validation of UGT1A1/4 missense variants impacting tecovirimat metabolism in monkeypox patients.” | 0.98 | hgnc_dict_v1 |
| gene | UGT1A4 | “METHODS: This study used a comprehensive in-silico workflow to assess the deleterious effects of 842 missense mutations and 308 SNPs in the non-coding regions of the UGT1A1 gene, alongside 700 missense mutations and 324 SNPs in the non-coding regions of the UGT1A4 gene.” | 0.98 | hgnc_dict_v1 |
| population | Population | “Uridine diphosphate glucuronosyltransferase 1 family A1 and A4 (UGT1A1/4) are crucial enzymes for metabolizing tecovirimat, the first oral antiviral drug approved for treating the monkeypox virus.” | 0.80 | saudi_context_rules_v1 |
| variant | G308R | “Specifically, the UGT1A1 SNPs G308R, P356T and G374S, while in UGT1A4 the SNPs G309R, P357T and G375S, were predicted to be the most harmful missense SNPs.” | 0.82 | literature_variant_regex_v2 |
Long-Chain Fatty Acid Oxidation Disorder Genes: A Comprehensive Genetic Database of LC-FAOD Variants, Genotypes, and Phenotypes.
PMID 42422157 | PMCID PMC13342283 | DOI 10.1155/humu/6864813 · Human mutation · 2026 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ACADVL | “A new locus-specific database for variants in the six genes associated with LC-FAOD was established to collect and disseminate information about disease-associated variants in ACADVL, CPT1A, CPT2, HADHA, HADHB, and SLC25A20.” | 0.98 | hgnc_dict_v1 |
| gene | CPT1A | “A new locus-specific database for variants in the six genes associated with LC-FAOD was established to collect and disseminate information about disease-associated variants in ACADVL, CPT1A, CPT2, HADHA, HADHB, and SLC25A20.” | 0.98 | hgnc_dict_v1 |
| gene | CPT2 | “A new locus-specific database for variants in the six genes associated with LC-FAOD was established to collect and disseminate information about disease-associated variants in ACADVL, CPT1A, CPT2, HADHA, HADHB, and SLC25A20.” | 0.98 | hgnc_dict_v1 |
| gene | HADHA | “A new locus-specific database for variants in the six genes associated with LC-FAOD was established to collect and disseminate information about disease-associated variants in ACADVL, CPT1A, CPT2, HADHA, HADHB, and SLC25A20.” | 0.98 | hgnc_dict_v1 |
Identification and Co-expression Analysis of Differentially Expressed LncRNAs and mRNAs Regulate Intramuscular Fat Deposition in Yaks at Two Developmental Stages.
PMID 39971835 | DOI 10.1007/s10528-025-11046-x · Biochemical genetics · 2026 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | FASN | “DEGs stearoyl-CoA desaturase (SCD), fatty acid synthase (FASN), fatty acid binding protein 4 (FABP4) and fibronectin 1 (FN1) and DELs MSTRG.15795.4 and MSTRG.35028.6 were screened.” | 0.98 | hgnc_dict_v1 |
| gene | FABP4 | “DEGs stearoyl-CoA desaturase (SCD), fatty acid synthase (FASN), fatty acid binding protein 4 (FABP4) and fibronectin 1 (FN1) and DELs MSTRG.15795.4 and MSTRG.35028.6 were screened.” | 0.98 | hgnc_dict_v1 |
| gene | PLAC8 | “Co-expression network of the DELs and related genes, including MSTRG.10268.1-placenta associated 8 (PLAC8), MSTRG.16223.1-galectin 3 (LGALS3), MSTRG.34732.1-glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), MSTRG.11907.11-fibroblast growth factor 1 (FGF1), MSTRG.34342.1-lipase A, lysosomal acid type (LIPA), and MSTRG.1667.2-integrin subunit beta 2 (ITGB2) was constructed.” | 0.98 | hgnc_dict_v1 |
| gene | LGALS3 | “Co-expression network of the DELs and related genes, including MSTRG.10268.1-placenta associated 8 (PLAC8), MSTRG.16223.1-galectin 3 (LGALS3), MSTRG.34732.1-glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), MSTRG.11907.11-fibroblast growth factor 1 (FGF1), MSTRG.34342.1-lipase A, lysosomal acid type (LIPA), and MSTRG.1667.2-integrin subunit beta 2 (ITGB2) was constructed.” | 0.98 | hgnc_dict_v1 |
Highly Drug-Resistant Escherichia coli from Hospital Wastewater with Several Evolutionary Mutations: An Integrated Insights from Molecular, Computational, and Biophysics.
