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3 | 1 | Biomarker | C1832200 | Peroxisome biogenesis disorders | group | peroxisome biogenesis disorders | 5189 | PEX1 | PEX1 | CTD_human | 9,398,847 | Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. | 0.203571 | Mutations in <span class="gene" id="9398847-0-13-17">PEX1</span> are the most common cause of <span class="disease" id="9398847-0-47-78">peroxisome biogenesis disorders</span>. | CTD_human |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 5294 | PIK3CG | PIK3CG | CTD_human | 14,627,686 | Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism. | 0.200549 | Association of INPP1, <span class="gene" id="14627686-0-22-28">PIK3CG</span>, and TSC2 gene variants with <span class="disease" id="14627686-0-58-75">autistic disorder</span>: implications for phosphatidylinositol signalling in <span class="disease" id="14627686-0-129-135">autism</span>. | CTD_human |
1 | 0 | Biomarker | C0022650 | Kidney Calculi | disease | nephrolithiasis | 5443 | POMC | ACTH | CTD_human | 1,324,751 | Thiazide therapy for ACTH-induced hypercalciuria and nephrolithiasis. | 0.2 | Thiazide therapy for <span class="gene" id="1324751-0-21-25">ACTH</span>-induced hypercalciuria and <span class="disease" id="1324751-0-53-68">nephrolithiasis</span>. | CTD_human |
1 | 0 | Biomarker | C0028754 | Obesity | disease | obesity | 2876 | GPX1 | cellular glutathione peroxidase | CTD_human | 15,184,668 | Development of insulin resistance and obesity in mice overexpressing cellular glutathione peroxidase. | 0.200549 | Development of insulin resistance and <span class="disease" id="15184668-0-38-45">obesity</span> in mice overexpressing <span class="gene" id="15184668-0-69-100">cellular glutathione peroxidase</span>. | CTD_human |
null | null | Negative | MESH:D010051 | null | null | ovarian cancer | 672;675 | null | BRCA1/2 | null | 28,023,739 | We investigated the frequency and clinical characteristics, including the treatment response to platinum therapeutics, of germline BRCA1/2 pathogenic mutation carriers in a large population-based prospective cohort of Australian women with ovarian cancer. | null | null | null |
null | null | Negative | MESH:D001943 | null | null | breast tumor | 13601;66402 | null | P85-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 |
1 | 0 | Biomarker | C0025500 | Mesothelioma | disease | mesothelioma | 1734 | DIO2 | type 2 iodothyronine deiodinase | CTD_human | 11,425,850 | The human type 2 iodothyronine deiodinase is a selenoprotein highly expressed in a mesothelioma cell line. | 0.2 | The human <span class="gene" id="11425850-0-10-41">type 2 iodothyronine deiodinase</span> is a selenoprotein highly expressed in a <span class="disease" id="11425850-0-83-95">mesothelioma</span> cell line. | CTD_human |
1 | 0 | Biomarker | C0017636 | Glioblastoma | disease | glioblastoma | 5071 | PARK2 | PARK2 | CTD_human | 19,946,270 | Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies. | 0.200824 | Somatic mutations of the Parkinson's disease-associated gene <span class="gene" id="19946270-0-61-66">PARK2</span> in <span class="disease" id="19946270-0-70-82">glioblastoma</span> and other human malignancies. | CTD_human |
null | null | Negative | MESH:D001927 | null | null | increased structural damage | 68527 | null | Ucma | null | 28,086,000 | DMM-triggered cartilage changes, including increased structural damage, proteoglycan loss, and chondrocyte cell death, were aggravated in Ucma-deficient mice compared to WT littermates, thereby demonstrating the potential chondroprotective effects of UCMA. | null | null | null |
null | null | Negative | MESH:D009362 | null | null | venous invasion | 53366 | null | sm2 | null | 28,053,807 | In multivariate analysis, older age, male gender, tumor depth (sm2 and sm3 invasion), and venous invasion were independent risk factors for tumor recurrence. | null | null | null |
2 | 0 | Biomarker | C0027627 | Neoplasm Metastasis | phenotype | metastasis | 7124 | TNF | TNF? | CTD_human | 23,431,386 | In this study, we showed that TNF? induces EMT in human HCT116 cells and thereby promotes colorectal cancer (CRC) invasion and metastasis. | 0.224371 | In this study, we showed that <span class="gene" id="23431386-4-30-34">TNFα</span> induces EMT in human HCT116 cells and thereby promotes colorectal cancer (CRC) invasion and <span class="disease" id="23431386-4-127-137">metastasis</span>. | CTD_human |
null | null | Negative | MESH:D020271 | null | null | autosomal dominant neurodegenerative disorder | 3064 | null | huntingtin | null | 28,111,121 | Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder characterized by chorea, behavioural and psychiatric manifestations, and dementia, caused by a CAG triplet repeat expansion in the huntingtin gene. | null | null | null |
null | null | Negative | MESH:D017092 | null | null | CEP | 2321 | null | VEGFR1 | null | 28,023,002 | soluble VEGFR2, VEGFR1, VEGF, bFGF, Collagen IV (by ELISA) and circulating endothelial and progenitors cells (CEC and CEP, by flow cytometry). | null | null | null |
null | null | Negative | MESH:C538265 | null | null | attenuate anorexia | 328 | null | APX | null | 28,025,863 | Specifically, we investigated whether a lesion of the AP (APX) or subdiaphragmatic vagal deafferentation (SDA) attenuate anorexia, body weight, muscle, and fat loss. | null | null | null |
null | null | Negative | MESH:D000699 | null | null | analgesia | 1576 | null | CYP3A4 | null | 28,121,959 | Sufentanil, a synthetic opioid commonly used for the induction and maintenance of general anesthesia, analgesia, and sedation, is mainly metabolized by CYP3A4. | null | null | null |
null | null | Negative | MESH:D015785 | null | null | retina or the cornea | 5362 | null | OCT | null | 28,187,469 | These systems offer high-resolution, intraoperative OCT scans in real-time and provide additional information on microstructures of the retina or the cornea. | null | null | null |
