COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
Disease: Lobstein Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 GeneticVariation disease BEFREE Deletion of 19 base pairs in intron 13 of the gene for the pro alpha 2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta. 7916744 1993
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 GeneticVariation disease BEFREE On the other hand, Sillence OI type I segregated with both COL1A1 (17 pedigrees) and COL1A2 (7 pedigrees). 1967900 1990
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 Biomarker disease BEFREE Some phenotype correlations, notably between the OI type IV phenotype and linkage to COL1A2 and between presenile hearing loss in OI type I and linkage to COL1A1, can be used to improve risk estimates substantially in families where there are no segregation data to distinguish whether COL1A1 or COL1A2 is the mutant locus. 8456805 1993
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 GeneticVariation disease BEFREE Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen. 6954526 1982
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 Biomarker disease BEFREE COL1A1 and COL1A2 were analyzed in 79 children with OI (type I n=33, type III n=25 and type IV n=21) treated with Pamidronate. 26957348 2016
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 GeneticVariation disease BEFREE COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I. 30829463 2019
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 GeneticVariation disease BEFREE OI type I was linked to the alpha 1(I) gene (COL1A1) in two families, and to the alpha 2(I) gene (COL1A2) in one family. 1972760 1990
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 GeneticVariation disease BEFREE Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I. 3023615 1986
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 GeneticVariation disease BEFREE A second family with type I osteogenesis imperfecta carried a heterozygous nonsense mutation c.4060C > T (p.Gln1354X) within the last exon of COL1A2. 24140640 2013
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR Mutations in patients with osteogenesis imperfecta from consanguineous Indian families. 25450603 2015
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR A rare case of osteogenesis imperfecta combined with complete tooth loss. 23934635 2014
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 GeneticVariation disease CLINVAR The effects of different cysteine for glycine substitutions within alpha 2(I) chains. Evidence of distinct structural domains within the type I collagen triple helix. 1990009 1991
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta. 26627451 2015
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. 15241796 2004
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. 16786509 2006
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 GeneticVariation disease 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
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 GeneticVariation disease CLINVAR A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain. 2993307 1985
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta. 8829649 1996
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR Pre- and postnatal transplantation of fetal mesenchymal stem cells in osteogenesis imperfecta: a two-center experience. 24342908 2014
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III. 7860070 1995
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR Genetics of Osteoporosis in Children. 26138843 2015
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 GeneticVariation disease CLINVAR Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. 16816023 2006
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype. 11288717 2001
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 GeneticVariation disease CLINVAR Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta. 27748872 2016
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		0.890 CausalMutation disease CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011