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1 | 0 | Biomarker | C0017638 | Glioma | disease | glioma | 1182 | CLCN3 | ClC-3 | CTD_human | 12,843,258 | We suggest that ClC-2 and ClC-3 channels are specifically upregulated in glioma membranes and endow glioma cells with an enhanced ability to transport Cl-. | 0.203557 | We suggest that ClC-2 and <span class="gene" id="12843258-11-26-31">ClC-3</span> channels are specifically upregulated in <span class="disease" id="12843258-11-73-79">glioma</span> membranes and endow <span class="disease" id="12843258-11-100-106">glioma</span> cells with an enhanced ability to transport Cl-. | CTD_human |
null | null | Negative | MESH:D020241 | null | null | Western diet | 183 | null | angiotensin II | null | 28,003,648 | We created a porcine model of severe hypertension and hyperlipidemia by using a combination of deoxycorticosterone acetate (DOCA, 100 mg kg<sup>-1</sup>), Western diet (WD) and angiotensin II infusion. | null | null | null |
4 | 0 | Therapeutic | C0878544 | Cardiomyopathies | group | cardiomyopathy | 2056 | EPO | Erythropoietin | CTD_human | 16,731,534 | Erythropoietin improves myocardial performance in doxorubicin-induced cardiomyopathy. | 0.2 | <span class="gene" id="16731534-0-0-14">Erythropoietin</span> improves myocardial performance in doxorubicin-induced <span class="disease" id="16731534-0-70-84">cardiomyopathy</span>. | CTD_human |
1 | 0 | Biomarker | C0085655 | Polymyositis | disease | polymyositis | 7124 | TNF | tumor necrosis factor-alpha | CTD_human | 7,979,221 | To evaluate the possible role of cytokines in human immunodeficiency virus (HIV)-associated muscular disorders, we performed immunocytochemistry for interleukin-1 alpha, -1 beta, and -6 and tumor necrosis factor-alpha on frozen muscle biopsy specimens from HIV-infected patients with various myopathies (HIV polymyositis in 5, HIV-wasting syndrome in 5, zidovudine myopathy in 10) and from seronegative individuals (normal muscle in 2, mitochondrial cytopathies in 10). | 0.205755 | To evaluate the possible role of cytokines in human immunodeficiency virus (HIV)-associated muscular disorders, we performed immunocytochemistry for interleukin-1 alpha, -1 beta, and -6 and <span class="gene" id="7979221-1-190-217">tumor necrosis factor-alpha</span> on frozen muscle biopsy specimens from HIV-infected patients with various myopathies (HIV <span class="disease" id="7979221-1-308-320">polymyositis</span> in 5, HIV-wasting syndrome in 5, zidovudine myopathy in 10) and from seronegative individuals (normal muscle in 2, mitochondrial cytopathies in 10). | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 16176 | null | interleukin-1b | null | 28,024,851 | In addition, inflammatory cytokines including interleukin-1b, Mcp-1, and tumor necrosis factor-a were downregulated in the aneurysm tissues of elastase-perfused y T KO mice. | null | null | null |
null | null | Negative | MESH:D001168 | null | null | inflammatory arthritis | 110072 | null | PAD4 | null | 28,188,029 | PAD4 exacerbates inflammatory arthritis and is critical for neutrophil extracellular traps (NETs). | null | null | null |
64 | 0 | Biomarker | C0002871 | Anemia | disease | anaemia | 2056 | EPO | erythropoietin | CTD_human | 9,616,293 | Management of chemotherapy-related anaemia with low-dose recombinant human erythropoietin in patients with small cell lung cancer. | 0.24092 | Management of chemotherapy-related <span class="disease" id="9616293-0-35-42">anaemia</span> with low-dose recombinant human <span class="gene" id="9616293-0-75-89">erythropoietin</span> in patients with small cell lung cancer. | CTD_human |
4 | 0 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | NSCLC | 6098 | ROS1 | ROS1 | CTD_human | 22,585,869 | ROS1 gene rearrangement is identified in NSCLC. | 0.217583 | <span class="gene" id="22585869-0-0-4">ROS1</span> gene rearrangement is identified in <span class="disease" id="22585869-0-41-46">NSCLC</span>. | CTD_human |
null | null | Negative | MESH:D050197 | null | null | atherosclerosis | 11816 | null | ApoE | null | 28,067,100 | In the present work, we evaluated platelet activation at rest and following a single bout of strenuous treadmill exercise in female ApoE/LDLR(-)(/-) mice with early (3-month-old) and advanced (7-month-old) atherosclerosis compared to female age-matched WT mice. | null | null | null |
1 | 0 | Biomarker | C0036341 | Schizophrenia | disease | schizophrenia | 4729 | NDUFV2 | NDUFV2 | CTD_human | 19,135,101 | Expression of mitochondrial complex I subunit gene NDUFV2 in the lymphoblastoid cells derived from patients with bipolar disorder and schizophrenia. | 0.209521 | Expression of mitochondrial complex I subunit gene <span class="gene" id="19135101-0-51-57">NDUFV2</span> in the lymphoblastoid cells derived from patients with bipolar disorder and <span class="disease" id="19135101-0-134-147">schizophrenia</span>. | CTD_human |
1 | 0 | Biomarker | C0027627 | Neoplasm Metastasis | phenotype | metastasis | 3569 | IL6 | IL-6 | CTD_human | 21,937,440 | The cytokines oncostatin M (OSM) and IL-6 promote breast cancer cell migration and metastasis. | 0.225781 | The cytokines oncostatin M (OSM) and <span class="gene" id="21937440-1-37-41">IL-6</span> promote breast cancer cell migration and <span class="disease" id="21937440-1-83-93">metastasis</span>. | CTD_human |
null | null | Negative | MESH:D020345 | null | null | NEC | 397422 | null | CCL2 | 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 |
null | null | Negative | MESH:D005910 | null | null | glioma | 100500847 | null | miR-361-5p | null | 28,184,914 | However, the function of miR-361-5p in glioma remains unknown. | null | null | null |
