Source: GENOMICS_ENGLAND

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: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		disease 1.000 None 1.000 4 0 1988 2012
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		disease 1.000 None 0.981 4 0 1989 2020
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		disease 0.800 None 0.968 4 0 1987 2019
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia 		disease 0.800 None 1.000 4 0 1989 2017
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0796173
Disease: Spondyloperipheral dysplasia short ulna
Spondyloperipheral dysplasia short ulna 		disease 0.750 None 1.000 3 0 1989 2013
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 1 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 3 0 1989 2017
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1835437
Disease: Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 		disease 0.730 None 1.000 3 0 1989 2016
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1836683
Disease: Czech dysplasia, metatarsal type
Czech dysplasia, metatarsal type 		disease 0.730 None 1.000 1 0 1993 2016
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1836080
Disease: Stickler Syndrome, Type I, Nonsyndromic Ocular
Stickler Syndrome, Type I, Nonsyndromic Ocular 		disease 0.710 None 1.000 3 0 1989 2018
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C4225273
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE 		disease 0.710 moderate 1.000 1 0 1991 2016
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1851536
Disease: Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 		disease 0.700 None 1.000 2 0 1998 2012
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C4551562
Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 		disease 0.700 None 1.000 2 0 1989 2012
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0432214
Disease: Namaqualand hip dysplasia
Namaqualand hip dysplasia 		disease 0.700 None 1.000 1 0 1990 2012
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head 		phenotype 0.650 None 1.000 0 0 2005 2018
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 1 0 1991 2011
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C4520892
Disease: Otospondylomegaepiphyseal dysplasia
Otospondylomegaepiphyseal dysplasia 		disease 0.610 None 1.000 1 0 2005 2012
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 2 0 2008 2012
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: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 None 1.000 1 0 2008 2008