COL9A1, collagen type IX alpha 1 chain, 1297

N. diseases: 116; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		0.700 GeneticVariation disease BEFREE However, the clinical spectrum of patients with COL9A1 variants can also include multiple epiphyseal dysplasia, as well as non-syndromic HL that was observed in one previously reported proband. 31315069 2019
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		0.700 GeneticVariation disease BEFREE PSACH and the largest proportion of autosomal dominant MED (AD-MED) results from mutations in cartilage oligomeric matrix protein (COMP); however, AD-MED is genetically heterogenous and can also result from mutations in matrilin-3 (MATN3) and type IX collagen (COL9A1, COL9A2, and COL9A3). 21922596 2012
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		0.700 GeneticVariation disease BEFREE TSP-5 is of interest because mutations in the gene cause two skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED/EDM1). 18193163 2008
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		0.700 GeneticVariation disease BEFREE Mutations in cartilage oligomeric matrix protein (COMP) cause two skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED/EDM1). 17200202 2007
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		0.700 GeneticVariation disease BEFREE We describe a Japanese family with an autosomal dominant multiple epiphyseal dysplasia (MED EDM2) showing significant phenotypic diversity among the five affected members. 16440132 2006
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		0.700 Biomarker disease GENOMICS_ENGLAND Six genes involved in MED, COMP, MATN3, COL9A1, COL9A2, COL9A3, and DTDST have been identified; however, the presence of additional disease genes has been reported, and the detection rate for mutations in known genes accounts for no more than 50% of patients with MED in Western populations. 16691584 2006
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		0.700 GeneticVariation disease BEFREE Over 70 mutations in the cartilage oligomeric matrix protein (COMP), a large extracellular pentameric glycoprotein synthesized by chondrocytes, have been identified as causing two skeletal dysplasias: multiple epiphyseal dysplasia (MED/EDM1), and a dwarfing condition, pseudoachondroplasia (PSACH). 16514635 2006
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		0.700 Biomarker disease CTD_human A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. 16909383 2006
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		0.700 GeneticVariation disease BEFREE More than 60 unique COMP mutations have been identified as causing two skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED/EDM1). 15694129 2005
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		0.700 GeneticVariation disease BEFREE Mutations in the COMP gene cause two dominantly inherited skeletal dysplasias, pseudoachondroplasia (PSACH) and Multiple Epiphyseal Dysplasia (MED/EDM1). 15183431 2004
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		0.700 GeneticVariation disease BEFREE Our study provides evidence that at least another locus, distinct from COL9A1, is involved in autosomal dominant MED. 11528506 2001
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		0.700 Biomarker disease CTD_human Recombination was observed between COL9A1, COL9A2, COL9A3, and COMP and the MED phenotype in two of the families, and between COL9A2, COL9A3, and COMP and the phenotype in the other two families. 11565064 2001
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		0.700 GeneticVariation disease BEFREE Mutations causing MED have now been identified in five other genes (COL9A1, COL9A2, COL9A3, DTDST, and MATN3), making MED one of the most genetically heterogeneous disorders. 11891674 2001
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		0.700 GeneticVariation disease BEFREE A genomewide screen of family with autosomal-dominant MED not linked to the EDM1-3 genes provides significant genetic evidence for a MED locus on the short arm of chromosome 2 (2p24-p23), and a search for candidate genes identified MATN3 (ref. 11479597 2001
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		0.700 GeneticVariation disease BEFREE The results show that mutations in COL9A1 can cause MED, but they also suggest that mutations in COL9A1, COL9A2, COL9A3, COMP, and DTDST are not the major causes of MED and that there exists at least one additional locus. 11565064 2001
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		0.700 Biomarker disease HPO
CUI: C3279941
Disease: STICKLER SYNDROME, TYPE IV
STICKLER SYNDROME, TYPE IV 		0.600 Biomarker disease GENOMICS_ENGLAND Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population. 16691584 2006
CUI: C3279941
Disease: STICKLER SYNDROME, TYPE IV
STICKLER SYNDROME, TYPE IV 		0.600 Biomarker disease GENOMICS_ENGLAND A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. 11565064 2001
CUI: C3279941
Disease: STICKLER SYNDROME, TYPE IV
STICKLER SYNDROME, TYPE IV 		0.600 CausalMutation disease CLINVAR
CUI: C3279941
Disease: STICKLER SYNDROME, TYPE IV
STICKLER SYNDROME, TYPE IV 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3279941
Disease: STICKLER SYNDROME, TYPE IV
STICKLER SYNDROME, TYPE IV 		0.600 Biomarker disease CTD_human
CUI: C2675767
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6
EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 		0.500 Biomarker disease GENOMICS_ENGLAND Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population. 16691584 2006
CUI: C2675767
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6
EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 		0.500 Biomarker disease GENOMICS_ENGLAND A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. 11565064 2001
CUI: C2675767
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6
EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C2675767
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6
EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 		0.500 Biomarker disease CTD_human