2 | 0 | Biomarker | C0014544 | Epilepsy | disease | epilepsy | 6326 | SCN2A | Scn2a | CTD_human | 16,464,983 | Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2. | 0.423178 | Severe <span class="disease" id="16464983-0-7-15">epilepsy</span> resulting from genetic interaction between <span class="gene" id="16464983-0-59-64">Scn2a</span> and Kcnq2. | CTD_human;HPO |
1 | 5 | Biomarker | C1862170 | Brachydactyly with hypertension | disease | hypertension with brachydactyly | 5139 | PDE3A | PDE3A | CTD_human | 25,961,942 | PDE3A mutations cause autosomal dominant hypertension with brachydactyly. | 0.600549 | <span class="gene" id="25961942-0-0-5">PDE3A</span> mutations cause autosomal dominant <span class="disease" id="25961942-0-41-72">hypertension with brachydactyly</span>. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D010661 | null | null | deficient hyperphenylalaninemia-1 | 14528 | null | GTP cyclohydrolase 1 | null | 28,079,055 | Although there are no known BH4 exogenous sources, the tissue content of this biopterin increases with age in GTP cyclohydrolase 1-deficient hyperphenylalaninemia-1 (hph-1) mice. | null | null | null |
null | null | Negative | MESH:D007319 | null | null | minichromosome maintenance complex | 4171;4172;4173;4174;4175;4176 | null | Mcm2-7 | null | 28,191,894 | The minichromosome maintenance complex (MCM) hexameric complex (Mcm2-7) forms the core of the eukaryotic replicative helicase. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 574058 | null | PD-L1 | null | 28,132,868 | In this study we investigated lymphocyte activing 3 (LAG-3) protein expression; its correlation with PD-1, PD-L1, and tumor-in ltrating lymphocytes (TILs); and its association with survival in NSCLC. | null | null | null |
4 | 0 | Biomarker | C0013080 | Down Syndrome | disease | trisomy 21 | 4524 | MTHFR | Methylenetetrahydrofolate reductase | CTD_human | 16,353,284 | Methylenetetrahydrofolate reductase gene polymorphisms and their association with trisomy 21. | 0.320241 | <span class="gene" id="16353284-0-0-35">Methylenetetrahydrofolate reductase</span> gene polymorphisms and their association with <span class="disease" id="16353284-0-82-92">trisomy 21</span>. | CTD_human |
1 | 0 | Biomarker | C0376634 | Craniofacial Abnormalities | group | craniofacial abnormalities | 9569 | GTF2IRD1 | Gtf2ird1 | CTD_human | 20,007,321 | Mice with mutations of the Gtf2ird1 allele show evidence of craniofacial abnormalities and behavioral changes. | 0.200275 | Mice with mutations of the <span class="gene" id="20007321-5-27-35">Gtf2ird1</span> allele show evidence of <span class="disease" id="20007321-5-60-86">craniofacial abnormalities</span> and behavioral changes. | CTD_human |
null | null | Negative | MESH:D018207 | null | null | Angiomyolipoma | 5546 | null | pRCC | null | 28,136,854 | RESULTS: Histology revealed ccRCC in 6 patients, pRCC in 4, OC in 2, Angiomyolipoma in 1, and unclassified type RCC in 2. | null | null | null |
1 | 0 | Biomarker | C0022665 | Kidney Neoplasm | disease | kidney tumors | 6596 | HLTF | HLTF | CTD_human | 16,762,066 | HLTF expression was conserved in the HKT-1097 cell line established from kidney tumors, but again only 10% of positive cells were found in xenografts produced by HKT-1097 cells in nude mice. | 0.200549 | <span class="gene" id="16762066-8-0-4">HLTF</span> expression was conserved in the HKT-1097 cell line established from <span class="disease" id="16762066-8-73-86">kidney tumors</span>, but again only 10% of positive cells were found in xenografts produced by HKT-1097 cells in nude mice. | CTD_human |
null | null | Negative | MESH:C535600 | null | null | 2-hydroxypropyl-b-cyclodextrin | 3552 | null | IL-1a | 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:D006973 | null | null | HHP | 835;841 | null | caspase-2 or -8 | null | 28,197,379 | Non-phosphorylatable eIF2a, depletion of PERK, caspase-2 or -8 compromised calreticulin exposure by cancer cells succumbing to HHP but could not inhibit death. | null | null | null |
1 | 0 | Biomarker | C0004096 | Asthma | disease | asthma | 3880 | KRT19 | cytokeratin 19 | CTD_human | 15,478,392 | Increased levels of IgG to cytokeratin 19 in sera of patients with toluene diisocyanate-induced asthma. | 0.200275 | Increased levels of IgG to <span class="gene" id="15478392-0-27-41">cytokeratin 19</span> in sera of patients with toluene diisocyanate-induced <span class="disease" id="15478392-0-96-102">asthma</span>. | CTD_human |
69 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 183 | AGT | angiotensin II | CTD_human | 7,323,490 | Most of these effects of angiotensin II were opposite to the effects of hypertension caused by phenylephrine and aortic balloon inflation. | 0.52 | Most of these effects of <span class="gene" id="7323490-5-25-39">angiotensin II</span> were opposite to the effects of <span class="disease" id="7323490-5-72-84">hypertension</span> caused by phenylephrine and aortic balloon inflation. | CTD_human |
1 | 0 | Biomarker | C0009319 | Colitis | disease | colitis | 4353 | MPO | MPO | CTD_human | 23,810,507 | Both nicotine and huperzine A reduced the extent of colonic lesions, increased colonic MDA level, high MPO activity and NF-?B expression in the colitis group. | 0.203022 | Both nicotine and huperzine A reduced the extent of colonic lesions, increased colonic MDA level, high <span class="gene" id="23810507-11-103-106">MPO</span> activity and NF-κB expression in the <span class="disease" id="23810507-11-144-151">colitis</span> group. | CTD_human |
null | null | Negative | MESH:C536962 | null | null | TS | 4292 | null | MLH1 | null | 28,016,543 | The pathological examination of pre-treatment biopsy and operative specimen considered the immunohistochemical determination of Ki67, p53, bcl2, TS, EGFR, MLH1 and MSH2. | null | null | null |
