JAG1, jagged canonical Notch ligand 1, 182

N. diseases: 420; N. variants: 63
Disease: Alagille Syndrome 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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: rs121918350
rs121918350
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome. 12497640 2003
dbSNP: rs121918350
rs121918350
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
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
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome. 11157803 2001
dbSNP: rs121918350
rs121918350
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients. 11180599 2001
dbSNP: rs121918350
rs121918350
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome. 11139247 2001
dbSNP: rs121918350
rs121918350
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population. 11058898 2000
dbSNP: rs121918350
rs121918350
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Jagged-1 mutation analysis in Italian Alagille syndrome patients. 10533065 1999
dbSNP: rs121918350
rs121918350
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		0.800 GeneticVariation UNIPROT Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. 10220506 1999
dbSNP: rs121918350
rs121918350
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
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
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
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
Entrez Id: 182
Gene Symbol: JAG1
JAG1
CUI: C1956125
Disease:
Alagille Syndrome 1 		A 0.800 CausalMutation CLINVAR