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: C0008925
Disease: Cleft Palate
Cleft Palate
disease 0.410 strong 1.000 0 0 2003 2003
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia
disease 0.400 None 1.000 0 0 2009 2009
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease 0.150 None 1.000 0 0 2013 2019
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.120 None 1.000 0 0 2012 2014
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0271183
Disease: Severe myopia
Severe myopia
disease 0.120 None 1.000 0 0 2011 2018
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
collagen type XI alpha 1 chain 0.495 0.846 1.00
Sensorineural Hearing Loss (disorder)
disease 0.110 None 1.000 0 0 2020 2020
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C0027092
Disease: Myopia
Myopia
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
collagen type XI alpha 1 chain 0.495 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: 1301
Gene Symbol: COL11A1
COL11A1
collagen type XI alpha 1 chain 0.495 0.846 1.00
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
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: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
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: C1848654
Disease: Broad ribs
Broad ribs
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: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
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: C1853241
Disease: Flat face
Flat face
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: C1853242
Disease: Midface retrusion
Midface retrusion
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: C1854114
Disease: Short nose
Short nose
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: C1854912
Disease: Short long bone
Short long bone
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: C1854928
Disease: Protuberant abdomen
Protuberant abdomen
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: C1855669
Disease: Absent frontal sinuses
Absent 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: C1856778
Disease: Widely patent coronal suture
Widely patent coronal suture
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: C1856779
Disease: Widely patent sagittal suture
Widely patent sagittal suture
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: C1832119
Disease: Fibular hypoplasia
Fibular hypoplasia
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: C1846434
Disease: Hypoplastic scapulae
Hypoplastic scapulae
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
Macrodontia of permanent maxillary central incisor
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: C1835101
Disease: Wide tufts of distal phalanges
Wide tufts of distal phalanges
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: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype 0.100 None 0 0