Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852655
rs137852655
COMP
0.810 GeneticVariation UNIPROT Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. 21922596

2012
dbSNP: rs137852655
rs137852655
COMP
0.810 GeneticVariation BEFREE The individuals with PSACH features presented the previously described G719D mutation in the C-terminal globular domain of the cartilage oligomeric matrix protein gene (COMP). 17394206

2007
dbSNP: rs137852655
rs137852655
COMP
0.810 GeneticVariation UNIPROT Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX. 11084047

2001
dbSNP: rs137852655
rs137852655
COMP
0.810 GeneticVariation UNIPROT Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. 11746045

2001
dbSNP: rs137852655
rs137852655
COMP
0.810 GeneticVariation UNIPROT Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia. 11746044

2001
dbSNP: rs137852655
rs137852655
COMP
0.810 GeneticVariation UNIPROT Cartilage oligomeric matrix protein is a calcium-binding protein, and a mutation in its type 3 repeats causes conformational changes. 10852928

2000
dbSNP: rs137852655
rs137852655
COMP
0.810 GeneticVariation UNIPROT Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia. 9921895

1998
dbSNP: rs137852655
rs137852655
COMP
0.810 GeneticVariation UNIPROT Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia. 9452026

1998
dbSNP: rs137852655
rs137852655
COMP
0.810 GeneticVariation UNIPROT Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. 9463320

1998
dbSNP: rs137852655
rs137852655
COMP
0.810 GeneticVariation UNIPROT Pseudoachondroplasia due to the substitution of the highly conserved Asp482 by Gly in the seventh calmodulin-like repeat of cartilage oligomeric matrix protein. 9452063

1998
dbSNP: rs137852655
rs137852655
COMP
0.810 GeneticVariation UNIPROT Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein. 9184241

1997
dbSNP: rs137852655
rs137852655
COMP
0.810 GeneticVariation UNIPROT Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. 7670471

1995
dbSNP: rs137852655
rs137852655
COMP
0.810 GeneticVariation UNIPROT Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. 7670472

1995
dbSNP: rs137852655
rs137852655
COMP
T 0.810 CausalMutation CLINVAR