rs587777734, NOTCH1

N. diseases: 2
Disease: ADAMS-OLIVER SYNDROME 5 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
ADAMS-OLIVER SYNDROME 5
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
0.800 GeneticVariation UNIPROT Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448 2014
ADAMS-OLIVER SYNDROME 5
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
0.800 CausalMutation CLINVAR