NOTCH2, notch receptor 2, 4853

N. diseases: 384; N. variants: 30
Disease: Hajdu-Cheney Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553193507
rs1553193507
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome 		A 0.700 GeneticVariation CLINVAR Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. 21378989 2011
dbSNP: rs1553193507
rs1553193507
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome 		A 0.700 CausalMutation CLINVAR