Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9217
Gene Symbol: VAPB
VAPB 		0.730 Biomarker disease BEFREE We aimed to compare the cognitive profile of patients with ALS8 and healthy controls (HC), and to screen for behavioural features in ALS8 patients. 31089860 2019
Entrez Id: 9217
Gene Symbol: VAPB
VAPB 		0.730 CausalMutation disease CLINVAR Atypical familial amyotrophic lateral sclerosis with initial symptoms of pain or tremor in a Chinese family harboring VAPB-P56S mutation. 26566915 2016
Entrez Id: 9217
Gene Symbol: VAPB
VAPB 		0.730 GeneticVariation disease BEFREE Its mutant form, P56S-VAPB, which has been linked to a dominantly inherited form of Amyotrophic Lateral Sclerosis (ALS8), generates intracellular inclusions consisting in restructured ER domains whose role in ALS pathogenesis has not been elucidated. 25409455 2014
Entrez Id: 9217
Gene Symbol: VAPB
VAPB 		0.730 CausalMutation disease CLINVAR Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil. 24212516 2013
Entrez Id: 9217
Gene Symbol: VAPB
VAPB 		0.730 CausalMutation disease CLINVAR Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons. 23771029 2013
Entrez Id: 9217
Gene Symbol: VAPB
VAPB 		0.730 CausalMutation disease CLINVAR Amyotrophic lateral sclerosis-associated mutant VAPBP56S perturbs calcium homeostasis to disrupt axonal transport of mitochondria. 22258555 2012
Entrez Id: 9217
Gene Symbol: VAPB
VAPB 		0.730 CausalMutation disease CLINVAR A mutation in VAPB that causes amyotrophic lateral sclerosis also causes a nuclear envelope defect. 22454507 2012
Entrez Id: 9217
Gene Symbol: VAPB
VAPB 		0.730 GeneticVariation disease UNIPROT VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis. 22131369 2012
Entrez Id: 9217
Gene Symbol: VAPB
VAPB 		0.730 CausalMutation disease CLINVAR Amyotrophic lateral sclerosis-linked mutant VAPB enhances TDP-43-induced motor neuronal toxicity. 21933185 2011
Entrez Id: 9217
Gene Symbol: VAPB
VAPB 		0.730 CausalMutation disease CLINVAR The ALS8-associated mutant VAPB(P56S) is resistant to proteolysis in neurons. 21275991 2011
Entrez Id: 9217
Gene Symbol: VAPB
VAPB 		0.730 CausalMutation disease CLINVAR Elimination of the native structure and solubility of the hVAPB MSP domain by the Pro56Ser mutation that causes amyotrophic lateral sclerosis. 20377183 2010
Entrez Id: 9217
Gene Symbol: VAPB
VAPB 		0.730 GeneticVariation disease UNIPROT Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis. 20940299 2010
Entrez Id: 9217
Gene Symbol: VAPB
VAPB 		0.730 GeneticVariation disease BEFREE The P56S missense mutation of the VAPB protein is linked to a hereditary form of amyotrophic lateral sclerosis (ALS8), and the pathogenesis of ALS8 has remained enigmatic. 20227395 2010
Entrez Id: 9217
Gene Symbol: VAPB
VAPB 		0.730 CausalMutation disease CLINVAR Motor neuron disease-associated mutant vesicle-associated membrane protein-associated protein (VAP) B recruits wild-type VAPs into endoplasmic reticulum-derived tubular aggregates. 17804640 2007
Entrez Id: 9217
Gene Symbol: VAPB
VAPB 		0.730 CausalMutation disease CLINVAR Expanding the phenotypes of the Pro56Ser VAPB mutation: proximal SMA with dysautonomia. 16967488 2006
Entrez Id: 9217
Gene Symbol: VAPB
VAPB 		0.730 GeneticVariation disease UNIPROT Characterization of amyotrophic lateral sclerosis-linked P56S mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8). 16891305 2006
Entrez Id: 9217
Gene Symbol: VAPB
VAPB 		0.730 Biomarker disease GENOMICS_ENGLAND A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. 15372378 2004
Entrez Id: 9217
Gene Symbol: VAPB
VAPB 		0.730 GeneticVariation disease UNIPROT A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. 15372378 2004
Entrez Id: 9217
Gene Symbol: VAPB
VAPB 		0.730 CausalMutation disease CLINVAR A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. 15372378 2004
Entrez Id: 9217
Gene Symbol: VAPB
VAPB 		0.730 Biomarker disease CTD_human
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		0.010 GeneticVariation disease BEFREE Its mutant form, P56S-VAPB, which has been linked to a dominantly inherited form of Amyotrophic Lateral Sclerosis (ALS8), generates intracellular inclusions consisting in restructured ER domains whose role in ALS pathogenesis has not been elucidated. 25409455 2014
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS 		0.010 GeneticVariation disease BEFREE Its mutant form, P56S-VAPB, which has been linked to a dominantly inherited form of Amyotrophic Lateral Sclerosis (ALS8), generates intracellular inclusions consisting in restructured ER domains whose role in ALS pathogenesis has not been elucidated. 25409455 2014
Entrez Id: 5007
Gene Symbol: OSBP
OSBP 		0.010 Biomarker disease BEFREE Hence, we propose that the ALS8 mutation impairs the interaction of Vap with Osbp, resulting in hypomorphic defects that might contribute to the pathology of ALS8. 24271015 2014