NOTCH1, notch 1, 4851

N. diseases: 389; N. variants: 34
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
0.400 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
0.400 CausalMutation disease CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545 2016
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5
0.400 GeneticVariation disease CLINVAR Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545 2016
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5
0.400 GeneticVariation disease CLINVAR Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448 2014
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5
0.400 GeneticVariation disease UNIPROT Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448 2014
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5
0.400 CausalMutation disease CLINVAR Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448 2014
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5
0.400 CausalMutation disease CLINVAR Adams-Oliver syndrome and portal hypertension: fortuitous association or common mechanism? 22307742 2012
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5
0.400 CausalMutation disease CLINVAR Familial aplasia cutis congenita and coarctation of the aorta. 1621771 1992