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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
null | null | Negative | MESH:D030342 | null | null | genetic defects | 2767 | null | GNA11 | null | 28,012,237 | Other pigmented neoplasms, such as uveal melanomas and melanocytomas (MCs), are associated with genetic defects in other genes including GNA11. | null | null | null |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 3927 | LASP1 | LASP1 | CTD_human | 17,376,794 | Nominally significant single SNP and/or haplotype-based association results were detected in 15 genes, of which, MYO1D, ACCN1 and LASP1 stand out as genes with autism risk alleles requiring further study, with potential GRRs in the range of 1.34-2.29. | 0.202682 | Nominally significant single SNP and/or haplotype-based association results were detected in 15 genes, of which, MYO1D, ACCN1 and <span class="gene" id="17376794-9-130-135">LASP1</span> stand out as genes with <span class="disease" id="17376794-9-160-166">autism</span> risk alleles requiring further study, with potential GRRs in the range of 1.34-2.29. | CTD_human |
1 | 0 | Biomarker | C0948089 | Acute Coronary Syndrome | disease | ACS | 2597 | GAPDH | glyceraldehyde-3-phosphate dehydrogenase | CTD_human | 21,751,358 | The expression levels of proteins involved in cellular cytoskeleton (F-actin capping, ?-tubulin, ?-tubulin isotypes 1 and 2, vinculin, vimentin and two Ras-related protein Rab-7b isotypes), glycolysis pathway (glyceraldehyde-3-phosphate dehydrogenase, lactate dehydrogenase and two pyruvate kinase isotypes) and cellular-related antioxidant system (manganese superoxide dismutase) and even the expression and activity of glutathione-S-transferase were significantly reduced in platelets from ACS patients compared to CAD patients. | 0.2 | The expression levels of proteins involved in cellular cytoskeleton (F-actin capping, β-tubulin, α-tubulin isotypes 1 and 2, vinculin, vimentin and two Ras-related protein Rab-7b isotypes), glycolysis pathway (<span class="gene" id="21751358-4-210-250">glyceraldehyde-3-phosphate dehydrogenase</span>, lactate dehydrogenase and two pyruvate kinase isotypes) and cellular-related antioxidant system (manganese superoxide dismutase) and even the expression and activity of glutathione-S-transferase were significantly reduced in platelets from <span class="disease" id="21751358-4-492-495">ACS</span> patients compared to CAD patients. | CTD_human |
null | null | Negative | MESH:D014390 | null | null | TB | 3558 | null | IL-2 | null | 28,033,330 | The concentration of IFN-y, IP-10, and IL-2 was determined in peripheral blood mononuclear cells (PBMCs) after short-term (24h) or long-term (72h) stimulation with TB antigens including ESAT-6/CFP-10 (EC) and purified protein derivative (PPD).EC-stimulated IL-2 and gamma interferon-inducible protein 10 (IP-10) release (24h and 72h) showed a good diagnostic performance in distinguishing between TB-infected and TB-uninfected individuals, but failed to discriminate between ATB and LTBI. | null | null | null |
null | null | Negative | MESH:D020426 | null | null | hyperglycemic SCs and sciatic nerve | 3630 | null | insulin | null | 28,065,675 | We also studied the ability of insulin to regulate the expression of different receptor substrates like insulin receptor substrate-1 (IRS1), insulin receptor substrate-2 (IRS2) and growth factor receptor-bound protein-2 (GRB2) that propagate the insulin signaling and also their variation in hyperglycemic SCs and sciatic nerve of the diabetic rats. | null | null | null |
null | null | Negative | MESH:C564650 | null | null | GIST | 947 | null | CD34 | null | 28,020,907 | GIST expressing CD34 have a better PFS. | null | null | null |
1 | 0 | Therapeutic | C0009375 | Colonic Neoplasms | group | colon tumors | 11156 | PTP4A3 | Ptp4a3 | CTD_human | 23,555,575 | Ptp4a3-null mice developed 50% fewer colon tumors than wildtype mice after exposure to azoxymethane and dextran sodium sulfate. | 0.200549 | <span class="gene" id="23555575-10-0-6">Ptp4a3</span>-null mice developed 50% fewer <span class="disease" id="23555575-10-37-49">colon tumors</span> than wildtype mice after exposure to azoxymethane and dextran sodium sulfate. | CTD_human |
null | null | Negative | MESH:D015419 | null | null | hereditary spastic paraplegia | 85465 | null | ethanolaminephosphotransferase 1 | null | 28,052,917 | Here, we report an unusual autosomal recessive neurodegenerative condition, best classified as a complicated form of hereditary spastic paraplegia, associated with mutation in the ethanolaminephosphotransferase 1 (EPT1) gene (now known as SELENOI), responsible for the final step in Kennedy pathway forming phosphatidylethanolamine from CDP-ethanolamine. | null | null | null |
null | null | Negative | MESH:D058729 | null | null | PAD | 17196 | null | mBP | null | 28,197,286 | RESULTS: SBP, mBP, PP, UT, and %MAP in the PAD group were significantly higher. | null | null | null |
