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null | null | Negative | MESH:D008175 | null | null | lung cancer | 13144 | null | DAPK3 | null | 28,075,459 | However, the role of DAPK3 in non-small cell lung cancer (NSCLC) remains unclear. | null | null | null |
null | null | Negative | MESH:C536657 | null | null | REAL-TNF | 4792 | null | REAL-NFKBIA | null | 28,031,022 | Moreover, the results of regulatory network showed that the anti-aging related target pairs with high correlated degrees of Kidney Yin-tonifying herbal medicines included TNF-PTGS2, TNF-CASP3, PTGS2-CASP3, CASP3-NOS2 and TNF-NOS2, and that of kidney Yang-tonifying herbal medicines included REAL-TNF, REAL-NFKBIA, REAL-JUN, PTGS2-SOD1 and TNF-IL6. | null | null | null |
1 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | HCC | 2944 | GSTM1 | GSTM1 | CTD_human | 7,892,276 | These results indicate that individuals with mutant genotypes at EPHX and GSTM1 may be at greater risk of developing AFB1 adducts, p53 mutations, and HCC when exposed to AFB1. | 0.250479 | These results indicate that individuals with mutant genotypes at EPHX and <span class="gene" id="7892276-7-74-79">GSTM1</span> may be at greater risk of developing AFB1 adducts, p53 mutations, and <span class="disease" id="7892276-7-150-153">HCC</span> when exposed to AFB1. | CTD_human |
11 | 0 | Biomarker | C0003469 | Anxiety Disorders | group | anxiety | 1392 | CRH | corticotropin-releasing factor | CTD_human | 14,575,894 | Hippocampal serotonergic system is involved in anxiety-like behavior induced by corticotropin-releasing factor. | 0.206868 | Hippocampal serotonergic system is involved in <span class="disease" id="14575894-0-47-54">anxiety</span>-like behavior induced by <span class="gene" id="14575894-0-80-110">corticotropin-releasing factor</span>. | CTD_human |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autistic disorder | 30061 | SLC40A1 | SLC11A3 | CTD_human | 15,446,388 | We performed family-based association studies of polymorphisms in metal-regulatory transcription factor 1(MTF1), a multispecific organic anion transporter (ABCC1), proton-coupled divalent metal ion transporters (SLC11A3 and SLC11A2), paraoxonase 1 (PON1), and glutathione S-transferase (GSTP1) genes in 196 autistic disorder families. | 0.2 | We performed family-based association studies of polymorphisms in metal-regulatory transcription factor 1(MTF1), a multispecific organic anion transporter (ABCC1), proton-coupled divalent metal ion transporters (<span class="gene" id="15446388-4-212-219">SLC11A3</span> and SLC11A2), paraoxonase 1 (PON1), and glutathione S-transferase (GSTP1) genes in 196 <span class="disease" id="15446388-4-307-324">autistic disorder</span> families. | CTD_human |
12 | 0 | Biomarker | C0027819 | Neuroblastoma | disease | neuroblastoma | 4613 | MYCN | MYCN | CTD_human | 23,042,116 | LIN28B induces neuroblastoma and enhances MYCN levels via let-7 suppression. | 0.493665 | LIN28B induces <span class="disease" id="23042116-0-15-28">neuroblastoma</span> and enhances <span class="gene" id="23042116-0-42-46">MYCN</span> levels via let-7 suppression. | CTD_human;ORPHANET |
null | null | Negative | MESH:D030342 | null | null | AD IL-17F deficiency | 10758 | null | ACT1 | null | 28,090,315 | Four genetic etiologies, AR IL-17 receptor A, IL-17 receptor C and ACT1 deficiencies, and AD IL-17F deficiency, are reported to underlie CMCD. | null | null | null |
null | null | Negative | MESH:C567079 | null | null | UBC | 2064 | null | HER2 | null | 28,063,331 | In 52.5% the molecular subtype was identical between indicator and non-indicator lesion with more triple negative and HER2 positive BC in the group of UBC. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 66402 | null | SLN | null | 28,027,535 | UNASSIGNED: This work aimed to develop hyaluronic acid (HA) decorated pluronic 85 (P85) coated solid lipid nanoparticles (SLN) loaded with paclitaxel (HA-PTX-P85-SLN) and to evaluate its potential to overcome drug resistance and to increase antitumor efficacy in mice bearing cervical and breast tumor. | null | null | null |
null | null | Negative | MESH:D011127 | null | null | colorectal polyps | 100170220 | null | snare | null | 28,134,634 | BACKGROUND: This study compared the incidence of delayed bleeding following 2 methods of cold snare polypectomy for colorectal polyps in patients taking antithrombotic agents. | null | null | null |
null | null | Negative | MESH:C537014 | null | null | Kawasaki disease | 3560 | null | IL-2 receptor | null | 28,081,636 | While the serum concentrations of soluble IL-2 receptor can change under such pathologies, the relevance of the soluble IL-2 receptor concentration in patients with Kawasaki disease has not been specified. | null | null | null |
null | null | Negative | MESH:D003110 | null | null | colonic mucosa | 16193 | null | interleukin (IL)-6 | null | 28,212,276 | In PTX-administered mice, the mRNA expression levels of cyclooxygenase (COX)-2, interleukin (IL)-6, and TNF-a, and the number of proliferating cell nuclear antigen (PCNA)-positive cells in the colonic mucosa, were significantly reduced. | null | null | null |
1 | 0 | Biomarker | C0004364 | Autoimmune Diseases | group | autoimmunity | 3263 | HPX | hemopexin | CTD_human | 18,641,331 | To this end, we chose a mouse model of mercury-induced autoimmunity and evaluated the susceptibility of hemopexin-null mice to mercury treatment compared with wild-type controls. | 0.2 | To this end, we chose a mouse model of mercury-induced <span class="disease" id="18641331-5-55-67">autoimmunity</span> and evaluated the susceptibility of <span class="gene" id="18641331-5-104-113">hemopexin</span>-null mice to mercury treatment compared with wild-type controls. | CTD_human |
