NofPmids
float64 1
96
⌀ | NofSnps
float64 0
1.07k
⌀ | associationType
stringclasses 3
values | diseaseId
stringlengths 8
12
| diseaseName
stringclasses 587
values | diseaseType
stringclasses 3
values | disease_mention
stringlengths 1
89
| geneId
stringlengths 1
30
| geneSymbol
stringlengths 2
10
⌀ | gene_mention
stringlengths 2
69
| originalSource
stringclasses 1
value | pmid
int64 104k
28.2M
| raw_sentence
stringlengths 39
1.09k
| score
float64 0.2
1
⌀ | sentence
stringlengths 143
948
⌀ | source
stringclasses 9
values |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
9 | 0 | Therapeutic | C0034065 | Pulmonary Embolism | disease | Pulmonary Embolism | 5327 | PLAT | Alteplase | CTD_human | 9,199,818 | Fibrinogenolysis and thrombin generation after reduced dose bolus or conventional rt-PA for pulmonary embolism. The Coagulation Project Investigators of the Bolus Alteplase Pulmonary Embolism Group. | 0.200275 | Fibrinogenolysis and thrombin generation after reduced dose bolus or conventional rt-PA for <span class="disease" id="9199818-0-92-110">pulmonary embolism</span>. The Coagulation Project Investigators of the Bolus <span class="gene" id="9199818-0-163-172">Alteplase</span> <span class="disease" id="9199818-0-173-191">Pulmonary Embolism</span> Group. | CTD_human |
null | null | Negative | MESH:D030342 | null | null | autosomal dominant disorder | 79813 | null | euchromatic histone methyltransferase-1 | null | 28,057,753 | 610253), also known as 9q34 deletion syndrome, is an autosomal dominant disorder caused by haploinsufficiency of euchromatic histone methyltransferase-1 (EHMT1). | null | null | null |
1 | 0 | Biomarker | C0020459 | Hyperinsulinism | disease | hyperinsulinemia | 79661 | NEIL1 | neil1 | CTD_human | 16,446,448 | In the absence of exogenous oxidative stress, neil1 knockout (neil1-/-) and heterozygotic (neil1+/-) mice develop severe obesity, dyslipidemia, and fatty liver disease and also have a tendency to develop hyperinsulinemia. | 0.2 | In the absence of exogenous oxidative stress, <span class="gene" id="16446448-6-46-51">neil1</span> knockout (<span class="gene" id="16446448-6-62-67">neil1</span>-/-) and heterozygotic (<span class="gene" id="16446448-6-91-96">neil1</span>+/-) mice develop severe obesity, dyslipidemia, and fatty liver disease and also have a tendency to develop <span class="disease" id="16446448-6-204-220">hyperinsulinemia</span>. | CTD_human |
null | null | Negative | MESH:D001523 | null | null | depressive-like behaviors | 299638 | null | SIRT6 | null | 28,130,175 | Hence, Western blotting and RT-qPCR were used to investigate whether SIRTs (SIRT1-7) expression levels were altered in the hippocampus of rats, which followed 5 weeks of chronic unpredictable mild stress (CUMS) treatment, the results showed depressive-like behaviors: like body weight, forced swim test and sucrose preference test and SIRT6 was a significant increase in the hippocampal of CUMS rats. | null | null | null |
2 | 0 | Biomarker | C0027627 | Neoplasm Metastasis | phenotype | metastasized | 5743 | PTGS2 | COX-2 | CTD_human | 16,489,006 | In a nude mouse model of bone metastasis, the MDA-MB-231 human breast cancer cells showed no COX-2 expression at orthotopic sites, whereas these cells, when metastasized to bone, intensely expressed COX-2, suggesting that the bone microenvironment induced COX-2 expression. | 0.270064 | In a nude mouse model of bone metastasis, the MDA-MB-231 human breast cancer cells showed no <span class="gene" id="16489006-5-93-98">COX-2</span> expression at orthotopic sites, whereas these cells, when <span class="disease" id="16489006-5-157-169">metastasized</span> to bone, intensely expressed <span class="gene" id="16489006-5-199-204">COX-2</span>, suggesting that the bone microenvironment induced <span class="gene" id="16489006-5-256-261">COX-2</span> expression. | CTD_human |
null | null | Negative | MESH:D064420 | null | null | Cytotoxicity | 13649 | null | EGFR | null | 28,138,237 | Cytotoxicity of the (111)In-labeled MNTs was evaluated on cancer cell lines bearing the appropriate receptor target (FR: HeLa, SK-OV-3; EGFR: A431, U87MG.wtEGFR; and MC1R: B16-F1). | null | null | null |
4 | 0 | Biomarker | C0036341 | Schizophrenia | disease | schizophrenia | 207 | AKT1 | AKT1 | CTD_human | 21,187,413 | DRD2/AKT1 interaction on D2 c-AMP independent signaling, attentional processing, and response to olanzapine treatment in schizophrenia. | 0.334586 | DRD2/<span class="gene" id="21187413-0-5-9">AKT1</span> interaction on D2 c-AMP independent signaling, attentional processing, and response to olanzapine treatment in <span class="disease" id="21187413-0-121-134">schizophrenia</span>. | CTD_human |
6 | 10 | Biomarker | C0393590 | Fahr's syndrome (disorder) | disease | familial idiopathic basal ganglia calcification | 6575 | SLC20A2 | SLC20A2 | CTD_human | 22,327,515 | Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. | 0.681923 | Mutations in <span class="gene" id="22327515-0-13-20">SLC20A2</span> link <span class="disease" id="22327515-0-26-73">familial idiopathic basal ganglia calcification</span> with phosphate homeostasis. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D016553 | null | null | ITP | 16016 | null | IgG2b | null | 28,028,748 | The predominant anti-platelet autoantibody subclasses in the ITP mice were Th1-associated IgG2a and IgG2b. | null | null | null |
