Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267604368
rs267604368
ACAN
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. 27870580

2017
dbSNP: rs267604368
rs267604368
ACAN
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. 24762113

2014
dbSNP: rs267604368
rs267604368
ACAN
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Short aggrecan gene repetitive alleles associated with lumbar degenerative disc disease in Turkish patients. 21948754

2011
dbSNP: rs267604368
rs267604368
ACAN
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans. 20137779

2010
dbSNP: rs267604368
rs267604368
ACAN
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. 19110214

2009
dbSNP: rs267604368
rs267604368
ACAN
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature. 18226555

2008
dbSNP: rs267604368
rs267604368
ACAN
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 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
dbSNP: rs267604368
rs267604368
ACAN
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 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
dbSNP: rs267604368
rs267604368
ACAN
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Osteoarthritis of the hands, hips and knees in an Australian twin sample--evidence of association with the aggrecan VNTR polymorphism. 12626230

2003
dbSNP: rs267604368
rs267604368
ACAN
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 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
dbSNP: rs267604368
rs267604368
ACAN
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen. 1978986

1990