null | null | Negative | MESH:D018205 | null | null | adiposity | 3630 | null | insulin | null | 28,186,655 | The results indicate that both severe and moderate maternal vitamin B12 restrictions were associated with accelerated catch-up growth, increased body fat percentage, visceral adiposity, dyslipidemia, fasting hyperglycemia and insulin resistance in the F1 offspring. | null | null | null |
null | null | Negative | MESH:D007511 | null | null | ischemia | 29560 | null | Hypoxia inducible factor 1a | null | 28,106,731 | Hypoxia inducible factor 1a (HIF-1a), a pivotal regulator of gene expression in response to hypoxia and ischemia, is now considered to regulate both pro-survival and pro-death responses depending on the duration and severity of the stress. | null | null | null |
24 | 0 | Biomarker | C0002736 | Amyotrophic Lateral Sclerosis | disease | amyotrophic lateral sclerosis | 6647 | SOD1 | superoxide dismutase 1 | CTD_human | 25,164,820 | Identification of a misfolded region in superoxide dismutase 1 that is exposed in amyotrophic lateral sclerosis. | 0.798512 | Identification of a misfolded region in <span class="gene" id="25164820-0-40-62">superoxide dismutase 1</span> that is exposed in <span class="disease" id="25164820-0-82-111">amyotrophic lateral sclerosis</span>. | CTD_human;HPO;ORPHANET |
1 | 0 | Biomarker | C0025149 | Medulloblastoma | disease | medulloblastoma | 3090 | HIC1 | Hic1 | CTD_human | 18,347,096 | Cooperation between the Hic1 and Ptch1 tumor suppressors in medulloblastoma. | 0.205205 | Cooperation between the <span class="gene" id="18347096-0-24-28">Hic1</span> and Ptch1 tumor suppressors in <span class="disease" id="18347096-0-60-75">medulloblastoma</span>. | CTD_human |
1 | 0 | Biomarker | C0036341 | Schizophrenia | disease | schizophrenia | 85458 | DIXDC1 | DIXDC1 | CTD_human | 27,752,079 | Analysis of DIXDC1 in over 9000 cases of autism, bipolar disorder and schizophrenia reveals higher rates of rare inherited sequence-disrupting single-nucleotide variants (SNVs) in these individuals compared with psychiatrically unaffected controls. | 0.200275 | Analysis of <span class="gene" id="27752079-4-12-18">DIXDC1</span> in over 9000 cases of autism, bipolar disorder and <span class="disease" id="27752079-4-70-83">schizophrenia</span> reveals higher rates of rare inherited sequence-disrupting single-nucleotide variants (SNVs) in these individuals compared with psychiatrically unaffected controls. | CTD_human |
null | null | Negative | MESH:D003093 | null | null | UC | 9527 | null | p28 | null | 28,069,403 | IL-27 encodes p28, a subunit of IL-12 family cytokines, and has been implicated in the pathogenesis of UC. | null | null | null |
1 | 0 | Biomarker | C0019158 | Hepatitis | disease | liver inflammation | 2149 | F2R | PAR-1 | CTD_human | 21,907,177 | These studies indicate that PAR-1 and hematopoietic cell TF are required for liver inflammation and steatosis in mice fed a Western diet. | 0.2 | These studies indicate that <span class="gene" id="21907177-10-28-33">PAR-1</span> and hematopoietic cell TF are required for <span class="disease" id="21907177-10-77-95">liver inflammation</span> and steatosis in mice fed a Western diet. | CTD_human |
null | null | Negative | MESH:D003643 | null | null | death | 22060 | null | p53 | null | 28,087,322 | These clinical skin manifestations were accompanied with increases in skin thickness, apoptotic cell death, mast cell degranulation, myeloperoxidase activity indicating neutrophil infiltration, p53 phosphorylation and accumulation, and an increase in COX-2 and TNFa levels. | null | null | null |
1 | 0 | Biomarker | C0004763 | Barrett Esophagus | disease | BE | 3082 | HGF | HGF | CTD_human | 15,387,324 | (1) COX-2, PPARgamma, HGF, gastrin, and its receptor are significantly upregulated in BE, suggesting a possible role for these factors in Barrett's carcinogenesis; (2) the increased NFkappaB activity is probably linked to increased IL-8 and COX-2 expression; and (3) PPARgamma ligands might be useful as a new therapeutic option in the prevention and treatment of Barrett's carcinoma. | 0.2 | (1) COX-2, PPARgamma, <span class="gene" id="15387324-9-22-25">HGF</span>, gastrin, and its receptor are significantly upregulated in <span class="disease" id="15387324-9-86-88">BE</span>, suggesting a possible role for these factors in Barrett's carcinogenesis; (2) the increased NFkappaB activity is probably linked to increased IL-8 and COX-2 expression; and (3) PPARgamma ligands might be useful as a new therapeutic option in the prevention and treatment of Barrett's carcinoma. | CTD_human |
1 | 0 | Biomarker | C0005695 | Bladder Neoplasm | disease | bladder cancer | 4524 | MTHFR | MTHFR | CTD_human | 22,747,749 | Variation in As3MT and MTHFR is associated with bladder cancer among those exposed to relatively low concentrations of inorganic arsenic. | 0.216533 | Variation in As3MT and <span class="gene" id="22747749-10-23-28">MTHFR</span> is associated with <span class="disease" id="22747749-10-48-62">bladder cancer</span> among those exposed to relatively low concentrations of inorganic arsenic. | CTD_human |
null | null | Negative | MESH:D009336 | null | null | tumor necrosis factor a | 24248 | null | catalase | null | 28,033,582 | Biochemical analysis of serum samples and sciatic nerve and dorsal root ganglion (DRG) lysates showed restoration or improvement of nuclear factor-<kappa>B (NF-kB), malondialdehyde (MDA) level, activity of superoxide dismutase (SOD), catalase, tumor necrosis factor a (TNFa), and interleukin 1b (IL-1b) upon diosgenin treatment of diabetic rats. | null | null | null |
