NOTCH2, notch receptor 2, 4853

N. diseases: 384; N. variants: 30
Disease: Alagille Syndrome 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033632
rs111033632
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C1857761
Disease:
Alagille Syndrome 2 		0.800 GeneticVariation UNIPROT NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. 16773578 2006
dbSNP: rs111033632
rs111033632
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C1857761
Disease:
Alagille Syndrome 2 		T 0.800 CausalMutation CLINVAR