Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 Biomarker disease GENOMICS_ENGLAND Clinical Reasoning: A child with arthrogryposis: Congenital myasthenic syndrome-CHRNA1 mutation. 30177536 2018
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 CausalMutation disease CLINVAR Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation. 27748205 2017
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 CausalMutation disease CLINVAR HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA. 24121633 2013
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 GermlineCausalMutation disease ORPHANET Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. 18252226 2008
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 GeneticVariation disease UNIPROT Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. 18252226 2008
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 CausalMutation disease CLINVAR Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. 9158151 1997
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 CausalMutation disease CLINVAR Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. 7619526 1995
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 CausalMutation disease CLINVAR A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel. 6287911 1982
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 Biomarker disease CTD_human
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4084823
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		0.600 GeneticVariation disease UNIPROT Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown. 16685696 2006
CUI: C4084823
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		0.600 Biomarker disease GENOMICS_ENGLAND Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome. 15079006 2004
CUI: C4225405
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL 		0.600 GeneticVariation disease UNIPROT Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome. 15079006 2004
CUI: C4225405
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL 		0.600 Biomarker disease GENOMICS_ENGLAND Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome. 15079006 2004
CUI: C4225405
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL 		0.600 GeneticVariation disease UNIPROT Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating. 12588888 2003
CUI: C4225405
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL 		0.600 GeneticVariation disease UNIPROT Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating. 10195214 1999
CUI: C4084823
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		0.600 GeneticVariation disease UNIPROT Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. 9158151 1997
CUI: C4084823
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		0.600 GeneticVariation disease UNIPROT Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit. 9221765 1997
CUI: C4084823
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		0.600 GeneticVariation disease UNIPROT New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. 8872460 1996
CUI: C4084823
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		0.600 GeneticVariation disease UNIPROT Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. 7619526 1995
CUI: C4084823
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 		0.600 CausalMutation disease CLINVAR
CUI: C4225405
Disease: MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL 		0.600 CausalMutation disease CLINVAR
CUI: C0016059
Disease: Fibrosis
Fibrosis 		0.300 Biomarker phenotype CTD_human A novel signaling pathway: fibroblast nicotinic receptor alpha1 binds urokinase and promotes renal fibrosis. 19690163 2009
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		0.300 Biomarker disease CTD_human A novel signaling pathway: fibroblast nicotinic receptor alpha1 binds urokinase and promotes renal fibrosis. 19690163 2009