6 | 1 | Biomarker | C0009207 | Cockayne Syndrome | disease | CS | 2074 | ERCC6 | CSB | CTD_human | 25,440,059 | Cockayne syndrome (CS) is an accelerated aging disorder characterized by progressive neurodegeneration caused by mutations in genes encoding the DNA repair proteins CS group A or B (CSA or CSB). | 0.24486 | <span class="disease" id="25440059-1-0-17">Cockayne syndrome</span> (<span class="disease" id="25440059-1-19-21">CS</span>) is an accelerated aging disorder characterized by progressive neurodegeneration caused by mutations in genes encoding the DNA repair proteins <span class="disease" id="25440059-1-165-167">CS</span> group A or B (CSA or <span class="gene" id="25440059-1-189-192">CSB</span>). | CTD_human |
null | null | Negative | MESH:D007249 | null | null | inflammation | 235504 | null | aspartate transaminase | null | 28,152,447 | Blood and liver samples were collected to detect alanine transaminase (ALT), aspartate transaminase (AST), inflammation, oxidative stress and antioxidant systems, and to observe histopathologic changes and key proteins in the mitogen-activated protein kinase (MAPK) family. | null | null | null |
null | null | Negative | MESH:D020271 | null | null | inherited neurodegenerative disorder | 29424 | null | huntingtin | null | 28,153,533 | Huntington disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by a CAG repeat expansion in the gene coding for the huntingtin protein (HTT). | null | null | null |
null | null | Negative | MESH:D007511 | null | null | ischemia | 24088 | null | TLR2 | null | 28,139,935 | Here, we report that systemic activation of TLR2 by Pam3CSK4 (P3C) increases neural tissue loss and demyelination induced by subsequent hypoxia-ischemia (HI) in neonatal mice. | null | null | null |
null | null | Negative | MESH:D002292 | null | null | granule cell layer | 64396 | null | GCL | null | 28,168,441 | On PND 21, male offspring showed increased postmitotic neuron-specific NeuN-immunoreactive<sup>(+)</sup> granule cell numbers in the dentate subgranular zone (SGZ) and granule cell layer (GCL) and decreased glutamate receptor gene Grin2d levels in the dentate gyrus at 1200 ppm. | null | null | null |
null | null | Negative | MESH:C531816 | null | null | CD | 2067 | null | ERCC1 | null | 28,016,051 | METHODS: mRNA enzyme levels (MEL) of ERCC1, RRM1, DOCK, and CD were determined using quantitative realtime PCR (Taqman) in microdissected paraffin-embedded tumor from treatment-na ve patients with locally advanced or metastatic BC who received G and a platinum agent. | null | null | null |
1 | 0 | Biomarker | C0038013 | Ankylosing spondylitis | disease | ankylosing spondylitis | 9755 | TBKBP1 | TBKBP1 | CTD_human | 21,743,469 | Here we report the identification of three variants in the RUNX3, LTBR-TNFRSF1A and IL12B regions convincingly associated with ankylosing spondylitis (P < 5 × 10(-8) in the combined discovery and replication datasets) and a further four loci at PTGER4, TBKBP1, ANTXR2 and CARD9 that show strong association across all our datasets (P < 5 × 10(-6) overall, with support in each of the three datasets studied). | 0.200824 | Here we report the identification of three variants in the RUNX3, LTBR-TNFRSF1A and IL12B regions convincingly associated with <span class="disease" id="21743469-2-127-149">ankylosing spondylitis</span> (P < 5 × 10(-8) in the combined discovery and replication datasets) and a further four loci at PTGER4, <span class="gene" id="21743469-2-253-259">TBKBP1</span>, ANTXR2 and CARD9 that show strong association across all our datasets (P < 5 × 10(-6) overall, with support in each of the three datasets studied). | CTD_human |
null | null | Negative | MESH:D001249 | null | null | asthma | 20274 | null | NaV1.7 | null | 28,138,042 | These results may suggest novel indications for NaV1.7-blocking drugs, in which there is an overactive parasympathetic drive, such as in asthma. | null | null | null |
null | null | Negative | MESH:D005355 | null | null | fibrosis | 110196 | null | FPPS | null | 28,008,986 | In our previous studies, we find that inhibition of FPPS attenuates angiotensin II-induced cardiac hypertrophy and fibrosis by suppressing RhoA while FPPS and Ras are up-regulated in pressure overload rats. | null | null | null |
2 | 1 | Biomarker | C0027819 | Neuroblastoma | disease | neuroblastoma | 389421 | LIN28B | LIN28B | CTD_human | 23,042,116 | LIN28B induces neuroblastoma and enhances MYCN levels via let-7 suppression. | 0.402198 | <span class="gene" id="23042116-0-0-6">LIN28B</span> induces <span class="disease" id="23042116-0-15-28">neuroblastoma</span> and enhances MYCN levels via let-7 suppression. | CTD_human;ORPHANET |
null | null | Negative | MESH:D055370 | null | null | lung injury | 114105 | null | CXCL2 | null | 28,008,677 | Animals that received LPS showed significant increase in a lung injury scoring system, inflammatory cells in bronchoalveolar lavage (BAL) and IL-6, TNF-a and CXCL2 mRNA expression in lung tissue. | null | null | null |
2 | 0 | Biomarker | C0018995 | Hemochromatosis | disease | Hfe | 654 | BMP6 | BMP6 | CTD_human | 19,252,488 | The iron burden in Bmp6 mutant mice is significantly greater than that in mice deficient in the gene associated with classical hemochromatosis (Hfe), suggesting that mutations in BMP6 might cause iron overload in humans with severe juvenile hemochromatosis for which the genetic basis has not yet been characterized. | 0.200824 | The iron burden in <span class="gene" id="19252488-8-19-23">Bmp6</span> mutant mice is significantly greater than that in mice deficient in the gene associated with classical <span class="disease" id="19252488-8-127-142">hemochromatosis</span> (<span class="disease" id="19252488-8-144-147">Hfe</span>), suggesting that mutations in <span class="gene" id="19252488-8-179-183">BMP6</span> might cause iron overload in humans with severe juvenile hemochromatosis for which the genetic basis has not yet been characterized. | CTD_human |