2 | 0 | Biomarker | C0004364 | Autoimmune Diseases | group | autoimmunity | 3458 | IFNG | IFN-gamma | CTD_human | 9,647,229 | To further define their roles in systemic autoimmunity, IL-4 and IFN-gamma gene knockout mice were studied for susceptibility to the prototypic Th2-mediated mercury-induced autoimmunity. | 0.215254 | To further define their roles in systemic <span class="disease" id="9647229-2-42-54">autoimmunity</span>, IL-4 and <span class="gene" id="9647229-2-65-74">IFN-gamma</span> gene knockout mice were studied for susceptibility to the prototypic Th2-mediated mercury-induced <span class="disease" id="9647229-2-173-185">autoimmunity</span>. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 944940 | null | b=0.258 | null | 28,038,892 | RESULTS: Poor sleep quality (PSQI global score) was associated with greater pro-inflammatory cytokine levels: interleukin-1b (IL-1b) (b=0.258, p=0.043), IL-6 (b=0.281, p=0.033), and tumor necrosis factor-alpha (TNF-a) (b=0.263, p=0.044). | null | null | null |
1 | 0 | Biomarker | C0025149 | Medulloblastoma | disease | medulloblastoma | 5294 | PIK3CG | PI3K | CTD_human | 21,652,733 | A sensitized RNA interference screen identifies a novel role for the PI3K p110? isoform in medulloblastoma cell proliferation and chemoresistance. | 0.202473 | A sensitized RNA interference screen identifies a novel role for the <span class="gene" id="21652733-0-69-73">PI3K</span> p110γ isoform in <span class="disease" id="21652733-0-91-106">medulloblastoma</span> cell proliferation and chemoresistance. | CTD_human |
1 | 0 | Biomarker | C1458155 | Mammary Neoplasms | group | breast tumours | 6422 | SFRP1 | SFRP1 | CTD_human | 18,283,316 | In the present study, we found frequent methylation of SFRP family genes in breast cancer cell lines (SFRP1, 7 out of 11, 64%; SFRP2, 11 out of 11, 100%; SFRP5, 10 out of 11, 91%) and primary breast tumours (SFRP1, 31 out of 78, 40%; SFRP2, 60 out of 78, 77%; SFRP5, 55 out of 78, 71%). | 0.21258 | In the present study, we found frequent methylation of SFRP family genes in breast cancer cell lines (<span class="gene" id="18283316-3-102-107">SFRP1</span>, 7 out of 11, 64%; SFRP2, 11 out of 11, 100%; SFRP5, 10 out of 11, 91%) and primary <span class="disease" id="18283316-3-192-206">breast tumours</span> (<span class="gene" id="18283316-3-208-213">SFRP1</span>, 31 out of 78, 40%; SFRP2, 60 out of 78, 77%; SFRP5, 55 out of 78, 71%). | CTD_human |
4 | 6 | Biomarker | C0038868 | Progressive supranuclear palsy | disease | progressive supranuclear palsy | 4137 | MAPT | MAPT | CTD_human | 12,325,083 | MAPT, the gene encoding tau, was screened for mutations in 96 progressive supranuclear palsy subjects. | 0.679659 | <span class="gene" id="12325083-1-0-4">MAPT</span>, the gene encoding tau, was screened for mutations in 96 <span class="disease" id="12325083-1-62-92">progressive supranuclear palsy</span> subjects. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:C566021 | null | null | TSC2-deficient | 6850 | null | Syk | null | 28,202,529 | Here, we show that increased expression and activation of the tyrosine kinase Syk in TSC2-deficient cells and pulmonary nodules from lymphangioleiomyomatosis patients contributes to tumor growth. | null | null | null |
null | null | Negative | MESH:D009203 | null | null | MI | 24599 | null | iNOS | null | 28,156,163 | Finally, at 21 days after MI, echocardiographic parameters and expression of MuRF1, MaFBx, A20, eNOS, iNOS and NF-kB in the heart were evaluated. | null | null | null |
null | null | Negative | MESH:D011475 | null | null | overall survival | 6317 | null | SCC | null | 28,150,306 | OBJECTIVE: To analyze the impact of adjuvant radiation therapy (RT) on overall survival (OS) and disease-specific survival (DSS) in patients with verrucous carcinoma (VC) as compared to squamous cell carcinoma (SCC) of the oral cavity. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumour | 21926 | null | TNF-a | null | 28,177,269 | Lindane alone and in combination with LPS showed expression of immunopositive Toll-like receptor (TLR)-4 and tumour necrosis factor-alpha (TNF-a) positive reaction in various cells of lungs. | null | null | null |
null | null | Negative | MESH:D000860 | null | null | hypoxic | 59108 | null | myoglobin | null | 28,108,649 | Therefore, this study set out to test the hypothesis that the restriction in mV O2 is regulated by the net decrease in intracellular oxygen tension equilibrated with myoglobin oxygen saturation ( PmbO2) during muscle contraction under hypoxic conditions. | null | null | null |
3 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | HCC | 8289 | ARID1A | ARID1A | CTD_human | 22,922,871 | Notably, ARID1A, which encodes a component of the SWI/SNF chromatin remodeling complex, was mutated in 14 of 110 (13%) HBV-associated HCC specimens. | 0.200549 | Notably, <span class="gene" id="22922871-5-9-15">ARID1A</span>, which encodes a component of the SWI/SNF chromatin remodeling complex, was mutated in 14 of 110 (13%) HBV-associated <span class="disease" id="22922871-5-134-137">HCC</span> specimens. | CTD_human |
1 | 0 | Biomarker | C1261473 | Sarcoma | disease | sarcomas | 6597 | SMARCA4 | SMARCA4 | CTD_human | 26,343,384 | SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas. | 0.200275 | <span class="gene" id="26343384-0-0-7">SMARCA4</span> inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient <span class="disease" id="26343384-0-122-130">sarcomas</span>. | CTD_human |
1 | 1 | Biomarker | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | type 2 diabetes | 2646 | GCKR | GCKR | CTD_human | 20,081,858 | We also demonstrated association of ADCY5, PROX1, GCK, GCKR and DGKB-TMEM195 with type 2 diabetes. | 0.239258 | We also demonstrated association of ADCY5, PROX1, GCK, <span class="gene" id="20081858-5-55-59">GCKR</span> and DGKB-TMEM195 with <span class="disease" id="20081858-5-82-97">type 2 diabetes</span>. | CTD_human |
