Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893645
rs104893645
MATN3
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
MATN3
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
MATN3
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
MATN3
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
MATN3
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
MATN3
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
MATN3
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
MATN3
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: rs104893645
rs104893645
MATN3
T 0.810 CausalMutation CLINVAR

dbSNP: rs104893637
rs104893637
MATN3
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
MATN3
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: rs104893641
rs104893641
MATN3
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: rs28939677
rs28939677
MATN3
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
MATN3
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
MATN3
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: rs104893640
rs104893640
MATN3
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: rs104893640
rs104893640
MATN3
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: rs104893641
rs104893641
MATN3
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: rs104893641
rs104893641
MATN3
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: rs28939677
rs28939677
MATN3
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: rs28939677
rs28939677
MATN3
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
MATN3
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
MATN3
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
MATN3
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
MATN3
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