1 | 0 | Biomarker | C0023903 | Liver neoplasms | group | liver tumor | 196 | AHR | AHR | CTD_human | 19,996,281 | To test this hypothesis and determine whether the mouse Ahr gene acts as a tumor suppressor gene in vivo, we have examined the role of Ahr ablation in liver tumorigenesis induced by the genotoxic chemical diethylnitrosamine (DEN), a hepatic carcinogen that is not an AHR ligand.In mice given a single i.p. injection of DEN, AHR antagonized liver tumor formation and growth by regulating cell proliferation, inflammatory cytokine expression, and DNA damage, parameters which were significantly elevated in the livers of control and, more so, of DEN-exposed Ahr-/- mice. | 0.206593 | To test this hypothesis and determine whether the mouse <span class="gene" id="19996281-4-56-59">Ahr</span> gene acts as a tumor suppressor gene in vivo, we have examined the role of Ahr ablation in liver tumorigenesis induced by the genotoxic chemical diethylnitrosamine (DEN), a hepatic carcinogen that is not an <span class="gene" id="19996281-4-267-270">AHR</span> ligand.In mice given a single i.p. injection of DEN, <span class="gene" id="19996281-4-324-327">AHR</span> antagonized <span class="disease" id="19996281-4-340-351">liver tumor</span> formation and growth by regulating cell proliferation, inflammatory cytokine expression, and DNA damage, parameters which were significantly elevated in the livers of control and, more so, of DEN-exposed Ahr-/- mice. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | inha/Tag adrenal tumors | 19116 | null | Prlr-rs1 | null | 28,131,743 | Besides earlier reported Gata4 and Lhcgr, we found up-regulated Esr1, Prlr-rs1, and down-regulated Grb10, Mmp24, Sgcd, Rerg, Gnas, Nfatc2, Gnrhr, Igf2 in inha/Tag adrenal tumors. | null | null | null |
2 | 0 | Biomarker | C0030567 | Parkinson Disease | disease | PD | 100359403 | PARK16 | PARK16 | CTD_human | 19,915,576 | By comparing results of a GWAS performed on individuals of European ancestry, we identified PARK16, SNCA and LRRK2 as shared risk loci for PD and BST1 and MAPT as loci showing population differences. | 0.208451 | By comparing results of a GWAS performed on individuals of European ancestry, we identified <span class="gene" id="19915576-4-92-98">PARK16</span>, SNCA and LRRK2 as shared risk loci for <span class="disease" id="19915576-4-139-141">PD</span> and BST1 and MAPT as loci showing population differences. | CTD_human |
null | null | Negative | MESH:C536528 | null | null | LPS | 24498 | null | IL-6 | null | 28,125,988 | RESULTS: H-RN inhibited IL-6, monocyte chemotactic protein-1(MCP-1), Interferon- y(IFN-y), and ICAM-1 expression triggered by LPS or poly(I:C), alleviated the clinical manifestation and reduced the clinical score in keratitis in vivo. | null | null | null |
null | null | Negative | MESH:D001919 | null | null | HDR | 7161556 | null | VS2000 | null | 28,047,674 | An Ir-192 HDR source (VS2000, VariSource iX) with an effective active length of 5 mm was introduced using a 17-gauge stainless steel needle below the sheet. | null | null | null |
1 | 0 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | NSCLC | 332 | BIRC5 | survivin | CTD_human | 16,382,892 | Univariate analysis (log-rank test) showed that significant independent prognostic factors in NSCLC included: stage of the disease according to TNM classification (p = 0.006), response to chemotherapy (p = 0.005) and pattern of survivin gene expression (p = 0.00003). | 0.20467 | Univariate analysis (log-rank test) showed that significant independent prognostic factors in <span class="disease" id="16382892-10-94-99">NSCLC</span> included: stage of the disease according to TNM classification (p = 0.006), response to chemotherapy (p = 0.005) and pattern of <span class="gene" id="16382892-10-228-236">survivin</span> gene expression (p = 0.00003). | CTD_human |
3 | 0 | Biomarker | C0011884 | Diabetic Retinopathy | disease | diabetic retinopathy | 7422 | VEGFA | VEGF | CTD_human | 11,978,667 | A common polymorphism in the 5'-untranslated region of the VEGF gene is associated with diabetic retinopathy in type 2 diabetes. | 0.293611 | A common polymorphism in the 5'-untranslated region of the <span class="gene" id="11978667-0-59-63">VEGF</span> gene is associated with <span class="disease" id="11978667-0-88-108">diabetic retinopathy</span> in type 2 diabetes. | CTD_human |
69 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 183 | AGT | Angiotensin II | CTD_human | 12,600,921 | Angiotensin II-induced hypertension is associated with NAD(P)H oxidase-dependent superoxide production in the vessel wall. | 0.52 | <span class="gene" id="12600921-1-0-14">Angiotensin II</span>-induced <span class="disease" id="12600921-1-23-35">hypertension</span> is associated with NAD(P)H oxidase-dependent superoxide production in the vessel wall. | CTD_human |
1 | 0 | Biomarker | C1458155 | Mammary Neoplasms | group | breast tumors | 131965 | METTL6 | METTL6 | CTD_human | 25,151,356 | The genes identified include eight that are essential for cell proliferation (FGD5, METTL6, CPT1A, DTX3, MRPS23, EIF2S2, EIF6 and SLC2A10) and are uniquely amplified in patients with highly proliferative luminal breast tumors, a clinical subset of patients for which few therapeutic options are effective. | 0.2 | The genes identified include eight that are essential for cell proliferation (FGD5, <span class="gene" id="25151356-4-84-90">METTL6</span>, CPT1A, DTX3, MRPS23, EIF2S2, EIF6 and SLC2A10) and are uniquely amplified in patients with highly proliferative luminal <span class="disease" id="25151356-4-212-225">breast tumors</span>, a clinical subset of patients for which few therapeutic options are effective. | CTD_human |
null | null | Negative | MESH:D017827 | null | null | type | 19016 | null | Pparg | null | 28,182,703 | Total-body deletion of the two Pparg alleles provoked generalized lipoatrophy along with severe type 2 diabetes. | null | null | null |