1 | 0 | Biomarker | C0036341 | Schizophrenia | disease | SZ | 220988 | HNRNPA3 | HNRPA3 | CTD_human | 16,223,876 | Implementing this systematic approach, we: (i) discovered 177 putative SZ risk genes in brain, 28 of which map to linked chromosomal loci; (ii) delineated six biological processes and 12 molecular functions that may be particularly disrupted in the illness; (iii) identified 123 putative SZ biomarkers in blood, 6 of which (BTG1, GSK3A, HLA-DRB1, HNRPA3, SELENBP1, and SFRS1) had corresponding differential expression in brain; (iv) verified the differential expression of the strongest candidate SZ biomarker (SELENBP1) in blood; and (v) demonstrated neuronal and glial expression of SELENBP1 protein in brain. | 0.200275 | Implementing this systematic approach, we: (i) discovered 177 putative <span class="disease" id="16223876-4-71-73">SZ</span> risk genes in brain, 28 of which map to linked chromosomal loci; (ii) delineated six biological processes and 12 molecular functions that may be particularly disrupted in the illness; (iii) identified 123 putative SZ biomarkers in blood, 6 of which (BTG1, GSK3A, HLA-DRB1, <span class="gene" id="16223876-4-347-353">HNRPA3</span>, SELENBP1, and SFRS1) had corresponding differential expression in brain; (iv) verified the differential expression of the strongest candidate SZ biomarker (SELENBP1) in blood; and (v) demonstrated neuronal and glial expression of SELENBP1 protein in brain. | CTD_human |
1 | 0 | Biomarker | C0014556 | Epilepsy, Temporal Lobe | disease | temporal lobe epilepsy | 2912 | GRM2 | mGlu2 | CTD_human | 18,804,094 | These data indicate a long-lasting impairment of mGlu2/3 expression that may contribute to abnormal presynaptic plasticity, exaggerate glutamate release and hyperexcitability in temporal lobe epilepsy. | 0.200275 | These data indicate a long-lasting impairment of <span class="gene" id="18804094-8-49-54">mGlu2</span>/3 expression that may contribute to abnormal presynaptic plasticity, exaggerate glutamate release and hyperexcitability in <span class="disease" id="18804094-8-178-200">temporal lobe epilepsy</span>. | CTD_human |
null | null | Negative | MESH:D014947 | null | null | burn injury | 16658 | null | MafB | null | 28,031,160 | Overall, results demonstrate that b-adrenergic blockers following burn injury can redirect the hematopoietic commitment toward erythroid lineage by lowering MafB expression in multipotent progenitors and be of potential therapeutic value to increase erythropoietin responsiveness in burn patients. | null | null | null |
null | null | Negative | MESH:D011475 | null | null | OS | 4524 | null | MTHFR | null | 28,021,222 | In addition, there was a statistically significant association been MTHFR A1298C rs1801131 and OS (p=0.044). | null | null | null |
null | null | Negative | MESH:D019294 | null | null | CTX | 25295 | null | osteocalcin | null | 28,015,551 | Serum bone biomarkers osteocalcin (OC) and C-terminal telopeptides (CTX) were measured at 0, 1.5, 4 and 6 wks by ELISA. | null | null | null |
2 | 0 | Biomarker | C0020429 | Hyperalgesia | phenotype | hyperalgesia | 5594 | MAPK1 | ERK | CTD_human | 12,941,468 | The upstream inhibitor of ERK phosphorylation, U0126 (100-400 microg/kg, i.v., 10 min pre-capsaicin), dose-dependently inhibited referred hyperalgesia 3-6 h after capsaicin. | 0.2 | The upstream inhibitor of <span class="gene" id="12941468-7-26-29">ERK</span> phosphorylation, U0126 (100-400 microg/kg, i.v., 10 min pre-capsaicin), dose-dependently inhibited referred <span class="disease" id="12941468-7-138-150">hyperalgesia</span> 3-6 h after capsaicin. | CTD_human |
null | null | Negative | OMIM:612348 | null | null | mitogen-activated protein | 5601 | null | SAPK | null | 28,087,833 | We previously reported that DPAA induces cellular activation in cultured rat cerebellar astrocytes, dose-dependent promotion of cell growth (low DPAA), cell death (high DPAA), and increased phosphorylation of mitogen-activated protein (MAP) kinases (p38MAPK, SAPK/JNK, and ERK1/2). | null | null | null |
2 | 0 | Biomarker | C0036572 | Seizures | phenotype | seizure | 2572 | GAD2 | GAD65 | CTD_human | 8,985,701 | Labeling for GAD65 mRNA and associated protein is substantially increased in the remaining GABA neurons at 2-4 months after the initial seizure episode. | 0.200275 | Labeling for <span class="gene" id="8985701-6-13-18">GAD65</span> mRNA and associated protein is substantially increased in the remaining GABA neurons at 2-4 months after the initial <span class="disease" id="8985701-6-136-143">seizure</span> episode. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 16193 | null | IL-6 | null | 28,081,628 | SC or SCH significantly inhibited the levels of IL-6, tumor necrosis factor (TNF)-[Formula: see text], and IL-1[Formula: see text] in spleen of the OVA-sensitized mice. | null | null | null |
2 | 0 | Biomarker | C0014175 | Endometriosis | disease | endometriosis | 6715 | SRD5A1 | SRD5A1 | CTD_human | 23,183,084 | Altogether, our data in this Z-12 cell model suggest that the beneficial effects of treatment with progestin observed in endometriosis patients might arise from decreased pre-receptor metabolism of the protective progesterone by the SRD5A1 and AKR1C enzymes. | 0.2 | Altogether, our data in this Z-12 cell model suggest that the beneficial effects of treatment with progestin observed in <span class="disease" id="23183084-11-121-134">endometriosis</span> patients might arise from decreased pre-receptor metabolism of the protective progesterone by the <span class="gene" id="23183084-11-233-239">SRD5A1</span> and AKR1C enzymes. | CTD_human |