1 | 0 | Biomarker | C0003469 | Anxiety Disorders | group | anxiety | 5066 | PAM | PAM | CTD_human | 19,815,072 | Using mice heterozygous for peptidylglycine alpha-amidating monooxygenase (PAM), a cuproenzyme essential for the synthesis of many neuropeptides, we identified alterations in anxiety-like behavior, thermoregulation and seizure sensitivity. | 0.2 | Using mice heterozygous for <span class="gene" id="19815072-4-28-73">peptidylglycine alpha-amidating monooxygenase</span> (<span class="gene" id="19815072-4-75-78">PAM</span>), a cuproenzyme essential for the synthesis of many neuropeptides, we identified alterations in <span class="disease" id="19815072-4-175-182">anxiety</span>-like behavior, thermoregulation and seizure sensitivity. | CTD_human |
null | null | Negative | OMIM:217000 | null | null | HPSE-2 | 10855 | null | HPSE-1 | null | 28,023,842 | It was also demonstrated that trastuzumab decreases heparanases isoforms (HPSE-1, HPSE-2), HER2 and the proteoglycan syndecan-1 (Syn-1) mRNA expression in MCF7 cell line, while in MCF7 HPSE-1 transfected cells trastuzumab increases mRNA expression of these molecules. | null | null | null |
4 | 0 | Therapeutic | C0038220 | Status Epilepticus | disease | status epilepticus | 847 | CAT | catalase | CTD_human | 18,096,215 | Our results can suggest that neuroprotective effects of vitamin C in adult rats can be the result of reduced lipid peroxidation levels and increase of catalase activity after seizures and status epilepticus induced by pilocarpine. | 0.2 | Our results can suggest that neuroprotective effects of vitamin C in adult rats can be the result of reduced lipid peroxidation levels and increase of <span class="gene" id="18096215-9-151-159">catalase</span> activity after seizures and <span class="disease" id="18096215-9-188-206">status epilepticus</span> induced by pilocarpine. | CTD_human |
64 | 0 | Therapeutic | C0002871 | Anemia | disease | anemia | 2056 | EPO | erythropoietin | CTD_human | 18,611,800 | Recombinant human erythropoietin for treatment of anemia in persons with AIDS not receiving zidovudine. | 0.24092 | Recombinant human <span class="gene" id="18611800-0-18-32">erythropoietin</span> for treatment of <span class="disease" id="18611800-0-50-56">anemia</span> in persons with AIDS not receiving zidovudine. | CTD_human |
1 | 0 | Biomarker | C0027627 | Neoplasm Metastasis | phenotype | metastasis | 6696 | SPP1 | OPN | CTD_human | 22,407,340 | Bone sialoprotein (BSP) and osteopontin (OPN) are important factors in the metastasis of breast cancer, which were examined as targets for antineoplastic therapy by siRNA. | 0.251042 | Bone sialoprotein (BSP) and <span class="gene" id="22407340-1-28-39">osteopontin</span> (<span class="gene" id="22407340-1-41-44">OPN</span>) are important factors in the <span class="disease" id="22407340-1-75-85">metastasis</span> of breast cancer, which were examined as targets for antineoplastic therapy by siRNA. | CTD_human |
null | null | Negative | OMIM:612348 | null | null | activity | 462 | null | antithrombin | null | 28,012,194 | BACKGROUND AND AIM: Liver dysfunction with decreased antithrombin activity (AT) and/or thrombocytopenia is life-threatening in pregnant women. | null | null | null |
null | null | Negative | MESH:D003920 | null | null | diabetes | 24887 | null | Bax | null | 28,099,448 | That effect was accompanied by decreased levels of Bax, and cleaved caspase 3, which were up-regulated in diabetes. | null | null | null |
4 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | hepatocellular carcinoma | 6648 | SOD2 | superoxide dismutase 2 | CTD_human | 19,731,237 | Myeloperoxidase and superoxide dismutase 2 polymorphisms comodulate the risk of hepatocellular carcinoma and death in alcoholic cirrhosis. | 0.208869 | Myeloperoxidase and <span class="gene" id="19731237-0-20-42">superoxide dismutase 2</span> polymorphisms comodulate the risk of <span class="disease" id="19731237-0-80-104">hepatocellular carcinoma</span> and death in alcoholic cirrhosis. | CTD_human |
1 | 0 | Biomarker | C0009241 | Cognition Disorders | group | cognitive deficits | 7592 | ZNF41 | ZNF41 | CTD_human | 14,628,291 | Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. | 0.200275 | Mutations in the <span class="gene" id="14628291-0-17-22">ZNF41</span> gene are associated with <span class="disease" id="14628291-0-48-66">cognitive deficits</span>: identification of a new candidate for X-linked mental retardation. | CTD_human |
null | null | Negative | MESH:D001930 | null | null | traumatic brain injury | 29733 | null | S1PR1 | null | 28,018,679 | However, the potential association between S1PR1 and neurogenesis in hippocampus following traumatic brain injury (TBI) remains unknown. | null | null | null |
1 | 0 | Biomarker | C0025202 | melanoma | disease | melanoma | 6494 | SIPA1 | SIPA1 | CTD_human | 22,535,842 | Accordingly, siRNA-mediated down-regulation of SIPA1 exerted significant effects on clonogenicity, adherence and migration in aggressive melanoma models. | 0.200275 | Accordingly, siRNA-mediated down-regulation of <span class="gene" id="22535842-10-47-52">SIPA1</span> exerted significant effects on clonogenicity, adherence and migration in aggressive <span class="disease" id="22535842-10-137-145">melanoma</span> models. | CTD_human |
1 | 0 | Biomarker | C2931822 | Nasopharyngeal carcinoma | disease | nasopharyngeal carcinoma | 2067 | ERCC1 | ERCC1 | CTD_human | 20,605,357 | Can the analysis of ERCC1 expression contribute to individualized therapy in nasopharyngeal carcinoma? | 0.201923 | Can the analysis of <span class="gene" id="20605357-0-20-25">ERCC1</span> expression contribute to individualized therapy in <span class="disease" id="20605357-0-77-101">nasopharyngeal carcinoma</span>? | CTD_human |