null | null | Negative | MESH:C565957 | null | null | ALS | 2043 | null | EphA4 | null | 28,196,613 | While the exact mechanisms responsible for the therapeutic effect of the new agonists remain to be elucidated, we believe that the described agent represents both an invaluable pharmacological tool to further decipher the role of the EphA4 in ALS and potentially other human diseases, and a significant stepping stone for the development of novel treatments. | null | null | null |
null | null | Negative | MESH:D001327 | null | null | autoimmune diseases | 22035 | null | TRAIL | null | 28,189,478 | Our data showed that different effects of rosarin and rosavin on TRAIL expression can involve distinct action on ERK signaling and hence highlighted their potential to manipulate TRAIL as a tool to rescue the resistance to apoptosis in autoimmune diseases and cancer. | null | null | null |
null | null | Negative | MESH:D020518 | null | null | HT | 5159 | null | IMF 1 | null | 28,110,742 | The optimal frequency threshold by using FFT (or HT) for IMF 1 was 21.08 (or 25.00) Hz. | null | null | null |
1 | 0 | Biomarker | C0034155 | Purpura, Thrombotic Thrombocytopenic | disease | TTP | 7056 | THBD | TM | CTD_human | 7,740,478 | Plasma TFPI levels might reflect injury of vascular endothelial cells as do plasma TM levels, and decreased plasma TFPI/TF ratio and vascular endothelial cell injuries might play causative roles in TTP. | 0.2 | Plasma TFPI levels might reflect injury of vascular endothelial cells as do plasma <span class="gene" id="7740478-9-83-85">TM</span> levels, and decreased plasma TFPI/TF ratio and vascular endothelial cell injuries might play causative roles in <span class="disease" id="7740478-9-198-201">TTP</span>. | CTD_human |
3 | 0 | Biomarker | C0019202 | Hepatolenticular Degeneration | disease | Wilson disease | 1356 | CP | ceruloplasmin | CTD_human | 22,243,965 | Low copper and ceruloplasmin in serum are the diagnostic hallmarks for Menkes disease, Wilson disease, and aceruloplasminemia. | 0.211264 | Low copper and <span class="gene" id="22243965-1-15-28">ceruloplasmin</span> in serum are the diagnostic hallmarks for Menkes disease, <span class="disease" id="22243965-1-87-101">Wilson disease</span>, and aceruloplasminemia. | CTD_human |
null | null | Negative | MESH:D007249 | null | null | vascular inflammation | 18566 | null | PD-1 | null | 28,115,719 | In human artery-SCID chimeras, PD-1 blockade exacerbated vascular inflammation, enriched for PD-1<sup>+</sup> effector T cells, and amplified tissue production of multiple T-cell effector cytokines, including IFN-y, IL-17, and IL-21. | null | null | null |
1 | 0 | Biomarker | C0023434 | Chronic Lymphocytic Leukemia | disease | B-CLL | 7157 | TP53 | p53 | CTD_human | 16,439,677 | The induction of p53 by nutlin-3 in B-CLL samples was accompanied by alterations of the mitochondrial potential and activation of the caspase-dependent apoptotic pathway. | 0.512366 | The induction of <span class="gene" id="16439677-5-17-20">p53</span> by nutlin-3 in <span class="disease" id="16439677-5-36-41">B-CLL</span> samples was accompanied by alterations of the mitochondrial potential and activation of the caspase-dependent apoptotic pathway. | CTD_human;ORPHANET |
1 | 0 | Biomarker | C0007282 | Carotid Stenosis | disease | carotid stenosis | 348 | APOE | apolipoprotein E | CTD_human | 17,243,563 | Association of methylenetetrahydrofolate (MTHFR) and apolipoprotein E (apo E) genotypes with homocysteine, vitamin and lipid levels in carotid stenosis. | 0.210727 | Association of methylenetetrahydrofolate (MTHFR) and <span class="gene" id="17243563-0-53-69">apolipoprotein E</span> (apo E) genotypes with homocysteine, vitamin and lipid levels in <span class="disease" id="17243563-0-135-151">carotid stenosis</span>. | CTD_human |
1 | 0 | Biomarker | C0031117 | Peripheral Neuropathy | group | peripheral neuropathy | 1806 | DPYD | DPYD | CTD_human | 20,864,405 | Late-onset vincristine-induced peripheral neuropathy was associated with the presence of SNPs in genes involved in absorption, distribution, metabolism, and excretion-eg, rs1413239 in DPYD (3·29, 1·47-7·37, 5·40×10(-3)) and rs3887412 in ABCC1 (3·36, 1·47-7·67, p=5·70×10(-3)). | 0.200275 | Late-onset vincristine-induced <span class="disease" id="20864405-14-31-52">peripheral neuropathy</span> was associated with the presence of SNPs in genes involved in absorption, distribution, metabolism, and excretion-eg, rs1413239 in <span class="gene" id="20864405-14-184-188">DPYD</span> (3·29, 1·47-7·37, 5·40×10(-3)) and rs3887412 in ABCC1 (3·36, 1·47-7·67, p=5·70×10(-3)). | CTD_human |
69 | 0 | Therapeutic | C0020538 | Hypertensive disease | group | hypertension | 183 | AGT | angiotensin II | CTD_human | 1,849,535 | The antihypertensive effect of calcitonin gene-related peptide in rats with norepinephrine- and angiotensin II-induced hypertension. | 0.52 | The antihypertensive effect of calcitonin gene-related peptide in rats with norepinephrine- and <span class="gene" id="1849535-0-96-110">angiotensin II</span>-induced <span class="disease" id="1849535-0-119-131">hypertension</span>. | CTD_human |
1 | 0 | Biomarker | C0027627 | Neoplasm Metastasis | phenotype | metastases | 1612 | DAPK1 | DAPK1 | CTD_human | 17,319,784 | Loss of DAPK1 expression is associated with a selective advantage for tumor cells to resist apoptotic stimuli, allowing them to separate from the original tumor; from this point of view, DAPK1 could be considered a tumor metastases inhibitor gene. | 0.201374 | Loss of <span class="gene" id="17319784-2-8-13">DAPK1</span> expression is associated with a selective advantage for tumor cells to resist apoptotic stimuli, allowing them to separate from the original tumor; from this point of view, <span class="gene" id="17319784-2-187-192">DAPK1</span> could be considered a tumor <span class="disease" id="17319784-2-221-231">metastases</span> inhibitor gene. | CTD_human |
