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OPTN and amyotrophic lateral sclerosis are reported together in 3 articles.

Gene

OPTN

9articles

9mentions

0variants with confirmed gene link

Most co-reported phenotypes (articles)

Phenotype

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.

3 records shown · first 60

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	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
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

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	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
phenotype	amyotrophic lateral sclerosis	“Frustration analysis of TBK1 missense mutations reported in ALS/FTD and cancer patients.”	0.93	phenotype_alias_lexicon_v2
gene	TBK1	“Frustration analysis of TBK1 missense mutations reported in ALS/FTD and cancer patients.”	0.98	hgnc_dict_v1

PMID 34272080 | DOI 10.1016/j.neurobiolaging.2021.05.009 · Neurobiology of aging · 2021 · 5 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	OPTN	“The molecular mechanisms underlying the variable inheritance pattern associated with OPTN mutations have remained elusive.”	0.98	hgnc_dict_v1
phenotype	amyotrophic lateral sclerosis	“A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay.”	0.98	phenotype_alias_lexicon_v2
population	Population	“We identified that affected members of a consanguineous Middle Eastern ALS kindred possessed a novel homozygous p.S174X OPTN mutation.”	0.80	saudi_context_rules_v1
variant	p.S174X	“We identified that affected members of a consanguineous Middle Eastern ALS kindred possessed a novel homozygous p.S174X OPTN mutation.”	0.95	hgvs_regex_v1