rs1553193507, NOTCH2

N. diseases: 2
Disease: Hajdu-Cheney Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hajdu-Cheney Syndrome
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
0.700 GeneticVariation CLINVAR Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. 21378989 2011
Hajdu-Cheney Syndrome
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
0.700 CausalMutation CLINVAR