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: 1298
Gene Symbol: COL9A2
COL9A2 		collagen type IX alpha 2 chain 0.572 0.769 1.0E-08
CUI: C3280342
Disease: STICKLER SYNDROME, TYPE V
STICKLER SYNDROME, TYPE V 		disease 0.600 None 1.000 3 0 2002 2011
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		collagen type IX alpha 2 chain 0.572 0.769 1.0E-08
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		group 0.550 None 1.000 2 0 1999 2016
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		collagen type IX alpha 2 chain 0.572 0.769 1.0E-08
CUI: C1838429
Disease: Epiphyseal dysplasia, multiple, 2
Epiphyseal dysplasia, multiple, 2 		disease 0.500 None 1.000 3 0 2002 2011
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		collagen type IX alpha 2 chain 0.572 0.769 1.0E-08
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease 0.400 moderate 1.000 1 0 2011 2011
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		collagen type IX alpha 2 chain 0.572 0.769 1.0E-08
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		disease 0.400 strong 1.000 1 0 1998 2010
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		collagen type IX alpha 2 chain 0.572 0.769 1.0E-08
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		disease 0.320 moderate 1.000 1 0 2011 2013
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		collagen type IX alpha 2 chain 0.572 0.769 1.0E-08
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group 0.310 None 1.000 1 0 2002 2011
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		collagen type IX alpha 2 chain 0.572 0.769 1.0E-08
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 None 0 0
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		collagen type IX alpha 2 chain 0.572 0.769 1.0E-08
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group 0.300 limited 0 0
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		collagen type IX alpha 2 chain 0.572 0.769 1.0E-08
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.300 limited 0 0