rs67682641, COL1A1

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Osteogenesis imperfecta type IV (disorder)
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
0.700 GeneticVariation UNIPROT
Osteogenesis imperfecta, dominant perinatal lethal
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
0.700 GeneticVariation UNIPROT
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
0.700 CausalMutation CLINVAR
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 CausalMutation CLINVAR Characterization of three osteogenesis imperfecta collagen alpha 1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity. 1445258 1992
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 CausalMutation CLINVAR Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology. 8094076 1993
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 CausalMutation CLINVAR An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta. 7691343 1993
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 CausalMutation CLINVAR Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the alpha 1(I) chain of type I collagen. 8456809 1993
Ehlers-Danlos Syndrome
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
0.010 GeneticVariation BEFREE Recently, we described a patient with severe classical EDS due to a Gly1489Glu substitution in the alpha1(V) triple-helical domain who was, in addition, heterozygous for a disease-modifying Gly530Ser substitution in the alpha1(V) NH(2)-terminal domain [Giunta and Steinmann, 2000: Am.J. Med.Genet. 11992482 2002
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
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
0.700 CausalMutation CLINVAR Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms. 22589248 2012
Hypodontia
CUI: C0020608
Disease: Hypodontia
0.010 GeneticVariation BEFREE A spontaneous novel mutation in COL1A2 (c.1171G>A; p.Gly391Ser) causing only dentin defects and a novel mutation in PAX9 (c.43T>A; p.Phe15Ile) causing hypodontia were identified and correlated with the phenotypic presentations in the family. 23227268 2012
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