1 | 0 | Biomarker | C0025202 | melanoma | disease | melanomas | 23512 | SUZ12 | SUZ12 | CTD_human | 25,119,042 | Here we provide genomic, cellular, and mouse modelling data demonstrating that the polycomb group gene SUZ12 functions as tumour suppressor in PNS tumours, high-grade gliomas and melanomas by cooperating with mutations in NF1. | 0.200275 | Here we provide genomic, cellular, and mouse modelling data demonstrating that the polycomb group gene <span class="gene" id="25119042-3-103-108">SUZ12</span> functions as tumour suppressor in PNS tumours, high-grade gliomas and <span class="disease" id="25119042-3-179-188">melanomas</span> by cooperating with mutations in NF1. | CTD_human |
24 | 0 | Biomarker | C0002736 | Amyotrophic Lateral Sclerosis | disease | ALS | 6647 | SOD1 | SOD1 | CTD_human | 17,496,168 | In SOD1(G93A) transgenic mice, a model of familial ALS, TRO19622 treatment improved motor performance, delayed the onset of the clinical disease, and extended survival. | 0.798512 | In <span class="gene" id="17496168-6-3-7">SOD1</span>(G93A) transgenic mice, a model of familial <span class="disease" id="17496168-6-51-54">ALS</span>, TRO19622 treatment improved motor performance, delayed the onset of the clinical disease, and extended survival. | CTD_human;HPO;ORPHANET |
null | null | Negative | MESH:D003924 | null | null | type 2 diabetes | 69710 | null | CENTD2 | null | 28,132,686 | Genetic variants near ARAP1 (CENTD2) and STARD10 influence type 2 diabetes (T2D) risk. | null | null | null |
null | null | Negative | MESH:D001169 | null | null | collagen-induced arthritis | 110072 | null | PAD4 | null | 28,128,853 | This present study was undertaken to explore the efficacy of a novel PAD4-selective inhibitor, GSK199, in the murine collagen-induced arthritis model of rheumatoid arthritis. | null | null | null |
null | null | Negative | MESH:D056486 | null | null | liver injury | 106759 | null | TRIF | null | 28,165,624 | Studies utilizing global knockouts of MyD88 and TRIF identified a predominant role for TRIF signaling in the progression of EtOH-induced liver injury. | null | null | null |
4 | 0 | Biomarker | C1263846 | Attention deficit hyperactivity disorder | disease | hyperactivity disorder | 6531 | SLC6A3 | dopamine transporter | CTD_human | 22,034,972 | Loss of striatal cannabinoid CB1 receptor function in attention-deficit?/?hyperactivity disorder mice with point-mutation of the dopamine transporter. | 0.416551 | Loss of striatal cannabinoid CB1 receptor function in attention-deficit?/?<span class="disease" id="22034972-0-74-96">hyperactivity disorder</span> mice with point-mutation of the <span class="gene" id="22034972-0-129-149">dopamine transporter</span>. | CTD_human |
2 | 0 | Biomarker | C0023903 | Liver neoplasms | group | liver tumor | 1499 | CTNNB1 | Ctnnb1 | CTD_human | 21,047,994 | The prevalence of tumors in Ctnnb1 KO mice was ?7-fold higher than in wild-type mice, suggesting an enhancing effect of the gene KO on liver tumor development. | 0.209246 | The prevalence of tumors in <span class="gene" id="21047994-7-28-34">Ctnnb1</span> KO mice was ∼7-fold higher than in wild-type mice, suggesting an enhancing effect of the gene KO on <span class="disease" id="21047994-7-135-146">liver tumor</span> development. | CTD_human |
3 | 52 | Biomarker | C0007194 | Hypertrophic Cardiomyopathy | disease | HCM | 4607 | MYBPC3 | MYBPC3 | CTD_human | 22,076,249 | Hypertrophic cardiomyopathy (HCM) is characterized by asymmetric septal hypertrophy and is often caused by mutations in MYBPC3 gene encoding cardiac myosin-binding protein C. In contrast to humans, who are already affected at the heterozygous state, mouse models develop the phenotype mainly at the homozygous state. | 0.496363 | <span class="disease" id="22076249-1-0-27">Hypertrophic cardiomyopathy</span> (<span class="disease" id="22076249-1-29-32">HCM</span>) is characterized by asymmetric septal hypertrophy and is often caused by mutations in <span class="gene" id="22076249-1-120-126">MYBPC3</span> gene encoding cardiac myosin-binding protein C. In contrast to humans, who are already affected at the heterozygous state, mouse models develop the phenotype mainly at the homozygous state. | CTD_human;HPO |
1 | 0 | Biomarker | C0032460 | Polycystic Ovary Syndrome | disease | polycystic ovary syndrome | 5950 | RBP4 | retinol-binding protein 4 | CTD_human | 17,456,573 | Raised serum, adipocyte, and adipose tissue retinol-binding protein 4 in overweight women with polycystic ovary syndrome: effects of gonadal and adrenal steroids. | 0.205741 | Raised serum, adipocyte, and adipose tissue <span class="gene" id="17456573-0-44-69">retinol-binding protein 4</span> in overweight women with <span class="disease" id="17456573-0-95-120">polycystic ovary syndrome</span>: effects of gonadal and adrenal steroids. | CTD_human |
null | null | Negative | MESH:D016399 | null | null | T-cell lymphoma | 347734 | null | SLL | null | 28,103,725 | A phase 1 study was conducted to determine the dose-limiting toxicities and maximum-tolerated dose (MTD) for bortezomib followed by romidepsin on days 1, 8, and 15 in patients with relapsed/refractory CLL/SLL or B- or T-cell lymphoma. | null | null | null |
1 | 0 | Biomarker | C0023467 | Leukemia, Myelocytic, Acute | disease | acute myeloid leukemia | 596 | BCL2 | Bcl2 | CTD_human | 23,906,301 | Overexpression of Bcl2 protein predicts chemoresistance in acute myeloid leukemia: its correlation with FLT3. | 0.231551 | Overexpression of <span class="gene" id="23906301-0-18-22">Bcl2</span> protein predicts chemoresistance in <span class="disease" id="23906301-0-59-81">acute myeloid leukemia</span>: its correlation with FLT3. | CTD_human |