1 | 0 | Biomarker | C0027627 | Neoplasm Metastasis | phenotype | metastasis | 7099 | TLR4 | TLR4 | CTD_human | 22,180,778 | Accordingly, simultaneous examination of the expression of TLR4, MD-2 and CXCR7 in cancer tissues of colorectal carcinoma may provide valuable prognostic diagnosis of carcinoma growth and metastasis. | 0.203571 | Accordingly, simultaneous examination of the expression of <span class="gene" id="22180778-9-59-63">TLR4</span>, MD-2 and CXCR7 in cancer tissues of colorectal carcinoma may provide valuable prognostic diagnosis of carcinoma growth and <span class="disease" id="22180778-9-188-198">metastasis</span>. | CTD_human |
3 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 4204 | MECP2 | MECP2 | CTD_human | 15,211,631 | MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism. | 0.437816 | <span class="gene" id="15211631-0-0-5">MECP2</span> structural and 3'-UTR variants in schizophrenia, <span class="disease" id="15211631-0-55-61">autism</span> and other psychiatric diseases: a possible association with <span class="disease" id="15211631-0-122-128">autism</span>. | CTD_human;HPO |
null | null | Negative | MESH:D006689 | null | null | HL | 26284 | null | era | null | 28,134,921 | Data on alloHCT outcomes in the era of new HL therapies are needed. | null | null | null |
null | null | Negative | MESH:C538388 | null | null | HCG | 174 | null | AFP | null | 28,023,333 | Of these 7 patients 3 had normalization of HCG and/or AFP. | null | null | null |
6 | 2 | Biomarker | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | T2DM | 169026 | SLC30A8 | ZnT-8 | CTD_human | 21,461,562 | In this study, we aimed to explore the expression of ZnT-8 in the development of T2DM. | 0.301703 | In this study, we aimed to explore the expression of <span class="gene" id="21461562-3-53-58">ZnT-8</span> in the development of <span class="disease" id="21461562-3-81-85">T2DM</span>. | CTD_human |
null | null | Negative | MESH:D007249 | null | null | intestinal inflammation | 16171 | null | IL-17 | null | 28,025,954 | Oral administration of the microalgal biomass reduced TNBS-induced intestinal inflammation, evidenced by an inhibition of body weight loss, an improvement in colon morphology and a decrease in pro-inflammatory cytokines TNF-a, IL-1b, IL-6 and IL-17. | null | null | null |
3 | 0 | Biomarker | C0004153 | Atherosclerosis | disease | atherosclerosis | 4018 | LPA | lipoprotein Lp(a | CTD_human | 1,465,128 | Elevated plasma levels of the lipoprotein Lp(a) are associated with increased risk for atherosclerosis and its manifestations, myocardial infarction, stroke and restenosis (for reviews, see refs 1-3). | 0.228492 | Elevated plasma levels of the <span class="gene" id="1465128-1-30-46">lipoprotein Lp(a</span>) are associated with increased risk for <span class="disease" id="1465128-1-87-102">atherosclerosis</span> and its manifestations, myocardial infarction, stroke and restenosis (for reviews, see refs 1-3). | CTD_human |
1 | 0 | Biomarker | C0019284 | Diaphragmatic Hernia | phenotype | diaphragmatic hernia | 64220 | STRA6 | STRA6 | CTD_human | 17,273,977 | Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. | 0.202733 | Mutations in <span class="gene" id="17273977-0-13-18">STRA6</span> cause a broad spectrum of malformations including anophthalmia, congenital heart defects, <span class="disease" id="17273977-0-109-129">diaphragmatic hernia</span>, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. | CTD_human |
2 | 0 | Therapeutic | C0002395 | Alzheimer's Disease | disease | Alzheimer disease | 1471 | CST3 | CST3 | CTD_human | 17,192,785 | In addition to identifying the epsilon4 allele of APOE and related effects, we pinpointed over a dozen potential Alzheimer disease susceptibility genes (ACE, CHRNB2, CST3, ESR1, GAPDHS, IDE, MTHFR, NCSTN, PRNP, PSEN1, TF, TFAM and TNF) with statistically significant allelic summary odds ratios (ranging from 1.11-1.38 for risk alleles and 0.92-0.67 for protective alleles). | 0.266178 | In addition to identifying the epsilon4 allele of APOE and related effects, we pinpointed over a dozen potential <span class="disease" id="17192785-5-113-130">Alzheimer disease</span> susceptibility genes (ACE, CHRNB2, <span class="gene" id="17192785-5-166-170">CST3</span>, ESR1, GAPDHS, IDE, MTHFR, NCSTN, PRNP, PSEN1, TF, TFAM and TNF) with statistically significant allelic summary odds ratios (ranging from 1.11-1.38 for risk alleles and 0.92-0.67 for protective alleles). | CTD_human |
null | null | Negative | MESH:D064420 | null | null | Cytotoxicity | 100508689 | null | mucin | null | 28,115,645 | Cytotoxicity, tissue barrier integrity, oxidative stress, mucin secretion, and matrix metalloproteinase (MMP) excretion were measured. | null | null | null |
3 | 2 | Biomarker | C0003873 | Rheumatoid Arthritis | disease | rheumatoid arthritis | 958 | CD40 | CD40 | CTD_human | 18,794,853 | Common variants at CD40 and other loci confer risk of rheumatoid arthritis. | 0.235855 | Common variants at <span class="gene" id="18794853-0-19-23">CD40</span> and other loci confer risk of <span class="disease" id="18794853-0-54-74">rheumatoid arthritis</span>. | CTD_human |
null | null | Negative | MESH:D020391 | null | null | facioscapulohumeral dystrophy | 2489 | null | FSHD | null | 28,000,226 | RESULTS: Complex repetitive discharges (CRDs) occurred more frequently than fibrillation potentials (fibs) and positive sharp waves (PSWs) in centronuclear myopathy (CNM) and limb-girdle muscular dystrophy type 2A (LGMD-2A), whereas fibs/PSWs were observed more often in desminopathy and facioscapulohumeral dystrophy (FSHD). | null | null | null |