2 | 0 | Biomarker | C0424295 | Hyperactive behavior | phenotype | hyperactivity | 2890 | GRIA1 | GluR1 | CTD_human | 18,171,924 | Intrahippocampal infusion studies with the AMPA-specific inhibitor GYKI 52466 [4-(8-methyl-9H-1,3-dioxolo[4,5-h][2,3]benzodiazepin-5-yl)-benzenamine hydrochloride], a GluR1-specific TAT-S845 peptide, showed that GluR1/2 was essential for the development of manic/hedonic-like behaviors such as amphetamine-induced hyperactivity. | 0.2 | Intrahippocampal infusion studies with the AMPA-specific inhibitor GYKI 52466 [4-(8-methyl-9H-1,3-dioxolo[4,5-h][2,3]benzodiazepin-5-yl)-benzenamine hydrochloride], a <span class="gene" id="18171924-6-167-172">GluR1</span>-specific TAT-S845 peptide, showed that <span class="gene" id="18171924-6-212-217">GluR1</span>/2 was essential for the development of manic/hedonic-like behaviors such as amphetamine-induced <span class="disease" id="18171924-6-314-327">hyperactivity</span>. | CTD_human |
null | null | Negative | MESH:D058225 | null | null | amyloid deposits | 3375 | null | hIAPP | null | 28,198,575 | Human islet amyloid polypeptide (hIAPP), a major constituent of islet amyloid deposits, induces pancreatic b-cell apoptosis and eventually contributes to b-cell deficit in patients with type 2 diabetes mellitus (T2DM). | null | null | null |
1 | 0 | Therapeutic | C0030567 | Parkinson Disease | disease | PD | 3303 | HSPA1A | HSPA1A | CTD_human | 15,585,408 | Here we tested the potential of Hsp70 (approved gene symbol HSPA1A) for gene therapy in the 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) mouse model of idiopathic PD. | 0.202682 | Here we tested the potential of Hsp70 (approved gene symbol <span class="gene" id="15585408-6-60-66">HSPA1A</span>) for gene therapy in the 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) mouse model of idiopathic <span class="disease" id="15585408-6-170-172">PD</span>. | CTD_human |
null | null | Negative | MESH:D064420 | null | null | cytotoxicity | 16642 | null | NKG2C | null | 28,031,335 | These data suggest ThCTL are marked by the expression of NKG2C/E and represent a unique CD4 effector population specialized for cytotoxicity. | null | null | null |
1 | 0 | Biomarker | C0001430 | Adenoma | group | adenomas | 2705 | GJB1 | Cx32 | CTD_human | 16,926,031 | Surprisingly, in lung adenomas Cx32 and Cx43 expressions were not detected, although the expression of connexins 26 and 46 was present. | 0.2 | Surprisingly, in lung <span class="disease" id="16926031-11-22-30">adenomas</span> <span class="gene" id="16926031-11-31-35">Cx32</span> and Cx43 expressions were not detected, although the expression of connexins 26 and 46 was present. | CTD_human |
7 | 1 | Biomarker | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | type 2 diabetes | 3667 | IRS1 | IRS1 | CTD_human | 19,734,900 | Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia. | 0.669945 | Genetic variant near <span class="gene" id="19734900-0-21-25">IRS1</span> is associated with <span class="disease" id="19734900-0-45-60">type 2 diabetes</span>, insulin resistance and hyperinsulinemia. | CTD_human;UNIPROT |
null | null | Negative | MESH:D064420 | null | null | toxicities | 20692 | null | SPARC | null | 28,022,703 | In this study we evaluated paclitaxel (P) and NP toxicities; SPARC's role in NP sensitivity; intraperitoneal NP effect and maximum tolerated dose (MTD) in mice with ovarian cancer. | null | null | null |
1 | 0 | Biomarker | C0030312 | Pancytopenia | disease | pancytopenia | 1719 | DHFR | DHFR | CTD_human | 21,310,276 | We describe three individuals from two families with a recessive inborn error of metabolism, characterized by megaloblastic anemia and/or pancytopenia, severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency due to a germline missense mutation in DHFR, resulting in profound enzyme deficiency. | 0.4 | We describe three individuals from two families with a recessive inborn error of metabolism, characterized by megaloblastic anemia and/or <span class="disease" id="21310276-2-138-150">pancytopenia</span>, severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency due to a germline missense mutation in <span class="gene" id="21310276-2-270-274">DHFR</span>, resulting in profound enzyme deficiency. | CTD_human;HPO |
null | null | Negative | MESH:D017695 | null | null | tissue microarray | 2064 | null | HER2 | null | 28,196,634 | HER2 antibodies targeting ICD (CB11) and ECD (SP3) were validated and standardized using the AQUA method of quantitative immunofluorescence (QIF) and a previously reported HER2 standardization tissue microarray (TMA). | null | null | null |
11 | 4 | Biomarker | C0023467 | Leukemia, Myelocytic, Acute | disease | acute myeloid leukemia | 2322 | FLT3 | FLT3 | CTD_human | 21,482,694 | Potent activity of ponatinib (AP24534) in models of FLT3-driven acute myeloid leukemia and other hematologic malignancies. | 0.52 | Potent activity of ponatinib (AP24534) in models of <span class="gene" id="21482694-0-52-56">FLT3</span>-driven <span class="disease" id="21482694-0-64-86">acute myeloid leukemia</span> and other hematologic malignancies. | CTD_human |
null | null | Negative | MESH:D008545 | null | null | melanoma | 353326 | null | MART1 | null | 28,178,658 | MART1, a human melanoma-specific tumor antigen, was used to induce an increased immune reaction, since a MART1-protective response is required to overcome immune tolerance to the melanoma antigen MelanA. | null | null | null |
4 | 0 | Biomarker | C0018824 | Heart valve disease | group | cardiac valvulopathy | 3357 | HTR2B | 5-HT(2B | CTD_human | 11,104,741 | Evidence for possible involvement of 5-HT(2B) receptors in the cardiac valvulopathy associated with fenfluramine and other serotonergic medications. | 0.28 | Evidence for possible involvement of <span class="gene" id="11104741-0-37-44">5-HT(2B</span>) receptors in the <span class="disease" id="11104741-0-63-83">cardiac valvulopathy</span> associated with fenfluramine and other serotonergic medications. | CTD_human |
