Advanced search
Combine gene, variant, phenotype, region and year filters
Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
Knowledge-base search
About your search
TBK1 and amyotrophic lateral sclerosis are reported together in 2 articles.
Gene
TBK1
- HGNC
- HGNC:11584
9articles
9mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Amyotrophic lateral sclerosis
105articles
105mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
2 records shown · first 60Exploring TANK-Binding Kinase 1 in Amyotrophic Lateral Sclerosis: From Structural Mechanisms to Machine Learning-Guided Therapeutics.
PMID 41302089 | PMCID PMC12653980 | DOI 10.3390/life15111665 · Life (Basel, Switzerland) · 2025 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TBK1 | “TANK-binding kinase 1 (TBK1) has emerged as one of the most compelling genetic contributors to amyotrophic lateral sclerosis (ALS), with heterozygous loss-of-function and pathogenic missense variants identified in patients across the ALS-frontotemporal dementia (FTD) spectrum.” | 0.98 | hgnc_dict_v1 |
| phenotype | amyotrophic lateral sclerosis | “Exploring TANK-Binding Kinase 1 in Amyotrophic Lateral Sclerosis: From Structural Mechanisms to Machine Learning-Guided Therapeutics.” | 0.98 | phenotype_alias_lexicon_v2 |
Frustration analysis of TBK1 missense mutations reported in ALS/FTD and cancer patients.
PMID 35845111 | PMCID PMC9283588 | DOI 10.1007/s13205-022-03240-0 · 3 Biotech · 2022 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TBK1 | “Frustration analysis of TBK1 missense mutations reported in ALS/FTD and cancer patients.” | 0.98 | hgnc_dict_v1 |
| phenotype | amyotrophic lateral sclerosis | “Frustration analysis of TBK1 missense mutations reported in ALS/FTD and cancer patients.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | OPTN | “Some of these missense mutations disrupt the abilities of TBK1 to dimerize, associate with the mitophagy receptor optineurin (OPTN), autoactivate, or catalyze phosphorylation.” | 0.98 | hgnc_dict_v1 |