Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 176
Gene Symbol: ACAN
ACAN
0.610 Biomarker disease GENOMICS_ENGLAND Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. 27870580 2017
Entrez Id: 176
Gene Symbol: ACAN
ACAN
0.610 GeneticVariation disease BEFREE Pathogenic variants of ACAN have been reported to cause spondyloepiphyseal dysplasia Kimberley type, spondyloepimetaphyseal dysplasia, familial osteochondritis dissecans and idiopathic short stature with normal to advanced bone age. 28396070 2017
Entrez Id: 176
Gene Symbol: ACAN
ACAN
0.610 Biomarker disease GENOMICS_ENGLAND Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. 24762113 2014
Entrez Id: 176
Gene Symbol: ACAN
ACAN
0.610 GermlineCausalMutation disease ORPHANET A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. 16080123 2005
Entrez Id: 176
Gene Symbol: ACAN
ACAN
0.610 Biomarker disease CTD_human
Entrez Id: 176
Gene Symbol: ACAN
ACAN
0.610 Biomarker disease GENOMICS_ENGLAND