null | null | Negative | MESH:D007249 | null | null | inflammation | 24179 | null | Agt | null | 28,105,924 | Four of them (Avpr1a, Hsd11b2, Agt, Ephx2) may provoke the hypertension development, and Mpo may contribute to insulin resistance and inflammation in the ISIAH rats. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | cutaneous tumor | 13823 | null | Dal-1 | null | 28,029,283 | SAMPLES 4 canine hemangiosarcoma cell lines (SB-HSA [mouse-passaged cutaneous tumor], Emma [primary metastatic brain tumor], and Frog and Dal-1 [primary splenic tumors]) and 1 nonneoplastic canine endothelial cell line (CnAoEC). | null | null | null |
null | null | Negative | MESH:D046152 | null | null | GIST | 3289073 | null | BFR14 | null | 28,021,169 | METHODS: Pts with D-GIST were identified either via survey from 19 FSG centers (71 pts) or as those enrolled in the BFR14 GIST trial (19 pts). | null | null | null |
null | null | Negative | MESH:D014899 | null | null | Sj gren's syndrome | 695 | null | BTK | null | 28,141,917 | METHODS: Using intracellular flow cytometry, we quantified BTK expression and phosphorylation in subsets of peripheral blood B cells from 30 patients with rheumatoid arthritis (RA), 26 patients with primary Sj gren's syndrome (SS), and matched healthy controls. | null | null | null |
null | null | Negative | MESH:C538322 | null | null | MSI-H | 2956 | null | MSH6 | null | 28,020,315 | Tumor tissue was assessed for morphology, microsatellite instability (MSI-H), microsatellite stability (MSS), Kras and Braf mutations, and expression of mismatch repair (MMR) proteins (MSH2, MLH1, MSH6, PMS2). | null | null | null |
null | null | Negative | MESH:D021081 | null | null | isoform dysregulation | 13385 | 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:C565390 | null | null | MCM | 5540 | null | protein phosphatase 1 | null | 28,077,461 | Here, we demonstrate that human RIF1 negatively regulates DNA replication by forming a complex with protein phosphatase 1 (PP1) that limits phosphorylation-mediated activation of the MCM replicative helicase. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 17768 | null | MTHFD2 | null | 28,059,050 | Moreover, an implanted tumor model in mice indicated that miR-92a overexpression dramatically decreased tumor growth and MTHFD2 expression in vivo. | null | null | null |
2 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | hepatocellular carcinomas | 2305 | FOXM1 | Foxm1b | CTD_human | 15,082,532 | Foxm1b transcription factor is essential for development of hepatocellular carcinomas and is negatively regulated by the p19ARF tumor suppressor. | 0.286593 | <span class="gene" id="15082532-0-0-6">Foxm1b</span> transcription factor is essential for development of <span class="disease" id="15082532-0-60-85">hepatocellular carcinomas</span> and is negatively regulated by the p19ARF tumor suppressor. | CTD_human |
null | null | Negative | MESH:C535600 | null | null | 2-hydroxypropyl-b-cyclodextrin | 7124 | null | TNF-a | null | 28,033,682 | This study compared the in-vitro effects of ropivacaine (ropi) in plain, liposomal (MLV) or 2-hydroxypropyl-b-cyclodextrin (HP-b-CD) formulations on cell viability, apoptosis and cytokine (IL-1a, TNF-a, IL-6 and IL-10) release. | null | null | null |
null | null | Negative | MESH:D020512 | null | null | CCD | 4342 | null | CMOS | null | 28,134,824 | A light source, e.g., a laser diode, is affixed to a movable axis and projects a random geometric shape on an image sensor (CMOS or CCD). | null | null | null |
null | null | Negative | MESH:D007249 | null | null | inflammation | 396880 | null | CXCL8 | null | 28,013,313 | RESULTS: Only severe NEC cases (score of 5-6) were associated with the upregulation of genes involved in inflammation (CCL2, CCL3, CD14, CD163, CXCL8, HP, IL1B, IL1RN, IL6,IL10, NFKBIA, PTGS2 and TNFAIP3) compared to pigs that appeared healthy (score of 1-2) or showed mild NEC (score of 3-4). | null | null | null |
3 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 4879 | NPPB | NPPB | CTD_human | 19,219,041 | Common genetic variants at the NPPA-NPPB locus found to be associated with circulating natriuretic peptide concentrations contribute to interindividual variation in blood pressure and hypertension. | 0.220951 | Common genetic variants at the NPPA-<span class="gene" id="19219041-4-36-40">NPPB</span> locus found to be associated with circulating natriuretic peptide concentrations contribute to interindividual variation in blood pressure and <span class="disease" id="19219041-4-184-196">hypertension</span>. | CTD_human |
null | null | Negative | MESH:D054198 | null | null | ALL | 214162 | null | MLL | null | 28,068,328 | Translocations involving the mixed lineage leukemia-1 are recurrent events in acute leukemia and associate with lymphoid (ALL), myeloid (AML) or mixed lineage (MLL) subtypes. | null | null | null |
1 | 0 | Biomarker | C0030567 | Parkinson Disease | disease | Parkinson's disease | 4217 | MAP3K5 | ASK1 | CTD_human | 21,815,648 | Levodopa activates apoptosis signaling kinase 1 (ASK1) and promotes apoptosis in a neuronal model: implications for the treatment of Parkinson's disease. | 0.203832 | Levodopa activates apoptosis signaling kinase 1 (<span class="gene" id="21815648-0-49-53">ASK1</span>) and promotes apoptosis in a neuronal model: implications for the treatment of <span class="disease" id="21815648-0-133-152">Parkinson's disease</span>. | CTD_human |
