Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.710 CausalMutation disease CLINVAR Jagged1 (JAG1): Structure, expression, and disease associations. 26548814 2016
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		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
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.710 CausalMutation disease CLINVAR Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome. 25676721 2015
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.710 CausalMutation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.710 CausalMutation disease CLINVAR JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome. 26076142 2015
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.710 CausalMutation disease CLINVAR Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome. 24748328 2014
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.710 Biomarker disease GENOMICS_ENGLAND Clinical utility gene card for: Alagille Syndrome (ALGS). 23881058 2014
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		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
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.710 Biomarker disease GENOMICS_ENGLAND Moyamoya vascular pattern in Alagille syndrome. 22759690 2012
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.710 Biomarker disease GENOMICS_ENGLAND Renal anomalies in Alagille syndrome: a disease-defining feature. 22105858 2012
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.710 GeneticVariation disease CLINVAR Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome. 22487239 2012
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.710 CausalMutation disease CLINVAR Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features. 22488849 2012
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.710 CausalMutation disease CLINVAR Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome. 22487239 2012
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.710 Biomarker disease CTD_human Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes. 21532573 2011
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.710 GeneticVariation disease UNIPROT Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 20437614 2010
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.710 GeneticVariation disease UNIPROT Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. 16575836 2006
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.710 CausalMutation disease CLINVAR Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. 16575836 2006
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.710 CausalMutation disease CLINVAR Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients. 15712272 2005
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.710 GeneticVariation disease UNIPROT Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients. 15712272 2005
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.710 GeneticVariation disease UNIPROT Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome. 12497640 2003
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.710 CausalMutation disease CLINVAR DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients. 12442286 2002
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.710 GeneticVariation disease UNIPROT DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients. 12442286 2002
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.710 GeneticVariation disease UNIPROT Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients. 11180599 2001
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.710 GeneticVariation disease UNIPROT Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome. 11157803 2001
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.710 GeneticVariation disease UNIPROT Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome. 11139247 2001