null | null | Negative | MESH:C538336 | null | null | NHS | 5954 | null | RCN | null | 28,091,306 | UNASSIGNED: The cuts afflicting the NHS across the UK are causing widespread concern among nurses, RCN president Andrea Spyropoulos said in her opening address to this year's congress. | null | null | null |
null | null | Negative | MESH:D013224 | null | null | asthmatic | 3578 | null | IL-9 | null | 28,105,134 | mRNA expression levels of IL-9, STAT6, and IRF4 in PBMCs from healthy controls and asthmatic patients were detected by reverse transcription-quantitative polymerase chain reaction. | null | null | null |
null | null | Negative | MESH:D015299 | null | null | discitis | 28891 | null | L2-3 | null | 28,053,757 | The patient's clinical course began when he was diagnosed with L2-3 and L3-4 osteomyelitis, discitis and myositis of the bilateral paraspinous muscles. | null | null | null |
3 | 0 | Biomarker | C0027726 | Nephrotic Syndrome | group | Nephrotic syndrome | 7040 | TGFB1 | TGF-beta 1 | CTD_human | 8,023,968 | Nephrotic syndrome induced by puromycin aminonucleoside (PAN) is characterized by tubulointerstitial (TI) inflammation, foci of TI fibrosis, and increased renal mRNA levels for matrix genes, the tissue inhibitor of metalloproteinases (TIMP), and the transforming growth factor-beta 1 (TGF-beta 1). | 0.208148 | <span class="disease" id="8023968-1-0-18">Nephrotic syndrome</span> induced by puromycin aminonucleoside (PAN) is characterized by tubulointerstitial (TI) inflammation, foci of TI fibrosis, and increased renal mRNA levels for matrix genes, the tissue inhibitor of metalloproteinases (TIMP), and the <span class="gene" id="8023968-1-250-283">transforming growth factor-beta 1</span> (<span class="gene" id="8023968-1-285-295">TGF-beta 1</span>). | CTD_human |
1 | 0 | Biomarker | C0007134 | Renal Cell Carcinoma | disease | RCC | 10950 | BTG3 | BTG3 | CTD_human | 19,221,000 | This is the first report to show that BTG3 is epigenetically silenced in RCC and can be reactivated by genistein-induced promoter demethylation and active histone modification. | 0.200275 | This is the first report to show that <span class="gene" id="19221000-11-38-42">BTG3</span> is epigenetically silenced in <span class="disease" id="19221000-11-73-76">RCC</span> and can be reactivated by genistein-induced promoter demethylation and active histone modification. | CTD_human |
1 | 0 | Biomarker | C0162568 | Erythropoietic Protoporphyria | disease | EPP | 2069 | EREG | epiregulin | CTD_human | 19,267,999 | We observed that the expression of amphiregulin, betacellulin and epiregulin was significantly increased in young EPP mice when compared to aged-matched controls in all genetic backgrounds. | 0.2 | We observed that the expression of amphiregulin, betacellulin and <span class="gene" id="19267999-6-66-76">epiregulin</span> was significantly increased in young <span class="disease" id="19267999-6-114-117">EPP</span> mice when compared to aged-matched controls in all genetic backgrounds. | CTD_human |
null | null | Negative | MESH:D020391 | null | null | FacioScapuloHumeral Muscular Dystrophy | 2489 | null | FSHD | null | 28,040,729 | FacioScapuloHumeral Muscular Dystrophy (FSHD), one of the most common myopathies, is characterized by a complex interplay of genetic and epigenetic events. | null | null | null |
1 | 0 | Biomarker | C0028754 | Obesity | disease | obese | 6580 | SLC22A1 | OCT1 | CTD_human | 20,956,498 | OCT1 Expression in adipocytes could contribute to increased metformin action in obese subjects. | 0.200549 | <span class="gene" id="20956498-0-0-4">OCT1</span> Expression in adipocytes could contribute to increased metformin action in <span class="disease" id="20956498-0-80-85">obese</span> subjects. | CTD_human |
1 | 0 | Therapeutic | C0007131 | Non-Small Cell Lung Carcinoma | disease | NSCLC | 406913 | MIR126 | hsa-miR-126 | CTD_human | 20,097,187 | The first aim of this study was to confirm a role for three miRNAs (let-7a, hsa-miR-126, and hsa-miR-145) in the inhibition of proliferation in non-small cell lung cancer (NSCLC) cells. | 0.203297 | The first aim of this study was to confirm a role for three miRNAs (let-7a, <span class="gene" id="20097187-5-76-87">hsa-miR-126</span>, and hsa-miR-145) in the inhibition of proliferation in <span class="disease" id="20097187-5-144-170">non-small cell lung cancer</span> (<span class="disease" id="20097187-5-172-177">NSCLC</span>) cells. | CTD_human |
29 | 117 | Therapeutic | C0268542 | Ornithine carbamoyltransferase deficiency | disease | OTC deficiency | 5009 | OTC | OTC | CTD_human | 19,669,271 | Analysis of the OTC gene showed a Pro-225-Thr (P225T) change in exon 7, a mutation that has been previously implicated in OTC deficiency. | 0.699426 | Analysis of the <span class="gene" id="19669271-9-16-19">OTC</span> gene showed a Pro-225-Thr (P225T) change in exon 7, a mutation that has been previously implicated in <span class="disease" id="19669271-9-122-136">OTC deficiency</span>. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C0003469 | Anxiety Disorders | group | anxiety disorder | 5265 | SERPINA1 | AAT | CTD_human | 17,659,342 | Proportion of reactive airway disease, obstructive pulmonary disease, and pre-existing anxiety disorder or bipolar disorder were significantly increased in persons carrying AAT non-M polymorphisms compared to normal MM genotype (respectively, 10, 20, 21, and 33% compared to 8, 12, 11, and 9%; contingency table, pulmonary: chi2 37, p=0.0001; affective disorder: chi2=171, p=0.0001). | 0.200549 | Proportion of reactive airway disease, obstructive pulmonary disease, and pre-existing <span class="disease" id="17659342-8-87-103">anxiety disorder</span> or bipolar disorder were significantly increased in persons carrying <span class="gene" id="17659342-8-173-176">AAT</span> non-M polymorphisms compared to normal MM genotype (respectively, 10, 20, 21, and 33% compared to 8, 12, 11, and 9%; contingency table, pulmonary: chi2 37, p=0.0001; affective disorder: chi2=171, p=0.0001). | CTD_human |
