VAPB, VAMP associated protein B and C, 9217

N. diseases: 55; N. variants: 3
Disease: Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1866777
Disease: Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant 		0.600 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
CUI: C1866777
Disease: Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant 		0.600 CausalMutation disease CLINVAR Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons. 23771029 2013
CUI: C1866777
Disease: Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant 		0.600 CausalMutation disease CLINVAR Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil. 24212516 2013
CUI: C1866777
Disease: Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant 		0.600 GermlineCausalMutation disease ORPHANET Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil. 24212516 2013
CUI: C1866777
Disease: Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant 		0.600 CausalMutation disease CLINVAR Amyotrophic lateral sclerosis-associated mutant VAPBP56S perturbs calcium homeostasis to disrupt axonal transport of mitochondria. 22258555 2012
CUI: C1866777
Disease: Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant 		0.600 CausalMutation disease CLINVAR A mutation in VAPB that causes amyotrophic lateral sclerosis also causes a nuclear envelope defect. 22454507 2012
CUI: C1866777
Disease: Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant 		0.600 CausalMutation disease CLINVAR Amyotrophic lateral sclerosis-linked mutant VAPB enhances TDP-43-induced motor neuronal toxicity. 21933185 2011
CUI: C1866777
Disease: Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant 		0.600 CausalMutation disease CLINVAR The ALS8-associated mutant VAPB(P56S) is resistant to proteolysis in neurons. 21275991 2011
CUI: C1866777
Disease: Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant 		0.600 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
CUI: C1866777
Disease: Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant 		0.600 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
CUI: C1866777
Disease: Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant 		0.600 CausalMutation disease CLINVAR Expanding the phenotypes of the Pro56Ser VAPB mutation: proximal SMA with dysautonomia. 16967488 2006
CUI: C1866777
Disease: Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant 		0.600 CausalMutation disease CLINVAR A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. 15372378 2004
CUI: C1866777
Disease: Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant 		0.600 GermlineCausalMutation disease ORPHANET A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. 15372378 2004
CUI: C1866777
Disease: Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant 		0.600 Biomarker disease CTD_human