MIR3606, microRNA 3606, 100500837

N. diseases: 1; N. variants: 42
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518075
rs1057518075
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0162871
Disease:
Aortic Aneurysm, Abdominal 		0.010 GeneticVariation BEFREE In familial AAA we found one pathogenic and segregating variant (COL3A1 p.Arg491X), one likely pathogenic and segregating (MYH11 p.Arg254Cys), and fifteen VUS. 26017485 2015
dbSNP: rs1553507863
rs1553507863
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		G 0.700 GeneticVariation CLINVAR The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 28349240 2017
dbSNP: rs397509370
rs397509370
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		A 0.700 CausalMutation CLINVAR Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes. 27306637 2016
dbSNP: rs1060500194
rs1060500194
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		C 0.700 GeneticVariation CLINVAR The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. 25758994 2015
dbSNP: rs1559056621
rs1559056621
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		A 0.700 CausalMutation CLINVAR The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. 25758994 2015
dbSNP: rs587779692
rs587779692
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		A 0.700 CausalMutation CLINVAR The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. 25758994 2015
dbSNP: rs1060500194
rs1060500194
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		C 0.700 GeneticVariation CLINVAR Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 24922459 2014
dbSNP: rs1559056621
rs1559056621
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		A 0.700 CausalMutation CLINVAR Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 24922459 2014
dbSNP: rs397509370
rs397509370
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		A 0.700 CausalMutation CLINVAR Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome. 24399159 2014
dbSNP: rs397509370
rs397509370
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		A 0.700 CausalMutation CLINVAR Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 24922459 2014
dbSNP: rs587779692
rs587779692
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		A 0.700 CausalMutation CLINVAR Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 24922459 2014
dbSNP: rs587779702
rs587779702
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		A 0.700 CausalMutation CLINVAR Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 24922459 2014
dbSNP: rs587779692
rs587779692
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		A 0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
dbSNP: rs1060500194
rs1060500194
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		C 0.700 GeneticVariation CLINVAR Collagen structure and stability. 19344236 2009
dbSNP: rs1559056621
rs1559056621
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		A 0.700 CausalMutation CLINVAR Collagen structure and stability. 19344236 2009
dbSNP: rs587779692
rs587779692
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		A 0.700 CausalMutation CLINVAR Collagen structure and stability. 19344236 2009
dbSNP: rs1559056621
rs1559056621
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		A 0.700 CausalMutation CLINVAR Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. 10706896 2000
dbSNP: rs1060500194
rs1060500194
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		C 0.700 GeneticVariation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699 1994
dbSNP: rs1559056621
rs1559056621
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		A 0.700 CausalMutation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699 1994
dbSNP: rs587779692
rs587779692
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		A 0.700 CausalMutation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699 1994
dbSNP: rs1060500194
rs1060500194
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		C 0.700 GeneticVariation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237 1993
dbSNP: rs1559056621
rs1559056621
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		A 0.700 CausalMutation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237 1993
dbSNP: rs587779692
rs587779692
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		A 0.700 CausalMutation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237 1993
dbSNP: rs397509370
rs397509370
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		A 0.700 CausalMutation CLINVAR Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV. 2349939 1990
dbSNP: rs1057524653
rs1057524653
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		A 0.700 GeneticVariation CLINVAR