1 | 0 | Biomarker | C0243026 | Sepsis | disease | sepsis | 7099 | TLR4 | TLR4 | CTD_human | 20,624,996 | This indicates that the antimicrobial activities induced though TLR4 are dispensable for survival but contribute to lethality late in the course of sepsis. | 0.243156 | This indicates that the antimicrobial activities induced though <span class="gene" id="20624996-9-64-68">TLR4</span> are dispensable for survival but contribute to lethality late in the course of <span class="disease" id="20624996-9-148-154">sepsis</span>. | CTD_human |
null | null | Negative | MESH:C536038 | null | null | MCAD | 22229 | null | UCP3 | null | 28,116,391 | Lastly, the HF-MCT100% group had raised markers of beta-oxidation (UCP3 and MCAD) and mitochondrial biogenesis (PGC1-alpha and NRF1). | null | null | null |
null | null | Negative | MESH:D015658 | null | null | HIV-1 | 155971 | null | envelope trimer | null | 28,100,831 | Neutralization was attributed to three different bNAbs targeting nonoverlapping sites on the HIV-1 envelope trimer (Env). | null | null | null |
null | null | Negative | MESH:D017827 | null | null | wild-type | 673 | null | BRAF | null | 28,021,153 | Two- and three-group comparisons were performed to determine characteristics and outcomes significantly associated with BRAF, NRAS, and wild-type (WT) genotypes. | null | null | null |
null | null | Negative | MESH:D015775 | null | null | endoplasmic reticulum stress | 10013 | null | HDAC6 | null | 28,023,547 | Additionally, inhibition of HDAC6 by PAN abrogates BTZ-induced protective aggreosome formation and accentuates BTZ induced endoplasmic reticulum stress, leading to further apoptosis. | null | null | null |
null | null | Negative | MESH:D014085 | null | null | migration | 4282 | null | MIF | null | 28,086,136 | MiR-451 inhibited cell proliferation, migration and angiogenesis and promoted apoptosis of human osteosarcoma cells, at least partially, by inhibiting the expression of MIF. | null | null | null |
null | null | Negative | MESH:D054740 | null | null | FDC sarcomas | 80380 | null | PD-L2 | null | 28,130,401 | The enrichment in specific T-cell subsets prompted investigating the mRNA expression of the inhibitory immune receptor PD-1 and its ligands PD-L1 and PD-L2, which were found to be significantly upregulated in FDC sarcomas as compared with other mesenchymal tumors, a finding also confirmed<i>in situ</i>Here, it is demonstrated for the first time the transcriptional relationship of FDC sarcomas with nonmalignant FDCs and their distinction from other mesenchymal tumors.<b>Implications:</b>The current study provides evidence of a peculiar immune microenvironment associated with FDC sarcomas that may have clinical utility.<i>Mol Cancer Res; 15(5); 541-52. | null | null | null |
null | null | Negative | MESH:D018177 | null | null | flavivirus infection | 54463 | null | FAM134B | null | 28,102,736 | These findings thus point to an important role for FAM134B and reticulophagy in the regulation of flavivirus infection and suggest that these viruses specifically target these pathways to promote viral replication. | null | null | null |
1 | 0 | Biomarker | C0752347 | Lewy Body Disease | disease | Lewy body disease | 6648 | SOD2 | SOD2 | CTD_human | 16,141,792 | Preliminary analyses have identified 2 proteins with lipoxidative damage, alpha-synuclein and manganese superoxide dismutase (SOD2), in incidentally Lewy body disease cortex. | 0.2 | Preliminary analyses have identified 2 proteins with lipoxidative damage, alpha-synuclein and manganese superoxide dismutase (<span class="gene" id="16141792-8-126-130">SOD2</span>), in incidentally <span class="disease" id="16141792-8-149-166">Lewy body disease</span> cortex. | CTD_human |
null | null | Negative | MESH:D012769 | null | null | HSPs | 424059 | null | HSP60 | null | 28,190,185 | Se deficiency led to decreased selenoproteins (Gpx1, Selk, and Selh) and HSPs (HSP40, HSP60, and HSP90) (P < 0.05). | null | null | null |
null | null | Negative | MESH:D034381 | null | null | hearing loss | 104153 | null | SPL | null | 28,034,618 | Wildtype (WT) and AR deficient mice were exposed to octave band noise (8-16 kHz, 100 dB SPL) for 2 h to induce cochlear injury and hearing loss. | null | null | null |
2 | 0 | Therapeutic | C0524851 | Neurodegenerative Disorders | group | neurodegenerative disorders | 23411 | SIRT1 | SIRT1 | CTD_human | 17,581,637 | Thus, SIRT1 constitutes a unique molecular link between aging and human neurodegenerative disorders and provides a promising avenue for therapeutic intervention. | 0.206854 | Thus, <span class="gene" id="17581637-7-6-11">SIRT1</span> constitutes a unique molecular link between aging and human <span class="disease" id="17581637-7-72-99">neurodegenerative disorders</span> and provides a promising avenue for therapeutic intervention. | CTD_human |
null | null | Negative | MESH:D001847 | null | null | bone diseases | 18018 | null | NFATc1 | null | 28,102,206 | Collectively, we reveal that Ga13 is a master endogenous negative switch for osteoclastogenesis through regulation of the RhoA/Akt/GSK3b/NFATc1 signalling pathway, and that manipulating Ga13 activity might be a therapeutic strategy for bone diseases. | null | null | null |
null | null | Negative | OMIM:612348 | null | null | fibroblast activation protein | 14268 | null | fibronectin | null | 28,178,689 | Expression of CAFs specific proteins markers in MCs, including fibroblast activation protein (FAP), alpha-smooth muscle actin (a-SMA), and fibronectin, were increased after treatment of exosomes. | null | null | null |
