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: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1834954
Disease: Coronal cleft vertebrae
Coronal cleft vertebrae 		phenotype 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1846434
Disease: Hypoplastic scapulae
Hypoplastic scapulae 		phenotype 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1848654
Disease: Broad ribs
Broad ribs 		phenotype 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		phenotype 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis 		phenotype 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1854114
Disease: Short nose
Short nose 		phenotype 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1854912
Disease: Short long bone
Short long bone 		phenotype 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1854928
Disease: Protuberant abdomen
Protuberant abdomen 		phenotype 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1843108
Disease: Short palm
Short palm 		phenotype 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		phenotype 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1835121
Disease: Premature osteoarthritis
Premature osteoarthritis 		disease 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones 		phenotype 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1837082
Disease: Metaphyseal cupping
Metaphyseal cupping 		phenotype 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		phenotype 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		disease 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		phenotype 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1856599
Disease: Beaking of vertebral bodies
Beaking of vertebral bodies 		phenotype 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1856786
Disease: Hypoplastic fingernail
Hypoplastic fingernail 		phenotype 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype 0.100 None 0 0