null | null | Negative | MESH:D008059 | null | null | deficient in mucopolysaccharidosis (MPS) I | 411 | null | arylsulfatase B | null | 28,088,454 | BACKGROUND: The goal of this study was to assess the biochemical parameters of the enzymes a-l-iduronidase (IDUA) and arylsulfatase B (ASB), which are deficient in mucopolysaccharidosis (MPS) I and VI, respectively, in dried blood spot (DBS) samples impregnated on filter paper. | null | null | null |
null | null | Negative | MESH:C535669 | null | null | actinic cheilitis | 5925 | null | Rb | null | 28,022,225 | However, squamous cell carcinoma showed higher frequency (93.3%) expression +/++ to Rb protein; actinic cheilitis, 80%; and leukoplakia 73.3% respectively. | null | null | null |
null | null | Negative | MESH:D006528 | null | null | hepatoma | 25236 | null | glypican-3 | null | 28,198,497 | A recent study showed that glypican-3 (GPC3), which is abundant in hepatoma cells, has promising specificity and could be used to determine the presence of malignant cells. | null | null | null |
null | null | Negative | MESH:D007249 | null | null | inflammation | 16153 | null | IL-10 | null | 28,062,696 | IL-27, a multifunctional cytokine produced by APCs, antagonizes inflammation by affecting conventional dendritic cells (cDC), inducing IL-10, and promoting development of regulatory Tr1 cells. | null | null | null |
null | null | Negative | MESH:D016889 | null | null | endometrial epithelial cancer | 16156 | null | IL11 | null | 28,186,993 | Transfection with miR-1 mimic restored miR-1 expression, down-regulated IL11 mRNA and impaired cell viability in grade 3-derived AN3CA human endometrial epithelial cancer cells. | null | null | null |
null | null | Negative | MESH:D000782 | null | null | aneuploidy | 18541 | null | Pcnt | null | 28,193,732 | Pcnt-depleted oocytes from transgenic (Tg) mice were ovulated at the metaphase-II stage, but show significant chromosome misalignment, aneuploidy and premature sister chromatid separation. | null | null | null |
null | null | Negative | OMIM:102530 | null | null | spermatozoa | 6336 | null | Nav 1.8 | null | 28,166,971 | UNASSIGNED: The aim of our study was to characterize the voltage gated sodium channel Nav 1.8 in bull spermatozoa. | null | null | null |
2 | 0 | Biomarker | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | type 2 diabetes | 847 | CAT | Catalase | CTD_human | 15,111,504 | Catalase protects cardiomyocyte function in models of type 1 and type 2 diabetes. | 0.212925 | <span class="gene" id="15111504-0-0-8">Catalase</span> protects cardiomyocyte function in models of type 1 and <span class="disease" id="15111504-0-65-80">type 2 diabetes</span>. | CTD_human |
6 | 2 | Biomarker | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | type 2 diabetes | 169026 | SLC30A8 | SLC30A8 | CTD_human | 20,424,817 | Polymorphisms of ZnT8 (also known as SLC30A8) gene in man are associated with increased risk of type 2 diabetes. | 0.301703 | Polymorphisms of <span class="gene" id="20424817-3-17-21">ZnT8</span> (also known as <span class="gene" id="20424817-3-37-44">SLC30A8</span>) gene in man are associated with increased risk of <span class="disease" id="20424817-3-96-111">type 2 diabetes</span>. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 100034225 | null | IL-4 | null | 28,092,612 | The expression levels of interferon-alpha 1 (IFN-a1), interferon-gamma (IFN-y), interleukin-1b, (IL-1b), IL-2, IL-4, IL-13 and tumor necrosis factor alpha (TNF-a) were measured in the serum obtained from control and RAO-susceptible horses during crisis. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | cervical cancer | 12301 | null | CACYBP | null | 28,163,897 | Using in vitro knockdown experiments for two out of 14 differentially co-expressed genes found in cervical cancer (FGFR2 and CACYBP), we showed that they play regulatory roles in cancer cell growth. | null | null | null |
1 | 0 | Biomarker | C0020626 | Hypoparathyroidism | disease | hypoparathyroidism | 846 | CASR | CaR | CTD_human | 11,701,698 | Thus, mutational analysis of the CaR gene should be considered early in the work-up of isolated hypoparathyroidism. | 0.213367 | Thus, mutational analysis of the <span class="gene" id="11701698-9-33-36">CaR</span> gene should be considered early in the work-up of isolated <span class="disease" id="11701698-9-96-114">hypoparathyroidism</span>. | CTD_human |
2 | 0 | Biomarker | C0023467 | Leukemia, Myelocytic, Acute | disease | AML | 4629 | MYH11 | MYH11 | CTD_human | 27,798,625 | Outside of signaling alterations, RUNX1-RUNX1T1 and CBFB-MYH11 AMLs demonstrated remarkably different spectra of cooperating mutations, as RUNX1-RUNX1T1 cases harbored recurrent mutations in DHX15 and ZBTB7A, as well as an enrichment of mutations in epigenetic regulators, including ASXL2 and the cohesin complex. | 0.225 | Outside of signaling alterations, RUNX1-RUNX1T1 and CBFB-<span class="gene" id="27798625-4-57-62">MYH11</span> <span class="disease" id="27798625-4-63-66">AML</span>s demonstrated remarkably different spectra of cooperating mutations, as RUNX1-RUNX1T1 cases harbored recurrent mutations in DHX15 and ZBTB7A, as well as an enrichment of mutations in epigenetic regulators, including ASXL2 and the cohesin complex. | CTD_human |
null | null | Negative | MESH:D019318 | null | null | PRRSV infection | 406902 | null | miR-10a | null | 28,086,075 | The present study sought to determine the function of miR-10a and its molecular mechanism during PRRSV infection. | null | null | null |
3 | 0 | Biomarker | C0012739 | Disseminated Intravascular Coagulation | disease | Disseminated intravascular coagulation | 462 | SERPINC1 | antithrombin III | CTD_human | 6,233,579 | [Disseminated intravascular coagulation induced by heparin. Treatment with a combination of low-molecular weight heparin and concentrated antithrombin III]. | 0.200824 | [<span class="disease" id="6233579-0-1-39">Disseminated intravascular coagulation</span> induced by heparin. Treatment with a combination of low-molecular weight heparin and concentrated <span class="gene" id="6233579-0-138-154">antithrombin III</span>]. | CTD_human |
