JAG1, jagged canonical Notch ligand 1, 182

N. diseases: 420; N. variants: 63
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28939668
rs28939668
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0039685
Disease:
Tetralogy of Fallot 		0.830 GeneticVariation UNIPROT Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 20437614 2010
dbSNP: rs28939668
rs28939668
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0039685
Disease:
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
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0039685
Disease:
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
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0039685
Disease:
Tetralogy of Fallot 		0.830 GeneticVariation UNIPROT Familial Tetralogy of Fallot caused by mutation in the jagged1 gene. 11152664 2001
dbSNP: rs28939668
rs28939668
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0039685
Disease:
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
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0039685
Disease:
Tetralogy of Fallot 		T 0.830 CausalMutation CLINVAR
dbSNP: rs121918351
rs121918351
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
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
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		T 0.800 CausalMutation CLINVAR Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome. 24748328 2014
dbSNP: rs121918350
rs121918350
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
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
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
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: rs121918352
rs121918352
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
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
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		T 0.800 CausalMutation CLINVAR Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome. 22487239 2012
dbSNP: rs121918350
rs121918350
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 20437614 2010
dbSNP: rs121918351
rs121918351
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 20437614 2010
dbSNP: rs121918352
rs121918352
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 20437614 2010
dbSNP: rs121918353
rs121918353
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1866053
Disease:
Deafness, Congenital Heart Defects, and Posterior Embryotoxon 		T 0.800 GeneticVariation CLINVAR Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 20437614 2010
dbSNP: rs121918353
rs121918353
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1866053
Disease:
Deafness, Congenital Heart Defects, and Posterior Embryotoxon 		0.800 GeneticVariation UNIPROT Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 20437614 2010
dbSNP: rs769531968
rs769531968
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0039685
Disease:
Tetralogy of Fallot 		0.800 GeneticVariation UNIPROT Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 20437614 2010
dbSNP: rs769531968
rs769531968
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C0039685
Disease:
Tetralogy of Fallot 		A 0.800 GeneticVariation CLINVAR Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 20437614 2010
dbSNP: rs121918350
rs121918350
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. 16575836 2006
dbSNP: rs121918351
rs121918351
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. 16575836 2006
dbSNP: rs121918352
rs121918352
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. 16575836 2006
dbSNP: rs121918350
rs121918350
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients. 15712272 2005
dbSNP: rs121918351
rs121918351
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients. 15712272 2005
dbSNP: rs121918352
rs121918352
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients. 15712272 2005