null | null | Negative | MESH:D046152 | null | null | gastrointestinal stromal tumors | 55107 | null | DOG1 | null | 28,044,310 | OBJECTIVE: We aimed to review our archives in order to evaluate both the diagnostic and prognostic significance of DOG1 on gastrointestinal stromal tumors (GISTs), and add further insight about those issues to the current literature including some conflicting results. | null | null | null |
2 | 0 | Biomarker | C0019569 | Hirschsprung Disease | disease | Hirschsprung disease | 2668 | GDNF | GDNF | CTD_human | 8,896,568 | Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. | 0.620929 | Germline mutations in <span class="gene" id="8896568-0-22-65">glial cell line-derived neurotrophic factor</span> (<span class="gene" id="8896568-0-67-71">GDNF</span>) and RET in a <span class="disease" id="8896568-0-86-106">Hirschsprung disease</span> patient. | CTD_human;HPO;ORPHANET |
null | null | Negative | MESH:D014842 | null | null | von Willebrand disease | 7450 | null | VWD | null | 28,196,380 | Obtaining a personal history of bleeding is a critical component to the diagnosis of von Willebrand disease (VWD). | null | null | null |
1 | 0 | Biomarker | C0030305 | Pancreatitis | disease | pancreatitis | 3117 | HLA-DQA1 | HLA-DQA1 | CTD_human | 25,217,962 | HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants. | 0.200275 | <span class="gene" id="25217962-0-0-8">HLA-DQA1</span>-HLA-DRB1 variants confer susceptibility to <span class="disease" id="25217962-0-52-64">pancreatitis</span> induced by thiopurine immunosuppressants. | CTD_human |
4 | 0 | Biomarker | C0017638 | Glioma | disease | gliomas | 3417 | IDH1 | IDH1 | CTD_human | 26,618,343 | To understand the molecular mechanisms underlying the malignant progression of low-grade gliomas with mutations in IDH1 (encoding isocitrate dehydrogenase 1), we studied paired tumor samples from 41 patients, comparing higher-grade, progressed samples to their lower-grade counterparts. | 0.302315 | To understand the molecular mechanisms underlying the malignant progression of low-grade <span class="disease" id="26618343-2-89-96">gliomas</span> with mutations in <span class="gene" id="26618343-2-115-119">IDH1</span> (encoding isocitrate dehydrogenase 1), we studied paired tumor samples from 41 patients, comparing higher-grade, progressed samples to their lower-grade counterparts. | CTD_human |
2 | 13 | Biomarker | C0265338 | Coffin-Siris syndrome | disease | Coffin-Siris syndrome | 57492 | ARID1B | ARID1B | CTD_human | 22,426,309 | Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. | 0.401648 | Mutations in SWI/SNF chromatin remodeling complex gene <span class="gene" id="22426309-0-55-61">ARID1B</span> cause <span class="disease" id="22426309-0-68-89">Coffin-Siris syndrome</span>. | CTD_human;ORPHANET |
1 | 0 | Biomarker | C0020429 | Hyperalgesia | phenotype | hyperalgesia | 5744 | PTHLH | parathyroid hormone-related protein | CTD_human | 16,769,263 | Repeated subcutaneous injections of parathyroid hormone-related protein into the hind-paw also induced hyperalgesia with increased osteoclastic bone resorption. | 0.2 | Repeated subcutaneous injections of <span class="gene" id="16769263-7-36-71">parathyroid hormone-related protein</span> into the hind-paw also induced <span class="disease" id="16769263-7-103-115">hyperalgesia</span> with increased osteoclastic bone resorption. | CTD_human |
null | null | Negative | MESH:D056486 | null | null | liver injury | 19211 | null | PTEN | null | 28,095,306 | In conclusion, PTEN mediates macrophages activation by PI3K/Akt/STAT6 signaling pathway, which provides novel compelling evidences on the potential of PTEN in liver injury and opens new cellular target for the pharmacological therapy of liver fibrosis. | null | null | null |
1 | 0 | Biomarker | C0032460 | Polycystic Ovary Syndrome | disease | PCOS | 6770 | STAR | StAR | CTD_human | 21,262,361 | The mRNA expression corresponding to steroidogenic acute regulatory protein (StAR), and 20alpha-hydroxysteroid dehydrogenase (20?-HSD) was increased, while that corresponding to cytochrome P450 aromatase (P450arom) was decreased in PCOS follicles as compared to controls. | 0.201374 | The mRNA expression corresponding to <span class="gene" id="21262361-3-37-75">steroidogenic acute regulatory protein</span> (<span class="gene" id="21262361-3-77-81">StAR</span>), and 20alpha-hydroxysteroid dehydrogenase (20α-HSD) was increased, while that corresponding to cytochrome P450 aromatase (P450arom) was decreased in <span class="disease" id="21262361-3-232-236">PCOS</span> follicles as compared to controls. | CTD_human |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 4763 | NF1 | neurofibromatosis-1 | CTD_human | 15,389,774 | Association between the neurofibromatosis-1 (NF1) locus and autism in the Japanese population. | 0.204055 | Association between the <span class="gene" id="15389774-0-24-43">neurofibromatosis-1</span> (NF1) locus and <span class="disease" id="15389774-0-60-66">autism</span> in the Japanese population. | CTD_human |
11 | 4 | Biomarker | C0023467 | Leukemia, Myelocytic, Acute | disease | AML | 2322 | FLT3 | FLT3 | CTD_human | 22,409,268 | The targeted therapy of FLT3-ITD-positive AML with ponatinib might be associated with a lower frequency of secondary resistance caused by acquired FLT3-TKD mutations. | 0.52 | The targeted therapy of <span class="gene" id="22409268-8-24-28">FLT3</span>-ITD-positive <span class="disease" id="22409268-8-42-45">AML</span> with ponatinib might be associated with a lower frequency of secondary resistance caused by acquired <span class="gene" id="22409268-8-147-151">FLT3</span>-TKD mutations. | CTD_human |
