ADAMTS10, ADAM metallopeptidase with thrombospondin type 1 motif 10, 81794
N. diseases: 67; N. variants: 12
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.700 | GeneticVariation | GWASCAT | Leveraging Polygenic Functional Enrichment to Improve GWAS Power. | 30595370 | 2019 | |||||||
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0.700 | GeneticVariation | GWASCAT | Leveraging Polygenic Functional Enrichment to Improve GWAS Power. | 30595370 | 2019 | |||||||
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T | 0.700 | GeneticVariation | GWASCAT | A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome. | 30833571 | 2019 | ||||||
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T | 0.700 | GeneticVariation | GWASCAT | Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects. | 30664634 | 2019 | ||||||
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0.700 | GeneticVariation | GWASCAT | Leveraging Polygenic Functional Enrichment to Improve GWAS Power. | 30595370 | 2019 | |||||||
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T | 0.700 | GeneticVariation | GWASCAT | Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. | 30166351 | 2018 | ||||||
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T | 0.700 | GeneticVariation | GWASCAT | Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. | 28552196 | 2017 | ||||||
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G | 0.700 | GeneticVariation | GWASCAT | Many sequence variants affecting diversity of adult human height. | 18391951 | 2008 | ||||||
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G | 0.700 | GeneticVariation | GWASDB | Many sequence variants affecting diversity of adult human height. | 18391951 | 2008 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | Our results demonstrate that COMT Val158Met polymorphism is probably not associated with increased risk of PD, but has an effect on prefrontal executive function interacting with gender and dopaminergic medication. | 27653922 | 2016 | |||||||
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0.010 | GeneticVariation | BEFREE | The Gly661Arg variant in ADAMTS10 found in the POAG Beagles suggests that altered processing of extracellular matrix and/or defects in microfibril structure or function may be involved in raising intraocular pressure, offering specific biochemical targets for future research and treatment strategies. | 21379321 | 2011 | |||||||
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0.010 | GeneticVariation | BEFREE | The Gly661Arg variant in ADAMTS10 found in the POAG Beagles suggests that altered processing of extracellular matrix and/or defects in microfibril structure or function may be involved in raising intraocular pressure, offering specific biochemical targets for future research and treatment strategies. | 21379321 | 2011 | |||||||
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0.010 | GeneticVariation | BEFREE | We report the identification and functional analysis of the first missense ADAMTS10 mutation (c.73G>A; p.Ala25Thr) causing recessive Weill-Marchesani syndrome (WMS). | 18567016 | 2008 | |||||||
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0.010 | GeneticVariation | BEFREE | We report the identification and functional analysis of the first missense ADAMTS10 mutation (c.73G>A; p.Ala25Thr) causing recessive Weill-Marchesani syndrome (WMS). | 18567016 | 2008 | |||||||
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0.010 | GeneticVariation | BEFREE | A single-nucleotide polymorphism of the gene coding for catechol-O-methyltransferase (COMT Val(158)Met) is associated with prefrontal-dependent task performance in schizophrenia. | 16691129 | 2006 | |||||||
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0.010 | GeneticVariation | BEFREE | Unmedicated outpatients with schizotypal personality disorder (SPD; n = 67) and non-schizotypal personality disorder (NSPD; n = 154) by DSM-III-R, and normal control (NC; n = 60) participants were genotyped at the COMT Val(158)Met locus. | 16691129 | 2006 |