Gene: WDR72

Alternate names for this Gene: AI2A3

Gene Summary: This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 15

Location in Chromosome : 15q21.3

Description of this Gene: WD repeat domain 72

Type of Gene: protein-coding

rs143816093 in WDR72 gene and Amelogenesis Imperfecta, Hypomaturation Type, Iia3 PMID 19853237 2009 Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.

PMID 30028003 2018 Distal renal tubular acidosis caused by tryptophan-aspartate repeat domain 72 (WDR72) mutations.

rs17730281 in WDR72 gene and Blood urea nitrogen measurement PMID 22797727 2012 Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.

PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs8037775 in WDR72 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs7495833 in WDR72 gene and Chloride measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs491567 in WDR72 gene and Chronic Kidney Diseases PMID 20383146 2010 New loci associated with kidney function and chronic kidney disease.

PMID 22479191 2012 Genome-wide association and functional follow-up reveals new loci for kidney function.

rs10518732 in WDR72 gene and Creatinine measurement, serum (procedure) PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

PMID 20383146 2010 New loci associated with kidney function and chronic kidney disease.

PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

rs1906436 in WDR72 gene and Diabetes PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

rs1906436 in WDR72 gene and Diabetes Mellitus PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

rs1031755 in WDR72 gene and Glomerular Filtration Rate PMID 27588450 2016 Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

PMID 30604766 2019 Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

rs35258188 in WDR72 gene and Hyperuricemia PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

rs17730281 in WDR72 gene and Kidney Failure, Chronic PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

PMID 20383146 2010 New loci associated with kidney function and chronic kidney disease.

PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

rs7495833 in WDR72 gene and Potassium measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs3081219 in WDR72 gene and Proliferative diabetic retinopathy PMID 31482010 2019 Genome-wide association study for proliferative diabetic retinopathy in Africans.

rs1376457227 in WDR72 gene and RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder) PMID 30028003 2018 Distal renal tubular acidosis caused by tryptophan-aspartate repeat domain 72 (WDR72) mutations.

rs475377 in WDR72 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11853370 in WDR72 gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.

rs35487869 in WDR72 gene and Sodium measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs35258188 in WDR72 gene and Uric acid measurement (procedure) PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.