null | null | Negative | MESH:C565133 | null | null | CCL-2 | 3576 | null | CXCL-8 | null | 28,143,523 | RESULTS: Functional analyses of differentially expressed genes in the skin suggest that allergic contact-like dermatitis develops with ensuing production of IL-6, CXCL-8 and CCL-2 and is sustained by HMGB1, ISG15 and PKR, leading to expression of pro-inflammatory chemokines and cytokines that recruit granulocytes and T lymphocytes. | null | null | null |
2 | 0 | Biomarker | C0279626 | Squamous cell carcinoma of esophagus | disease | ESCC | 217 | ALDH2 | ALDH2 | CTD_human | 16,639,733 | The findings indicated that individuals with low dietary selenium intake and ALDH2 Lys/Lys and XRCC1 399Gln/Gln or Gln/Arg genotypes were associated with an increased ESCC risk, especially in the presence of exposure to tobacco and alcohol carcinogens. | 0.206044 | The findings indicated that individuals with low dietary selenium intake and <span class="gene" id="16639733-10-77-82">ALDH2</span> Lys/Lys and XRCC1 399Gln/Gln or Gln/Arg genotypes were associated with an increased <span class="disease" id="16639733-10-167-171">ESCC</span> risk, especially in the presence of exposure to tobacco and alcohol carcinogens. | CTD_human |
null | null | Negative | MESH:D057180 | null | null | frontotemporal dementia | 5950 | null | RBP | null | 28,007,900 | This finding prompted us to re-analyze published datasets from a recent report on TDP-43, an RBP implicated in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), as it was demonstrated that TDP-43 represses cryptic exon splicing to promote cell survival. | null | null | null |
null | null | Negative | MESH:D007239 | null | null | infections | 6765 | null | ST8 | null | 28,005,521 | RESULTS: Approximately half of the isolates belonged to well-described clonal lineages, ST1, ST5, ST8, ST45 and ST59, that have previously been associated with severe infections and increased patient mortality. | null | null | null |
1 | 0 | Biomarker | C0024299 | Lymphoma | group | lymphoma | 4292 | MLH1 | Mlh1 | CTD_human | 15,700,306 | However, the Mlh1-deficient mice treated with DES tended to become moribund at an early age and had very early onset of lymphoma. | 0.404381 | However, the <span class="gene" id="15700306-7-13-17">Mlh1</span>-deficient mice treated with DES tended to become moribund at an early age and had very early onset of <span class="disease" id="15700306-7-120-128">lymphoma</span>. | CTD_human;HPO |
null | null | Negative | MESH:C562592 | null | null | XPF | 4436 | null | MSH2 | null | 28,021,978 | METHODS: International Adjuvant Lung Cancer Trial (IALT) NSCLC FFPE patient specimens constructed on TMAs were stained by IHC for DNA repair biomarkers: ATM, MSH2, ERCC1, p53, pMK2, PARP1, BRCA1, XPF. | null | null | null |
3 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | HCC | 174 | AFP | alpha-fetoprotein | CTD_human | 9,029,167 | Molecular biological analyses of the induced lesions revealed point mutations in the p53 gene in 60.9% of HCCs, and elevated expression of mRNAs for p53, c-myc, c-fos, TGF-alpha, TGF-beta1, alpha-fetoprotein, GST-P, and GGT, and decreased mRNA expression of EGF and EGFR in HCCs when compared to controls. | 0.320994 | Molecular biological analyses of the induced lesions revealed point mutations in the p53 gene in 60.9% of <span class="disease" id="9029167-4-106-109">HCC</span>s, and elevated expression of mRNAs for p53, c-myc, c-fos, TGF-alpha, TGF-beta1, <span class="gene" id="9029167-4-190-207">alpha-fetoprotein</span>, GST-P, and GGT, and decreased mRNA expression of EGF and EGFR in <span class="disease" id="9029167-4-274-277">HCC</span>s when compared to controls. | CTD_human |
null | null | Negative | MESH:D011704 | null | null | acute pyelonephritis | 54113 | null | VUR | null | 28,169,298 | Here, we evaluated the value of DNI in predicting acute pyelonephritis (APN) or vesicoureteral reflux (VUR) using the data of 288 patients. | null | null | null |
null | null | Negative | MESH:D009422 | null | null | neurodevelopmental abnormalities | 21926 | null | TNF-a | null | 28,122,986 | Neutralization of TNF-a normalized neurodevelopmental abnormalities in infected mice, providing evidence that virus-induced inflammation is a major component of disease in the developing brain. | null | null | null |
1 | 0 | Biomarker | C0023465 | Acute monocytic leukemia | disease | acute monocytic leukemia | 1788 | DNMT3A | DNMT3A | CTD_human | 21,399,634 | Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia. | 0.200275 | Exome sequencing identifies somatic mutations of DNA methyltransferase gene <span class="gene" id="21399634-0-76-82">DNMT3A</span> in <span class="disease" id="21399634-0-86-110">acute monocytic leukemia</span>. | CTD_human |
1 | 0 | Biomarker | C0015306 | Hereditary Multiple Exostoses | disease | multiple osteochondromas | 2132 | EXT2 | EXT2 | CTD_human | 23,439,489 | Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. | 0.641541 | Mutations in the EXT1 and <span class="gene" id="23439489-0-26-30">EXT2</span> genes in Spanish patients with <span class="disease" id="23439489-0-62-86">multiple osteochondromas</span>. | CTD_human;HPO;ORPHANET |