PMID 40091143 | DOI 10.1007/s12033-025-01410-y · Molecular biotechnology · 2026 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | T10P | “Following PCR, the resulting products underwent next-generation sequencing. marA exhibited T10P and D101H mutations, while MarR showed substitutions at M1G, V142S, L143P, and P144C positions.” | 0.82 | literature_variant_regex_v2 |
| variant | D101H | “Following PCR, the resulting products underwent next-generation sequencing. marA exhibited T10P and D101H mutations, while MarR showed substitutions at M1G, V142S, L143P, and P144C positions.” | 0.82 | literature_variant_regex_v2 |
| variant | V142S | “Following PCR, the resulting products underwent next-generation sequencing. marA exhibited T10P and D101H mutations, while MarR showed substitutions at M1G, V142S, L143P, and P144C positions.” | 0.82 | literature_variant_regex_v2 |
| variant | L143P | “Following PCR, the resulting products underwent next-generation sequencing. marA exhibited T10P and D101H mutations, while MarR showed substitutions at M1G, V142S, L143P, and P144C positions.” | 0.82 | literature_variant_regex_v2 |
Pathogenic DDX39A Variant Disrupts Nuclear Homeostasis and Causes an Early-Onset Neurodegenerative Disorder With Cerebral Atrophy.
PMID 40726340 | DOI 10.1111/cge.70033 · Clinical genetics · 2026 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | DDX39A | “Pathogenic DDX39A Variant Disrupts Nuclear Homeostasis and Causes an Early-Onset Neurodegenerative Disorder With Cerebral Atrophy.” | 0.98 | hgnc_dict_v1 |
| gene | THOC1 | “Functional studies in proband-derived fibroblasts revealed that while transcript and protein levels of DDX39A-K137Q were unaffected, the mutant protein displayed aberrant nuclear clumping and failed to interact with the TREX component THOC1.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “Here, we identify that variant (c.485A>C; p.Lys137Gln) in DDX39A in a 7-month-old proband presenting with global developmental delay, microcephaly, seizures, hypotonia, and brain atrophy with corpus callosum thinning.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | neurodevelopmental disorder | “Neurodevelopmental disorders arising from mutations in RNA-processing factors are increasingly recognized but remain mechanistically underexplored.” | 0.93 | phenotype_alias_lexicon_v2 |
Clinical utility of chromosomal microarray and whole exome sequencing in evaluating genetic causes for pregnancy loss using products of conception specimens.
PMID 41331780 | DOI 10.1515/jpm-2025-0240 · Journal of perinatal medicine · 2026 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | KCNQ1 | “WES detected pathogenic or likely pathogenic mutations in 21 genes (e.g., KCNQ1, KCNE1, COL1A2, ROBO1) in 18 cases, adding a 10.46 % diagnostic yield.” | 0.98 | hgnc_dict_v1 |
| gene | KCNE1 | “WES detected pathogenic or likely pathogenic mutations in 21 genes (e.g., KCNQ1, KCNE1, COL1A2, ROBO1) in 18 cases, adding a 10.46 % diagnostic yield.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A2 | “WES detected pathogenic or likely pathogenic mutations in 21 genes (e.g., KCNQ1, KCNE1, COL1A2, ROBO1) in 18 cases, adding a 10.46 % diagnostic yield.” | 0.98 | hgnc_dict_v1 |
| gene | ROBO1 | “WES detected pathogenic or likely pathogenic mutations in 21 genes (e.g., KCNQ1, KCNE1, COL1A2, ROBO1) in 18 cases, adding a 10.46 % diagnostic yield.” | 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 |
Characterisation of Naturally Occurring MERS-CoV Spike Mutations and Their Impact on Fusion and Neutralisation.
PMID 41902285 | PMCID PMC13030573 | DOI 10.3390/v18030377 · Viruses · 2026 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | MERS | “Characterisation of Naturally Occurring MERS-CoV Spike Mutations and Their Impact on Fusion and Neutralisation.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | I529T | “The I529T, E536K and L745F mutations were shown to increase fusion and syncytia formation.” | 0.82 | literature_variant_regex_v2 |
| variant | E536K | “The I529T, E536K and L745F mutations were shown to increase fusion and syncytia formation.” | 0.82 | literature_variant_regex_v2 |
| variant | L745F | “The I529T, E536K and L745F mutations were shown to increase fusion and syncytia formation.” | 0.82 | literature_variant_regex_v2 |
Exploring the Association of Genetic Determinants of SIRT1, MTHFR, and MIR146A Gene Polymorphism with the Ischemic Stroke Predisposition: A Case Control Study.
