Gene: OPTN ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10133
Gene Symbol: OPTN
OPTN 		0.140 GeneticVariation disease BEFREE Certain mutations in OPTN (gene <i>OPTN</i>) are associated with primary open angle glaucoma, a leading cause of irreversible blindness, and amyotrophic lateral sclerosis, a fatal motor neuron disease. 29951055 2018
Entrez Id: 10133
Gene Symbol: OPTN
OPTN 		0.140 GeneticVariation disease CLINVAR Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. 28089114 2017
Entrez Id: 10133
Gene Symbol: OPTN
OPTN 		0.140 CausalMutation disease CLINVAR Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. 28089114 2017
Entrez Id: 10133
Gene Symbol: OPTN
OPTN 		0.140 GeneticVariation disease BEFREE A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations. 26203661 2015
Entrez Id: 10133
Gene Symbol: OPTN
OPTN 		0.140 GeneticVariation disease BEFREE Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. 25943890 2015
Entrez Id: 10133
Gene Symbol: OPTN
OPTN 		0.140 Biomarker disease BEFREE The study further supports the possible pathological role of optineurin protein in motor neuron disease. 21613650 2011