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: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome 		TG 0.700 CausalMutation CLINVAR End-Stage Renal Disease in an Infant With Hajdu-Cheney Syndrome. 27312922 2016
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome 		TG 0.700 CausalMutation CLINVAR Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. 21378989 2011
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome 		TG 0.700 CausalMutation CLINVAR Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. 21378985 2011
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome 		TG 0.700 CausalMutation CLINVAR PEST sequences and regulation by proteolysis. 8755249 1996
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome 		T 0.700 CausalMutation CLINVAR