rs104893645
×
Entrez Id:
4148
Gene Symbol:
MATN3
MATN3
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
rs77245812
MATN3;LOC101928222
Osteoarthritis of the hand
0.020
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
rs77245812
MATN3;LOC101928222
Osteoarthritis of the hand
0.020
GeneticVariation
BEFREE
The originally described association of T303M with the hand osteoarthritis phenotype was not observed in the populations studied.
16396979
2006
rs104893645
×
Entrez Id:
4148
Gene Symbol:
MATN3
MATN3
Multiple Epiphyseal Dysplasia
0.010
GeneticVariation
BEFREE
Mutant matrilin-3 (V194D ) forms non-native disulphide bonded aggregates in the rER of chondrocytes from cell and mouse models of multiple epiphyseal dysplasia (MED ).
23956175
2013
rs77245812
MATN3;LOC101928222
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
rs77245812
MATN3;LOC101928222
Intervertebral Disc Degeneration
0.010
GeneticVariation
BEFREE
In the Rotterdam sample, however, carrying the T allele of T303M conferred an odds ratio of 2.9 (95% confidence interval (CI), 1.2 to 7.3; p = 0.02) for spinal disc degeneration .
16396979
2006
rs104893645
×
Entrez Id:
4148
Gene Symbol:
MATN3
MATN3
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
T
0.810
CausalMutation
CLINVAR
rs104893637
×
Entrez Id:
4148
Gene Symbol:
MATN3
MATN3
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
A
0.800
CausalMutation
CLINVAR
rs104893640
×
Entrez Id:
4148
Gene Symbol:
MATN3
MATN3
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
T
0.800
CausalMutation
CLINVAR
rs104893641
×
Entrez Id:
4148
Gene Symbol:
MATN3
MATN3
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
G
0.800
CausalMutation
CLINVAR
rs28939677
×
Entrez Id:
4148
Gene Symbol:
MATN3
MATN3
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
T
0.800
CausalMutation
CLINVAR
rs52826764
×
Entrez Id:
4148
Gene Symbol:
MATN3
MATN3
Body Height
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs104893645
×
Entrez Id:
4148
Gene Symbol:
MATN3
MATN3
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
rs104893645
×
Entrez Id:
4148
Gene Symbol:
MATN3
MATN3
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
rs104893645
×
Entrez Id:
4148
Gene Symbol:
MATN3
MATN3
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
rs104893645
×
Entrez Id:
4148
Gene Symbol:
MATN3
MATN3
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
rs104893645
×
Entrez Id:
4148
Gene Symbol:
MATN3
MATN3
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
rs104893645
×
Entrez Id:
4148
Gene Symbol:
MATN3
MATN3
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
rs104893645
×
Entrez Id:
4148
Gene Symbol:
MATN3
MATN3
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
rs104893637
×
Entrez Id:
4148
Gene Symbol:
MATN3
MATN3
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
rs104893637
×
Entrez Id:
4148
Gene Symbol:
MATN3
MATN3
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
rs104893637
×
Entrez Id:
4148
Gene Symbol:
MATN3
MATN3
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
rs104893637
×
Entrez Id:
4148
Gene Symbol:
MATN3
MATN3
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
rs104893637
×
Entrez Id:
4148
Gene Symbol:
MATN3
MATN3
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
rs104893637
×
Entrez Id:
4148
Gene Symbol:
MATN3
MATN3
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