Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1144
Gene Symbol: CHRND
CHRND
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 CausalMutation CLINVAR Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. 18252226

2008
Entrez Id: 1144
Gene Symbol: CHRND
CHRND
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: 1144
Gene Symbol: CHRND
CHRND
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: 1144
Gene Symbol: CHRND
CHRND
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 Biomarker 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
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 Biomarker CTD_human

Entrez Id: 1144
Gene Symbol: CHRND
CHRND
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 GeneticVariation CLINVAR

Entrez Id: 1144
Gene Symbol: CHRND
CHRND
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		0.700 Biomarker GENOMICS_ENGLAND