9 | 52 | Biomarker | C0238052 | Xanthomatosis, Cerebrotendinous | disease | cerebrotendinous xanthomatosis | 1593 | CYP27A1 | CYP27A1 | CTD_human | 19,801,147 | Patients with inherited "cerebrotendinous xanthomatosis" lack sterol 27-hydroxylase (CYP27A1) and develop severe premature atherosclerosis despite normal serum cholesterol concentrations. | 0.638911 | Patients with inherited "<span class="disease" id="19801147-3-25-55">cerebrotendinous xanthomatosis</span>" lack <span class="gene" id="19801147-3-62-83">sterol 27-hydroxylase</span> (<span class="gene" id="19801147-3-85-92">CYP27A1</span>) and develop severe premature atherosclerosis despite normal serum cholesterol concentrations. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:C562465 | null | null | cause-specific | 55907 | null | CSS | null | 28,143,224 | Primary outcome measures were 3-year cause-specific (CSS) and overall survival (OS). | null | null | null |
4 | 7 | Biomarker | C0022595 | Keratosis Follicularis | disease | Darier's disease | 488 | ATP2A2 | SERCA2 | CTD_human | 16,733,453 | Darier's disease is caused by mutations of the ATP2A2 gene, which codes for the SERCA2 endoplasmic reticulum calcium pump. | 0.723762 | <span class="disease" id="16733453-8-0-16">Darier's disease</span> is caused by mutations of the <span class="gene" id="16733453-8-47-53">ATP2A2</span> gene, which codes for the <span class="gene" id="16733453-8-80-86">SERCA2</span> endoplasmic reticulum calcium pump. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D030342 | null | null | negative formal thought disorder | 617 | null | PTD | null | 28,017,494 | We conducted a meta-analysis of studies comparing positive (PTD) and negative formal thought disorder (NTD) in schizophrenia and BP. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 963084 | null | CPT-11 | null | 28,020,493 | UNASSIGNED: 4069 Background: PEP02 is a novel nanoparticle liposome formulation of irinotecan (CPT-11) that has improved pharmacokinetics and tumor biodistribution of both CPT-11 and its active metabolite-SN38 compared to the free form drug. | null | null | null |
null | null | Negative | OMIM:135300 | null | null | HGF | 4513 | null | COX2 | null | 28,181,858 | INFy stimulation resulted in significant dose-dependent upregulation of IDO1, PD-L1, IL-6, COX2, and HGF. | null | null | null |
1 | 0 | Biomarker | C0033860 | Psoriasis | disease | psoriasis | 6278 | S100A7 | Psoriasin | CTD_human | 18,194,266 | Psoriasin, an Escherichia coli-cidal antimicrobial protein, has been found to be overexpressed in psoriasis, a skin disease characterized by infiltration of neutrophils. | 0.203846 | <span class="gene" id="18194266-2-0-9">Psoriasin</span>, an Escherichia coli-cidal antimicrobial protein, has been found to be overexpressed in <span class="disease" id="18194266-2-98-107">psoriasis</span>, a skin disease characterized by infiltration of neutrophils. | CTD_human |
null | null | Negative | MESH:D020159 | null | null | TS | 7270 | null | TTF1 | null | 28,023,232 | Levels of TTF1, TS, folate receptor (FR), FPGS, estrogen receptor (ER), RRM1, EGFR and PTEN were assessed using immunohistochemistry assays from Ventana Medical Systems. | null | null | null |
null | null | Negative | MESH:D019966 | null | null | dependence | 820651 | null | AtPME3 | null | 28,034,952 | Simulations revealed the structural determinants of the pH dependence for the interaction of these inhibitors with AtPME3, a major PME expressed in roots. | null | null | null |
null | null | Negative | MESH:D056784 | null | null | GM | 23584 | null | CTh | null | 28,169,581 | Using FreeSurfer and FIRST software, we assessed cortical thickness (CTh) and deep GM volumetry. | null | null | null |
null | null | Negative | MESH:D021081 | null | null | isoform dysregulation | 29495 | null | PSD-95 | null | 28,126,896 | Conclusions: Our findings describe a unique pathophysiology of specific PSD-95 isoform dysregulation in schizophrenia, chronic neuroleptic treatment, and a genetic lesion mouse model of drastically reduced N-methyl-d-aspartate receptor (NMDAR) complex expression. | null | null | null |
null | null | Negative | MESH:D009362 | null | null | metastasis | 20315 | null | SDF-1 | null | 28,012,398 | The present work is aimed to study the modulating effect of JPBS on the lungs expressions of Rac1, Cdc42, SDF-1, and FN in a murine gastric cancer model showing spontaneous lung metastasis. | null | null | null |
null | null | Negative | MESH:D014085 | null | null | migration | 387182 | null | miR-187 | null | 28,098,868 | Functionally, overexpression miR-187 could promote while inhibition of miR-187 could suppress, the proliferation, migration and invasion of GC cells in vitro. | null | null | null |
2 | 2 | Biomarker | C1855425 | Marles Greenberg Persaud syndrome | disease | MOTA | 158326 | FREM1 | FREM1 | CTD_human | 23,221,805 | Recessive mutations in the FRAS1-related extracellular matrix 1 (FREM1) gene have been shown to cause bifid nose with or without anorectal and renal anomalies (BNAR) syndrome and Manitoba oculotrichoanal (MOTA) syndrome, but have not been previously implicated in the development of CDH. | 0.681374 | Recessive mutations in the <span class="gene" id="23221805-2-27-63">FRAS1-related extracellular matrix 1</span> (<span class="gene" id="23221805-2-65-70">FREM1</span>) gene have been shown to cause bifid nose with or without anorectal and renal anomalies (BNAR) syndrome and Manitoba oculotrichoanal (<span class="disease" id="23221805-2-205-209">MOTA</span>) syndrome, but have not been previously implicated in the development of CDH. | CTD_human;ORPHANET;UNIPROT |
9 | 0 | Biomarker | C0030567 | Parkinson Disease | disease | Parkinson disease | 11315 | PARK7 | protein DJ-1 | CTD_human | 23,792,957 | Parkinson disease protein DJ-1 binds metals and protects against metal-induced cytotoxicity. | 0.305236 | <span class="disease" id="23792957-0-0-17">Parkinson disease</span> <span class="gene" id="23792957-0-18-30">protein DJ-1</span> binds metals and protects against metal-induced cytotoxicity. | CTD_human |
