present in Gene: ACAN
present in Chromosome: 15
Position on Chromosome: 88858712
Alleles of this Variant: G/A;T
rs267604368 in
ACAN gene and
Dysmorphic features
PMID 12205105 2002 Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene.
PMID 17317784 2007 Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants.
PMID 12626230 2003 Osteoarthritis of the hands, hips and knees in an Australian twin sample--evidence of association with the aggrecan VNTR polymorphism.
PMID 16080123 2005 A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis.
PMID 20137779 2010 A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans.
PMID 18226555 2008 Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature.
PMID 19110214 2009 A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.
PMID 27870580 2017 Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.
PMID 1978986 1990 Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen.
PMID 21948754 2011 Short aggrecan gene repetitive alleles associated with lumbar degenerative disc disease in Turkish patients.
PMID 24762113 2014 Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.
rs267604368 in
ACAN gene and
Multiple congenital anomalies
PMID 12626230 2003 Osteoarthritis of the hands, hips and knees in an Australian twin sample--evidence of association with the aggrecan VNTR polymorphism.
PMID 21948754 2011 Short aggrecan gene repetitive alleles associated with lumbar degenerative disc disease in Turkish patients.
PMID 20137779 2010 A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans.
PMID 19110214 2009 A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.
PMID 17317784 2007 Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants.
PMID 24762113 2014 Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.
PMID 27870580 2017 Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.
PMID 18226555 2008 Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature.
PMID 16080123 2005 A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis.
PMID 12205105 2002 Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene.
PMID 1978986 1990 Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen.