Source: ALL

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: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C0265289
Disease: Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Schmid type 		disease 0.950 None 1.000 17 16 1994 2019
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 limited 0 0
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		disease 0.210 None 1.000 2 0 2011 2012
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C0410606
Disease: Cervical Disc Degenerative Disorder
Cervical Disc Degenerative Disorder 		disease 0.200 None 1.000 1 0 2011 2011
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C0265290
Disease: Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia 		disease 0.180 None 1.000 8 1 1996 2018
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C0231712
Disease: Waddling gait
Waddling gait 		phenotype 0.120 None 1.000 2 0 1996 2005
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease 0.110 None 1.000 2 2 2011 2013
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C0239399
Disease: Short extremities
Short extremities 		phenotype 0.110 None 1.000 1 0 2018 2018
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease 0.100 None 1.000 10 1 2010 2018
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C0027092
Disease: Myopia
Myopia 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C0544755
Disease: Genu varum
Genu varum 		phenotype 0.100 None 0 0
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		phenotype 0.100 None 0 0
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		phenotype 0.100 None 0 0
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C1835473
Disease: Diaphyseal thickening
Diaphyseal thickening 		phenotype 0.100 None 0 0
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease 0.100 None 0 0
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C0239138
Disease: Hip joint varus deformity - observation
Hip joint varus deformity - observation 		phenotype 0.100 None 0 0
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C1834980
Disease: Metaphyseal cupping of proximal phalanges
Metaphyseal cupping of proximal phalanges 		phenotype 0.100 None 0 0
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C1834975
Disease: Irregular acetabular roof
Irregular acetabular roof 		phenotype 0.100 None 0 0
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype 0.100 None 0 0
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease 0.100 None 0 0
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype 0.100 None 0 0
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C4021598
Disease: Distal tibial bowing
Distal tibial bowing 		disease 0.100 None 0 0
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		collagen type X alpha 1 chain 0.619 0.500 3.0E-05
CUI: C4021383
Disease: Broad middle phalanx of finger
Broad middle phalanx of finger 		disease 0.100 None 0 0