Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024312
Disease: Lymphopenia
Lymphopenia
0.010 GeneticVariation disease BEFREE We identified a missense mutation (c. 3178C>T; p.R1060C) in POLD1 in 3 related subjects who presented with recurrent, especially herpetic, infections and T-cell lymphopenia with impaired T-cell but not B-cell proliferation. 31629014 2020
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder
0.010 GeneticVariation group BEFREE We sought to establish the role of DNA polymerase δ1 catalytic subunit (POLD1) as the cause of a primary immunodeficiency in an extended kindred. 31629014 2020
CUI: C1274233
Disease: T-lymphocyte immunodeficiency
T-lymphocyte immunodeficiency
0.010 Biomarker disease BEFREE These results identify gene defects in POLD1 as a novel cause of T-cell immunodeficiency. 31629014 2020
CUI: C0014378
Disease: Enterovirus Infections
Enterovirus Infections
0.010 GeneticVariation group BEFREE In the fall of 2014, an outbreak of enterovirus D68 (EV-D68)-associated acute respiratory illness (ARI) occurred in the United States (1,2); before 2014, EV-D68 was rarely reported to CDC (2,3). 30921299 2019
CUI: C0019158
Disease: Hepatitis
Hepatitis
0.010 Biomarker group BEFREE In steady state conditions human liver LN contain relatively low numbers of cDC2, PDC, and macrophages, and relative numbers of cDC1 in liver LN decline during liver inflammation. 30930897 2019
CUI: C0025064
Disease: Mediastinitis
Mediastinitis
0.010 Biomarker disease BEFREE Between July 2010 and July 2016, poststernotomy patients with DSWI and mediastinitis underwent a secondary wound closure with modified BPMMF (Group A, center for disease control class (CDC)-II, n = 21; Group B, CDC-III, n = 20) or with OF (Group C, CDC-III, n = 19) following vacuum-assisted closure (VAC). 30404980 2019
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
0.010 AlteredExpression disease BEFREE MB-MSCs combined with BSTCR improved the ovarian function of epirubicin induced POF mice, which might be related to the inhibition of GADD45b expression and the promotion of CyclinB1 and CDC2 expressions. 31311554 2019
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.010 AlteredExpression disease BEFREE MB-MSCs combined with BSTCR improved the ovarian function of epirubicin induced POF mice, which might be related to the inhibition of GADD45b expression and the promotion of CyclinB1 and CDC2 expressions. 31311554 2019
CUI: C0085270
Disease: Orbital Pseudotumor
Orbital Pseudotumor
0.010 Biomarker disease BEFREE cDC2 and plasmacytoid dendritic cells diminish from tissues of patients with non-Hodgkin orbital lymphoma and idiopathic orbital inflammation. 31841217 2019
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome
0.010 AlteredExpression disease BEFREE <b>Conclusions:</b> The decreased expression of miR-130a and miR-708 in pSS cDC2s seems to reflect cell activation. miR-130a targets MSK1, which regulates pro-inflammatory cytokine production, and we provide proof-of-concept for MSK1-inhibition as a therapeutic avenue to impede cDC2 activity in pSS. 31281310 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 Biomarker disease BEFREE VERU-111 arrested the cell cycle in the G2/M phase and induced apoptosis in PanCa cell lines via modulation of cell cycle regulatory (Cdc2, Cdc25c, and Cyclin B1) and apoptosis - associated (Bax, Bad, Bcl-2, and Bcl-xl) proteins. 30674344 2019
CUI: C0271333
Disease: Orbital lymphoma
Orbital lymphoma
0.010 Biomarker disease BEFREE cDC2 and plasmacytoid dendritic cells diminish from tissues of patients with non-Hodgkin orbital lymphoma and idiopathic orbital inflammation. 31841217 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.010 AlteredExpression disease BEFREE The cognitive impairment in AD patients and SAMP8 mice was associated with reduced POLD1 expression. 30978525 2019
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.010 Biomarker disease BEFREE VERU-111 arrested the cell cycle in the G2/M phase and induced apoptosis in PanCa cell lines via modulation of cell cycle regulatory (Cdc2, Cdc25c, and Cyclin B1) and apoptosis - associated (Bax, Bad, Bcl-2, and Bcl-xl) proteins. 30674344 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.010 AlteredExpression group BEFREE POLD1 expression levels were evaluated in patients with different neurodegenerative diseases by ELISA, RT-PCR and Western blot analysis. 30978525 2019
