NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Disease: ADAMS-OLIVER SYNDROME 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864622059
rs864622059
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5 		GT 0.700 CausalMutation CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545 2015