Source: HPO

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: 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: C0025995
Disease: Micromelia
Micromelia 		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: C0027092
Disease: Myopia
Myopia 		disease 0.420 None 1.000 0 0 2007 2012
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: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		disease 0.100 None 0 0
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: 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: 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: 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: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C4020953
Disease: Abnormality of vertebral epiphysis morphology
Abnormality of vertebral epiphysis morphology 		disease 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C4021499
Disease: Short distal phalanx of the 4th finger
Short distal phalanx of the 4th finger 		disease 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0267048
Disease: Glossoptosis
Glossoptosis 		disease 0.100 None 0 0
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: C4021847
Disease: Abnormal cartilage collagen
Abnormal cartilage collagen 		disease 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia 		disease 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		disease 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C4025254
Disease: Absent styloid process of ulna
Absent styloid process of ulna 		disease 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C4025664
Disease: Abnormality of fibula morphology
Abnormality of fibula morphology 		disease 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		disease 0.100 None 0 0
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: C0019553
Disease: Hip Contracture
Hip Contracture 		disease 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0