SERPINH1
0.500
GermlineCausalMutation
disease
ORPHANET
Nosology and classification of genetic skeletal disorders: 2010 revision.
21438135
2011
SERPINH1
0.500
Biomarker
disease
GENOMICS_ENGLAND
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.
20188343
2010
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
0.950
GeneticVariation
disease
BEFREE
Also, a missense mutation in COL1A2 changing Gly→Cys in the central part of the triple helical domain of the collagen type I molecule caused OI type III .
29543922
2018
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
0.950
CausalMutation
disease
CLINVAR
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.
25944380
2015
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
0.950
GermlineCausalMutation
disease
ORPHANET
Nosology and classification of genetic skeletal disorders: 2010 revision.
21438135
2011
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
0.950
GeneticVariation
disease
BEFREE
Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2 .
19208385
2009
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
0.950
GeneticVariation
disease
UNIPROT
Osteogenesis imperfecta: clinical, biochemical and molecular findings.
16879195
2006
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
0.950
GeneticVariation
disease
UNIPROT
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
16786509
2006
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
0.950
Biomarker
disease
MGD
The role of the alpha2 chain in the stabilization of the collagen type I heterotrimer: a study of the type I homotrimer in oim mouse tissues.
12206762
2002
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
0.950
GeneticVariation
disease
BEFREE
A new recurrent point mutation in the COL1A2 gene was found in a patient with type III osteogenesis imperfecta (OI ).
11359465
2001
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
0.950
GeneticVariation
disease
UNIPROT
Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online.
10408781
1999
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
0.950
Biomarker
disease
MGD
Collagen from the osteogenesis imperfecta mouse model (oim) shows reduced resistance against tensile stress.
9202055
1997
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
0.950
GeneticVariation
disease
UNIPROT
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
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
0.950
Biomarker
disease
MGD
Heterozygous oim mice exhibit a mild form of osteogenesis imperfecta.
8968022
1996
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
0.950
GeneticVariation
disease
UNIPROT
Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding.
8723681
1996
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
0.950
GeneticVariation
disease
UNIPROT
Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism.
8800927
1996
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
0.950
Biomarker
disease
MGD
Bone mineralization in an osteogenesis imperfecta mouse model studied by small-angle x-ray scattering.
8567960
1996
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
0.950
GeneticVariation
disease
BEFREE
Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen .
8728690
1996
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
0.950
GeneticVariation
disease
UNIPROT
A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III.
7749416
1995
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
0.950
GeneticVariation
disease
UNIPROT
Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation.
7720740
1995
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
0.950
GeneticVariation
disease
UNIPROT
A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III.
7860070
1995
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
0.950
GeneticVariation
disease
UNIPROT
Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix.
7881420
1994
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
0.950
GeneticVariation
disease
UNIPROT
Osteogenesis imperfecta: comparison of molecular defects with bone histological changes.
7520724
1994
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
0.950
GeneticVariation
disease
UNIPROT
A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals.
8081394
1994
×
Entrez Id:
1278
Gene Symbol:
COL1A2
COL1A2
0.950
GeneticVariation
disease
BEFREE
We preformed linkage analyses in eight OI type III families using RFLPs associated with the COL1A1 and COL1A2 loci to determine whether mutations in the genes for type I collagen were responsible for this form of OI.
8100856
1993