null | null | Negative | MESH:D010523 | null | null | peripheral LPS | 16819 | null | LCN2 | null | 28,070,126 | To determine whether the high level of LCN2 in the CNS is protective or deleterious, we challenged Lcn2-/- mice with peripheral LPS and determined effects on behavior and neuroinflammation. | null | null | null |
null | null | Negative | MESH:D050723 | null | null | fractures | 2796 | null | LHRH | null | 28,137,094 | CONCLUSIONS: This analysis of 2,328 men shows degarelix-treated men had lower ALP, significantly fewer fractures, a lower incidence of urinary tract symptoms and higher overall survival than pts receiving an LHRH agonist over one year. | null | null | null |
1 | 0 | Biomarker | C0002736 | Amyotrophic Lateral Sclerosis | disease | ALS | 6506 | SLC1A2 | GLT-1 | CTD_human | 11,723,166 | These findings indicate that the loss of GLT-1 protein in ALS mice selectively occurs in the areas affected by neurodegeneration and reactive astrocytosis and it is not associated with increases of glutamate levels in CSF. | 0.212609 | These findings indicate that the loss of <span class="gene" id="11723166-8-41-46">GLT-1</span> protein in <span class="disease" id="11723166-8-58-61">ALS</span> mice selectively occurs in the areas affected by neurodegeneration and reactive astrocytosis and it is not associated with increases of glutamate levels in CSF. | CTD_human |
8 | 0 | Biomarker | C0040028 | Thrombocythemia, Essential | disease | essential thrombocythaemia | 3717 | JAK2 | JAK2 | CTD_human | 15,781,101 | A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis. | 0.63264 | A single point mutation (Val617Phe) was identified in <span class="gene" id="15781101-7-54-58">JAK2</span> in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with <span class="disease" id="15781101-7-131-157">essential thrombocythaemia</span>, and eight (50%) of 16 with idiopathic myelofibrosis. | CTD_human;ORPHANET |
2 | 1 | Biomarker | C0004096 | Asthma | disease | asthma | 3115 | HLA-DPB1 | DPB1 | CTD_human | 16,792,590 | The HLA haplotype DRB1*15-DPB1*05 can be a susceptibility gene marker for the development of TDI-induced asthma among the exposed workers in the Korean population. | 0.225113 | The HLA haplotype DRB1*15-<span class="gene" id="16792590-10-26-30">DPB1</span>*05 can be a susceptibility gene marker for the development of TDI-induced <span class="disease" id="16792590-10-105-111">asthma</span> among the exposed workers in the Korean population. | CTD_human |
11 | 0 | Therapeutic | C0598608 | Hyperhomocysteinemia | disease | hyperhomocysteinemia | 4524 | MTHFR | methylenetetrahydrofolate reductase | CTD_human | 18,234,410 | Evaluation of the relationship between C677T variants of methylenetetrahydrofolate reductase gene and hyperhomocysteinemia in children receiving antiepileptic drug therapy. | 0.421414 | Evaluation of the relationship between C677T variants of <span class="gene" id="18234410-0-57-92">methylenetetrahydrofolate reductase</span> gene and <span class="disease" id="18234410-0-102-122">hyperhomocysteinemia</span> in children receiving antiepileptic drug therapy. | CTD_human |
null | null | Negative | MESH:C562515 | null | null | CP | 26503 | null | AST | null | 28,015,131 | Data to assess CP score were collected prospectively, along with AST. | null | null | null |
null | null | Negative | MESH:C567932 | null | null | OS | 7276 | null | TTR | null | 28,154,777 | After excluding male patients in the 45-60 age group, the predictive efficiency was enhanced (n = 147, OS, P = 0.0002, TTR, P < 0.0001). | null | null | null |
2 | 0 | Biomarker | C0497327 | Dementia | disease | dementia | 2896 | GRN | PGRN | CTD_human | 17,436,289 | It also demonstrates that half of the patients with a PGRN mutation in our series had no apparent family history of dementia. | 0.275764 | It also demonstrates that half of the patients with a <span class="gene" id="17436289-10-54-58">PGRN</span> mutation in our series had no apparent family history of <span class="disease" id="17436289-10-116-124">dementia</span>. | CTD_human |
null | null | Negative | MESH:D056486 | null | null | hepatitis | 83430 | null | IL-23 | null | 28,092,402 | In summary, our results demonstrated that y T cells played a protective role in restraining Con A-induced hepatitis by inhibiting IFN-y production from CD4+ T cells and are indispensable for IL-23-mediated protection against Con A-induced hepatitis in HBs-Tg mice. | null | null | null |
6 | 2 | Biomarker | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | type 2 diabetes | 169026 | SLC30A8 | ZnT8 | CTD_human | 19,542,200 | Insulin storage and glucose homeostasis in mice null for the granule zinc transporter ZnT8 and studies of the type 2 diabetes-associated variants. | 0.301703 | Insulin storage and glucose homeostasis in mice null for the granule zinc transporter <span class="gene" id="19542200-0-86-90">ZnT8</span> and studies of the <span class="disease" id="19542200-0-110-125">type 2 diabetes</span>-associated variants. | CTD_human |
2 | 0 | Biomarker | C2931456 | Prostate cancer, familial | disease | hereditary prostate cancer | 999 | CDH1 | CDH1 | CTD_human | 14,961,571 | Our data indicate that the -160 single nucleotide polymorphism in CDH1 is a low-penetrant prostate cancer susceptibility gene that might explain a proportion of familial and notably hereditary prostate cancer. | 0.200275 | Our data indicate that the -160 single nucleotide polymorphism in <span class="gene" id="14961571-8-66-70">CDH1</span> is a low-penetrant prostate cancer susceptibility gene that might explain a proportion of familial and notably <span class="disease" id="14961571-8-182-208">hereditary prostate cancer</span>. | CTD_human |
