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: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.010 Biomarker disease BEFREE Stathmin (active BS vs inactive BS; fourfold, active BS vs healthy control; 4.7-fold) and WD repeat-containing protein-1 (active BS vs inactive BS; 2.7-fold, active BS vs healthy control; 2.7-fold), which are cytoskeleton-related proteins, were found to be lower in active patients compared to inactive patients and healthy control. 31414226 2020
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 Biomarker disease BEFREE Mechanically, our data suggested WDR1 regulated tumor cells proliferation and migration might through actin cytoskeleton-mediated regulation of YAP, and we demonstrated that WDR1 contributes to NSCLC progression through ADF/cofilin-mediated actin disassembly. 29989053 2018
CUI: C0024312
Disease: Lymphopenia
Lymphopenia
0.010 Biomarker disease BEFREE WDR1 deficiency was associated with even more severe abnormalities of the B-cell compartment, including peripheral B-cell lymphopenia, paucity of B-cell progenitors in the bone marrow, lack of switched memory B cells, reduced clonal diversity, abnormal B-cell spreading, and increased apoptosis on B-cell receptor/Toll-like receptor stimulation. 29751004 2018
CUI: C0035243
Disease: Respiratory Tract Infections
Respiratory Tract Infections
0.010 GeneticVariation group BEFREE Here we identified novel homozygous and compound heterozygous WDR1 missense mutations in 6 patients belonging to 3 kindreds who presented with respiratory tract infections, skin ulceration, and stomatitis. 29751004 2018
CUI: C0038362
Disease: Stomatitis
Stomatitis
0.010 GeneticVariation disease BEFREE Here we identified novel homozygous and compound heterozygous WDR1 missense mutations in 6 patients belonging to 3 kindreds who presented with respiratory tract infections, skin ulceration, and stomatitis. 29751004 2018
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
0.010 Biomarker group BEFREE However, the direct role of AIP1 in endothelium, vascular remodeling and associated vascular diseases has not been determined. 29731721 2018
Squamous cell carcinoma of esophagus
0.010 Biomarker disease BEFREE AIP1 could be a promising biomarker for predicting ESCC prognosis and a potential target for anti-angiogenic therapy. 30464518 2018
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome
0.010 GeneticVariation disease BEFREE Biallelic WDR1 mutations have been identified recently in an immunodeficiency/autoinflammatory syndrome with aberrant morphology and function of myeloid cells. 29751004 2018
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.010 GeneticVariation disease BEFREE By screening a peptoid library using surface plasmon resonance imaging, amyloid inhibitory peptoid 1 (AIP1) that has high affinity to Aβ42 is identified. 27714968 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 Biomarker disease BEFREE Hookworm recombinant AIP-1 is a novel therapeutic candidate for the treatment of inflammatory bowel diseases that can be explored for the prevention of acute inflammatory relapses, an important cause of colorectal cancer. 29114386 2017
CUI: C0015967
Disease: Fever
Fever
0.010 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: C0017638
Disease: Glioma
Glioma
0.010 GeneticVariation disease BEFREE Four novel glioma susceptibility genes were identified with internal and external validation, including DRD5 (P = 3.0 × 10-79), WDR1 (P = 8.4 × 10-77), NOMO1 (P = 1.3 × 10-25), and PDXDC1 (P = 8.3 × 10-24). 28339748 2017
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.010 Biomarker group BEFREE Hookworm recombinant AIP-1 is a novel therapeutic candidate for the treatment of inflammatory bowel diseases that can be explored for the prevention of acute inflammatory relapses, an important cause of colorectal cancer. 29114386 2017
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.010 Biomarker disease BEFREE Finally, 3 patients with AIP1 were diagnosed with cholangiocellular carcinoma (CCC).<i>Conclusion</i>. 28348580 2017
CUI: C0232197
Disease: Fibrillation
Fibrillation
0.010 Biomarker disease BEFREE AIP1 is demonstrated to inhibit Aβ42 oligomerization and fibrillation and to rescue Aβ42-induced cytotoxicity through decreasing the content of Aβ42 oligomers that is related to cell membrane permeability. 27714968 2017
CUI: C1707444
Disease: Columnar Cell Change of the Breast
Columnar Cell Change of the Breast
0.010 GeneticVariation phenotype BEFREE Finally, 3 patients with AIP1 were diagnosed with cholangiocellular carcinoma (CCC).<i>Conclusion</i>. 28348580 2017
Malignant neoplasm of colon and/or rectum
0.010 Biomarker disease BEFREE Hookworm recombinant AIP-1 is a novel therapeutic candidate for the treatment of inflammatory bowel diseases that can be explored for the prevention of acute inflammatory relapses, an important cause of colorectal cancer. 29114386 2017
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome
0.010 Biomarker disease BEFREE In contrast, WDR1 overexpression reversed the WDR1 KD phenotype of megakaryocytes and PLPs. 27609643 2016
Qualitative abnormality of granulocyte
0.010 Biomarker disease BEFREE Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency. 27557945 2016
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma
0.010 AlteredExpression disease BEFREE WD repeat domain 1 (WDR1), a protein that assists cofilin-mediated actin filament disassembly, is overexpressed in the invading front of invasive ductal carcinoma (IDC), but its implication of overexpression and how to be regulated have not been studied. 27521604 2016
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
0.010 Biomarker disease BEFREE In contrast, WDR1 overexpression reversed the WDR1 KD phenotype of megakaryocytes and PLPs. 27609643 2016
CUI: C0010709
Disease: Cyst
Cyst
0.010 Biomarker disease BEFREE Moreover, loss of Aip1 impaired the apico-basal polarity of intestinal epithelial cell monolayers and inhibited formation of polarized epithelial cysts in 3-D Matrigel. 25792565 2015
CUI: C0025202
Disease: melanoma
melanoma
0.010 GeneticVariation disease BEFREE We show that a global or vascular endothelial cell (EC)-specific deletion of the AIP1 gene in mice augments tumor growth and metastasis in melanoma and breast cancer models. 26139244 2015
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.010 AlteredExpression phenotype BEFREE AIP1 Expression in Tumor Niche Suppresses Tumor Progression and Metastasis. 26139244 2015
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.010 Biomarker disease BEFREE Although further replication studies are critical to confirming these findings, these results illustrate how genetic associations for nonsyndromic CP can be missed if potential GxE interaction is not taken into account, and this study suggest SLC2A9 and WDR1 should be considered as candidate genes for CP. 24516586 2014