COMP, cartilage oligomeric matrix protein, 1311

N. diseases: 230; N. variants: 31
Disease: Epiphyseal dysplasia, multiple, 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		0.740 GeneticVariation disease CLINVAR A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia. 27330822 2016
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		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
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		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
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		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
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		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
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		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
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		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
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		0.740 GeneticVariation disease UNIPROT A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. 11565064 2001
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		0.740 GeneticVariation disease BEFREE Here, we report on nine novel mutations in COMP causing PSACH and EDM1. 10405447 1999
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		0.740 Biomarker disease CTD_human Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene. 9887340 1999
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		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
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		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
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		0.740 GeneticVariation disease UNIPROT Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia. 9452026 1998
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		0.740 GeneticVariation disease UNIPROT Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia. 9921895 1998
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		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
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		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
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		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
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		0.740 Biomarker disease CTD_human Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. 7670472 1995
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		0.740 GeneticVariation disease UNIPROT Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. 7670472 1995
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		0.740 GeneticVariation disease CLINVAR Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. 7670472 1995
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		0.740 CausalMutation disease CLINVAR