null | null | Negative | MESH:D014777 | null | null | viral infection | 442206 | null | GPCR | null | 28,035,083 | This review will aid in our understanding of how pathogenic viruses usurp the host GPCR signaling for successful viral infection. | null | null | null |
null | null | Negative | MESH:D009336 | null | null | Tumor necrosis factor-a | 24494 | null | interleukin 1b | null | 28,018,176 | Tumor necrosis factor-a (TNFa), but not interleukin-6 (IL6) or interleukin 1b (IL1b), promoted GDNF production by BMSCs (P < 0.001). | null | null | null |
21 | 1 | Biomarker | C0025202 | melanoma | disease | melanomas | 673 | BRAF | B-Raf | CTD_human | 20,973,932 | PLX4032, a potent inhibitor of the B-Raf V600E oncogene, selectively inhibits V600E-positive melanomas. | 0.391291 | PLX4032, a potent inhibitor of the <span class="gene" id="20973932-0-35-40">B-Raf</span> V600E oncogene, selectively inhibits V600E-positive <span class="disease" id="20973932-0-93-102">melanomas</span>. | CTD_human |
null | null | Negative | MESH:C536528 | null | null | LPS | 4513 | null | COX-2 | null | 28,040,561 | Finally, CRM-loaded Ms caused a significant inhibition of analysed pro-inflammatory cytokines (TNFa, IL-1b, NOS2, COX-2) in macrophages stimulated with LPS. | null | null | null |
1 | 0 | Biomarker | C0151744 | Myocardial Ischemia | disease | ischemic heart disease | 1401 | CRP | C-reactive protein | CTD_human | 11,840,375 | Persistent elevation of C-reactive protein and ischemic heart disease in patients with continuous ambulatory peritoneal dialysis. | 0.210243 | Persistent elevation of <span class="gene" id="11840375-0-24-42">C-reactive protein</span> and <span class="disease" id="11840375-0-47-69">ischemic heart disease</span> in patients with continuous ambulatory peritoneal dialysis. | CTD_human |
null | null | Negative | MESH:D001168 | null | null | hip arthritis | 729238 | null | SpA | null | 28,086,918 | Girls with positive HLA-B27 presenting with isolated hip arthritis could meet the classification criteria for both oligoJIA and juvenile-onset SpA. | null | null | null |
1 | 0 | Biomarker | C0270853 | Myoclonic Epilepsy, Juvenile | disease | JME | 8629 | JRK | JRK | CTD_human | 11,463,517 | Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME. | 0.400275 | Polymorphism analysis of <span class="gene" id="11463517-0-25-28">JRK</span>/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to <span class="disease" id="11463517-0-134-137">JME</span>. | CTD_human;ORPHANET |
null | null | Negative | MESH:D009336 | null | null | necrosis | 20846 | null | STAT1 | null | 28,101,184 | Western blot findings demonstrated that luteolin significantly inhibited interferon-y-induced increases in cyclooxygenase 2, phosphorylated STAT1 and phosphorylated STAT3 expression levels and the secretion of the proinflammatory cytokine tumor necrosis factor-a in supernatants. | null | null | null |
null | null | Negative | MESH:C536108 | null | null | aminopeptidase N | 1636 | null | ACE | null | 28,174,624 | BACKGROUND: Serum peptidases, such as angiotensin-converting enzyme (ACE), angiotensin-converting enzyme-2 (ACE2), neutral endopeptidase (NEP), aminopeptidase N (APN), and aminopeptidase A (APA), are important elements of the renin-angiotensin system (RAS). | null | null | null |
null | null | Negative | MESH:D002796 | null | null | CHKA | 1956 | null | epidermal growth factor receptor | null | 28,065,789 | Immunoprecipitation and immunofluorescence assays were conducted to determine interactions between CHKA and the epidermal growth factor receptor (EGFR) and the mechanistic target of rapamycin complex 2. | null | null | null |
null | null | Negative | MESH:D054067 | null | null | DPD deficient | 25803 | null | PDef | null | 28,016,902 | We recently reported a novel breath test (UraBT) to rapidly detect partially (PDef) and completely (CDef) DPD deficient individuals. | null | null | null |
48 | 353 | Biomarker | C0024796 | Marfan Syndrome | disease | MFS | 2200 | FBN1 | fibrillin-1 | CTD_human | 18,178,469 | The study employed a well-characterized animal model of MFS, namely fibrillin-1 under-expressing mice (mgR/mgR mice) that die spontaneously from rupture of the thoracic aorta between 2 to 4 months of age. | 0.843543 | The study employed a well-characterized animal model of <span class="disease" id="18178469-6-56-59">MFS</span>, namely <span class="gene" id="18178469-6-68-79">fibrillin-1</span> under-expressing mice (mgR/mgR mice) that die spontaneously from rupture of the thoracic aorta between 2 to 4 months of age. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D007249 | null | null | inflammation | 12944 | null | C-reactive protein | null | 28,115,059 | Even though elderly populations lack visible or other clinical signs of inflammation, their serum cytokine and C-reactive protein levels typically are elevated. | null | null | null |
null | null | Negative | MESH:D003108 | null | null | myenteric nerve plexus of the colon | 116647 | null | neuroligin-1 and neurexin IIa | null | 28,194,405 | In immunohistochemical staining, proteins neuroligin-1 and neurexin IIa positive cells concentrated mostly in the myenteric nerve plexus of the colon and their expressions depend on the embryonic time. | null | null | null |
