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: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1856786
Disease: Hypoplastic fingernail
Hypoplastic fingernail 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1858091
Disease: Long fingers
Long fingers 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1858452
Disease: Thickened calvaria
Thickened calvaria 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1859399
Disease: Radial bowing
Radial bowing 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1859447
Disease: Hypoplastic ischia
Hypoplastic ischia 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1859461
Disease: Femoral bowing
Femoral bowing 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1859682
Disease: Hypoplastic frontal sinuses
Hypoplastic frontal sinuses 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1861218
Disease: Hypoplastic ilia
Hypoplastic ilia 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1865847
Disease: Ulnar bowing
Ulnar bowing 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		disease 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0740852
Disease: Upper airway obstruction
Upper airway obstruction 		disease 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0025995
Disease: Micromelia
Micromelia 		disease 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0026034
Disease: Microstomia
Microstomia 		disease 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		disease 0.100 None 0 0
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group 0.100 None 0 0