2 | 0 | Biomarker | C0024121 | Lung Neoplasms | group | lung tumor | 7276 | TTR | transthyretin | CTD_human | 17,902,193 | Notably, we demonstrate significant regulation of alpha-1-antitrypsin, alpha-2-macroglobulin, hemoglobin subunit alpha, vitamin D-binding protein, major urinary proteins, and transthyretin (up to eight-fold) in serum of lung tumor bearing mice. | 0.205466 | Notably, we demonstrate significant regulation of alpha-1-antitrypsin, alpha-2-macroglobulin, hemoglobin subunit alpha, vitamin D-binding protein, major urinary proteins, and <span class="gene" id="17902193-7-175-188">transthyretin</span> (up to eight-fold) in serum of <span class="disease" id="17902193-7-220-230">lung tumor</span> bearing mice. | CTD_human |
null | null | Negative | MESH:D006130 | null | null | transforming growth factor b | 21803 | null | TGFB | null | 28,174,730 | BACKGROUND _ AIMS: Pancreatic stellate cells (PSCs) regulate the development of chronic pancreatitis (CP) and are activated by the cytokine transforming growth factor b (TGFB). | null | null | null |
null | null | Negative | MESH:D014897 | null | null | SMA | 302582 | null | KLF8 | null | 28,066,139 | The promoter activity of SMA, SM22a, and KLF8 was significantly elevated in the contractile phenotype of VSMCs. | null | null | null |
1 | 0 | Biomarker | C0024305 | Lymphoma, Non-Hodgkin | disease | NHL | 4524 | MTHFR | MTHFR | CTD_human | 17,488,658 | Our data suggest that MTHFR gene variants play a critical role in NHL outcome, possibly by interfering with the action of methotrexate with significant effects on toxicity and survival. | 0.218563 | Our data suggest that <span class="gene" id="17488658-15-22-27">MTHFR</span> gene variants play a critical role in <span class="disease" id="17488658-15-66-69">NHL</span> outcome, possibly by interfering with the action of methotrexate with significant effects on toxicity and survival. | CTD_human |
1 | 0 | Therapeutic | C0009319 | Colitis | disease | colitis | 3565 | IL4 | interleukin-4 | CTD_human | 24,314,293 | Effects of interleukin-4 or interleukin-10 gene therapy on trinitrobenzenesulfonic acid-induced murine colitis. | 0.201099 | Effects of <span class="gene" id="24314293-0-11-24">interleukin-4</span> or interleukin-10 gene therapy on trinitrobenzenesulfonic acid-induced murine <span class="disease" id="24314293-0-103-110">colitis</span>. | CTD_human |
1 | 0 | Biomarker | C0149925 | Small cell carcinoma of lung | disease | SCLC | 3815 | KIT | c-kit | CTD_human | 15,499,612 | The level of c-kit mRNA expression was variable in SCLC tumors (positive for 2 of 4 xenografts), and c-kit protein was not detected by immunohistochemistry. | 0.2107 | The level of c-kit mRNA expression was variable in <span class="disease" id="15499612-4-51-55">SCLC</span> tumors (positive for 2 of 4 xenografts), and <span class="gene" id="15499612-4-101-106">c-kit</span> protein was not detected by immunohistochemistry. | CTD_human |
null | null | Negative | MESH:C564650 | null | null | GIST | 5156 | null | PDGFRa | null | 28,013,691 | Inclusion criterias were: advanced GIST, expressing KIT or PDGFRa mutation. | null | null | null |
1 | 0 | Therapeutic | C0021390 | Inflammatory Bowel Diseases | group | inflammatory bowel disease | 8876 | VNN1 | pantetheinase | CTD_human | 17,145,956 | Thus, the Vanin-1/pantetheinase activity might be a new target for therapeutic intervention in inflammatory bowel disease. | 0.200275 | Thus, the <span class="gene" id="17145956-7-10-17">Vanin-1</span>/<span class="gene" id="17145956-7-18-31">pantetheinase</span> activity might be a new target for therapeutic intervention in <span class="disease" id="17145956-7-95-121">inflammatory bowel disease</span>. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 21926 | null | TNF-alpha | null | 28,137,091 | Tumor regression was associated with the production of the Th1-cytokines, IFN-gamma and TNF-alpha by tumor-infiltrating CD4+ and CD8+ T cells within 1 week of treatment initiation. | null | null | null |
null | null | Negative | MESH:D000377 | null | null | time to pregnancy | 7538 | null | TTP | null | 28,061,371 | Women (n=94) with planned pregnancies of 5-20 weeks gestation completed a comprehensive physician-administered study questionnaire and reported the number of menstrual cycles attempting to conceive as the time to pregnancy (TTP). | null | null | null |
4 | 7 | Biomarker | C0022595 | Keratosis Follicularis | disease | DD | 488 | ATP2A2 | SERCA2 | CTD_human | 20,338,123 | Darier disease (DD) and Hailey-Hailey disease (HHD) are rare autosomal dominantly inherited genodermatoses with mutations in the respective genes, ATP2A2 and ATP2C1, that encode the respective calcium adenosine triphosphatases SERCA2 and PMRI/SPCA1. | 0.723762 | <span class="disease" id="20338123-1-0-14">Darier disease</span> (<span class="disease" id="20338123-1-16-18">DD</span>) and Hailey-Hailey disease (HHD) are rare autosomal dominantly inherited genodermatoses with mutations in the respective genes, <span class="gene" id="20338123-1-147-153">ATP2A2</span> and ATP2C1, that encode the respective calcium adenosine triphosphatases <span class="gene" id="20338123-1-227-233">SERCA2</span> and PMRI/SPCA1. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D020299 | null | null | HICH | 268 | null | MIS | null | 28,096,671 | Therefore, this meta-analysis was conducted to systematically assess whether the addition of local MHT (LMHT) could significantly improve the efficacy of minimally invasive surgery (MIS) in treating HICH. | null | null | null |