1 | 0 | Biomarker | C0023267 | Fibroid Tumor | disease | leiomyomas | 4088 | SMAD3 | Smad3 | CTD_human | 22,228,119 | Taken together, these results suggest that downregulation of activin A and Smad3, both members of the TGF-? pathway, may offer a mechanistic explanation for the inhibitory effect of a high-dose of genistein on UtLM cells, and might be potential therapeutic targets for treatment of clinical cases of uterine leiomyomas. | 0.200549 | Taken together, these results suggest that downregulation of activin A and <span class="gene" id="22228119-6-75-80">Smad3</span>, both members of the TGF-β pathway, may offer a mechanistic explanation for the inhibitory effect of a high-dose of genistein on UtLM cells, and might be potential therapeutic targets for treatment of clinical cases of uterine <span class="disease" id="22228119-6-308-318">leiomyomas</span>. | CTD_human |
null | null | Negative | MESH:D007333 | null | null | elevated insulin sensitivity | 74244 | null | Atg7 | null | 28,153,729 | RESULTS: 4-PBA treatment not only reversed autophagic dysfunction and ER stress, but also improved impaired insulin signaling in tunicamycin-induced adipocytes, and 4-PBA also inhibited activated ER stress and elevated insulin sensitivity in adipocytes with Atg7 siRNA. | null | null | null |
null | null | Negative | MESH:D009133 | null | null | SMA | 387202 | null | miR-206 | null | 28,131,311 | In this study, we selectively characterized the expression of miR-9, miR-206, and miR-132 in spinal cord, skeletal muscle, and serum from SMA transgenic mice, and in serum from SMA patients. | null | null | null |
null | null | Negative | MESH:D012559 | null | null | schizophrenia | 211323 | null | NRG1 | null | 28,198,409 | UNASSIGNED: Deficits in neurite outgrowth, possibly involving dysregulation of risk genes neuregulin-1 (NRG1) and disrupted in schizophrenia 1 (DISC1) have been implicated in psychiatric disorders including schizophrenia. | null | null | null |
2 | 0 | Biomarker | C1266119 | Solitary fibrous tumor | disease | solitary fibrous tumor | 4665 | NAB2 | NAB2 | CTD_human | 23,313,952 | Identification of recurrent NAB2-STAT6 gene fusions in solitary fibrous tumor by integrative sequencing. | 0.205769 | Identification of recurrent <span class="gene" id="23313952-0-28-32">NAB2</span>-STAT6 gene fusions in <span class="disease" id="23313952-0-55-77">solitary fibrous tumor</span> by integrative sequencing. | CTD_human |
3 | 0 | Therapeutic | C0002622 | Amnesia | disease | amnesia | 6863 | TAC1 | substance P | CTD_human | 7,562,510 | In addition, coadministration of JTP-4819 and substance P, arginine-vasopressin or thyrotropin-releasing hormone (at doses at which each drug alone did not prolong the retention time) improved the retention time of rats with scopolamine-induced amnesia. | 0.2 | In addition, coadministration of JTP-4819 and <span class="gene" id="7562510-4-46-57">substance P</span>, arginine-vasopressin or thyrotropin-releasing hormone (at doses at which each drug alone did not prolong the retention time) improved the retention time of rats with scopolamine-induced <span class="disease" id="7562510-4-245-252">amnesia</span>. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 382056 | null | mTORC1 | null | 28,184,024 | AKT activation was linked to mTORC1 and GSK-3b/b-catenin signaling, which are primarily associated with tumor cell growth and metastasis, respectively. | null | null | null |
1 | 0 | Therapeutic | C0019163 | Hepatitis B | disease | HBV | 3439 | IFNA1 | interferon alpha 1b | CTD_human | 15,504,288 | To explore a new strategy for effective and economical anti-virus therapy for HBV infection, we conducted a sequence administration of lamivudine and interferon alpha 1b to evaluate its effects on HBV replication and rebound as well as YMDD mutation induced by lamivudine. | 0.213736 | To explore a new strategy for effective and economical anti-virus therapy for <span class="disease" id="15504288-1-78-81">HBV</span> infection, we conducted a sequence administration of lamivudine and <span class="gene" id="15504288-1-150-169">interferon alpha 1b</span> to evaluate its effects on HBV replication and rebound as well as YMDD mutation induced by lamivudine. | CTD_human |
9 | 0 | Biomarker | C0038325 | Stevens-Johnson Syndrome | disease | Stevens-Johnson syndrome | 3106 | HLA-B | HLA-B | CTD_human | 20,485,159 | The association of the HLA-B*1502 allele with CBZ-induced Stevens-Johnson syndrome in Asian population has also recently been observed. | 0.457454 | The association of the <span class="gene" id="20485159-5-23-28">HLA-B</span>*1502 allele with CBZ-induced <span class="disease" id="20485159-5-58-82">Stevens-Johnson syndrome</span> in Asian population has also recently been observed. | CTD_human;ORPHANET |
null | null | Negative | MESH:D018088 | null | null | MDR-TB | 886847 | null | Rv0147 | null | 28,043,507 | Our results suggested that T cells stimulated by the protein candidate Rv0147 may be shifted to T helper 1 status in MDR-TB patients. | null | null | null |
null | null | Negative | MESH:D004194 | null | null | disease-free survival | 7298 | null | TS | null | 28,014,351 | Overall survival (OS) and disease-free survival (DFS) were compared between high and low expressors of TS and TP singly and in combination. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 363520 | null | interleukin-1 receptor-associated kinase-1 | null | 28,066,106 | The expression of miR-146a and miR-155 and the messenger RNA (mRNA) expressions of NF-kB, interleukin-1 receptor-associated kinase-1 (IRAK-1), and tumor necrosis factor receptor-associated factor-6 (TRAF-6) were analyzed by real-time polymerase chain reaction. | null | null | null |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.