Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1311
Gene Symbol: COMP
COMP 		0.740 GeneticVariation disease CLINVAR A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia. 27330822 2016
Entrez Id: 1311
Gene Symbol: COMP
COMP 		0.740 GeneticVariation disease 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
Entrez Id: 1311
Gene Symbol: COMP
COMP 		0.740 Biomarker disease GENOMICS_ENGLAND Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. 17133256 2007
Entrez Id: 1311
Gene Symbol: COMP
COMP 		0.740 GeneticVariation disease CLINVAR Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations. 15523498 2005
Entrez Id: 1311
Gene Symbol: COMP
COMP 		0.740 GeneticVariation disease BEFREE Familial mutations in type 3 repeats of COMP are known to cause pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (EDM1). 12819015 2003
Entrez Id: 1311
Gene Symbol: COMP
COMP 		0.740 Biomarker disease BEFREE Persistence of an unstructured state of the mutated Ca(2+) binding domain in COMP is the structural basis for retention of COMP in the rough endoplasmic reticulum of differentiated PSACH and EDM1 chondrocytes. 11782471 2002
Entrez Id: 1311
Gene Symbol: COMP
COMP 		0.740 GeneticVariation disease 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
Entrez Id: 1311
Gene Symbol: COMP
COMP 		0.740 GeneticVariation disease UNIPROT A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. 11565064 2001
Entrez Id: 1311
Gene Symbol: COMP
COMP 		0.740 GeneticVariation disease BEFREE Here, we report on nine novel mutations in COMP causing PSACH and EDM1. 10405447 1999
Entrez Id: 1311
Gene Symbol: COMP
COMP 		0.740 Biomarker disease CTD_human Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene. 9887340 1999
Entrez Id: 1311
Gene Symbol: COMP
COMP 		0.740 GeneticVariation disease UNIPROT Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. 9463320 1998
Entrez Id: 1311
Gene Symbol: COMP
COMP 		0.740 GeneticVariation disease BEFREE Two skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (EDM1) are caused by mutations in the calcium binding domains of COMP. 9923655 1998
Entrez Id: 1311
Gene Symbol: COMP
COMP 		0.740 GeneticVariation disease UNIPROT Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia. 9452026 1998
Entrez Id: 1311
Gene Symbol: COMP
COMP 		0.740 GeneticVariation disease UNIPROT Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia. 9921895 1998
Entrez Id: 1311
Gene Symbol: COMP
COMP 		0.740 Biomarker disease GENOMICS_ENGLAND Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family. 9021009 1997
Entrez Id: 1311
Gene Symbol: COMP
COMP 		0.740 GeneticVariation disease UNIPROT Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family. 9021009 1997
Entrez Id: 1311
Gene Symbol: COMP
COMP 		0.740 GeneticVariation disease UNIPROT Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein. 9184241 1997
Entrez Id: 1311
Gene Symbol: COMP
COMP 		0.740 Biomarker disease CTD_human Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. 7670472 1995
Entrez Id: 1311
Gene Symbol: COMP
COMP 		0.740 GeneticVariation disease UNIPROT Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. 7670472 1995
Entrez Id: 1311
Gene Symbol: COMP
COMP 		0.740 GeneticVariation disease CLINVAR Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. 7670472 1995
Entrez Id: 1311
Gene Symbol: COMP
COMP 		0.740 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1311
Gene Symbol: COMP
COMP 		0.740 CausalMutation disease CLINVAR