null | null | Negative | MESH:D010146 | null | null | pain | 16153 | null | IL-10 | null | 28,054,242 | We observed that SFN dose-dependently attenuated CCI-induced pain behavioral hypersensitivity, accompanied by reduction in pro-inflammatory cytokines (TNF-a, IL-1b, IL-6) and upregulation of an anti-inflammatory cytokine (IL-10). | null | null | null |
null | null | Negative | MESH:D049290 | null | null | AB | 733688 | null | TXNIP | null | 28,030,356 | The objective of the present study was to analyse the immune response to A. suum mounted by pigs with genotype AA (n = 24) and AB (n = 23) at the TXNIP locus. | null | null | null |
null | null | Negative | MESH:C563010 | null | null | neutrophilia | 5728 | null | PTEN | null | 28,020,562 | CONCLUSIONS: Our experience suggests the utility of de HIF1a, CAIX, PTEN, p21, thrombocytosis and neutrophilia as prognostic factors in patients with advanced RCC. | null | null | null |
null | null | Negative | OMIM:602081 | null | null | CAS | 835984 | null | PLC4 | null | 28,007,965 | When CAS was silenced in the qua1-4 mutant, the large [Ca2+]cyt increase was blocked, and the higher expression of PLC3 and PLC4 was suppressed. | null | null | null |
null | null | Negative | MESH:D050197 | null | null | atherosclerosis | 20778 | null | SR-B1 | null | 28,134,663 | PURPOSE OF REVIEW: To outline the roles of SR-B1 and PDZK1 in hepatic selective HDL cholesterol uptake and reverse cholesterol transport and the consequences for atherosclerosis development. | null | null | null |
4 | 8 | Biomarker | C1849334 | Robinow syndrome, autosomal recessive | disease | Autosomal recessive Robinow syndrome | 4920 | ROR2 | ROR2 | CTD_human | 15,952,209 | Autosomal recessive Robinow syndrome is caused by mutations in ROR2 and is characterized by short stature, mesomelic limb shortening, brachydactyly, vertebral abnormalities, and a characteristic "fetal face" dysmorphology. | 0.682473 | <span class="disease" id="15952209-1-0-36">Autosomal recessive Robinow syndrome</span> is caused by mutations in <span class="gene" id="15952209-1-63-67">ROR2</span> and is characterized by short stature, mesomelic limb shortening, brachydactyly, vertebral abnormalities, and a characteristic "fetal face" dysmorphology. | CTD_human;ORPHANET;UNIPROT |
4 | 91 | Biomarker | C0041341 | Tuberous Sclerosis | disease | TSC | 7249 | TSC2 | TSC2 | CTD_human | 21,345,208 | Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder caused by mutations in one of two genes, TSC1 or TSC2, which encode the proteins hamartin and tuberin, respectively 123. | 0.53836 | <span class="disease" id="21345208-1-0-26">Tuberous sclerosis complex</span> (<span class="disease" id="21345208-1-28-31">TSC</span>) is an autosomal dominant neurogenetic disorder caused by mutations in one of two genes, TSC1 or <span class="gene" id="21345208-1-129-133">TSC2</span>, which encode the proteins hamartin and tuberin, respectively 123. | CTD_human;ORPHANET |
null | null | Negative | MESH:D045888 | null | null | TG | 7124 | null | tumor necrosis factor-a | null | 28,155,010 | Finally, pretreatment with p38 inhibitor, SB203580, attenuated the pIONL-induced mechanical allodynia and decreased the mRNA expression of pro-inflammatory cytokines including tumor necrosis factor-a (TNF-a) and interleukin-1b (IL-1b) in the TG. | null | null | null |
7 | 0 | Therapeutic | C0011581 | Depressive disorder | disease | depression | 4852 | NPY | neuropeptide Y | CTD_human | 9,729,278 | Alterations in neuropeptide Y and Y1 receptor mRNA expression in brains from an animal model of depression: region specific adaptation after fluoxetine treatment. | 0.483571 | Alterations in <span class="gene" id="9729278-0-15-29">neuropeptide Y</span> and Y1 receptor mRNA expression in brains from an animal model of <span class="disease" id="9729278-0-96-106">depression</span>: region specific adaptation after fluoxetine treatment. | CTD_human;PSYGENET |
null | null | Negative | MESH:D009369 | null | null | tumor | 20846 | null | STAT1 | null | 28,101,184 | Western blot findings demonstrated that luteolin significantly inhibited interferon-y-induced increases in cyclooxygenase 2, phosphorylated STAT1 and phosphorylated STAT3 expression levels and the secretion of the proinflammatory cytokine tumor necrosis factor-a in supernatants. | null | null | null |
1 | 0 | Biomarker | C0027627 | Neoplasm Metastasis | phenotype | metastasis | 8648 | NCOA1 | Steroid receptor coactivator 1 | CTD_human | 21,080,969 | Steroid receptor coactivator 1 deficiency increases MMTV-neu mediated tumor latency and differentiation specific gene expression, decreases metastasis, and inhibits response to PPAR ligands. | 0.201374 | <span class="gene" id="21080969-0-0-30">Steroid receptor coactivator 1</span> deficiency increases MMTV-neu mediated tumor latency and differentiation specific gene expression, decreases <span class="disease" id="21080969-0-140-150">metastasis</span>, and inhibits response to PPAR ligands. | CTD_human |
1 | 0 | Biomarker | C0030305 | Pancreatitis | disease | pancreatitis | 4023 | LPL | lipoprotein lipase | CTD_human | 18,936,103 | Enhanced susceptibility to pancreatitis in severe hypertriglyceridaemic lipoprotein lipase-deficient mice and agonist-like function of pancreatic lipase in pancreatic cells. | 0.410634 | Enhanced susceptibility to <span class="disease" id="18936103-0-27-39">pancreatitis</span> in severe hypertriglyceridaemic <span class="gene" id="18936103-0-72-90">lipoprotein lipase</span>-deficient mice and agonist-like function of pancreatic lipase in pancreatic cells. | CTD_human;HPO |
