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: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome
0.530 Biomarker disease BEFREE Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545 2016
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome
0.530 GeneticVariation disease BEFREE Mutations in EOGT and DOCK6 cause autosomal-recessive AOS, whereas mutations in ARHGAP31, RBPJ, and NOTCH1 lead to autosomal-dominant AOS. 26299364 2015
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome
0.530 GeneticVariation disease BEFREE Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448 2014
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome
0.530 Biomarker disease CTD_human
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome
0.530 GermlineCausalMutation disease ORPHANET