NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5
0.600 GeneticVariation disease CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900 2018
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5
0.600 CausalMutation disease CLINVAR Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 29924900 2018
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5
0.600 CausalMutation disease CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545 2015
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5
0.600 GeneticVariation disease CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545 2015
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5
0.600 CausalMutation disease CLINVAR Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448 2014
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5
0.600 GeneticVariation disease UNIPROT Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448 2014
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5
0.600 Biomarker disease GENOMICS_ENGLAND Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448 2014
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5
0.600 GeneticVariation disease CLINVAR Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448 2014