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: rs104893640
rs104893640
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: rs104893640
rs104893640
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: rs104893641
rs104893641
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: rs104893641
rs104893641
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: rs104893641
rs104893641
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: rs104893641
rs104893641
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: rs104893641
rs104893641
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: rs104893641
rs104893641
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		G 0.800 CausalMutation CLINVAR
dbSNP: rs104893641
rs104893641
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: rs104893641
rs104893641
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: rs28939677
rs28939677
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: rs28939677
rs28939677
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: rs28939677
rs28939677
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: rs28939677
rs28939677
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		T 0.800 CausalMutation CLINVAR
dbSNP: rs28939677
rs28939677
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: rs28939677
rs28939677
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: rs28939677
rs28939677
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: rs28939677
rs28939677
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: rs182164052
rs182164052
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.700 GeneticVariation UNIPROT
dbSNP: rs397515546
rs397515546
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.700 GeneticVariation UNIPROT Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. 14729835 2004
dbSNP: rs397515546
rs397515546
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.700 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: rs397515546
rs397515546
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.700 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: rs397515546
rs397515546
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.700 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: rs397515546
rs397515546
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.700 GeneticVariation UNIPROT Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3. 16287128 2005
dbSNP: rs397515546
rs397515546
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.700 GeneticVariation UNIPROT Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. 15459972 2004