COMP, cartilage oligomeric matrix protein, 1311

N. diseases: 230; N. variants: 31
Disease: Epiphyseal dysplasia, multiple, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852652
rs137852652
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C1838280
Disease:
Epiphyseal dysplasia, multiple, 1 		0.700 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: rs137852652
rs137852652
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C1838280
Disease:
Epiphyseal dysplasia, multiple, 1 		0.700 GeneticVariation UNIPROT A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. 11565064 2001
dbSNP: rs137852652
rs137852652
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C1838280
Disease:
Epiphyseal dysplasia, multiple, 1 		0.700 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: rs137852652
rs137852652
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C1838280
Disease:
Epiphyseal dysplasia, multiple, 1 		0.700 GeneticVariation UNIPROT Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. 9463320 1998
dbSNP: rs137852652
rs137852652
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C1838280
Disease:
Epiphyseal dysplasia, multiple, 1 		0.700 GeneticVariation UNIPROT Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia. 9452026 1998
dbSNP: rs137852652
rs137852652
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C1838280
Disease:
Epiphyseal dysplasia, multiple, 1 		0.700 GeneticVariation UNIPROT Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia. 9921895 1998
dbSNP: rs137852652
rs137852652
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C1838280
Disease:
Epiphyseal dysplasia, multiple, 1 		0.700 GeneticVariation UNIPROT Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein. 9184241 1997
dbSNP: rs137852652
rs137852652
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C1838280
Disease:
Epiphyseal dysplasia, multiple, 1 		0.700 GeneticVariation UNIPROT Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family. 9021009 1997
dbSNP: rs137852652
rs137852652
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C1838280
Disease:
Epiphyseal dysplasia, multiple, 1 		0.700 GeneticVariation UNIPROT Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. 7670472 1995