null | null | Negative | MESH:D018805 | null | null | sepsis | 11596 | null | RAGE | null | 28,052,995 | These findings demonstrate the role for RAGE-dependent IL-10 suppression as a key modulator of mortality from Gram-negative sepsis. | null | null | null |
2 | 1 | Biomarker | C0038505 | Sturge-Weber Syndrome | disease | Sturge-Weber syndrome | 2776 | GNAQ | GNAQ | CTD_human | 23,656,586 | Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. | 0.601374 | <span class="disease" id="23656586-0-0-21">Sturge-Weber syndrome</span> and port-wine stains caused by somatic mutation in <span class="gene" id="23656586-0-73-77">GNAQ</span>. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D018805 | null | null | sepsis | 15289 | null | HMGB-1 | null | 28,145,460 | CGA-JK3 consequently interrupted IKKb-inducible NF-kB activation and NF-kB-regulated expression of TNF-a, IL-1a or HMGB-1 gene, thereby improving TLRs-associated redundant inflammatory responses in endotoxemia, polymicrobial sepsis and ALF. | null | null | null |
null | null | Negative | MESH:D017827 | null | null | WT | 11647 | null | TNAP | null | 28,039,309 | Decreased T cell activation was reproduced by the TNAP inhibitors levamisole, theophylline, and phenylalanine in WT cells. | null | null | null |
1 | 0 | Biomarker | C0235833 | Congenital diaphragmatic hernia | disease | congenital diaphragmatic hernia | 5292 | PIM1 | PIM-1 | CTD_human | 25,812,446 | Increased expression of activated pSTAT3 and PIM-1 in the pulmonary vasculature of experimental congenital diaphragmatic hernia. | 0.2 | Increased expression of activated pSTAT3 and <span class="gene" id="25812446-0-45-50">PIM-1</span> in the pulmonary vasculature of experimental <span class="disease" id="25812446-0-96-127">congenital diaphragmatic hernia</span>. | CTD_human |
null | null | Negative | MESH:D004342 | null | null | hypersensitivity | 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:D007249 | null | null | inflammation | 114132 | null | Siglec-11 | null | 28,100,677 | Here, we studied the inhibitory receptor Siglec-11 that shows uniquely human expression in brain microglia and engages endogenous polysialic acid to suppress inflammation. | null | null | null |
1 | 0 | Biomarker | C0019569 | Hirschsprung Disease | disease | Hirschsprung's disease | 407000 | MIR218-1 | miR-218-1 | CTD_human | 25,786,906 | SLIT2/ROBO1-miR-218-1-RET/PLAG1: a new disease pathway involved in Hirschsprung's disease. | 0.200275 | SLIT2/ROBO1-<span class="gene" id="25786906-0-12-21">miR-218-1</span>-RET/PLAG1: a new disease pathway involved in <span class="disease" id="25786906-0-67-89">Hirschsprung's disease</span>. | CTD_human |
1 | 0 | Biomarker | C0020514 | Hyperprolactinemia | disease | Hyperprolactinemia | 2571 | GAD1 | GAD | CTD_human | 7,138,674 | Hyperprolactinemia induced by anterior pituitary homograft under the kidney capsule or systemic sulpiride injection significantly increases GAD activity. | 0.2 | <span class="disease" id="7138674-5-0-18">Hyperprolactinemia</span> induced by anterior pituitary homograft under the kidney capsule or systemic sulpiride injection significantly increases <span class="gene" id="7138674-5-140-143">GAD</span> activity. | CTD_human |
null | null | Negative | MESH:D064146 | null | null | CHT | 963084 | null | CPT11 | null | 28,014,096 | We assessed the efficacy and tolerability of a ternary BW CPT11-OHP-infusional FU/FA combination in MCRC pts pretreated with CPT11 and/or OHP-based CHT using lower and potentially more tolerable doses. | null | null | null |
3 | 0 | Biomarker | C0021364 | Male infertility | phenotype | male infertility | 367 | AR | androgen receptor | CTD_human | 18,554,162 | Thus in a very near future, for a comprehensive male infertility panel, it will be essential to include additional genetic tests, such as CFTR gene mutations, sperm mitochondrial DNA mutations, and androgen receptor gene mutations, besides the conventional chromosomal analyses, Y chromosome microdeletion detection, and sperm-FISH analyses. | 0.2692 | Thus in a very near future, for a comprehensive <span class="disease" id="18554162-11-48-64">male infertility</span> panel, it will be essential to include additional genetic tests, such as CFTR gene mutations, sperm mitochondrial DNA mutations, and <span class="gene" id="18554162-11-198-215">androgen receptor</span> gene mutations, besides the conventional chromosomal analyses, Y chromosome microdeletion detection, and sperm-FISH analyses. | CTD_human |
null | null | Negative | MESH:D016301 | null | null | bone loss | 286779 | null | ATP6V1H | null | 28,158,191 | These studies have uncovered a new, ATP6V1H-mediated pathway that regulates bone formation, and defines a new mechanism of disease that leads to bone loss. | null | null | null |
1 | 0 | Biomarker | C0013384 | Dyskinetic syndrome | disease | dyskinesia | 4988 | OPRM1 | mu opioid receptor | CTD_human | 16,435,402 | Carrying the G-allele of the A118G single nucleotide coding region polymorphism of the mu opioid receptor, as well as a history of never smoking, were independently associated with increased risk of earlier onset of dyskinesia (P=0.05 and 0.02, respectively). | 0.200275 | Carrying the G-allele of the A118G single nucleotide coding region polymorphism of the <span class="gene" id="16435402-5-87-105">mu opioid receptor</span>, as well as a history of never smoking, were independently associated with increased risk of earlier onset of <span class="disease" id="16435402-5-216-226">dyskinesia</span> (P=0.05 and 0.02, respectively). | CTD_human |
