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: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		disease 0.700 limited 1.000 0 0 2001 2019
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C0086543
Disease: Cataract
Cataract 		disease 0.100 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia 		disease 0.100 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		disease 0.100 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.400 None 1.000 0 0 2006 2006
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C0027092
Disease: Myopia
Myopia 		disease 0.400 None 1.000 0 0 2006 2006
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease 0.100 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C0410632
Disease: Schmorl's nodes
Schmorl's nodes 		disease 0.100 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		disease 0.100 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C1843486
Disease: Degenerative vitreoretinopathy
Degenerative vitreoretinopathy 		disease 0.100 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C4025050
Disease: Irregular distal femoral epiphysis
Irregular distal femoral epiphysis 		disease 0.100 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C0004106
Disease: Astigmatism
Astigmatism 		disease 0.100 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease 0.130 None 1.000 0 0 2000 2014
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		disease 0.100 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C4020825
Disease: Irregular capital femoral epiphysis
Irregular capital femoral epiphysis 		disease 0.100 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C4025676
Disease: Abnormality of the knee
Abnormality of the knee 		disease 0.100 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease 0.400 strong 1.000 0 0 2011 2011
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C0025995
Disease: Micromelia
Micromelia 		disease 0.100 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		disease 0.100 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease 0.100 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C4021599
Disease: Flat distal femoral epiphysis
Flat distal femoral epiphysis 		disease 0.100 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.100 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C1842155
Disease: Flat capital femoral epiphysis
Flat capital femoral epiphysis 		phenotype 0.100 None 0 0
Entrez Id: 1297
Gene Symbol: COL9A1
COL9A1 		collagen type IX alpha 1 chain 0.566 0.731 3.1E-19
CUI: C1846803
Disease: Small epiphyses
Small epiphyses 		phenotype 0.100 None 0 0