WDR1, WD repeat domain 1, 9948

N. diseases: 59; N. variants: 41
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.310 GeneticVariation phenotype BEFREE In this model, autoinflammation was caused by mutation in the actin regulatory gene WDR1 We report a homozygous missense mutation in WDR1 in two siblings causing periodic fevers with immunodeficiency and thrombocytopenia. 27994071 2017
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.310 Biomarker phenotype CTD_human Mutations in the cofilin partner Aip1/Wdr1 cause autoinflammatory disease and macrothrombocytopenia. 17515402 2007
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.300 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation
0.300 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation
0.300 Biomarker phenotype CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation
0.300 Biomarker phenotype CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0001787
Disease: Osteoporosis, Age-Related
Osteoporosis, Age-Related
0.300 Biomarker disease CTD_human Proteomic analysis of circulating monocytes in Chinese premenopausal females with extremely discordant bone mineral density. 18924182 2008
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.300 Biomarker disease CTD_human Proteomic analysis of circulating monocytes in Chinese premenopausal females with extremely discordant bone mineral density. 18924182 2008
CUI: C0029459
Disease: Osteoporosis, Senile
Osteoporosis, Senile
0.300 Biomarker disease CTD_human Proteomic analysis of circulating monocytes in Chinese premenopausal females with extremely discordant bone mineral density. 18924182 2008
CUI: C0751406
Disease: Post-Traumatic Osteoporosis
Post-Traumatic Osteoporosis
0.300 Biomarker disease CTD_human Proteomic analysis of circulating monocytes in Chinese premenopausal females with extremely discordant bone mineral density. 18924182 2008
CUI: C0021368
Disease: Inflammation
Inflammation
0.300 Biomarker phenotype CTD_human Mutations in the cofilin partner Aip1/Wdr1 cause autoinflammatory disease and macrothrombocytopenia. 17515402 2007
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.100 GeneticVariation phenotype GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
0.100 GeneticVariation disease GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
CUI: C0018099
Disease: Gout
Gout
0.100 GeneticVariation disease GWASDB Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 23263486 2013
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
0.100 GeneticVariation disease GWASDB Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. 21768215 2011
CUI: C0018099
Disease: Gout
Gout
0.100 GeneticVariation disease GWASDB Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. 21768215 2011
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
0.100 GeneticVariation disease GWASDB Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. 20884846 2010
CUI: C0018099
Disease: Gout
Gout
0.100 GeneticVariation disease GWASDB Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. 20884846 2010
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.100 GeneticVariation phenotype GWASDB Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. 19503597 2009
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.050 Biomarker disease BEFREE Approach and Results: We detected a normal AIP1 form (named AIP1A) in the healthy aorta, but a shorter form of AIP1 (named AIP1B) was found in diseased aortae that contained atherosclerotic plaques and graft arteriosclerosis. 31619063 2020
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.050 Biomarker disease BEFREE AIP1 Suppresses Transplant Arteriosclerosis Through Inhibition of Vascular Smooth Muscle Cell Inflammatory Response to IFNγ. 30471213 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.050 AlteredExpression disease BEFREE <b>Objective:</b> AIP1 expression is downregulated in human atherosclerotic plaques and global deletion of AIP1 in mice exacerbates atherosclerosis in ApoE-KO mouse models. 29731721 2018
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.050 Biomarker disease BEFREE AIP1-mediated stress signaling in atherosclerosis and arteriosclerosis. 25732743 2015
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.050 Biomarker disease BEFREE AIP1 prevents graft arteriosclerosis by inhibiting interferon-γ-dependent smooth muscle cell proliferation and intimal expansion. 21700930 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.040 Biomarker disease BEFREE Our data thus provide important and novel insights into MRTF-A-miR-206-WDR1 form feedback loop to regulate breast cancer cell migration. 28822708 2017