CUI: C1527390
Disease: Neoplasms, Intracranial
Neoplasms, Intracranial
0.010 Biomarker group BEFREE We further show that inhibition of the splicing regulatory cdc2-like kinases in combination with an ERR-β agonist shifts isoform expression in favor of ERR-β2 and potentiates inhibition of growth and migration in GBM cells and intracranial tumors.-Tiek, D. M., Khatib, S. A., Trepicchio, C. J., Heckler, M. M., Divekar, S. D., Sarkaria, J. N., Glasgow, E., Riggins, R. B. Estrogen-related receptor β activation and isoform shifting by cdc2-like kinase inhibition restricts migration and intracranial tumor growth in glioblastoma. 31570001 2019
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
Alzheimer disease, familial, type 3
0.010 Biomarker disease BEFREE POLD1 deficiency is involved in cognitive function impairment in AD patients and SAMP8 mice. 30978525 2019
Mullerian Aplasia and Hyperandrogenism
0.010 Biomarker disease BEFREE Increased cDC2 numbers due to CD11c-restricted Wnt4 deficiency increased IL-5 production, group 2 innate lymphoid cell expansion, and host resistance to the hookworm parasite <i>Nippostrongylus brasiliensis</i> Collectively, these data uncover a novel and unexpected role for Wnt4 in cDC subset differentiation and type 2 immunity. 31175162 2019
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.010 AlteredExpression disease BEFREE Additionally, POLD1 and MCM2 were found to be regulated by miR-520H via E2F1.High expression of POLD1, MCM2, and PLK4 might play positive roles in the recurrence of ALL, and could serve as potential therapeutic targets for the treatment of relapsed ALL. 29768346 2018
Childhood Acute Lymphoblastic Leukemia
0.010 AlteredExpression disease BEFREE Additionally, POLD1 and MCM2 were found to be regulated by miR-520H via E2F1.High expression of POLD1, MCM2, and PLK4 might play positive roles in the recurrence of ALL, and could serve as potential therapeutic targets for the treatment of relapsed ALL. 29768346 2018
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.010 AlteredExpression disease BEFREE Real-time PCR and confocal microscopy revealed that epicardial EPO treatment enhanced levels of intracardiac regenerative key indicators (SDF-1, CXCR4, CD34, Bcl-2, cyclin D1, Cdc2 and MMP2), induced transforming growth factor β (TGF-β)/WNT signaling in intramyocardial MSC niches through the direct activation of AKT and upregulation of upstream signals FOS and Fzd7, and augmented intracardiac mesenchymal proliferation 24 h after MI. 29752300 2018
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.010 AlteredExpression disease BEFREE The increase of the tumor-node-metastasis (TNM) staging of osteosarcoma and the high expression of CDC2 are the risk factors affecting the prognosis of osteosarcoma patients (P<0.05), and Cox regression analysis showed that the expression level of CDC2 was a risk factor affecting the prognosis of osteosarcoma patients (P<0.05). 29731906 2018
CUI: C0262985
Disease: Psoriasiform eczema
Psoriasiform eczema
0.010 Biomarker disease BEFREE Functionally, CD301b<sup>+</sup> cDC2 was capable of producing a high level of IL-23, and the depletion of CD301b<sup>+</sup> cDC2 effectively prevented IL-17-mediated psoriasiform dermatitis. 29138056 2018
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
Pleomorphic Xanthoastrocytoma
0.010 GeneticVariation disease BEFREE In post-hoc subgroup analysis, hypermutator tumors (mismatch repair deficiency and somatic POLE/POLD1 mutations) and those biologically resembling pleomorphic xanthoastrocytoma ([PXA]-like, driven by BRAF_V600E or NF1 mutation) had significantly more CD8<sup>+</sup> tumor-infiltrating lymphocytes, and longer survival with the addition of BEV. 29763623 2018
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
0.010 GeneticVariation disease BEFREE A new form of mandibuloacral dysplasia has been recently associated with mutations in POLD1 gene, encoding DNA polymerase delta, a major player in DNA replication. 29208544 2018