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: 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: C1836081
Disease: RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT 		disease 0.410 None 1.000 0 2 2003 2005
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: C1852989
Disease: Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 		disease 0.400 None 1.000 0 1 2008 2012
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: 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: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		disease 0.200 None 0.938 0 2 1987 2018
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.140 None 0.750 0 1 2003 2012
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: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		disease 0.130 None 1.000 0 1 2015 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: 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: 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: 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: 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: 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: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		disease 0.120 None 1.000 0 1 2011 2019
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 1 2005 2016
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		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: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia 		disease 0.110 None 1.000 0 0 2004 2004
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0456909
Disease: Blindness
Blindness 		phenotype 0.110 None 1.000 0 1 2000 2000
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.110 None 1.000 0 0 2011 2011
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		disease 0.110 None 1.000 0 0 2000 2000
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 1 2012 2012
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