Source: GENOMICS_ENGLAND

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: 1299
Gene Symbol: COL9A3
COL9A3 		collagen type IX alpha 3 chain 0.569 0.769 3.3E-12
CUI: C1832998
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 3
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3 		disease 0.700 None 1.000 3 0 1999 2014
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3 		collagen type IX alpha 3 chain 0.569 0.769 3.3E-12
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		group 0.550 None 0.800 0 0 2004 2018
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3 		collagen type IX alpha 3 chain 0.569 0.769 3.3E-12
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		disease 0.400 strong 0.929 1 0 1999 2014
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3 		collagen type IX alpha 3 chain 0.569 0.769 3.3E-12
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease 0.400 None 0 0
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3 		collagen type IX alpha 3 chain 0.569 0.769 3.3E-12
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		disease 0.330 strong 1.000 1 0 2014 2019
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3 		collagen type IX alpha 3 chain 0.569 0.769 3.3E-12
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group 0.300 None 1.000 1 0 2005 2005
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3 		collagen type IX alpha 3 chain 0.569 0.769 3.3E-12
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 None 0 0
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3 		collagen type IX alpha 3 chain 0.569 0.769 3.3E-12
CUI: C3501899
Disease: Epiphyseal Dysplasia, Multiple, with Myopathy
Epiphyseal Dysplasia, Multiple, with Myopathy 		disease 0.300 None 0 0