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: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		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: C1846449
Disease: Irregular epiphyses
Irregular epiphyses 		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: C1844704
Disease: Platyspondyly
Platyspondyly 		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: 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: 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: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		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: C1837352
Disease: Childhood onset
Childhood onset 		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: 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: 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: C1846803
Disease: Small epiphyses
Small epiphyses 		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: C1853241
Disease: Flat face
Flat face 		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: 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: 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: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		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: 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: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		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: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		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: 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: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		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: C0575081
Disease: Gait abnormality
Gait abnormality 		group 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: C0544755
Disease: Genu varum
Genu varum 		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: C0003862
Disease: Arthralgia
Arthralgia 		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: 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: 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: C4020825
Disease: Irregular capital femoral epiphysis
Irregular capital femoral epiphysis 		disease 0.100 None 0 0