rs67879854, COL1A1

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 CausalMutation CLINVAR DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. 27509835 2016
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 CausalMutation CLINVAR Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. 17078022 2007
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
0.700 CausalMutation CLINVAR
Cortical Congenital Hyperostosis
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
0.700 CausalMutation CLINVAR
Osteogenesis imperfecta, recessive perinatal lethal
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
0.700 CausalMutation CLINVAR
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
0.700 CausalMutation CLINVAR
Osteoporosis, Postmenopausal
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
0.700 CausalMutation CLINVAR
Osteogenesis imperfecta type IV (disorder)
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
0.700 CausalMutation CLINVAR