Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 102465534
Gene Symbol: MIR6886
MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.100 GeneticVariation CLINVAR Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction. 26036859

2016

Entrez Id: 102465534
Gene Symbol: MIR6886
MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.100 GeneticVariation CLINVAR Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia. 25154303

2014

Entrez Id: 102465534
Gene Symbol: MIR6886
MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.100 CausalMutation CLINVAR Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia. 25154303

2014

Entrez Id: 102465534
Gene Symbol: MIR6886
MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.100 CausalMutation CLINVAR Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants. 22390909

2012

Entrez Id: 102465534
Gene Symbol: MIR6886
MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.100 CausalMutation CLINVAR Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes. 21475731

2011

Entrez Id: 102465534
Gene Symbol: MIR6886
MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.100 CausalMutation CLINVAR Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children. 21382890

2011

Entrez Id: 102465534
Gene Symbol: MIR6886
MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.100 CausalMutation CLINVAR Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations. 19411563

2009

Entrez Id: 102465534
Gene Symbol: MIR6886
MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.100 GeneticVariation CLINVAR Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform. 19318025

2009

Entrez Id: 102465534
Gene Symbol: MIR6886
MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.100 CausalMutation CLINVAR Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR. 15241806

2004

Entrez Id: 102465534
Gene Symbol: MIR6886
MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.100 GeneticVariation CLINVAR Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. 15199436

2004

Entrez Id: 102465534
Gene Symbol: MIR6886
MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.100 GeneticVariation CLINVAR Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia. 12436241

2002

Entrez Id: 102465534
Gene Symbol: MIR6886
MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.100 GeneticVariation CLINVAR Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort. 11857755

2002

Entrez Id: 102465534
Gene Symbol: MIR6886
MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.100 CausalMutation CLINVAR Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort. 11857755

2002

Entrez Id: 102465534
Gene Symbol: MIR6886
MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.100 CausalMutation CLINVAR Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis. 11668640

2001

Entrez Id: 102465534
Gene Symbol: MIR6886
MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.100 GeneticVariation CLINVAR Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis. 11668640

2001

Entrez Id: 102465534
Gene Symbol: MIR6886
MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.100 CausalMutation CLINVAR Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands. 10735632

2000

Entrez Id: 102465534
Gene Symbol: MIR6886
MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.100 CausalMutation CLINVAR Mutant transcripts of the LDL receptor gene: mRNA structure and quantity. 10090473

1999

Entrez Id: 102465534
Gene Symbol: MIR6886
MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.100 GeneticVariation CLINVAR Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics. 9254862

1997

Entrez Id: 102465534
Gene Symbol: MIR6886
MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.100 CausalMutation CLINVAR Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics. 9254862

1997

Entrez Id: 102465534
Gene Symbol: MIR6886
MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.100 CausalMutation CLINVAR Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism. 8872473

1996

Entrez Id: 102465534
Gene Symbol: MIR6886
MIR6886
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
0.100 GeneticVariation CLINVAR Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing. 7616128

1995