Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		0.700 GermlineCausalMutation disease ORPHANET Alagille syndrome: pathogenesis, diagnosis and management. 21934706 2012
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		0.700 Biomarker disease GENOMICS_ENGLAND Conditional ablation of the Notch2 receptor in the ocular lens. 22173065 2012
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		0.700 Biomarker disease GENOMICS_ENGLAND Renal anomalies in Alagille syndrome: a disease-defining feature. 22105858 2012
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		0.700 Biomarker disease GENOMICS_ENGLAND NOTCH2 mutations in Alagille syndrome. 22209762 2012
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		0.700 GeneticVariation disease UNIPROT NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. 16773578 2006
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		0.700 Biomarker disease GENOMICS_ENGLAND NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. 16773578 2006
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		0.700 Biomarker disease CTD_human
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		0.700 GeneticVariation disease CLINVAR
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		0.700 CausalMutation disease CLINVAR
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.300 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 		0.300 Biomarker disease CTD_human Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. 9207788 1997
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		0.300 Biomarker disease CTD_human Mutations in the human Jagged1 gene are responsible for Alagille syndrome. 9207787 1997