MATN3, matrilin 3, 4148

N. diseases: 79; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs52826764
rs52826764
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs77245812
rs77245812
Entrez Id: 4148;101928222
Gene Symbol: MATN3;LOC101928222
MATN3;LOC101928222
CUI: C0029408
Disease:
Degenerative polyarthritis 		0.010 GeneticVariation BEFREE The T303M polymorphism of the MATN3 gene, which was initially described as associated with hand osteoarthritis, may be more closely linked to trapeziometacarpal osteoarthritis than to digital osteoarthritis. 20971668 2011
dbSNP: rs104893645
rs104893645
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.810 GeneticVariation UNIPROT Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. 14729835 2004
dbSNP: rs104893645
rs104893645
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.810 GeneticVariation UNIPROT Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. 15459972 2004
dbSNP: rs104893645
rs104893645
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.810 GeneticVariation UNIPROT Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia. 15948199 2005
dbSNP: rs104893645
rs104893645
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.810 GeneticVariation BEFREE In order to dissect the role of XBP1 signalling in aggregation-related conditions we crossed a p.V194D Matn3 knock-in mouse model of EDM5 with a mouse line carrying a cartilage specific deletion of XBP1 and analysed the resulting phenotype. 31260448 2019
dbSNP: rs104893645
rs104893645
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		T 0.810 CausalMutation CLINVAR
dbSNP: rs104893645
rs104893645
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		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: rs104893645
rs104893645
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.810 GeneticVariation UNIPROT Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3. 16287128 2005
dbSNP: rs104893645
rs104893645
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.810 GeneticVariation UNIPROT Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. 12884427 2003
dbSNP: rs104893645
rs104893645
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.810 GeneticVariation UNIPROT Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. 11479597 2001
dbSNP: rs104893637
rs104893637
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104893637
rs104893637
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.800 GeneticVariation UNIPROT Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. 11479597 2001
dbSNP: rs104893637
rs104893637
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.800 GeneticVariation UNIPROT Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3. 16287128 2005
dbSNP: rs104893637
rs104893637
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.800 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: rs104893637
rs104893637
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.800 GeneticVariation UNIPROT Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. 15459972 2004
dbSNP: rs104893637
rs104893637
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.800 GeneticVariation UNIPROT Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. 12884427 2003
dbSNP: rs104893637
rs104893637
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.800 GeneticVariation UNIPROT Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia. 15948199 2005
dbSNP: rs104893637
rs104893637
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.800 GeneticVariation UNIPROT Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. 14729835 2004
dbSNP: rs104893640
rs104893640
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.800 GeneticVariation UNIPROT Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. 15459972 2004
dbSNP: rs104893640
rs104893640
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.800 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: rs104893640
rs104893640
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.800 GeneticVariation UNIPROT Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up. 12884427 2003
dbSNP: rs104893640
rs104893640
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104893640
rs104893640
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.800 GeneticVariation UNIPROT Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. 14729835 2004
dbSNP: rs104893640
rs104893640
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.800 GeneticVariation UNIPROT Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. 11479597 2001