Source: INFERRED

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: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0023931
Disease: Lobstein Disease
Lobstein Disease
disease 1.000 None 0.976 89 176 1988 2019
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
Osteogenesis imperfecta type III (disorder)
disease 0.990 None 1.000 1 22 1989 2018
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
Osteogenesis imperfecta type IV (disorder)
disease 0.970 None 1.000 1 21 1989 2018
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease 0.900 None 0.984 3 36 1985 2020
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis
disease 0.770 None 1.000 0 8 1993 2019
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
disease 0.700 None 1.000 0 0 1996 2017
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
disease 0.600 None 1.000 0 11 1991 2016
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0002949
Disease: Aneurysm, Dissecting
Aneurysm, Dissecting
disease 0.400 None 1.000 0 0 1996 1996
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group 0.400 None 1.000 0 0 2001 2001
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
Familial thoracic aortic aneurysm and aortic dissection
disease 0.400 limited 0 1
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease 0.200 None 0.900 0 0 1998 2018
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0029899
Disease: Otosclerosis
Otosclerosis
disease 0.190 None 0.778 0 0 2002 2014
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease 0.160 None 0.833 1 1 2007 2018
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease 0.150 None 0.800 1 1 2007 2018
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.140 None 1.000 0 2 2001 2006
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta
disease 0.130 None 1.000 0 1 2001 2019
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma
disease 0.130 None 0.667 0 0 1999 2019
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
Osteoporosis, Postmenopausal
disease 0.120 None 1.000 0 8 2013 2020
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.120 None 1.000 0 0 2016 2018
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0004096
Disease: Asthma
Asthma
disease 0.120 None 1.000 0 0 2008 2018
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0027092
Disease: Myopia
Myopia
disease 0.120 None 1.000 0 0 2007 2009
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
disease 0.120 None 1.000 0 0 2013 2016
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
disease 0.110 None 1.000 1 1 2010 2019
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0024636
Disease: Malocclusion
Malocclusion
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment
disease 0.110 None 1.000 0 0 2016 2016