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: rs587777735
rs587777735
Entrez Id: 4851;100616242
Gene Symbol: NOTCH1;MIR4673
NOTCH1;MIR4673
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5 		A 0.700 GeneticVariation CLINVAR Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448 2014
dbSNP: rs587777735
rs587777735
Entrez Id: 4851;100616242
Gene Symbol: NOTCH1;MIR4673
NOTCH1;MIR4673
CUI: C4014970
Disease:
ADAMS-OLIVER SYNDROME 5 		A 0.700 CausalMutation CLINVAR