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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.110 None 1.000 0 0 2011 2011
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia 		disease 0.110 None 1.000 0 0 2004 2004
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		disease 0.110 None 1.000 0 0 2000 2000
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 0 2003 2003
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0027543
Disease: Avascular necrosis of bone
Avascular necrosis of bone 		phenotype 0.110 None 1.000 0 0 2008 2008
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C0456909
Disease: Blindness
Blindness 		phenotype 0.110 None 1.000 0 0 2000 2000
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: C1857101
Disease: Anisospondyly
Anisospondyly 		phenotype 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: C1856912
Disease: Shortening of all middle phalanges of the fingers
Shortening of all middle phalanges of the fingers 		phenotype 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: C1862102
Disease: BRACHYDACTYLY, TYPE E1
BRACHYDACTYLY, TYPE E1 		phenotype 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: C1856599
Disease: Beaking of vertebral bodies
Beaking of vertebral bodies 		phenotype 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: C1863739
Disease: Narrow femoral neck
Narrow femoral neck 		phenotype 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: C1865014
Disease: Long philtrum
Long philtrum 		phenotype 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: C1865027
Disease: Hypoplastic iliac wing
Hypoplastic iliac wing 		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: C1855665
Disease: Ovoid vertebral bodies
Ovoid vertebral bodies 		phenotype 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: C1865030
Disease: Hypoplastic pubic bone
Hypoplastic pubic bone 		phenotype 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: C1859111
Disease: Enlarged joints
Enlarged joints 		phenotype 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: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		phenotype 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: C1859447
Disease: Hypoplastic ischia
Hypoplastic ischia 		phenotype 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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 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: C1859480
Disease: Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped epiphyses of the phalanges of the hand 		phenotype 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: C1858085
Disease: Malar flattening
Malar flattening 		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: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		phenotype 0.100 None 0 0