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: rs104893645
rs104893645
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		T 0.810 CausalMutation CLINVAR
dbSNP: rs104893637
rs104893637
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		A 0.800 CausalMutation CLINVAR
dbSNP: rs104893640
rs104893640
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104893641
rs104893641
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		G 0.800 CausalMutation CLINVAR
dbSNP: rs28939677
rs28939677
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		T 0.800 CausalMutation CLINVAR
dbSNP: rs182164052
rs182164052
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.700 GeneticVariation UNIPROT
dbSNP: rs749845872
rs749845872
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.700 GeneticVariation UNIPROT
dbSNP: rs779413744
rs779413744
Entrez Id: 4148
Gene Symbol: MATN3
MATN3
CUI: C1846843
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 		0.700 GeneticVariation UNIPROT
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: 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: 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: 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: 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: 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: rs773642745
rs773642745
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: 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: rs77245812
rs77245812
Entrez Id: 4148;101928222
Gene Symbol: MATN3;LOC101928222
MATN3;LOC101928222
CUI: C0158266
Disease:
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
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: 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: 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 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 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 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 Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. 14729835 2004
dbSNP: rs773642745
rs773642745
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