Source: HPO

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: 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
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
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: 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: C0029453
Disease: Osteopenia
Osteopenia
disease 0.140 None 1.000 0 0 2001 2006
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: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta
disease 0.130 None 1.000 0 0 2001 2019
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: 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: 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: 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: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0231528
Disease: Myalgia
Myalgia
phenotype 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
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.110 None 1.000 0 0 1998 1998
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal
phenotype 0.110 None 1.000 0 0 2014 2014
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: C1835121
Disease: Premature osteoarthritis
Premature osteoarthritis
disease 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1837081
Disease: Tibial bowing
Tibial bowing
phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1835884
Disease: Triangular face
Triangular face
phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
Bowing of limbs due to multiple fractures
phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C1837463
Disease: Narrow face
Narrow face
phenotype 0.100 None 0 0