rs72651642, 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 Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta. 28378289 2017
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
Osteogenesis imperfecta type IV (disorder)
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
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 The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta. 21667357 2012
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
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
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
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
0.700 CausalMutation CLINVAR