null | null | Negative | MESH:C565469 | null | null | deficiency impairs anti-viral immunity | 11596 | null | RAGE | null | 28,099,113 | Here, we show that RAGE deficiency impairs anti-viral immunity during an early-life infection with pneumonia virus of mice (PVM; a murine analogue of RSV). | null | null | null |
1 | 0 | Biomarker | C0026764 | Multiple Myeloma | disease | MM | 6678 | SPARC | SPARC | CTD_human | 18,172,295 | Moreover, SPARC methylation was associated with loss of SPARC protein expression by immunostaining in a subset of MM patients. | 0.200549 | Moreover, <span class="gene" id="18172295-8-10-15">SPARC</span> methylation was associated with loss of <span class="gene" id="18172295-8-56-61">SPARC</span> protein expression by immunostaining in a subset of <span class="disease" id="18172295-8-114-116">MM</span> patients. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | cancer | 260431 | null | COPD | null | 28,014,694 | Phase angle has been found to be a prognostic indicator in several chronic conditions, such as human immunodeficiency virus, liver cirrhosis, COPD, lung cancer, and patients receiving dialysis. | null | null | null |
null | null | Negative | MESH:D007029 | null | null | hypothalamus | 56718 | null | mTOR | null | 28,130,174 | Overall, both voluntary and forced exercise increased p-mTOR-positive neurons in the medial prefrontal cortex, striatum, hippocampus, hypothalamus, and amygdala compared to locked wheel controls. | null | null | null |
1 | 0 | Biomarker | C0027627 | Neoplasm Metastasis | phenotype | metastasis | 4830 | NME1 | NM23-M1 | CTD_human | 15,928,304 | The lack of NM23-M1 expression promotes metastasis in the SV40 animal model of liver carcinogenesis. | 0.300681 | The lack of <span class="gene" id="15928304-13-12-19">NM23-M1</span> expression promotes <span class="disease" id="15928304-13-40-50">metastasis</span> in the SV40 animal model of liver carcinogenesis. | CTD_human |
2 | 0 | Biomarker | C0020456 | Hyperglycemia | disease | hyperglycemia | 8660 | IRS2 | IRS2 | CTD_human | 20,028,942 | Mice with complete deletion of insulin receptor substrate 2 (IRS2) develop hyperglycemia, impaired hepatic insulin signaling, and elevated gluconeogenesis, whereas mice deficient for protein tyrosine phosphatase (PTP)1B display an opposing hepatic phenotype characterized by increased sensitivity to insulin. | 0.200549 | Mice with complete deletion of <span class="gene" id="20028942-1-31-59">insulin receptor substrate 2</span> (<span class="gene" id="20028942-1-61-65">IRS2</span>) develop <span class="disease" id="20028942-1-75-88">hyperglycemia</span>, impaired hepatic insulin signaling, and elevated gluconeogenesis, whereas mice deficient for protein tyrosine phosphatase (PTP)1B display an opposing hepatic phenotype characterized by increased sensitivity to insulin. | CTD_human |
3 | 0 | Biomarker | C1848519 | WAARDENBURG SYNDROME, TYPE 4A | disease | Shah-Waardenburg syndrome | 1908 | EDN3 | endothelin-3 | CTD_human | 8,630,503 | A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). | 0.401648 | A homozygous mutation in the <span class="gene" id="8630503-0-29-41">endothelin-3</span> gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (<span class="disease" id="8630503-0-121-146">Shah-Waardenburg syndrome</span>). | CTD_human;ORPHANET |
null | null | Negative | MESH:D009461 | null | null | cholinergic deficits | 83817 | null | acetylcholinesterase | null | 28,192,749 | Subsequent analysis showed that oxidative impairment-indicated by depleted superoxide dismutase and lipid peroxidation (related to glutathione-S-transferase activity), cholinergic deficits seen by increased neural acetylcholinesterase (AChE) expression and elevated lactate dehydrogenase underlie behavioural alterations. | null | null | null |
null | null | Negative | MESH:D009103 | null | null | multiple sclerosis | 26820 | null | U24 | null | 28,051,106 | ITC experiments were also carried out for U24 from HHV-6A phosphorylated at Thr6 (pU24-6A) and a peptide containing the PY motif from Nogo-A, a protein implicated in both the initial inflammatory and the neurodegenerative phases of multiple sclerosis (MS). | null | null | null |
null | null | Negative | MESH:D005600 | null | null | osmotic fragility | 15458 | null | hemopexin | null | 28,143,953 | Hemolysis was confirmed by a complete drop in haptoglobin, hemopexin and increased plasma lactate dehydrogenase, an increased red blood cell distribution width and osmotic fragility, a reduced half-life of red blood cells, and increased expression of heme oxygenase 1. | null | null | null |
null | null | Negative | MESH:D064146 | null | null | chemotherapy | 1440 | null | granulocyte colony-stimulating factor | null | 28,022,816 | UNASSIGNED: e16628 Background: Pegfilgrastim is a long-acting granulocyte colony-stimulating factor (G-CSF) used to reduce the duration of neutropenia and the incidence of febrile neutropenia in patients treated with cytotoxic chemotherapy (CT) for malignancy. | null | null | null |
null | null | Negative | MESH:C536030 | null | null | MS | 213 | null | serum albumin | null | 28,105,847 | The system was successfully coupled to an LTQ Orbitrap MS in a simple and efficient way; LC-MS of a trypsin-digested bovine serum albumin (BSA) sample provided narrow peaks, short dwell time, and good peptide coverage. | null | null | null |
null | null | Negative | MESH:D007248 | null | null | male infertility | 99412 | null | GM130 | null | 28,055,014 | Here we showed that inactivation of GM130-caused male infertility in mouse model. | null | null | null |
1 | 0 | Biomarker | C0022521 | Kartagener Syndrome | disease | PCD | 161582 | DYX1C1 | DYX1C1 | CTD_human | 23,872,636 | In humans, we identified recessive loss-of-function DYX1C1 mutations in 12 individuals with PCD. | 0.400549 | In humans, we identified recessive loss-of-function <span class="gene" id="23872636-5-52-58">DYX1C1</span> mutations in 12 individuals with <span class="disease" id="23872636-5-92-95">PCD</span>. | CTD_human;ORPHANET |
