Source: ORPHANET

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 1 0 1988 2012
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
Spondyloepiphyseal dysplasia, congenita
disease 1.000 None 0.981 1 0 1989 2020
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 0 1989 2017
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 0 0 1987 2019
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
Spondyloperipheral dysplasia short ulna
disease 0.750 None 1.000 2 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 2 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 1 0 1989 2017
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
disease 0.730 None 1.000 1 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
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
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
disease 0.700 None 1.000 1 0 1998 2012
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
disease 0.700 None 1.000 1 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: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis
disease 0.660 None 1.000 1 0 1988 2003
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 1 0 2005 2018
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
disease 0.410 None 1.000 1 0 2003 2005
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C4302548
Disease: Dysspondyloenchondromatosis
Dysspondyloenchondromatosis
disease 0.320 None 1.000 2 0 2011 2015
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1861481
Disease: Stickler syndrome, type 3
Stickler syndrome, type 3
disease 0.300 None 1.000 2 0 2005 2011
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
Spondylometaphyseal dysplasia, Algerian type
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
Spondylometaphyseal dysplasia, 'corner fracture' type
disease 0.300 None 1.000 1 0 2007 2007
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2
disease 0.300 None 1.000 1 0 2005 2005