Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 Biomarker GENOMICS_ENGLAND Clinical Reasoning: A child with arthrogryposis: Congenital myasthenic syndrome-CHRNA1 mutation. 30177536

2018
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 CausalMutation CLINVAR Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation. 27748205

2017
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 CausalMutation CLINVAR HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA. 24121633

2013
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 GermlineCausalMutation ORPHANET Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. 18252226

2008
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 GeneticVariation UNIPROT Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. 18252226

2008
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 CausalMutation 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
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 CausalMutation CLINVAR Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. 7619526

1995
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 CausalMutation CLINVAR A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel. 6287911

1982
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 Biomarker CTD_human

Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 Biomarker GENOMICS_ENGLAND