COMP, cartilage oligomeric matrix protein, 1311

N. diseases: 230; N. variants: 31
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852650
rs137852650
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		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
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		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
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		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: rs137852650
rs137852650
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		0.810 GeneticVariation BEFREE Pathological accumulation of COMP in rER and apoptosis in COS7 cells that were induced by the mutation (D472Y) in COMP imply that COMP mutations play a role in the pathogenesis of PSACH. 12819015 2003
dbSNP: rs137852650
rs137852650
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		0.810 GeneticVariation UNIPROT Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia. 11746044 2001
dbSNP: rs137852650
rs137852650
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		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: rs137852650
rs137852650
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		0.810 GeneticVariation UNIPROT Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. 11746045 2001
dbSNP: rs137852655
rs137852655
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		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
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		0.810 GeneticVariation UNIPROT Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. 11746045 2001
dbSNP: rs137852655
rs137852655
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		0.810 GeneticVariation UNIPROT Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia. 11746044 2001
dbSNP: rs137852650
rs137852650
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		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
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		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: rs137852650
rs137852650
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		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: rs137852650
rs137852650
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		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: rs137852650
rs137852650
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		0.810 GeneticVariation UNIPROT Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia. 9452026 1998
dbSNP: rs137852650
rs137852650
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		0.810 GeneticVariation UNIPROT Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia. 9921895 1998
dbSNP: rs137852655
rs137852655
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		0.810 GeneticVariation UNIPROT Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia. 9921895 1998
dbSNP: rs137852655
rs137852655
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		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
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		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
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		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: rs137852650
rs137852650
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		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
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		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: rs137852650
rs137852650
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		0.810 GeneticVariation UNIPROT Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. 7670471 1995
dbSNP: rs137852650
rs137852650
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		0.810 GeneticVariation UNIPROT Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. 7670472 1995
dbSNP: rs137852655
rs137852655
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C0410538
Disease:
Pseudoachondroplasia 		0.810 GeneticVariation UNIPROT Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. 7670471 1995