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: 176
Gene Symbol: ACAN
ACAN 		aggrecan 0.528 0.846 1.00
CUI: C2748544
Disease: Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Aggrecan Type 		disease 0.700 None 1.000 1 0 2009 2017
Entrez Id: 176
Gene Symbol: ACAN
ACAN 		aggrecan 0.528 0.846 1.00
CUI: C1842149
Disease: Spondyloepiphyseal Dysplasia, Kimberley Type
Spondyloepiphyseal Dysplasia, Kimberley Type 		disease 0.610 None 1.000 2 0 2005 2017
Entrez Id: 176
Gene Symbol: ACAN
ACAN 		aggrecan 0.528 0.846 1.00
CUI: C3665488
Disease: Familial Osteochondritis Dissecans
Familial Osteochondritis Dissecans 		disease 0.610 None 1.000 2 0 2010 2017
Entrez Id: 176
Gene Symbol: ACAN
ACAN 		aggrecan 0.528 0.846 1.00
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype 0.300 limited 0 0