Gene: CHRNE ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1145
Gene Symbol: CHRNE
CHRNE 		0.600 GeneticVariation disease UNIPROT Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site. 22592360 2012
Entrez Id: 1145
Gene Symbol: CHRNE
CHRNE 		0.600 Biomarker disease GENOMICS_ENGLAND Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE. 21175599 2011
Entrez Id: 1145
Gene Symbol: CHRNE
CHRNE 		0.600 GeneticVariation disease UNIPROT Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome. 10962020 2000
Entrez Id: 1145
Gene Symbol: CHRNE
CHRNE 		0.600 GeneticVariation disease UNIPROT Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. 8755487 1996
Entrez Id: 1145
Gene Symbol: CHRNE
CHRNE 		0.600 CausalMutation disease CLINVAR