Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 Biomarker GENOMICS_ENGLAND SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II. 8100209

1993
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.990 Biomarker GENOMICS_ENGLAND SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II. 8100209

1993
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.990 Biomarker GENOMICS_ENGLAND

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.990 Biomarker GENOMICS_ENGLAND

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.970 Biomarker GENOMICS_ENGLAND

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.970 Biomarker GENOMICS_ENGLAND

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.970 Biomarker GENOMICS_ENGLAND

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.900 Biomarker GENOMICS_ENGLAND

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		0.890 Biomarker GENOMICS_ENGLAND SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II. 8100209

1993
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		0.890 Biomarker GENOMICS_ENGLAND

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		0.890 Biomarker GENOMICS_ENGLAND

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis 		0.770 Biomarker GENOMICS_ENGLAND Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome. 27011056

2016
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis 		0.770 Biomarker GENOMICS_ENGLAND SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II. 8100209

1993
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		0.600 Biomarker GENOMICS_ENGLAND Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome. 27011056

2016
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		0.600 Biomarker GENOMICS_ENGLAND Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1. 25845371

2015
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		0.600 Biomarker GENOMICS_ENGLAND Mice with a deletion in the first intron of the Col1a1 gene develop age-dependent aortic dissection and rupture. 14630726

2004
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		0.600 Biomarker GENOMICS_ENGLAND SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II. 8100209

1993
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		0.600 Biomarker GENOMICS_ENGLAND Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity. 1867198

1991
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		0.600 Biomarker GENOMICS_ENGLAND

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.500 Biomarker GENOMICS_ENGLAND Mice with a deletion in the first intron of the Col1a1 gene develop age-dependent aortic dissection and rupture. 14630726

2004
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.500 Biomarker GENOMICS_ENGLAND Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity. 1867198

1991