null | null | Negative | MESH:D003251 | null | null | stenosis | 963084 | null | CPT-11 | null | 28,133,061 | The patient then received 2 courses of second line chemotherapy consisting of biweekly CPT-11; however, the tumor progressed and caused stenosis of the stomach. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 12306 | null | ANXA2 | null | 28,032,857 | The integration from our omics-based research provides a four molecular pathway foundation (ANXA2/HMGA1/POU3F1; NFRSF13/GSN; TMOD3/RAI14/VWF; and PLAT/PLAU) behind HO-1 regulation of tumor cytoskeletal cell compartments. | null | null | null |
1 | 0 | Biomarker | C0017636 | Glioblastoma | disease | GBM | 8425 | LTBP4 | LTBP4 | CTD_human | 27,270,107 | In recurrent GBM with wild-type IDH1, high LTBP4 expression is associated with worse prognosis, highlighting the TGF-? pathway as a potential therapeutic target in GBM. | 0.2 | In recurrent <span class="disease" id="27270107-8-13-16">GBM</span> with wild-type IDH1, high <span class="gene" id="27270107-8-43-48">LTBP4</span> expression is associated with worse prognosis, highlighting the TGF-β pathway as a potential therapeutic target in <span class="disease" id="27270107-8-164-167">GBM</span>. | CTD_human |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 3198 | HOXA1 | HOXA1 | CTD_human | 11,091,361 | The results support a role for HOXA1 in susceptibility to autism, and add to the existing body of evidence implicating early brain stem injury in the etiology of ASDs. | 0.21002 | The results support a role for <span class="gene" id="11091361-11-31-36">HOXA1</span> in susceptibility to <span class="disease" id="11091361-11-58-64">autism</span>, and add to the existing body of evidence implicating early brain stem injury in the etiology of ASDs. | CTD_human |
2 | 0 | Biomarker | C0038220 | Status Epilepticus | disease | SE | 4803 | NGF | NGF | CTD_human | 8,635,431 | We studied the effects of status epilepticus (SE) induced by lithium chloride/pilocarpine treatment on gene expression of neurotrophins of the nerve growth factor (NGF) family and of their high-affinity receptors of the tyrosine protein kinase (trk) family in the forebrain. | 0.2 | We studied the effects of <span class="disease" id="8635431-1-26-44">status epilepticus</span> (<span class="disease" id="8635431-1-46-48">SE</span>) induced by lithium chloride/pilocarpine treatment on gene expression of neurotrophins of the <span class="gene" id="8635431-1-143-162">nerve growth factor</span> (<span class="gene" id="8635431-1-164-167">NGF</span>) family and of their high-affinity receptors of the tyrosine protein kinase (trk) family in the forebrain. | CTD_human |
null | null | Negative | MESH:D014849 | null | null | Waardenburg syndrome | 18505 | null | Pax3 | null | 28,043,919 | Dense mapping using interval markers narrowed the locus down to a 670-kbp region, containing four genes including Pax3, a gene known to be implicated in the types I and III Waardenburg syndrome. | null | null | null |
null | null | Negative | MESH:D010146 | null | null | pain | 24494 | null | IL-1b | null | 28,068,647 | In addition, the paw edema, pain score, pro-inflammatory cytokines (IL-1b and TNFa) and articular elastase activity were found significantly reduced in berberine (50mg/kgb wt) administered MSU crystal-induced rats. | null | null | null |
null | null | Negative | MESH:D011658 | null | null | pulmonary fibrosis | 24498 | null | IL-6 | null | 28,115,235 | Pirfenidone, a recently approved treatment for idiopathic pulmonary fibrosis (IPF), significantly counteracted bleomycin-induced pro-fibrotic genes expression, but did not exert significant effects on IL-1b and IL-6. | null | null | null |
null | null | Negative | MESH:D056889 | null | null | BTHS | 855969 | null | Odc1p | null | 28,188,263 | Here, we show that overexpressing Odc1p, a conserved oxodicarboxylic acid carrier located in the mitochondrial inner membrane, fully restores oxidative phosphorylation in a yeast model (taz1 ) of BTHS. | null | null | null |
2 | 3 | Biomarker | C3714756 | Intellectual Disability | group | mental retardation | 2332 | FMR1 | FMR1 | CTD_human | 20,425,835 | FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. | 0.256233 | <span class="gene" id="20425835-0-0-4">FMR1</span> gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with <span class="disease" id="20425835-0-84-102">mental retardation</span> and autism. | CTD_human |
9 | 1 | Biomarker | C0001815 | Primary Myelofibrosis | disease | CIMF | 3717 | JAK2 | Janus kinase 2 | CTD_human | 16,951,397 | At the fore front of these advances is the discovery that 35%-55% of patients with CIMF harbor mutations in the Janus kinase 2 tyrosine kinase gene. | 0.381891 | At the fore front of these advances is the discovery that 35%-55% of patients with <span class="disease" id="16951397-3-83-87">CIMF</span> harbor mutations in the <span class="gene" id="16951397-3-112-126">Janus kinase 2</span> tyrosine kinase gene. | CTD_human |
null | null | Negative | MESH:C566610 | null | null | axis | 83430;16171 | null | IL-23/IL-17 | null | 28,191,009 | In tumor tissue of p47phox-/- mice, the IL-23/IL-17 axis was crucially hampered. | null | null | null |
null | null | Negative | MESH:C536108 | null | null | aminopeptidase N | 59272 | null | angiotensin-converting enzyme-2 | 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:D009336 | null | null | necrosis | 25325 | null | IL-10 | null | 28,086,121 | The animals were killed 7days after the treatments, and the mandibles were histologically processed to assess morphological and immunohistochemical profile, while gingival tissues were removed for quantification of tumor necrosis factor (TNF)-a, interleukin (IL-)1b and IL-10 expression (by ELISA). | null | null | null |
