NEB, nebulin, 4703

N. diseases: 148; N. variants: 280
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10182296
rs10182296
Entrez Id: 4703;55183
Gene Symbol: NEB;RIF1
NEB;RIF1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10186482
rs10186482
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0017654
Disease:
Glomerular Filtration Rate 		A 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
dbSNP: rs10432479
rs10432479
Entrez Id: 4703;55183
Gene Symbol: NEB;RIF1
NEB;RIF1
CUI: C0017654
Disease:
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs4664475
rs4664475
Entrez Id: 4703;55183
Gene Symbol: NEB;RIF1
NEB;RIF1
CUI: C0017654
Disease:
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs13013209
rs13013209
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0201973
Disease:
Creatine kinase measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs10174077
rs10174077
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0149782
Disease:
Squamous cell carcinoma of lung 		T 0.700 GeneticVariation GWASCAT Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. 28604730 2017
dbSNP: rs1197561990
rs1197561990
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. 27933661 2017
dbSNP: rs1197561990
rs1197561990
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. 27933661 2017
dbSNP: rs200449517
rs200449517
Entrez Id: 4703;55183
Gene Symbol: NEB;RIF1
NEB;RIF1
CUI: C1850569
Disease:
Nemaline Myopathy 2 		G 0.700 GeneticVariation CLINVAR Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. 28132693 2017
dbSNP: rs201553266
rs201553266
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. 27933661 2017
dbSNP: rs201553266
rs201553266
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. 27933661 2017
dbSNP: rs375145370
rs375145370
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease:
Nemaline Myopathy 2 		C 0.700 GeneticVariation CLINVAR Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. 27933661 2017
dbSNP: rs755531536
rs755531536
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. 27933661 2017
dbSNP: rs755531536
rs755531536
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. 27933661 2017
dbSNP: rs1421095081
rs1421095081
Entrez Id: 4703;55183
Gene Symbol: NEB;RIF1
NEB;RIF1
CUI: C1850569
Disease:
Nemaline Myopathy 2 		T 0.700 GeneticVariation CLINVAR Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders. 27357428 2016
dbSNP: rs1458048713
rs1458048713
Entrez Id: 4703;55183
Gene Symbol: NEB;RIF1
NEB;RIF1
CUI: C1850569
Disease:
Nemaline Myopathy 2 		T 0.700 CausalMutation CLINVAR One in seven colorectal cancer patients is under 50, US study shows. 26809612 2016
dbSNP: rs1458048713
rs1458048713
Entrez Id: 4703;55183
Gene Symbol: NEB;RIF1
NEB;RIF1
CUI: C0206157
Disease:
Myopathies, Nemaline 		T 0.700 GeneticVariation CLINVAR Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. 26809617 2016
dbSNP: rs191579691
rs191579691
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease:
Nemaline Myopathy 2 		A 0.700 CausalMutation CLINVAR A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. 26197980 2016
dbSNP: rs191579691
rs191579691
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease:
Myopathies, Nemaline 		A 0.700 CausalMutation CLINVAR A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. 26197980 2016
dbSNP: rs201553266
rs201553266
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease:
Nemaline Myopathy 2 		T 0.700 GeneticVariation CLINVAR New massive parallel sequencing approach improves the genetic characterization of congenital myopathies. 26841830 2016
dbSNP: rs201553266
rs201553266
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C0206157
Disease:
Myopathies, Nemaline 		T 0.700 CausalMutation CLINVAR New massive parallel sequencing approach improves the genetic characterization of congenital myopathies. 26841830 2016
dbSNP: rs747564597
rs747564597
Entrez Id: 4703;55183
Gene Symbol: NEB;RIF1
NEB;RIF1
CUI: C1850569
Disease:
Nemaline Myopathy 2 		C 0.700 CausalMutation CLINVAR A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. 26197980 2016
dbSNP: rs763364977
rs763364977
Entrez Id: 4703;55183
Gene Symbol: NEB;RIF1
NEB;RIF1
CUI: C1850569
Disease:
Nemaline Myopathy 2 		A 0.700 CausalMutation CLINVAR New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. 27105866 2016
dbSNP: rs763364977
rs763364977
Entrez Id: 4703;55183
Gene Symbol: NEB;RIF1
NEB;RIF1
CUI: C1850569
Disease:
Nemaline Myopathy 2 		A 0.700 GeneticVariation CLINVAR New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. 27105866 2016
dbSNP: rs769345284
rs769345284
Entrez Id: 4703
Gene Symbol: NEB
NEB
CUI: C1850569
Disease:
Nemaline Myopathy 2 		A 0.700 CausalMutation CLINVAR New massive parallel sequencing approach improves the genetic characterization of congenital myopathies. 26841830 2016