Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C2748544
Disease: Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Aggrecan Type 		0.700 Biomarker GENOMICS_ENGLAND Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. 27870580

2017
Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C2748544
Disease: Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Aggrecan Type 		0.700 GermlineCausalMutation ORPHANET A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. 19110214

2009
Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C2748544
Disease: Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Aggrecan Type 		0.700 GeneticVariation UNIPROT A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. 19110214

2009
Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C2748544
Disease: Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Aggrecan Type 		0.700 Biomarker CTD_human

Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C2748544
Disease: Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Aggrecan Type 		0.700 CausalMutation CLINVAR

Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C2748544
Disease: Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Aggrecan Type 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C2748544
Disease: Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Aggrecan Type 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C1842149
Disease: Spondyloepiphyseal Dysplasia, Kimberley Type
Spondyloepiphyseal Dysplasia, Kimberley Type 		0.610 Biomarker GENOMICS_ENGLAND Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. 27870580

2017
Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C1842149
Disease: Spondyloepiphyseal Dysplasia, Kimberley Type
Spondyloepiphyseal Dysplasia, Kimberley Type 		0.610 GeneticVariation 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
CUI: C3665488
Disease: Familial Osteochondritis Dissecans
Familial Osteochondritis Dissecans 		0.610 Biomarker GENOMICS_ENGLAND Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. 27870580

2017
Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C1842149
Disease: Spondyloepiphyseal Dysplasia, Kimberley Type
Spondyloepiphyseal Dysplasia, Kimberley Type 		0.610 Biomarker 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
CUI: C3665488
Disease: Familial Osteochondritis Dissecans
Familial Osteochondritis Dissecans 		0.610 GermlineCausalMutation ORPHANET Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. 24762113

2014
Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C3665488
Disease: Familial Osteochondritis Dissecans
Familial Osteochondritis Dissecans 		0.610 Biomarker 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
CUI: C3665488
Disease: Familial Osteochondritis Dissecans
Familial Osteochondritis Dissecans 		0.610 GeneticVariation UNIPROT Our results provide a molecular mechanism for the etiology of familial osteochondritis dissecans and show the importance of the aggrecan C-type lectin interactions for cartilage function in vivo. 20137779

2010
Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C3665488
Disease: Familial Osteochondritis Dissecans
Familial Osteochondritis Dissecans 		0.610 GermlineCausalMutation ORPHANET Our results provide a molecular mechanism for the etiology of familial osteochondritis dissecans and show the importance of the aggrecan C-type lectin interactions for cartilage function in vivo. 20137779

2010
Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C3665488
Disease: Familial Osteochondritis Dissecans
Familial Osteochondritis Dissecans 		0.610 GeneticVariation BEFREE Our results provide a molecular mechanism for the etiology of familial osteochondritis dissecans and show the importance of the aggrecan C-type lectin interactions for cartilage function in vivo. 20137779

2010
Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C1842149
Disease: Spondyloepiphyseal Dysplasia, Kimberley Type
Spondyloepiphyseal Dysplasia, Kimberley Type 		0.610 GermlineCausalMutation 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
CUI: C1842149
Disease: Spondyloepiphyseal Dysplasia, Kimberley Type
Spondyloepiphyseal Dysplasia, Kimberley Type 		0.610 Biomarker CTD_human

Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C1842149
Disease: Spondyloepiphyseal Dysplasia, Kimberley Type
Spondyloepiphyseal Dysplasia, Kimberley Type 		0.610 Biomarker GENOMICS_ENGLAND

Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C1842149
Disease: Spondyloepiphyseal Dysplasia, Kimberley Type
Spondyloepiphyseal Dysplasia, Kimberley Type 		0.610 Biomarker GENOMICS_ENGLAND

Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C3665488
Disease: Familial Osteochondritis Dissecans
Familial Osteochondritis Dissecans 		0.610 Biomarker GENOMICS_ENGLAND

Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C3665488
Disease: Familial Osteochondritis Dissecans
Familial Osteochondritis Dissecans 		0.610 Biomarker CTD_human

Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C3665488
Disease: Familial Osteochondritis Dissecans
Familial Osteochondritis Dissecans 		0.610 Biomarker GENOMICS_ENGLAND

Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.400 GeneticVariation BEFREE High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature. 31841439

2020
Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.400 Biomarker BEFREE Consequently, aggrecan-specific T cells and antibodies are potentially relevant markers that could be used to monitor patients with RA or at-risk subjects. 30390384

2019