Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG 		0.710 CausalMutation disease CLINVAR
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG 		0.710 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1144
Gene Symbol: CHRND
CHRND 		0.700 Biomarker disease CTD_human
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1 		0.700 Biomarker disease CTD_human
Entrez Id: 1144
Gene Symbol: CHRND
CHRND 		0.700 GeneticVariation disease CLINVAR
Entrez Id: 1144
Gene Symbol: CHRND
CHRND 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN 		0.300 GeneticVariation disease ORPHANET
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1 		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
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1 		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
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1 		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
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG 		0.710 GeneticVariation disease UNIPROT Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. 16826520 2006
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG 		0.710 Biomarker disease GENOMICS_ENGLAND Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. 16826520 2006
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG 		0.710 Biomarker disease CTD_human Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. 16826520 2006
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG 		0.710 GermlineCausalMutation disease ORPHANET Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. 16826531 2006
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG 		0.710 Biomarker disease CTD_human Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. 16826531 2006
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG 		0.710 GeneticVariation disease UNIPROT Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. 16826531 2006
Entrez Id: 1144
Gene Symbol: CHRND
CHRND 		0.700 Biomarker disease GENOMICS_ENGLAND CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. 16916845 2006
Entrez Id: 1144
Gene Symbol: CHRND
CHRND 		0.700 CausalMutation disease CLINVAR Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. 18252226 2008
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1 		0.700 GermlineCausalMutation disease ORPHANET Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. 18252226 2008
Entrez Id: 1144
Gene Symbol: CHRND
CHRND 		0.700 GeneticVariation disease UNIPROT Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. 18252226 2008
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1 		0.700 GeneticVariation disease UNIPROT Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. 18252226 2008
Entrez Id: 1144
Gene Symbol: CHRND
CHRND 		0.700 GermlineCausalMutation disease ORPHANET Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. 18252226 2008
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.010 GeneticVariation disease BEFREE While TPM2 mutations identified so far in muscular diseases were all associated with a dominant inheritance pattern, we report the identification of a homozygous null allele mutation in the TPM2 gene in a patient who presented with a recessive form of nemaline myopathy associated with a non-lethal multiple pterygium syndrome (Escobar-MPS MIM# 265000). 19155175 2009
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG 		0.710 GeneticVariation disease BEFREE The mutation spectrum was similar in EVMPS and LMPS/FADS kindreds and EVMPS and LMPS phenotypes were observed in different families with the same CHRNG mutation. 22167768 2012