COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.990 Biomarker disease CTD_human
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.990 Biomarker disease GENOMICS_ENGLAND
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.990 Biomarker disease GENOMICS_ENGLAND
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		0.990 GeneticVariation disease CLINVAR
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.970 Biomarker disease GENOMICS_ENGLAND
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.970 GeneticVariation disease CLINVAR
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.970 Biomarker disease GENOMICS_ENGLAND
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.970 Biomarker disease GENOMICS_ENGLAND
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		0.890 Biomarker disease GENOMICS_ENGLAND
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		0.890 Biomarker disease CTD_human
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		0.890 Biomarker disease GENOMICS_ENGLAND
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis 		0.770 Biomarker disease CTD_human
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis 		0.770 GeneticVariation disease CLINVAR
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis 		0.770 CausalMutation disease CLINVAR
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.700 Biomarker disease CTD_human
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.700 Biomarker disease HPO
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		0.600 Biomarker disease MGD
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		0.600 Biomarker disease CTD_human
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		0.600 CausalMutation disease CLINVAR