null | null | Negative | MESH:D064420 | null | null | cytotoxicity | 28935 | null | A20 | null | 28,110,818 | We examined, cytotoxicity, allergenicity and impact of A20 on the proliferation and viability of human keratinocytes. | null | null | null |
9 | 2 | Biomarker | C0016667 | Fragile X Syndrome | disease | FXS | 2332 | FMR1 | FMR1 | CTD_human | 22,043,169 | Herein, we discuss the molecular mechanisms leading to FXS and the Prader-Willi phenotype with an emphasis on mouse FMR1 knockout studies that have shown the reversal of weight increase through mGluR antagonists. | 0.948716 | Herein, we discuss the molecular mechanisms leading to <span class="disease" id="22043169-8-55-58">FXS</span> and the Prader-Willi phenotype with an emphasis on mouse <span class="gene" id="22043169-8-116-120">FMR1</span> knockout studies that have shown the reversal of weight increase through mGluR antagonists. | CTD_human;ORPHANET;UNIPROT |
4 | 0 | Biomarker | C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | disease | T-ALL | 4851 | NOTCH1 | Notch1 | CTD_human | 24,394,663 | We and others have shown that Notch1 directly regulates c-Myc, a known regulator of quiescence in stem and progenitor populations, leading us to examine whether c-Myc inhibition results in efficient targeting of T-ALL-initiating cells. | 0.254314 | We and others have shown that <span class="gene" id="24394663-3-30-36">Notch1</span> directly regulates c-Myc, a known regulator of quiescence in stem and progenitor populations, leading us to examine whether c-Myc inhibition results in efficient targeting of <span class="disease" id="24394663-3-212-217">T-ALL</span>-initiating cells. | CTD_human |
null | null | Negative | MESH:C566610 | null | null | axis | 6615 | null | Snail | null | 28,176,759 | Thus, the Snail-PFKP axis plays an important role in cancer cell survival via regulation of glucose flux between glycolysis and PPP. | null | null | null |
9 | 0 | Biomarker | C0007134 | Renal Cell Carcinoma | disease | RCC | 7428 | VHL | VHL | CTD_human | 9,137,812 | By comparison to much lower reported VHL mutation frequencies of 33-55% in TRI-unexposed RCC patients, these results indicate a specifically high mutation frequency at the VHL gene in TRI-exposed RCC patients; four of these aberrations have thus far been confirmed as VHL mutations by sequence analysis. | 0.525276 | By comparison to much lower reported VHL mutation frequencies of 33-55% in TRI-unexposed <span class="disease" id="9137812-6-89-92">RCC</span> patients, these results indicate a specifically high mutation frequency at the <span class="gene" id="9137812-6-172-175">VHL</span> gene in TRI-exposed <span class="disease" id="9137812-6-196-199">RCC</span> patients; four of these aberrations have thus far been confirmed as VHL mutations by sequence analysis. | CTD_human;HPO |
null | null | Negative | MESH:D006973 | null | null | hypertension | 14405 | null | GABAA | null | 28,009,705 | OBJECTIVE: Blood pressure high Schlager (BPH/2J) mice have neurogenic hypertension associated with differences in hypothalamic GABAA receptors compared with their normotensive counterparts (BPN/3J). | null | null | null |
null | null | Negative | MESH:D010939 | null | null | PHD | 9678 | null | PHF14 | null | 28,160,558 | In this study, we found that PHF14, a newly identified PHD finger protein, is highly expressed in lung cancer. | null | null | null |
null | null | Negative | MESH:C562729 | null | null | esophageal squamous cell carcinoma | 246100 | null | NY-ESO-1 | null | 28,108,950 | The success of these trials provided the foundation for clinical trials, including recent clinical successes using TCR-engineered T cells to target New York esophageal squamous cell carcinoma (NY-ESO-1). | null | null | null |
null | null | Negative | MESH:D016510 | null | null | angiogenesis | 24835 | null | Tumor necrosis factor alpha | null | 28,209,985 | Tumor necrosis factor alpha (TNFa)-induced angiogenesis plays important roles in the progression of various diseases, including cancer, wet age-related macular degeneration, and rheumatoid arthritis. | null | null | null |
3 | 0 | Biomarker | C0038587 | Substance Withdrawal Syndrome | disease | withdrawal syndrome | 135 | ADORA2A | adenosine A2A receptor | CTD_human | 16,470,403 | Absence of quasi-morphine withdrawal syndrome in adenosine A2A receptor knockout mice. | 0.2 | Absence of quasi-morphine <span class="disease" id="16470403-0-26-45">withdrawal syndrome</span> in <span class="gene" id="16470403-0-49-71">adenosine A2A receptor</span> knockout mice. | CTD_human |
5 | 0 | Biomarker | C0024121 | Lung Neoplasms | group | lung tumors | 3265 | HRAS | Ha-ras | CTD_human | 12,765,245 | Previous studies showed that significant differences in mutation frequency of the human c-Ha-ras transgene between vinyl carbamate (VC)- and ethyl carbamate (urethane)-induced lung tumors were observed in rasH2 mice. | 0.201099 | Previous studies showed that significant differences in mutation frequency of the human c-<span class="gene" id="12765245-1-90-96">Ha-ras</span> transgene between vinyl carbamate (VC)- and ethyl carbamate (urethane)-induced <span class="disease" id="12765245-1-176-187">lung tumors</span> were observed in rasH2 mice. | CTD_human |
16 | 16 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | NSCLC | 1956 | EGFR | EGFR | CTD_human | 22,751,098 | Human non-small cell lung cancers (NSCLCs) with activating mutations in EGFR frequently respond to treatment with EGFR-targeted tyrosine kinase inhibitors (TKIs), such as erlotinib, but responses are not durable, as tumors acquire resistance. | 0.345967 | Human non-small cell lung cancers (<span class="disease" id="22751098-1-35-40">NSCLC</span>s) with activating mutations in <span class="gene" id="22751098-1-72-76">EGFR</span> frequently respond to treatment with <span class="gene" id="22751098-1-114-118">EGFR</span>-targeted tyrosine kinase inhibitors (TKIs), such as erlotinib, but responses are not durable, as tumors acquire resistance. | CTD_human |
