Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1145
Gene Symbol: CHRNE
CHRNE 		0.900 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 		0.900 CausalMutation disease CLINVAR Splicing abnormalities in congenital myasthenic syndromes. 16550914 2005
Entrez Id: 1145
Gene Symbol: CHRNE
CHRNE 		0.900 CausalMutation disease CLINVAR Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome. 10514102 1999
Entrez Id: 1145
Gene Symbol: CHRNE
CHRNE 		0.900 CausalMutation disease CLINVAR A single nucleotide deletion in the epsilon subunit of the acetylcholine receptor (AChR) in five congenital myasthenic syndrome patients with AChR deficiency. 9668239 1998
Entrez Id: 1145
Gene Symbol: CHRNE
CHRNE 		0.900 GeneticVariation disease UNIPROT Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. 9158150 1997
Entrez Id: 1145
Gene Symbol: CHRNE
CHRNE 		0.900 Biomarker disease MGD Acetylcholine receptor epsilon-subunit deletion causes muscle weakness and atrophy in juvenile and adult mice. 8917583 1996
Entrez Id: 1145
Gene Symbol: CHRNE
CHRNE 		0.900 Biomarker disease CTD_human
Entrez Id: 1145
Gene Symbol: CHRNE
CHRNE 		0.900 GeneticVariation disease CLINVAR
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.400 CausalMutation disease CLINVAR Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients. 21305573 2011
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.400 CausalMutation disease CLINVAR Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes. 20157724 2010
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.400 CausalMutation disease CLINVAR Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. 19620612 2009
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.400 Biomarker disease GENOMICS_ENGLAND Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. 18179903 2008
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.400 CausalMutation disease CLINVAR Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations. 16945936 2006
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.400 CausalMutation disease CLINVAR Unusual features in a boy with the rapsyn N88K mutation. 17190963 2006
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.400 CausalMutation disease CLINVAR A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome. 15482960 2004
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.400 CausalMutation disease CLINVAR Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation. 14659409 2004
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.400 CausalMutation disease CLINVAR Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. 15036330 2004
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.400 CausalMutation disease CLINVAR Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. 15328566 2004
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.400 CausalMutation disease CLINVAR Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes. 12807980 2003
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.400 CausalMutation disease CLINVAR Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. 12796535 2003
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.400 CausalMutation disease CLINVAR Identification of pathogenic mutations in the human rapsyn gene. 12730725 2003
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.400 CausalMutation disease CLINVAR Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. 11791205 2002
Entrez Id: 2673
Gene Symbol: GFPT1
GFPT1 		0.300 Biomarker disease CTD_human
Entrez Id: 4593
Gene Symbol: MUSK
MUSK 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 100130311
Gene Symbol: C17orf107
C17orf107 		0.100 GeneticVariation disease CLINVAR