PMID 41957297 | PMCID PMC13172177 | DOI 10.1007/s10571-026-01688-9 · Cellular and molecular neurobiology · 2026 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SIRT1 | “Exploring the Association of Genetic Determinants of SIRT1, MTHFR, and MIR146A Gene Polymorphism with the Ischemic Stroke Predisposition: A Case Control Study.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Exploring the Association of Genetic Determinants of SIRT1, MTHFR, and MIR146A Gene Polymorphism with the Ischemic Stroke Predisposition: A Case Control Study.” | 0.98 | hgnc_dict_v1 |
| gene | MIR146A | “Exploring the Association of Genetic Determinants of SIRT1, MTHFR, and MIR146A Gene Polymorphism with the Ischemic Stroke Predisposition: A Case Control Study.” | 0.98 | hgnc_dict_v1 |
| phenotype | stroke | “Exploring the Association of Genetic Determinants of SIRT1, MTHFR, and MIR146A Gene Polymorphism with the Ischemic Stroke Predisposition: A Case Control Study.” | 0.98 | phenotype_alias_lexicon_v2 |
Erdheim-Chester Disease: A Rare Presentation With Atrial Flutter and Severe Sinus Node Dysfunction.
PMID 41964632 | PMCID PMC13184843 | DOI 10.1016/j.jaccas.2026.107747 · JACC. Case reports · 2026 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CD68 | “Histopathologic examination confirmed CD68+/CD163+ histiocytes harboring BRAF V600E/D and NRAS mutations.” | 0.98 | hgnc_dict_v1 |
| gene | CD163 | “Histopathologic examination confirmed CD68+/CD163+ histiocytes harboring BRAF V600E/D and NRAS mutations.” | 0.98 | hgnc_dict_v1 |
| gene | BRAF | “Histopathologic examination confirmed CD68+/CD163+ histiocytes harboring BRAF V600E/D and NRAS mutations.” | 0.98 | hgnc_dict_v1 |
| gene | NRAS | “Histopathologic examination confirmed CD68+/CD163+ histiocytes harboring BRAF V600E/D and NRAS mutations.” | 0.98 | hgnc_dict_v1 |
Lactate treatment improves brain biochemistry and cognitive function in transgenic Alzheimer's and wild-type mice.
PMID 41981183 | PMCID PMC13260460 | DOI 10.1038/s41598-026-48154-6 · Scientific reports · 2026 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NEFL | “At the molecular level, lactate reduced Il1b expression, and in a sex-dependent manner, normalised NEFL, and enhanced synaptic integrity proteins (OPCML, PPFIA2, STXBP3, SYT1, VGLUT2, VSNL1) in AD mice, while also augmenting mitochondrial regulators (ATP5G2, GRPEL1, SLC25A23) across genotypes.” | 0.98 | hgnc_dict_v1 |
| gene | OPCML | “At the molecular level, lactate reduced Il1b expression, and in a sex-dependent manner, normalised NEFL, and enhanced synaptic integrity proteins (OPCML, PPFIA2, STXBP3, SYT1, VGLUT2, VSNL1) in AD mice, while also augmenting mitochondrial regulators (ATP5G2, GRPEL1, SLC25A23) across genotypes.” | 0.98 | hgnc_dict_v1 |
| gene | PPFIA2 | “At the molecular level, lactate reduced Il1b expression, and in a sex-dependent manner, normalised NEFL, and enhanced synaptic integrity proteins (OPCML, PPFIA2, STXBP3, SYT1, VGLUT2, VSNL1) in AD mice, while also augmenting mitochondrial regulators (ATP5G2, GRPEL1, SLC25A23) across genotypes.” | 0.98 | hgnc_dict_v1 |
| gene | STXBP3 | “At the molecular level, lactate reduced Il1b expression, and in a sex-dependent manner, normalised NEFL, and enhanced synaptic integrity proteins (OPCML, PPFIA2, STXBP3, SYT1, VGLUT2, VSNL1) in AD mice, while also augmenting mitochondrial regulators (ATP5G2, GRPEL1, SLC25A23) across genotypes.” | 0.98 | hgnc_dict_v1 |