69 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 183 | AGT | angiotensin II | CTD_human | 9,024,144 | Role of superoxide in angiotensin II-induced but not catecholamine-induced hypertension. | 0.52 | Role of superoxide in <span class="gene" id="9024144-0-22-36">angiotensin II</span>-induced but not catecholamine-induced <span class="disease" id="9024144-0-75-87">hypertension</span>. | CTD_human |
null | null | Negative | MESH:D006623 | null | null | von Hippel Lindau | 6390 | null | succinate dehydrogenase | null | 28,036,268 | Neuroendocrine neoplasms such as paragangliomas (PGLs) are particularly appealing for understanding the cancer metabolic adjustments because of their associations with deregulations of metabolic enzymes, such as succinate dehydrogenase (SDH), and the von Hippel Lindau (VHL) gene involved in HIF-1a stabilization. | null | null | null |
4 | 2 | Biomarker | C0002395 | Alzheimer's Disease | disease | Alzheimer's disease | 348 | APOE | apolipoprotein E | CTD_human | 8,346,443 | Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. | 0.64 | Gene dose of <span class="gene" id="8346443-0-13-29">apolipoprotein E</span> type 4 allele and the risk of <span class="disease" id="8346443-0-60-79">Alzheimer's disease</span> in late onset families. | CTD_human;HPO |
null | null | Negative | MESH:D011471 | null | null | prostate cancer | 30951 | null | PC-3 | null | 28,136,837 | METHODS: Expression of mRNA for the five subtypes of the somatostatin receptor in PC-3 and DU-145 human prostate cancer cell lines was evaluated by RT-PCR. | null | null | null |
null | null | Negative | MESH:C536038 | null | null | MCAD | 19017 | null | PGC1-alpha | 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 |
2 | 0 | Biomarker | C0036341 | Schizophrenia | disease | schizophrenia | 10814 | CPLX2 | complexin II | CTD_human | 11,483,314 | In schizophrenia, synaptophysin mRNA was decreased, as was complexin II and its mRNA. | 0.287612 | In <span class="disease" id="11483314-5-3-16">schizophrenia</span>, synaptophysin mRNA was decreased, as was <span class="gene" id="11483314-5-59-71">complexin II</span> and its mRNA. | CTD_human |
null | null | Negative | MESH:D019636 | null | null | neurodegenerative illnesses | 19122 | null | prion protein | null | 28,077,650 | Prion diseases are progressive fatal neurodegenerative illnesses caused by the accumulation of transmissible abnormal prion protein (PrP). | null | null | null |
2 | 0 | Biomarker | C0002395 | Alzheimer's Disease | disease | Alzheimer's disease | 4846 | NOS3 | NOS3 | CTD_human | 10,514,107 | Association between Alzheimer's disease and the NOS3 gene. | 0.236288 | Association between <span class="disease" id="10514107-0-20-39">Alzheimer's disease</span> and the <span class="gene" id="10514107-0-48-52">NOS3</span> gene. | CTD_human |
1 | 0 | Biomarker | C0024117 | Chronic Obstructive Airway Disease | disease | COPD | 7157 | TP53 | p53 | CTD_human | 17,274,270 | These results illustrate the use of p53 immunoreactivity in the characterization of COPD, including mustard lung. | 0.210452 | These results illustrate the use of <span class="gene" id="17274270-8-36-39">p53</span> immunoreactivity in the characterization of <span class="disease" id="17274270-8-84-88">COPD</span>, including mustard lung. | CTD_human |
1 | 0 | Biomarker | C0030312 | Pancytopenia | disease | pancytopenia | 6157 | RPL27A | Rpl27a | CTD_human | 21,674,502 | We present a mutation in the ribosomal protein Rpl27a gene (sooty foot ataxia mice), isolated through a sensitized N-ethyl-N-nitrosourea (ENU) mutagenesis screen for p53 pathway defects, that shares striking phenotypic similarities with high p53 mouse models, including cerebellar ataxia, pancytopenia and epidermal hyperpigmentation. | 0.2 | We present a mutation in the ribosomal protein <span class="gene" id="21674502-2-47-53">Rpl27a</span> gene (sooty foot ataxia mice), isolated through a sensitized N-ethyl-N-nitrosourea (ENU) mutagenesis screen for p53 pathway defects, that shares striking phenotypic similarities with high p53 mouse models, including cerebellar ataxia, <span class="disease" id="21674502-2-289-301">pancytopenia</span> and epidermal hyperpigmentation. | CTD_human |
null | null | Negative | MESH:D058499 | null | null | IRD | 132320 | null | SCLT1 | null | 28,005,958 | Notably, WES unveiled four new candidates for non-syndromic IRD: SEMA6B, CEP78, CEP250, SCLT1, the two latter previously associated to syndromic disorders. | null | null | null |
1 | 0 | Therapeutic | C0878544 | Cardiomyopathies | group | cardiomyopathy | 7066 | THPO | TPO | CTD_human | 16,651,473 | We propose to further explore an integrated program, incorporating TPO with other protocols, for treatment of DOX-induced cardiotoxicity and other forms of cardiomyopathy. | 0.2 | We propose to further explore an integrated program, incorporating <span class="gene" id="16651473-10-67-70">TPO</span> with other protocols, for treatment of DOX-induced cardiotoxicity and other forms of <span class="disease" id="16651473-10-156-170">cardiomyopathy</span>. | CTD_human |
null | null | Negative | MESH:D011475 | null | null | overall survival | 6513 | null | GLUT-1 | null | 28,014,305 | GLUT-1 intensity and extent were scored in duplicate and impact on response rate (RR), progression free survival (PFS) and overall survival (OS) studied. | null | null | null |
null | null | Negative | MESH:C562590 | null | null | XPB | 2068 | null | TFIIH | null | 28,157,507 | Current models suggest that class II gene transcription requires ATP and the TFIIH XPB subunit to open a promoter. | null | null | null |
