×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
Body Height
0.100
GeneticVariation
GWASCAT
Characterizing rare and low-frequency height-associated variants in the Japanese population.
31562340
2019
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
Body Height
0.100
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
Waist-Hip Ratio
0.100
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
Central corneal thickness
0.100
GeneticVariation
GWASCAT
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
29760442
2018
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.
25204870
2015
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.
25533456
2015
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
Dysmorphic features
0.100
CausalMutation
CLINVAR
Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.
25533456
2015
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
Dysmorphic features
0.100
CausalMutation
CLINVAR
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.
25204870
2015
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
Muscle hypotonia
0.100
CausalMutation
CLINVAR
COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy.
23564457
2013
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.
24038877
2013
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
Dysmorphic features
0.100
CausalMutation
CLINVAR
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.
24038877
2013
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
Dysmorphic features
0.100
CausalMutation
CLINVAR
COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy.
23564457
2013
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.
22426012
2012
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
Dysmorphic features
0.100
CausalMutation
CLINVAR
Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.
22426012
2012
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Early onset collagen VI myopathies: Genetic and clinical correlations.
20976770
2010
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
Dysmorphic features
0.100
CausalMutation
CLINVAR
Early onset collagen VI myopathies: Genetic and clinical correlations.
20976770
2010
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Autosomal recessive Bethlem myopathy.
19949035
2009
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
Dysmorphic features
0.100
CausalMutation
CLINVAR
Autosomal recessive Bethlem myopathy.
19949035
2009
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Autosomal recessive myosclerosis myopathy is a collagen VI disorder.
18852439
2008
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
Dysmorphic features
0.100
CausalMutation
CLINVAR
Autosomal recessive myosclerosis myopathy is a collagen VI disorder.
18852439
2008
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
15689448
2005
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
Dysmorphic features
0.100
CausalMutation
CLINVAR
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
15689448
2005
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
Muscle hypotonia
0.100
CausalMutation
CLINVAR
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.
11865138
2002
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
Dysmorphic features
0.100
CausalMutation
CLINVAR
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.
11865138
2002
×
Entrez Id:
1292
Gene Symbol:
COL6A2
COL6A2
Cachexia
0.100
Biomarker
HPO