JAG1, jagged canonical Notch ligand 1, 182

N. diseases: 420; N. variants: 63
Disease: Alagille Syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 GeneticVariation disease UNIPROT Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients. 11180599 2001
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 GeneticVariation disease UNIPROT Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 20437614 2010
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 GeneticVariation disease UNIPROT Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. 10220506 1999
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 GeneticVariation disease UNIPROT Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. 9207788 1997
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 GeneticVariation disease UNIPROT Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. 16575836 2006
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 GeneticVariation disease UNIPROT Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome. 11157803 2001
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 GeneticVariation disease CLINVAR Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome. 22487239 2012
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 GeneticVariation disease UNIPROT Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome. 12497640 2003
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 GeneticVariation disease UNIPROT Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families. 9585603 1998
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 GeneticVariation disease UNIPROT Jagged-1 mutation analysis in Italian Alagille syndrome patients. 10533065 1999
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 GeneticVariation disease UNIPROT Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome. 11139247 2001
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 GeneticVariation disease UNIPROT Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population. 11058898 2000
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 GeneticVariation disease CLINVAR Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population. 11058898 2000
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 GeneticVariation disease UNIPROT Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients. 15712272 2005
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 GeneticVariation disease 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
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 GeneticVariation disease BEFREE Verify the involvement of JAG1 variants in the pathogenesis of congenital thyroid defects and the frequency of unexplained hypothyroidism in a series of ALGS1 patients. 26760175 2016
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 GeneticVariation disease UNIPROT DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients. 12442286 2002
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 Biomarker disease CTD_human Mutations in the human Jagged1 gene are responsible for Alagille syndrome. 9207787 1997
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 Biomarker disease GENOMICS_ENGLAND Moyamoya vascular pattern in Alagille syndrome. 22759690 2012
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 Biomarker disease GENOMICS_ENGLAND Renal anomalies in Alagille syndrome: a disease-defining feature. 22105858 2012
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 Biomarker disease CTD_human Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes. 21532573 2011
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 Biomarker disease GENOMICS_ENGLAND Clinical utility gene card for: Alagille Syndrome (ALGS). 23881058 2014
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 Biomarker disease CTD_human Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. 9207788 1997
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.710 CausalMutation disease CLINVAR Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population. 11058898 2000