3 | 0 | Biomarker | C0023473 | Myeloid Leukemia, Chronic | disease | CML | 613 | BCR | BCR | CTD_human | 18,673,174 | However, 95% of CML patients have the ABL gene from chromosome 9 fused with the breakpoint cluster (BCR) gene from chromosome 22, resulting in a short chromosome known as the Philadelphia chromosome. | 0.75587 | However, 95% of <span class="disease" id="18673174-3-16-19">CML</span> patients have the ABL gene from chromosome 9 fused with the breakpoint cluster (<span class="gene" id="18673174-3-100-103">BCR</span>) gene from chromosome 22, resulting in a short chromosome known as the Philadelphia chromosome. | CTD_human;HPO;ORPHANET |
4 | 1 | Biomarker | C0026769 | Multiple Sclerosis | disease | multiple sclerosis | 3575 | IL7R | IL7R | CTD_human | 17,660,817 | Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. | 0.27028 | <span class="gene" id="17660817-0-0-34">Interleukin 7 receptor alpha chain</span> (<span class="gene" id="17660817-0-36-40">IL7R</span>) shows allelic and functional association with <span class="disease" id="17660817-0-88-106">multiple sclerosis</span>. | CTD_human |
3 | 2 | Biomarker | C0003873 | Rheumatoid Arthritis | disease | rheumatoid arthritis | 6366 | CCL21 | CCL21 | CTD_human | 20,453,842 | We also refined associations at two established rheumatoid arthritis risk loci (IL2RA and CCL21) and confirmed the association at AFF3. | 0.229052 | We also refined associations at two established <span class="disease" id="20453842-4-48-68">rheumatoid arthritis</span> risk loci (IL2RA and <span class="gene" id="20453842-4-90-95">CCL21</span>) and confirmed the association at AFF3. | CTD_human |
2 | 0 | Biomarker | C0338488 | Alternating hemiplegia of childhood | disease | Alternating Hemiplegia of Childhood | 478 | ATP1A3 | ATP1A3 | CTD_human | 24,631,656 | De novo mutations in ATP1A3, the gene encoding the ?3-subunit of Na(+),K(+)-ATPase, are associated with the neurodevelopmental disorder Alternating Hemiplegia of Childhood (AHC). | 0.407418 | De novo mutations in <span class="gene" id="24631656-1-21-27">ATP1A3</span>, the gene encoding the α3-subunit of Na(+),K(+)-ATPase, are associated with the neurodevelopmental disorder <span class="disease" id="24631656-1-136-171">Alternating Hemiplegia of Childhood</span> (AHC). | CTD_human;ORPHANET |
4 | 3 | Biomarker | C0038013 | Ankylosing spondylitis | disease | ankylosing spondylitis | 51752 | ERAP1 | ARTS1 | CTD_human | 17,952,073 | Comparing these data against a common control dataset derived from 1,500 randomly selected healthy British individuals, we report initial association and independent replication in a North American sample of two new loci related to ankylosing spondylitis, ARTS1 and IL23R, and confirmation of the previously reported association of AITD with TSHR and FCRL3. | 0.234483 | Comparing these data against a common control dataset derived from 1,500 randomly selected healthy British individuals, we report initial association and independent replication in a North American sample of two new loci related to <span class="disease" id="17952073-2-232-254">ankylosing spondylitis</span>, <span class="gene" id="17952073-2-256-261">ARTS1</span> and IL23R, and confirmation of the previously reported association of AITD with TSHR and FCRL3. | CTD_human |
null | null | Negative | MESH:C563178 | null | null | aortic valve implantation | 7450 | null | von Willebrand factor | null | 28,088,607 | BACKGROUND: In this study, we sought to analyze the incidence and relevance of von Willebrand factor (VWF) abnormalities in patients undergoing transcatheter aortic valve implantation (TAVI), especially on perioperative bleeding. | null | null | null |
1 | 0 | Biomarker | C0033578 | Prostatic Neoplasms | group | prostate tumor | 2925 | GRPR | gastrin-releasing peptide receptor | CTD_human | 17,204,703 | Androgen-dependent expression of the gastrin-releasing peptide receptor in human prostate tumor xenografts. | 0.203557 | Androgen-dependent expression of the <span class="gene" id="17204703-0-37-71">gastrin-releasing peptide receptor</span> in human <span class="disease" id="17204703-0-81-95">prostate tumor</span> xenografts. | CTD_human |
1 | 0 | Therapeutic | C0027051 | Myocardial Infarction | disease | myocardial infarction | 8525 | DGKZ | diacylglycerol kinase zeta | CTD_human | 17,071,729 | Cardiac-specific overexpression of diacylglycerol kinase zeta attenuates left ventricular remodeling and improves survival after myocardial infarction. | 0.2 | Cardiac-specific overexpression of <span class="gene" id="17071729-0-35-61">diacylglycerol kinase zeta</span> attenuates left ventricular remodeling and improves survival after <span class="disease" id="17071729-0-129-150">myocardial infarction</span>. | CTD_human |
2 | 0 | Biomarker | C0004096 | Asthma | disease | asthma | 3383 | ICAM1 | intercellular adhesion molecule-1 | CTD_human | 17,014,439 | Role of intercellular adhesion molecule-1 in a murine model of toluene diisocyanate-induced asthma. | 0.218218 | Role of <span class="gene" id="17014439-0-8-41">intercellular adhesion molecule-1</span> in a murine model of toluene diisocyanate-induced <span class="disease" id="17014439-0-92-98">asthma</span>. | CTD_human |
null | null | Negative | MESH:C537751 | null | null | oncogene induced senescence | 57670 | null | KIAA1549 | null | 28,002,790 | It is most frequently caused by KIAA1549:BRAF fusions, and leads to oncogene induced senescence (OIS). | null | null | null |
1 | 0 | Biomarker | C0031117 | Peripheral Neuropathy | group | PN | 100126572 | GJE1 | GJE1 | CTD_human | 21,228,734 | Genes associated with immune function (CTLA4, CTSS), reflexive coupling within Schwann cells (GJE1), drug binding (PSMB1), and neuron function (TCF4, DYNC1I1) associated with bortezomib-induced PN in this study. | 0.200275 | Genes associated with immune function (CTLA4, CTSS), reflexive coupling within Schwann cells (<span class="gene" id="21228734-10-94-98">GJE1</span>), drug binding (PSMB1), and neuron function (TCF4, DYNC1I1) associated with bortezomib-induced <span class="disease" id="21228734-10-194-196">PN</span> in this study. | CTD_human |