rs104893639
MATN3;LOC101928222
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related
0.700
GeneticVariation
UNIPROT
Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD.
15121775
2004
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
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
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
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
rs104893645
×
Entrez Id:
4148
Gene Symbol:
MATN3
MATN3
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
T
0.810
CausalMutation
CLINVAR
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
A
0.800
CausalMutation
CLINVAR
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
rs104893637
×
Entrez Id:
4148
Gene Symbol:
MATN3
MATN3
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
rs104893640
×
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
rs104893640
×
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
rs104893640
×
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