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: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease
disease 0.750 1.000 0 0 2005 2015
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome
disease 0.730 1.000 0 0 1993 2017
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C0086543
Disease: Cataract
Cataract
disease 0.610 strong 1.000 0 0 1993 1993
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease 0.500 0.895 0 0 1993 2016
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia
disease 0.500 1.000 0 0 1989 2016
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment
disease 0.450 1.000 0 0 1993 2017
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
group 0.430 1.000 0 0 1993 2018
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C0027092
Disease: Myopia
Myopia
disease 0.420 1.000 0 0 2007 2015
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
Sensorineural Hearing Loss (disorder)
disease 0.420 1.000 0 0 2005 2008
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C0013604
Disease: Edema
Edema
phenotype 0.400 0 0 2015 2017
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C1510497
Disease: Lens Opacities
Lens Opacities
phenotype 0.400 0 0 1993 1993
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder
disease 0.340 1.000 0 0 1995 2014
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
disease 0.140 1.000 0 0 2003 2011
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.130 1.000 0 0 1994 2005
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
disease 0.130 1.000 0 0 2003 2011
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.130 1.000 0 0 2000 2016
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C1835121
Disease: Premature osteoarthritis
Premature osteoarthritis
disease 0.120 1.000 0 0 2011 2014
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C0022408
Disease: Arthropathy
Arthropathy
group 0.120 1.000 0 0 1999 2013
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C0025995
Disease: Micromelia
Micromelia
disease 0.110 1.000 0 0 2015 2015
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease 0.110 1.000 0 0 2003 2003
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia
phenotype 0.110 1.000 0 0 2004 2004
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome
disease 0.110 1.000 0 0 2003 2003
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee
disease 0.110 1.000 0 0 2011 2011
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis
disease 0.110 1.000 0 0 2015 2015
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.474 0.724 1.00
CUI: C4020803
Disease: Abnormal type II collagen
Abnormal type II collagen
phenotype 0.110 1.000 0 0 2003 2003