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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 13 3 1990 2016
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 1 11 1989 2020
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: C0796173
Disease: Spondyloperipheral dysplasia short ulna
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: 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: C0014084
Disease: Enchondromatosis
Enchondromatosis 		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: C0265998
Disease: ANONYCHIA
ANONYCHIA 		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: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.140 None 0.750 0 1 2003 2012
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
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: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		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: 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: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		disease 0.130 None 1.000 0 1 2015 2017
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.110 None 1.000 0 1 2003 2003
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		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: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone 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: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		disease 0.410 None 1.000 0 1 1993 1993
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		disease 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus 		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: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		disease 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		disease 0.110 None 1.000 0 0 2003 2003
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C4021681
Disease: Short distal phalanx of the 3rd finger
Short distal phalanx of the 3rd 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: C0035313
Disease: Retinal Dysplasia
Retinal 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: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		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: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		disease 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C4025089
Disease: Shortening of all proximal phalanges of the fingers
Shortening of all proximal phalanges of the fingers 		disease 0.100 None 0 0