8 | 0 | Biomarker | C0017658 | Glomerulonephritis | disease | glomerulonephritis | 213 | ALB | serum albumin | CTD_human | 18,462,998 | Deletion of IL-18 receptor ameliorates renal injury in bovine serum albumin-induced glomerulonephritis. | 0.200824 | Deletion of IL-18 receptor ameliorates renal injury in bovine <span class="gene" id="18462998-0-62-75">serum albumin</span>-induced <span class="disease" id="18462998-0-84-102">glomerulonephritis</span>. | CTD_human |
null | null | Negative | MESH:D014376 | null | null | tuberculosis | 28381674 | null | thioredoxin reductase | null | 28,134,858 | Initially, the project was focused on discovering small molecules that may have antibacterial properties targeting the Mycobacterium tuberculosis thioredoxin reductase. | null | null | null |
null | null | Negative | MESH:D004487 | null | null | edema | 24835 | null | TNFa | 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:D017034 | null | null | Supplementary motor area | 6606 | null | SMA | null | 28,156,248 | UNASSIGNED: OBJECTIVE Supplementary motor area (SMA) epilepsy is a well-known clinical condition; however, long-term surgical outcome reports are scarce and correspond to small series or isolated case reports. | null | null | null |
null | null | Negative | MESH:D064420 | null | null | toxicity | 963084 | null | CPT11 | null | 28,014,406 | We prospectively evaluated toxicity, efficacy and survival of CPT11/FA/5-FU (arm A) versus Etoposide/FA/5-FU (ELF; arm B) in AGC. | null | null | null |
1 | 0 | Biomarker | C0004153 | Atherosclerosis | disease | atherosclerosis | 4312 | MMP1 | MMP-1 | CTD_human | 21,742,783 | In this study, we demonstrate that matrix metalloproteinase-1 (MMP-1), a collagenase expressed in atherosclerosis and aneurysms but not in the normal vessel wall, is induced in the aortic endothelium of rabbits exposed to cigarette smoke. | 0.212478 | In this study, we demonstrate that <span class="gene" id="21742783-2-35-61">matrix metalloproteinase-1</span> (<span class="gene" id="21742783-2-63-68">MMP-1</span>), a collagenase expressed in <span class="disease" id="21742783-2-98-113">atherosclerosis</span> and aneurysms but not in the normal vessel wall, is induced in the aortic endothelium of rabbits exposed to cigarette smoke. | CTD_human |
3 | 0 | Biomarker | C1956346 | Coronary Artery Disease | disease | CAD | 5444 | PON1 | PON1 | CTD_human | 21,629,682 | As studies are lacking in North-West Indian Punjabi's, a distinct ethnic group with high incidence of CAD, we determined PON1 activity, genotypes and haplotypes in this population and correlated them with the risk of CAD. | 0.298077 | As studies are lacking in North-West Indian Punjabi's, a distinct ethnic group with high incidence of <span class="disease" id="21629682-3-102-105">CAD</span>, we determined <span class="gene" id="21629682-3-121-125">PON1</span> activity, genotypes and haplotypes in this population and correlated them with the risk of <span class="disease" id="21629682-3-217-220">CAD</span>. | CTD_human |
null | null | Negative | MESH:D016393 | null | null | B-lymphomas | 21929 | null | A20 | null | 28,004,928 | One of these peptides, 11, was shown to induce complete tumor regression and protective immunity following intralesional treatment of murine A20 B-lymphomas. | null | null | null |
6 | 1 | Biomarker | C0009207 | Cockayne Syndrome | disease | Cockayne syndrome | 2074 | ERCC6 | ERCC6 | CTD_human | 9,443,879 | Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. | 0.24486 | Molecular analysis of mutations in the <span class="gene" id="9443879-0-39-42">CSB</span> (<span class="gene" id="9443879-0-44-49">ERCC6</span>) gene in patients with <span class="disease" id="9443879-0-73-90">Cockayne syndrome</span>. | CTD_human |
2 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | HCC | 51 | ACOX1 | AOX | CTD_human | 12,771,043 | The overall commonality of expression between AOX-/- and ciprofibrate-induced liver tumors but not with DENA-induced tumors strongly implicates the activation of PPARalpha and PPARalpha-regulated genes in liver, including those participating in lipid catabolism, as key factors in the development of HCC in AOX-/- and in ciprofibrate-treated mice. | 0.200824 | The overall commonality of expression between <span class="gene" id="12771043-5-46-49">AOX</span>-/- and ciprofibrate-induced liver tumors but not with DENA-induced tumors strongly implicates the activation of PPARalpha and PPARalpha-regulated genes in liver, including those participating in lipid catabolism, as key factors in the development of <span class="disease" id="12771043-5-300-303">HCC</span> in <span class="gene" id="12771043-5-307-310">AOX</span>-/- and in ciprofibrate-treated mice. | CTD_human |
3 | 0 | Biomarker | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | type 2 diabetes | 9370 | ADIPOQ | APM1 | CTD_human | 12,354,786 | Single-nucleotide polymorphism haplotypes in the both proximal promoter and exon 3 of the APM1 gene modulate adipocyte-secreted adiponectin hormone levels and contribute to the genetic risk for type 2 diabetes in French Caucasians. | 0.324723 | Single-nucleotide polymorphism haplotypes in the both proximal promoter and exon 3 of the <span class="gene" id="12354786-0-90-94">APM1</span> gene modulate adipocyte-secreted adiponectin hormone levels and contribute to the genetic risk for <span class="disease" id="12354786-0-194-209">type 2 diabetes</span> in French Caucasians. | CTD_human |
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