null | null | Negative | MESH:C536769 | null | null | Asian female | 1956 | null | epidermal growth factor receptor | null | 28,029,530 | INTRODUCTION: We examined the effect of access to epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor (TKI) therapy on survival for Asian female (AF) EGFR mutation-enriched patients with advanced lung adenocarcinoma. | null | null | null |
1 | 0 | Biomarker | C0043459 | Zellweger Syndrome | disease | Zellweger syndrome | 5824 | PEX19 | PEX19 | CTD_human | 10,051,604 | Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly. | 0.4 | Human <span class="gene" id="10051604-0-6-11">PEX19</span>: cDNA cloning by functional complementation, mutation analysis in a patient with <span class="disease" id="10051604-0-93-111">Zellweger syndrome</span>, and potential role in peroxisomal membrane assembly. | CTD_human;ORPHANET |
null | null | Negative | MESH:D009369 | null | null | cancer | 574058 | null | PD-L1 | null | 28,072,971 | Results: The expression of PD-L1 and PD-1 in the tumor cells and interstitial lymphocytes in TNBC was significantly (P<0.05)higher than that in non-TNBC.In TNBC, the expression rates of PD-L1 in the cancer nests and stroma were 16.6%(25/151) and 25.2%(38/151)respectively.The former was positively correlated with tumor histological grade and lymph node metastasis (P<0.05), and the latter only with tumor histological grade (P<0.05). | null | null | null |
null | null | Negative | MESH:D014652 | null | null | vascular dysfunction | 56632 | null | SphK2 | null | 28,082,452 | Specifically, SphK2 evolves as key player in immune cell trafficking and vascular dysfunction contributing to the development of overt hypertension. | null | null | null |
null | null | Negative | MESH:D020176 | null | null | hereditary tyrosinemia type 1 | 14085 | null | fumarylacetoacetate hydrolase | null | 28,192,681 | Here, the integrase system was used to transfer the fumarylacetoacetate hydrolase (FAH) gene into the liver of mice affected with hereditary tyrosinemia type 1. | null | null | null |
5 | 0 | Biomarker | C0268419 | Acatalasia | disease | acatalasemia | 847 | CAT | catalase | CTD_human | 11,001,624 | Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia. | 0.403571 | Anovel <span class="gene" id="11001624-0-7-15">catalase</span> mutation (a GA insertion) causes the Hungarian type of <span class="disease" id="11001624-0-71-83">acatalasemia</span>. | CTD_human;ORPHANET |
1 | 1 | Biomarker | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | T2D | 9861 | PSMD6 | PSMD6 | CTD_human | 22,158,537 | The combined analysis identified eight new T2D loci reaching genome-wide significance, which mapped in or near GLIS3, PEPD, FITM2-R3HDML-HNF4A, KCNK16, MAEA, GCC1-PAX4, PSMD6 and ZFAND3. | 0.200275 | The combined analysis identified eight new <span class="disease" id="22158537-3-43-46">T2D</span> loci reaching genome-wide significance, which mapped in or near GLIS3, PEPD, FITM2-R3HDML-HNF4A, KCNK16, MAEA, GCC1-PAX4, <span class="gene" id="22158537-3-169-174">PSMD6</span> and ZFAND3. | CTD_human |
1 | 0 | Biomarker | C0023473 | Myeloid Leukemia, Chronic | disease | CML | 768 | CA9 | G250 | CTD_human | 17,157,168 | Several LAAs are expressed in CML and therefore are candidate structures for specific immunotherapies: bcr-abl (100%), G250 (24%), hTERT (53%), MPP11 (91%), NEWREN60 (94%), PRAME (62%), Proteinase3 (71%), RHAMM/CD168 (83%), and WT1 (53%), but not BAGE, MAGE-A1, SSX2, or NY-ESO-1. | 0.200275 | Several LAAs are expressed in <span class="disease" id="17157168-3-30-33">CML</span> and therefore are candidate structures for specific immunotherapies: bcr-abl (100%), <span class="gene" id="17157168-3-119-123">G250</span> (24%), hTERT (53%), MPP11 (91%), NEWREN60 (94%), PRAME (62%), Proteinase3 (71%), RHAMM/CD168 (83%), and WT1 (53%), but not BAGE, MAGE-A1, SSX2, or NY-ESO-1. | CTD_human |
null | null | Negative | MESH:D055370 | null | null | lung injury | 24338 | null | ERK | null | 28,057,160 | Conclusion: Traditional Chinese medicine glabridin significantly ameliorated the lung injury induced by LPS in rats via reducing inflammation which caused by the inhibition of p38MAPK and ERK signaling pathway and antioxidant effect. | null | null | null |
null | null | Negative | MESH:D002813 | null | null | chondrosarcoma | 7076 | null | TIMP-1, type II collagen | null | 28,035,378 | Surgical pathological specimens were collected to detect MMP-1, MMP-13, TIMP-1, type II collagen and phosphorylated MAPK levels in normal cartilage, enchondroma and chondrosarcoma tissues. | null | null | null |
2 | 0 | Biomarker | C0017636 | Glioblastoma | disease | glioblastomas | 7052 | TGM2 | Tissue transglutaminase 2 | CTD_human | 16,170,020 | Tissue transglutaminase 2 inhibition promotes cell death and chemosensitivity in glioblastomas. | 0.200549 | <span class="gene" id="16170020-0-0-25">Tissue transglutaminase 2</span> inhibition promotes cell death and chemosensitivity in <span class="disease" id="16170020-0-81-94">glioblastomas</span>. | CTD_human |
