Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28939668
rs28939668
JAG1
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.830 GeneticVariation UNIPROT Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 20437614

2010
dbSNP: rs28939668
rs28939668
JAG1
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.830 GeneticVariation BEFREE A specific G274D mutation in the second epidermal growth factor repeat of the Jagged-1 was found to correlate with tetralogy of Fallot symptoms but not with usual Alagille syndrome phenotypes. 19780835

2009
dbSNP: rs28939668
rs28939668
JAG1
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.830 GeneticVariation BEFREE We have studied a JAG1 missense mutation (JAG1-G274D) that was previously identified in 13 individuals from an extended family with cardiac defects of the type seen in patients with AGS (e.g., peripheral pulmonic stenosis and tetralogy of Fallot) in the absence of liver dysfunction. 12649809

2003
dbSNP: rs28939668
rs28939668
JAG1
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.830 GeneticVariation UNIPROT Familial Tetralogy of Fallot caused by mutation in the jagged1 gene. 11152664

2001
dbSNP: rs28939668
rs28939668
JAG1
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.830 GeneticVariation BEFREE Evaluation of candidate loci in a large kindred segregating autosomal dominant ToF with reduced penetrance culminated in identification of a missense mutation (G274D) in JAG1, the gene encoding jagged1, a Notch ligand expressed in the developing right heart. 11152664

2001
dbSNP: rs28939668
rs28939668
JAG1
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		T 0.830 CausalMutation CLINVAR

dbSNP: rs121918350
rs121918350
JAG1
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA. 23801938

2013
dbSNP: rs121918350
rs121918350
JAG1
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 20437614

2010
dbSNP: rs121918350
rs121918350
JAG1
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. 16575836

2006
dbSNP: rs121918350
rs121918350
JAG1
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients. 15712272

2005
dbSNP: rs121918350
rs121918350
JAG1
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome. 12497640

2003
dbSNP: rs121918350
rs121918350
JAG1
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients. 12442286

2002
dbSNP: rs121918350
rs121918350
JAG1
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome. 11157803

2001
dbSNP: rs121918350
rs121918350
JAG1
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients. 11180599

2001
dbSNP: rs121918350
rs121918350
JAG1
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome. 11139247

2001
dbSNP: rs121918350
rs121918350
JAG1
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population. 11058898

2000
dbSNP: rs121918350
rs121918350
JAG1
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Jagged-1 mutation analysis in Italian Alagille syndrome patients. 10533065

1999
dbSNP: rs121918350
rs121918350
JAG1
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. 10220506

1999
dbSNP: rs121918350
rs121918350
JAG1
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families. 9585603

1998
dbSNP: rs121918350
rs121918350
JAG1
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. 9207788

1997
dbSNP: rs121918350
rs121918350
JAG1
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121918351
rs121918351
JAG1
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		T 0.800 CausalMutation CLINVAR Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome. 25676721

2015
dbSNP: rs121918351
rs121918351
JAG1
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		T 0.800 CausalMutation CLINVAR Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome. 24748328

2014
dbSNP: rs121918351
rs121918351
JAG1
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA. 23801938

2013
dbSNP: rs121918351
rs121918351
JAG1
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		T 0.800 CausalMutation CLINVAR Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome. 22487239

2012