×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
1.000
GeneticVariation
disease
UNIPROT
A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father.
17994563
2007
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
1.000
GeneticVariation
disease
BEFREE
Characterization of a type II collagen gene (COL2A1 ) mutation identified in cultured chondrocytes from human hypochondrogenesis .
1374906
1992
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
1.000
GeneticVariation
disease
UNIPROT
Achondrogenesis type II is a lethal skeletal dysplasia caused by new dominant mutations within the type II collagen gene (COL2A1 ).
15054848
2004
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
1.000
GeneticVariation
disease
BEFREE
Achondrogenesis type II (ACG2 ) is the most severe disorder that can be produced by dominant mutations in COL2A1 .
17994563
2007
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
1.000
GeneticVariation
disease
BEFREE
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II /hypochondrogenesis.
10797431
2000
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
1.000
GeneticVariation
disease
BEFREE
A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage.
7829510
1995
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
1.000
GeneticVariation
disease
UNIPROT
Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism.
2572591
1989
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
1.000
GeneticVariation
disease
BEFREE
This interpretation implies that dominant mutations of the COL2A1 gene may cause type II achondrogenesis -hypochondrogenesis .
3195588
1988
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
1.000
GeneticVariation
disease
BEFREE
Achondrogenesis type II is a lethal skeletal dysplasia caused by new dominant mutations within the type II collagen gene (COL2A1 ).
15054848
2004
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
1.000
GeneticVariation
disease
BEFREE
A heterozygous mutation in the COL2A1 gene was identified in a patient with hypochondrogenesis .
8723098
1996
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
1.000
GeneticVariation
disease
UNIPROT
A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage.
7829510
1995
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
1.000
GeneticVariation
disease
BEFREE
Achondrogenesis Type II (ACG2 ) is a lethal skeletal disorder caused by a dominant mutation in the type II collagen gene (COL2A1 ).
20583175
2010
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
1.000
GeneticVariation
disease
BEFREE
Achondrogenesis II-hypochondrogenesis and severe spondyloepiphyseal dysplasia congenita (SEDC) are lethal forms of dwarfism caused by dominant mutations in the type II collagen gene (COL2A1 ).
10745044
2000
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
1.000
GeneticVariation
disease
BEFREE
Mutation in the COL2A1 gene in a patient with hypochondrogenesis . Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes.
8175802
1994
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
1.000
GeneticVariation
disease
UNIPROT
A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer.
7757081
1995
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
1.000
GeneticVariation
disease
BEFREE
An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis .
1429602
1992
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
1.000
GeneticVariation
disease
UNIPROT
Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.
7757086
1995
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
1.000
GeneticVariation
disease
CLINVAR
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
1.000
GeneticVariation
disease
UNIPROT
Achondrogenesis II-hypochondrogenesis and severe spondyloepiphyseal dysplasia congenita (SEDC) are lethal forms of dwarfism caused by dominant mutations in the type II collagen gene (COL2A1 ).
10745044
2000
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
1.000
GeneticVariation
disease
UNIPROT
They also demonstrate that most, if not all, patients with achondrogenesis type II /hypochondrogenesis have mutations in the COL2A1 gene.
10797431
2000
×
Entrez Id:
4146
Gene Symbol:
MATN1
MATN1
0.010
GeneticVariation
disease
BEFREE
Achondrogenesis type II (Langer-Saldino), caused by a genetic defect in the major cartilage matrix protein , collagen type II, is a rare and severe skeletal dysplasia.
15574381
2005
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
1.000
Biomarker
disease
GENOMICS_ENGLAND
Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.
2543071
1989
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
1.000
Biomarker
disease
GENOMICS_ENGLAND
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
20513134
2010
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
1.000
Biomarker
disease
GENOMICS_ENGLAND
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
21922596
2012
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
1.000
Biomarker
disease
GENOMICS_ENGLAND
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.
15316962
2004