Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		collagen type I alpha 2 chain 0.486 0.846 1.00
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		disease 0.950 strong 1.000 0 0 1991 2018
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		collagen type I alpha 2 chain 0.486 0.846 1.00
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		disease 0.800 strong 1.000 0 0 1985 2015
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		collagen type I alpha 2 chain 0.486 0.846 1.00
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		disease 0.700 strong 0.977 0 0 1980 2020
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		collagen type I alpha 2 chain 0.486 0.846 1.00
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease 0.670 strong 1.000 0 0 1985 2018
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		collagen type I alpha 2 chain 0.486 0.846 1.00
CUI: C0268358
Disease: Osteogenesis imperfecta, dominant perinatal lethal
Osteogenesis imperfecta, dominant perinatal lethal 		disease 0.660 strong 1.000 0 0 1985 2011
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		collagen type I alpha 2 chain 0.486 0.846 1.00
CUI: C1857034
Disease: Ehlers-Danlos syndrome, cardiac valvular form
Ehlers-Danlos syndrome, cardiac valvular form 		disease 0.600 None 1.000 1 0 2004 2011
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		collagen type I alpha 2 chain 0.486 0.846 1.00
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		disease 0.400 strong 1.000 1 0 2006 2006
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		collagen type I alpha 2 chain 0.486 0.846 1.00
CUI: C4303789
Disease: Ehlers-Danlos syndrome cardiac valvular type
Ehlers-Danlos syndrome cardiac valvular type 		disease 0.400 strong 1.000 1 0 2006 2006
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		collagen type I alpha 2 chain 0.486 0.846 1.00
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		disease 0.400 strong 1.000 0 0 1987 2020
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		collagen type I alpha 2 chain 0.486 0.846 1.00
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.300 limited 0 0