Source: UNIPROT

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 8 4 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 8 7 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 3 3 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 2 1 1989 2017
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 1 2007 2014
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 4 1 1993 2016
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 1 1989 2016
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 2 4 1989 2017
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 5 4 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 1 1991 2016
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 4 1 1990 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 2 1989 2012
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 1 1 1998 2012