×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Dysmorphic features
0.100
CausalMutation
CLINVAR
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.
26626311
2016
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling.
26358419
2016
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Dysmorphic features
0.100
CausalMutation
CLINVAR
Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling.
26358419
2016
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Dysmorphic features
0.100
GeneticVariation
CLINVAR
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.
26626311
2016
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Dysmorphic features
0.100
CausalMutation
CLINVAR
Association between Kniest dysplasia and chondrosarcoma in a child.
26345137
2015
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Dysmorphic features
0.100
CausalMutation
CLINVAR
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
25604898
2015
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Dysmorphic features
0.100
GeneticVariation
CLINVAR
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
25604898
2015
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Dysmorphic features
0.100
CausalMutation
CLINVAR
Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).
26250472
2015
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).
26250472
2015
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Association between Kniest dysplasia and chondrosarcoma in a child.
26345137
2015
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
22791362
2012
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Dysmorphic features
0.100
CausalMutation
CLINVAR
Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.
22791362
2012
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Dysmorphic features
0.100
CausalMutation
CLINVAR
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
20513134
2010
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
20179744
2010
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
20513134
2010
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Dysmorphic features
0.100
CausalMutation
CLINVAR
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
20179744
2010
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Dysmorphic features
0.100
GeneticVariation
CLINVAR
A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.
12925722
2003
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Dysmorphic features
0.100
CausalMutation
CLINVAR
Basic helix-loop-helix factors in cortical development.
12848929
2003
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Dysmorphic features
0.100
CausalMutation
CLINVAR
A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.
12925722
2003
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Basic helix-loop-helix factors in cortical development.
12848929
2003
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Dysmorphic features
0.100
CausalMutation
CLINVAR
Clinical and Molecular genetics of Stickler syndrome.
10353778
1999
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Clinical and Molecular genetics of Stickler syndrome.
10353778
1999
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Gly-X-Y tripeptide frequencies in collagen: a context for host-guest triple-helical peptides.
9724608
1998
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Dysmorphic features
0.100
CausalMutation
CLINVAR
Gly-X-Y tripeptide frequencies in collagen: a context for host-guest triple-helical peptides.
9724608
1998
×
Entrez Id:
1280
Gene Symbol:
COL2A1
COL2A1
Dysmorphic features
0.100
CausalMutation
CLINVAR
Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).
1971141
1990