NOTCH2, notch receptor 2, 4853

N. diseases: 384; N. variants: 30
Disease: Alagille Syndrome 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		0.700 GermlineCausalMutation disease ORPHANET Alagille syndrome: pathogenesis, diagnosis and management. 21934706 2012
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		0.700 Biomarker disease GENOMICS_ENGLAND Conditional ablation of the Notch2 receptor in the ocular lens. 22173065 2012
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		0.700 Biomarker disease GENOMICS_ENGLAND Renal anomalies in Alagille syndrome: a disease-defining feature. 22105858 2012
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		0.700 Biomarker disease GENOMICS_ENGLAND NOTCH2 mutations in Alagille syndrome. 22209762 2012
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		0.700 GeneticVariation disease UNIPROT NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. 16773578 2006
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		0.700 Biomarker disease GENOMICS_ENGLAND NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. 16773578 2006
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		0.700 Biomarker disease CTD_human
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		0.700 GeneticVariation disease CLINVAR
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		0.700 CausalMutation disease CLINVAR
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		0.700 Biomarker disease GENOMICS_ENGLAND