64 | 0 | Biomarker | C0002871 | Anemia | disease | anaemia | 2056 | EPO | EPO | CTD_human | 1,982,298 | These findings indicate that the anaemia induced by gentamicin is due not only to a deficiency of EPO but also to an enhancement of fragility of erythrocytes in an azotaemic environment. | 0.24092 | These findings indicate that the <span class="disease" id="1982298-6-33-40">anaemia</span> induced by gentamicin is due not only to a deficiency of <span class="gene" id="1982298-6-98-101">EPO</span> but also to an enhancement of fragility of erythrocytes in an azotaemic environment. | CTD_human |
null | null | Negative | MESH:D009336 | null | null | necrosis | 18613 | null | CD31 | null | 28,058,713 | METHODS: In a mouse model of HCC, effects of sorafenib were determined by tumor size, RFA-induced necrosis area (triphenyltetrazolium chloride staining), microvascular density (MVD; 4',6-diamidino-2-phenylindole and anti-CD31 antibody staining), and tumor perfusion (magnetic resonance imaging). | null | null | null |
null | null | Negative | MESH:D001943 | null | null | breast cancer | 57276 | null | CTX | null | 28,056,464 | METHODS: Murine EMT-6/P breast cancer, or its cisplatin or CTX-resistant variants, or CT-26 colon, were implanted into Balb/c mice. | null | null | null |
1 | 1 | Biomarker | C0338451 | Frontotemporal dementia | disease | frontotemporal dementia | 5663 | PSEN1 | PSEN1 | CTD_human | 11,094,121 | The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia. | 0.609484 | The authors conclude that <span class="gene" id="11094121-4-26-31">PSEN1</span> mutations can be associated with clinical features of <span class="disease" id="11094121-4-86-109">frontotemporal dementia</span>. | CTD_human;HPO;UNIPROT |
96 | 174 | Biomarker | C0019202 | Hepatolenticular Degeneration | disease | Wilson's disease | 540 | ATP7B | ATP7B | CTD_human | 23,789,284 | Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia. | 0.885769 | Mutational analysis of <span class="gene" id="23789284-0-23-28">ATP7B</span> gene and the genotype-phenotype correlation in patients with <span class="disease" id="23789284-0-90-106">Wilson's disease</span> in Serbia. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D017827 | null | null | wild-type | 11820;19164 | null | APP/PS1 | null | 28,027,926 | We subjected wild-type (WT) and transgenic APP/PS1 mice, as a model for amyloid neuropathology, to chronic ES from postnatal day (P)2 to P9. | null | null | null |
null | null | Negative | MESH:D001745 | null | null | Bladder dysfunction | 25505 | null | P2X1 | null | 28,186,672 | Bladder dysfunction caused by MCAO can be improved by hAFSCs transplanting into bladder which may be related to the expressions of bladder NGF, and muscarinic and P2X1 receptors. | null | null | null |
1 | 0 | Biomarker | C3463824 | MYELODYSPLASTIC SYNDROME | group | myelodysplastic syndromes | 2146 | EZH2 | EZH2 | CTD_human | 20,601,954 | Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes. | 0.203846 | Somatic mutations of the histone methyltransferase gene <span class="gene" id="20601954-0-56-60">EZH2</span> in <span class="disease" id="20601954-0-64-89">myelodysplastic syndromes</span>. | CTD_human |
20 | 0 | Biomarker | C0023487 | Acute Promyelocytic Leukemia | disease | acute promyelocytic leukemia | 5371 | PML | PML | CTD_human | 22,213,200 | Expression of PML-RAR? fusion proteins disrupted PML-NB structure and reduced HRR by up to 10-fold, raising the possibility that defective HRR and resulting genomic instability may figure in the pathogenesis, progression and relapse of acute promyelocytic leukemia. | 0.507329 | Expression of <span class="gene" id="22213200-10-14-17">PML</span>-RARα fusion proteins disrupted <span class="gene" id="22213200-10-49-52">PML</span>-NB structure and reduced HRR by up to 10-fold, raising the possibility that defective HRR and resulting genomic instability may figure in the pathogenesis, progression and relapse of <span class="disease" id="22213200-10-236-264">acute promyelocytic leukemia</span>. | CTD_human;ORPHANET |
1 | 0 | Therapeutic | C0015695 | Fatty Liver | disease | hepatic steatosis | 26291 | FGF21 | fibroblast growth factor 21 | CTD_human | 24,184,811 | Hepatic SIRT1 attenuates hepatic steatosis and controls energy balance in mice by inducing fibroblast growth factor 21. | 0.202198 | Hepatic SIRT1 attenuates <span class="disease" id="24184811-0-25-42">hepatic steatosis</span> and controls energy balance in mice by inducing <span class="gene" id="24184811-0-91-118">fibroblast growth factor 21</span>. | CTD_human |
null | null | Negative | MESH:D054069 | null | null | EMA | 999 | null | Ecadherin | null | 28,020,743 | RESULTS: The SVM model integrates three clinicopathologic features (tumor diameter, preoperative hemoglobin level, adjuvant chemotherapy ) and 24 immunomarkers (Survivin, cmyc, CD44v6, MMP7, CK19, P16, PTEN, TIMP1, CyclinE, MMP2, SMAD4, VEGF, MUC2, Ecadherin, Her2, CK20, P27, APC, CD147, cmet, COX2, CDX2, MGMT, EMA). | null | null | null |
null | null | Negative | MESH:D064420 | null | null | toxicity | 12034 | null | BaP | null | 28,043,741 | Our results provide experimental data for the maternal reproductive toxicity of BaP during early pregnancy, which is very important for a comprehensive risk assessment of BaP on human reproductive health. | null | null | null |
