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
Spondyloepiphyseal dysplasia, congenita
disease 1.000 None 0.981 1 11 1989 2020
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 0 11 1988 2012
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 1 6 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 21 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 1 8 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 0 4 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 8 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 0 4 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 0 4 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 0 5 1991 2016
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
Stickler Syndrome, Type I, Nonsyndromic Ocular
disease 0.710 None 1.000 0 8 1989 2018
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 0 6 1989 2012
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 0 4 1998 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 0 4 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 0 3 1988 2003
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: C4520892
Disease: Otospondylomegaepiphyseal dysplasia
Otospondylomegaepiphyseal dysplasia
disease 0.610 None 1.000 0 1 2005 2012
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 1 1 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: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
disease 0.440 None 1.000 0 1 2003 2011
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 1 2007 2012
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia
disease 0.410 None 1.000 0 1 1993 1993