×
Entrez Id:
176
Gene Symbol:
ACAN
ACAN
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.
27870580
2017
×
Entrez Id:
176
Gene Symbol:
ACAN
ACAN
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.
24762113
2014
×
Entrez Id:
176
Gene Symbol:
ACAN
ACAN
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Short aggrecan gene repetitive alleles associated with lumbar degenerative disc disease in Turkish patients.
21948754
2011
×
Entrez Id:
176
Gene Symbol:
ACAN
ACAN
Dysmorphic features
0.100
GeneticVariation
CLINVAR
A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans.
20137779
2010
×
Entrez Id:
176
Gene Symbol:
ACAN
ACAN
Dysmorphic features
0.100
GeneticVariation
CLINVAR
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
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature.
18226555
2008
×
Entrez Id:
176
Gene Symbol:
ACAN
ACAN
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants.
17317784
2007
×
Entrez Id:
176
Gene Symbol:
ACAN
ACAN
Dysmorphic features
0.100
GeneticVariation
CLINVAR
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
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Osteoarthritis of the hands, hips and knees in an Australian twin sample--evidence of association with the aggrecan VNTR polymorphism.
12626230
2003
×
Entrez Id:
176
Gene Symbol:
ACAN
ACAN
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene.
12205105
2002
×
Entrez Id:
176
Gene Symbol:
ACAN
ACAN
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen.
1978986
1990