rs72648326, COL1A1

N. diseases: 7
Disease: Lobstein Disease ×
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 Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta. 27132807 2016
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380 2015
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 CausalMutation CLINVAR Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. 15024745 2004
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 CausalMutation CLINVAR Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta. 8613526 1996
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 CausalMutation CLINVAR Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains. 8808594 1996