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: C0221354
Disease: Frontal bossing
Frontal bossing
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
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: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung
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: C0271055
Disease: Rhegmatogenous retinal detachment
Rhegmatogenous retinal detachment
disease 0.120 None 1.000 0 0 2005 2016
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
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: C0003706
Disease: Arachnodactyly
Arachnodactyly
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: 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: 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: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease 0.130 None 1.000 0 0 2015 2017
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
Shortening of all proximal phalanges of the fingers
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: 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: C4025424
Disease: Abnormality of ulnar metaphysis
Abnormality of ulnar metaphysis
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: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
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: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers
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: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis
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: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity
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: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome
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: C0700635
Disease: Strudwick syndrome
Strudwick syndrome
disease 0.730 None 1.000 0 0 1989 2017
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: C0948187
Disease: Tracheomalacia
Tracheomalacia
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: 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: 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: C1306503
Disease: Congenital exomphalos
Congenital exomphalos
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: C0040583
Disease: Tracheal Stenosis
Tracheal Stenosis
disease 0.100 None 0 0