2 | 0 | Biomarker | C0029408 | Degenerative polyarthritis | disease | osteoarthritis | 4088 | SMAD3 | SMAD3 | CTD_human | 21,217,753 | Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. | 0.207953 | Mutations in <span class="gene" id="21217753-0-13-18">SMAD3</span> cause a syndromic form of aortic aneurysms and dissections with early-onset <span class="disease" id="21217753-0-95-109">osteoarthritis</span>. | CTD_human |
null | null | Negative | MESH:D002289 | null | null | non-small cell lung cancer | 116986 | null | AGAP2 | null | 28,209,205 | Recently, the lncRNA AGAP2-AS1 was identified as an oncogenic lncRNA in human non-small cell lung cancer (NSCLC) and its elevated expression was linked to NSCLC development and progression. | null | null | null |
1 | 0 | Biomarker | C0019151 | Hepatic Encephalopathy | disease | HE | 4988 | OPRM1 | mu-opioid receptor | CTD_human | 11,991,257 | The mean density of mu-opioid receptor sites (Bmax) in rats with stage II, III, and IV HE was 15, 29, and 33% higher, respectively, than the corresponding control value (p<0.01). | 0.2 | The mean density of <span class="gene" id="11991257-6-20-38">mu-opioid receptor</span> sites (Bmax) in rats with stage II, III, and IV <span class="disease" id="11991257-6-87-89">HE</span> was 15, 29, and 33% higher, respectively, than the corresponding control value (p<0.01). | CTD_human |
6 | 0 | Biomarker | C0036572 | Seizures | phenotype | seizures | 1392 | CRH | Corticotropin-releasing hormone | CTD_human | 1,596,084 | Corticotropin-releasing hormone-induced seizures in infant rats originate in the amygdala. | 0.200275 | <span class="gene" id="1596084-0-0-31">Corticotropin-releasing hormone</span>-induced <span class="disease" id="1596084-0-40-48">seizures</span> in infant rats originate in the amygdala. | CTD_human |
null | null | Negative | MESH:D000163 | null | null | AIDS | 920 | null | CD4 | null | 28,052,943 | It is the fourth most common infection in AIDS (CD4 counts <100/mm(3)). | null | null | null |
1 | 0 | Biomarker | C0424295 | Hyperactive behavior | phenotype | hyperactivity | 26047 | CNTNAP2 | CNTNAP2 | CTD_human | 21,962,519 | Cntnap2(-/-) mice show deficits in the three core ASD behavioral domains, as well as hyperactivity and epileptic seizures, as have been reported in humans with CNTNAP2 mutations. | 0.400824 | <span class="gene" id="21962519-4-0-7">Cntnap2</span>(-/-) mice show deficits in the three core ASD behavioral domains, as well as <span class="disease" id="21962519-4-85-98">hyperactivity</span> and epileptic seizures, as have been reported in humans with <span class="gene" id="21962519-4-160-167">CNTNAP2</span> mutations. | CTD_human;HPO |
2 | 0 | Biomarker | C0033860 | Psoriasis | disease | psoriasis | 79092 | CARD14 | CARD14 | CTD_human | 24,212,883 | We discovered two independent missense SNVs in IL23R and GJB2 of low frequency and five common missense SNVs in LCE3D, ERAP1, CARD14 and ZNF816A associated with psoriasis at genome-wide significance. | 0.205495 | We discovered two independent missense SNVs in IL23R and GJB2 of low frequency and five common missense SNVs in LCE3D, ERAP1, <span class="gene" id="24212883-2-126-132">CARD14</span> and ZNF816A associated with <span class="disease" id="24212883-2-161-170">psoriasis</span> at genome-wide significance. | CTD_human |
null | null | Negative | MESH:D005199 | null | null | FA | 672;675 | null | BRCA-1/2 | null | 28,022,858 | Evaluate biomarkers in primary tumor that could predict response to PARPi such as BRCA-1/2, FANCD2 nuclear foci formation (using the FA Triple Stain Immunofluroscence test/FATSI) and expression of miR 155 (oncogenic miR that targets DNA repair genes). | null | null | null |
null | null | Negative | MESH:C536657 | null | null | TNF | 5970 | null | RELA | null | 28,039,105 | In BEAS-2B cells, TNF recruited RELA, the main NF-kB transactivating subunit, to a 3' region of the TNF gene. | null | null | null |
null | null | Negative | MESH:C565169 | null | null | C3-deficient | 12902 | null | CR2 | null | 28,045,880 | RESULTS: Allografts in C3-deficient or CR2-Crry-treated recipients were protected from skin and muscle ischemia-reperfusion injury (IRI). | null | null | null |
null | null | Negative | MESH:D046150 | null | null | Growth hormone receptor deficiency | 3479 | null | insulin-like growth factor 1 | null | 28,073,935 | UNASSIGNED: Growth hormone receptor deficiency (GHRD) results in short stature, enhanced insulin sensitivity, and low circulating levels of insulin and insulin-like growth factor 1 (IGF-1). | null | null | null |
null | null | Negative | MESH:D046351 | null | null | EPP | 9518 | null | growth differentiation factor (GDF) 15 | null | 28,185,024 | Among EPP patients, PPIX concentrations correlated with both growth differentiation factor (GDF) 15 (p = 0.012) and male gender (p = 0.015). | null | null | null |
null | null | Negative | MESH:D000795 | null | null | ALPHA | 328 | null | APEX-AMI | null | 28,029,531 | The ALPHA, GRACE 2.0, APEX-AMI, and CADILLAC models predicted 30-day mortality better than the PAMI score (p=0.005, 0.004, 0.01, and 0.02, respectively). | null | null | null |
null | null | Negative | MESH:D002289 | null | null | NSCLC | 81897 | null | TLR9 | null | 28,015,116 | This study examines the enhancement of paclitaxel (Taxol ) chemotherapy by concomitant immunomodulation with ProMune( ) (CPG 7909), a TLR9 agonist which is currently in a clinical trial for NSCLC. | null | null | null |
