Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 GeneticVariation CLINVAR Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. 28132693

2017
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 GeneticVariation CLINVAR Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. 27933661

2017
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation CLINVAR One in seven colorectal cancer patients is under 50, US study shows. 26809612

2016
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation CLINVAR New massive parallel sequencing approach improves the genetic characterization of congenital myopathies. 26841830

2016
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation CLINVAR New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. 27105866

2016
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 GeneticVariation CLINVAR Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders. 27357428

2016
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 GeneticVariation CLINVAR New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. 27105866

2016
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation CLINVAR Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. 26809617

2016
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 GeneticVariation CLINVAR New massive parallel sequencing approach improves the genetic characterization of congenital myopathies. 26841830

2016
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation CLINVAR A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. 26197980

2016
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218

2016
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation CLINVAR Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth. 26578207

2015
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation CLINVAR "Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related ""core-rod"" congenital myopathy." 26403434

2015
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 GeneticVariation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970

2015
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation CLINVAR Potential toxicity of pesticides in freshwater environments: passive sampling, exposure and impacts on biofilms: the PoToMAC project. 25205148

2015
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation CLINVAR Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene. 24056153

2015
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 GeneticVariation CLINVAR Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth. 26578207

2015
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 GeneticVariation CLINVAR "Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related ""core-rod"" congenital myopathy." 26403434

2015
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 GeneticVariation CLINVAR Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype. 24725366

2014
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138

2014
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation CLINVAR Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations. 25110572

2014
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 GeneticVariation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138

2014
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		0.920 CausalMutation CLINVAR Congenital myopathy with cap-like structures and nemaline rods: case report and literature review. 25079567

2014