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 0.444 0.846 1.00
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease
disease 0.740 None 1.000 0 0 2007 2014
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome
disease 0.730 None 1.000 0 0 1989 2017
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease 0.640 strong 1.000 0 0 1991 2011
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease 0.500 None 0.941 0 0 1993 2020
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia
disease 0.500 None 1.000 0 0 1989 2019
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment
disease 0.480 None 1.000 0 0 1993 2018
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
group 0.440 None 1.000 0 0 1993 2017
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
Sensorineural Hearing Loss (disorder)
disease 0.420 None 1.000 0 0 2004 2008
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0027092
Disease: Myopia
Myopia
disease 0.420 None 1.000 0 0 2007 2012
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0086543
Disease: Cataract
Cataract
disease 0.410 None 1.000 0 0 1993 1993
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0013604
Disease: Edema
Edema
phenotype 0.400 None 1.000 0 0 2014 2018
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype 0.400 limited 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder
disease 0.340 None 1.000 0 0 1995 2013
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.140 None 1.000 0 0 2000 2017
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
disease 0.130 None 1.000 0 0 2002 2010
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease 0.130 None 1.000 0 0 2015 2017
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease 0.130 None 1.000 0 0 1994 2005
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0271055
Disease: Rhegmatogenous retinal detachment
Rhegmatogenous retinal detachment
disease 0.120 None 1.000 0 0 2005 2016
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0022408
Disease: Arthropathy
Arthropathy
group 0.120 None 1.000 0 0 1999 2012
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C4477006
Disease: Membranous vitreous appearance
Membranous vitreous appearance
phenotype 0.120 None 1.000 0 0 2006 2010
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration
disease 0.120 None 1.000 0 0 2003 2013
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee
disease 0.120 None 1.000 0 0 2007 2011
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.110 None 1.000 0 0 2012 2012
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0025995
Disease: Micromelia
Micromelia
disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome
disease 0.110 None 1.000 0 0 2003 2003