2 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 2550 | GABBR1 | GABA(B) receptor | CTD_human | 19,002,745 | Decreases in GABA(B) receptor subunits may help explain the presence of seizures that are often comorbid with autism, as well as cognitive difficulties prevalent in autism. | 0.200275 | Decreases in <span class="gene" id="19002745-7-13-29">GABA(B) receptor</span> subunits may help explain the presence of seizures that are often comorbid with <span class="disease" id="19002745-7-110-116">autism</span>, as well as cognitive difficulties prevalent in <span class="disease" id="19002745-7-165-171">autism</span>. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | cancer | 67731 | null | atrogin-1 | null | 28,177,129 | Compared to wild type cachectic animals, in both respiratory and limb muscles of Parp-1(-/-) and Parp-2(-/-) cachectic mice: cancer induced-muscle wasting characterized by increased PARP activity, protein oxidation, tyrosine release, and ubiquitin-proteasome system (total protein ubiquitination, atrogin-1, and 20S proteasome C8 subunit) were blunted, the reduction in contractile myosin and atrophy of the fibers was attenuated, while no effects were seen in other structural features (inflammatory cells, internal or apoptotic nuclei), and markers of muscle anabolism partly improved. | null | null | null |
2 | 0 | Biomarker | C0027794 | Neural Tube Defects | group | NTD | 4522 | MTHFD1 | MTHFD1 | CTD_human | 12,384,833 | We conclude that genetic variation in the MTHFD1 gene is associated with an increase in the genetically determined risk that a woman will bear a child with NTD and that the gene may be associated with decreased embryo survival. | 0.218614 | We conclude that genetic variation in the <span class="gene" id="12384833-8-42-48">MTHFD1</span> gene is associated with an increase in the genetically determined risk that a woman will bear a child with <span class="disease" id="12384833-8-156-159">NTD</span> and that the gene may be associated with decreased embryo survival. | CTD_human |
null | null | Negative | MESH:D028361 | null | null | hyper-phosphorylation | 12402 | null | CBL | null | 28,082,680 | PRR deletion reduced the stem cell factor (SCF)-induced hyper-phosphorylation of the CBL-Y371H mutant and the c-KIT receptor and eliminated the sustained p-ERK1/2 and p-AKT induction by SCF. | null | null | null |
null | null | Negative | MESH:D064726 | null | null | triple-negative breast cancer | 224171 | null | CIP2A | null | 28,027,514 | We investigated the efficacy and mechanism of TD52, an erlotinib derivative with minimal p-EGFR inhibition but significant CIP2A downregulation, in triple-negative breast cancer (TNBC) cells. | null | null | null |
null | null | Negative | MESH:D007752 | null | null | preterm labor | 21898 | null | LPS | null | 28,139,962 | The aims of this study were to establish a model of intra-amniotic lipopolysaccharide (LPS)-induced preterm labor/birth that resembles the subclinical syndrome and to compare this model to two established models of LPS-induced preterm labor/birth. | null | null | null |
1 | 0 | Biomarker | C0752347 | Lewy Body Disease | disease | DLB | 3481 | IGF2 | IGF-II | CTD_human | 19,276,553 | The results suggest that: 1) IGF-I, IGF-II, and neurotrophin signaling are more impaired in DLB than PD, corresponding with DLB's more pronounced neurodegeneration, oxidative stress, and alpha-synuclein accumulation; 2) MnCl2 exposure causes PD/DLB associated abnormalities in central nervous system neurons, and therefore may contribute to their molecular pathogenesis; and 3) molecular abnormalities in PD/DLB overlap with but are distinguishable from Alzheimer's disease. | 0.200275 | The results suggest that: 1) IGF-I, <span class="gene" id="19276553-6-36-42">IGF-II</span>, and neurotrophin signaling are more impaired in <span class="disease" id="19276553-6-92-95">DLB</span> than PD, corresponding with <span class="disease" id="19276553-6-124-127">DLB</span>'s more pronounced neurodegeneration, oxidative stress, and alpha-synuclein accumulation; 2) MnCl2 exposure causes PD/<span class="disease" id="19276553-6-245-248">DLB</span> associated abnormalities in central nervous system neurons, and therefore may contribute to their molecular pathogenesis; and 3) molecular abnormalities in PD/<span class="disease" id="19276553-6-408-411">DLB</span> overlap with but are distinguishable from Alzheimer's disease. | CTD_human |
1 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 10451 | VAV3 | Vav3 | CTD_human | 21,115,475 | We also report that Ahr- and Vav3-deficient mice display hypertension, tachypnea, and sympathoexcitation. | 0.200275 | We also report that Ahr- and <span class="gene" id="21115475-6-29-33">Vav3</span>-deficient mice display <span class="disease" id="21115475-6-57-69">hypertension</span>, tachypnea, and sympathoexcitation. | CTD_human |
null | null | Negative | MESH:D010051 | null | null | ovarian cancer | 346528 | null | OR2A1 | null | 28,145,423 | These include four loci that were associated (unadjusted P<0.05) with breast cancer (GTF2H2, ZNF385B, NAALADL2 and PSG5), and two loci associated with ovarian cancer (CYP2A7 and OR2A1). | null | null | null |
null | null | Negative | MESH:D014899 | null | null | Sj gren's syndrome | 12229 | null | BTK | null | 28,141,917 | METHODS: Using intracellular flow cytometry, we quantified BTK expression and phosphorylation in subsets of peripheral blood B cells from 30 patients with rheumatoid arthritis (RA), 26 patients with primary Sj gren's syndrome (SS), and matched healthy controls. | null | null | null |
null | null | Negative | MESH:C562592 | null | null | XPF | 142 | null | PARP1 | 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 |
1 | 0 | Biomarker | C0025202 | melanoma | disease | melanoma | 2056 | EPO | erythropoietin | CTD_human | 15,743,794 | Functional erythropoietin autocrine loop in melanoma. | 0.203557 | Functional <span class="gene" id="15743794-0-11-25">erythropoietin</span> autocrine loop in <span class="disease" id="15743794-0-44-52">melanoma</span>. | CTD_human |
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