Varaico: Literature-Extracted Genetic Variants

Gene:ALDH16A1
Variant:p.P527R
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ALDH16A1

NM_153329.4:p.P527R

Associated Papers

The pathogenesis of gout: molecular insights from genetic, epigenomic and transcriptomic studies.

Leask MP et al.

Nature Reviews. Rheumatology, 2024

Imputation-powered whole-exome analysis identifies genes associated with kidney function and disease in the UK Biobank.

Wuttke M et al.

Nature Communications, 2023

36890159 (PubMed )
Supplement: 41467_2023_36864_MOESM1_ESM.pdf

FinnGen provides genetic insights from a well-phenotyped isolated population.

Kurki MI et al.

Nature, 2023

36653562 (PubMed )
Supplement: 41586_2022_5473_MOESM4_ESM.xlsx › Supplementary_Table_11

Genetic associations of protein-coding variants in human disease.

Sun BB et al.

Nature, 2022

Annotation of 1350 Common Genetic Variants of the 19 ALDH Multigene Family from Global Human Genome Aggregation Database (gnomAD).

Chen CH et al.

Biomolecules, 2021

Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels.

Tin A et al.

Nature Communications, 2018

30315176 (PubMed )
Supplement: 41467_2018_6620_MOESM3_ESM.pdf

Replication of Gout/Urate Concentrations GWAS Susceptibility Loci Associated with Gout in a Han Chinese Population.

Li Z et al.

Scientific Reports, 2017

28642574 (PubMed )
Supplement: 41598_2017_4127_MOESM1_ESM.doc

The genetics of gout: towards personalised medicine?

Dalbeth N et al.

Bmc Medicine, 2017

Network analysis of mitonuclear GWAS reveals functional networks and tissue expression profiles of disease-associated genes.

Johnson SC et al.

Human Genetics, 2017

27704213 (PubMed )
Supplement: 439_2016_1736_MOESM5_ESM.xlsx › All_Mitonuclear_Associations

Genome-wide association analysis identifies three new risk loci for gout arthritis in Han Chinese.

Li C et al.

Nature Communications, 2015

25967671 (PubMed )
Supplement: ncomms8041-s2.xls › Sheet1

Single amino acid polymorphism in aldehyde dehydrogenase gene superfamily.

Priyadharshini Christy J et al.

Frontiers in Bioscience (landmark Edition), 2015

How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.

Middha S et al.

Frontiers in Genetics, 2015

26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2

ALDH16A1 is a novel non-catalytic enzyme that may be involved in the etiology of gout via protein-protein interactions with HPRT1.

Vasiliou V et al.

Chemico-biological Interactions, 2013

Blindly using Wald's test can miss rare disease-causal variants in case-control association studies.

Xing G et al.

Annals of Human Genetics, 2012

Identification of low-frequency variants associated with gout and serum uric acid levels.

Sulem P et al.

Nature Genetics, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."