Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 CausalMutation CLINVAR Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). 15689448

2005
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 CausalMutation CLINVAR Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 11865138

2002
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 CausalMutation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 GeneticVariation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 CausalMutation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237

1993
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.790 GeneticVariation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237

1993
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1850671
Disease: Myosclerosis, Autosomal Recessive
Myosclerosis, Autosomal Recessive 		0.610 CausalMutation CLINVAR

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1850671
Disease: Myosclerosis, Autosomal Recessive
Myosclerosis, Autosomal Recessive 		0.610 GeneticVariation CLINVAR

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0026848
Disease: Myopathy
Myopathy 		0.160 GeneticVariation CLINVAR

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0026848
Disease: Myopathy
Myopathy 		0.160 Biomarker HPO

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 GeneticVariation CLINVAR

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.140 Biomarker HPO

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.110 CausalMutation CLINVAR

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.110 Biomarker HPO

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0005890
Disease: Body Height
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
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1720164
Disease: Central corneal thickness
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
CUI: C0026827
Disease: Muscle hypotonia
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
CUI: C0026827
Disease: Muscle hypotonia
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
CUI: C0432072
Disease: Dysmorphic features
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
CUI: C0432072
Disease: Dysmorphic features
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
CUI: C0026827
Disease: Muscle hypotonia
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
CUI: C0026827
Disease: Muscle hypotonia
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
CUI: C0432072
Disease: Dysmorphic features
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