null | null | Negative | MESH:D000592 | null | null | RA | 232174 | null | Cyp26b1 | null | 28,111,553 | Robust expression of RA-degrading enzymes Cyp26b1 and Cyp26c1 in developing murine teeth suggested RA excess would reduce tooth hard tissue mineralization, adversely affecting enamel. | null | null | null |
null | null | Negative | MESH:D064726 | null | null | triple-negative breast cancer | 5861 | null | RAB1A | null | 28,184,936 | In this investigation, RAB1A siRNA was successfully transfected in MDA-MB-231 and BT-549 human triple-negative breast cancer cells, and verified by real -time quantitative polymerase chain reaction and western blotting. | null | null | null |
null | null | Negative | MESH:D003643 | null | null | death | 24835 | null | TNF-a | null | 28,052,015 | We found that 14,15-EET protected rat nucleus pulposus (NP) cells against death induced by treatment with H2O2and TNF-a in vitro. | null | null | null |
null | null | Negative | MESH:D007938 | null | null | leukemias | 22778 | null | Ikaros | null | 28,190,000 | Notably, leukemias driven by combined BCR-ABL1 expression and Ikaros suppression rapidly regress when endogenous Ikaros is restored, causing sustained disease remission or ablation. | null | null | null |
null | null | Negative | MESH:D006073 | null | null | gout | 71481 | null | alpha kinase 1 | null | 28,039,413 | Three alpha kinase 1 ( ALPK1 ) and SLC22A12 loci associated with high gout risk and uric acid levels were genotyped. | null | null | null |
3 | 0 | Biomarker | C1832200 | Peroxisome biogenesis disorders | group | peroxisome biogenesis disorders | 5194 | PEX13 | PEX13 | CTD_human | 10,332,040 | Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders. | 0.200824 | Nonsense and temperature-sensitive mutations in <span class="gene" id="10332040-0-48-53">PEX13</span> are the cause of complementation group H of <span class="disease" id="10332040-0-98-129">peroxisome biogenesis disorders</span>. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 56338 | null | TXNIP | null | 28,029,659 | Gene microarray analysis was performed and tumor suppressor gene TXNIP was found to be significantly increased in RNF2 knockdown cells. | null | null | null |
8 | 9 | Biomarker | C0265306 | Greig cephalopolysyndactyly syndrome | disease | GCPS | 2737 | GLI3 | GLI3 | CTD_human | 14,608,643 | We conclude that patients with GCPS caused by large deletions that include GLI3 are likely to have cognitive deficits, and we hypothesize that this severe GCPS phenotype is caused by deletion of contiguous genes. | 0.687418 | We conclude that patients with <span class="disease" id="14608643-10-31-35">GCPS</span> caused by large deletions that include <span class="gene" id="14608643-10-75-79">GLI3</span> are likely to have cognitive deficits, and we hypothesize that this severe <span class="disease" id="14608643-10-155-159">GCPS</span> phenotype is caused by deletion of contiguous genes. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:C536589 | null | null | AS | 112939 | null | Nacc1 | null | 28,157,508 | Further analyses of the zinc finger protein Zfp871 and BTB/POZ domain transcription factor Nacc1, which regulate neural and stem cell AS programs, respectively, reveal roles in controlling the expression of specific splicing regulators. | null | null | null |
2 | 0 | Biomarker | C0035455 | Rhinitis | disease | rhinitis | 7432 | VIP | VIP | CTD_human | 14,680,090 | In comparison to the control, the aspirin-sensitive rhinitis group had a significant increase of VIP-like immunoreactivity in mucosal nerve fibres. | 0.2 | In comparison to the control, the aspirin-sensitive <span class="disease" id="14680090-5-52-60">rhinitis</span> group had a significant increase of <span class="gene" id="14680090-5-97-100">VIP</span>-like immunoreactivity in mucosal nerve fibres. | CTD_human |
null | null | Negative | MESH:D009410 | null | null | axonal degeneration | 398223 | null | APP | null | 28,008,944 | UNASSIGNED: Amyloid precursor protein (APP), commonly associated with Alzheimer's disease, also marks axonal degeneration. | null | null | null |
null | null | Negative | MESH:D000377 | null | null | time-to-progression | 11047 | null | Arm 1 | null | 28,045,335 | RESULTS: Median time-to-progression (TTP) in Arm 1 was 7.9 months versus 9.2 in Arm 2. | null | null | null |
null | null | Negative | MESH:D057772 | null | null | vascular injury | 723814 | null | miR-223 | null | 28,196,816 | The increased miR-223 in ECs could work as a novel endocrine genetic signal and participate in vascular injury of KD. | null | null | null |
1 | 0 | Biomarker | C0018798 | Congenital Heart Defects | group | congenital heart defects | 4524 | MTHFR | MTHFR | CTD_human | 16,524,890 | Maternal MTHFR 677C>T is a risk factor for congenital heart defects: effect modification by periconceptional folate supplementation. | 0.247773 | Maternal <span class="gene" id="16524890-0-9-14">MTHFR</span> 677C>T is a risk factor for <span class="disease" id="16524890-0-43-67">congenital heart defects</span>: effect modification by periconceptional folate supplementation. | CTD_human |
null | null | Negative | MESH:C536528 | null | null | LPS | 17709 | null | COX-2 | null | 28,152,476 | They also increased COX-2, 5-LOX, and iNOS concentration in macrophages, which was comparable to that of LPS stimulated macrophages. | null | null | null |
2 | 0 | Biomarker | C0013295 | Duodenal Ulcer | disease | duodenal ulcers | 4843 | NOS2 | NOS | CTD_human | 12,481,160 | We investigated the effects of COX and NOS inhibitors on the healing of duodenal ulcers, in comparison with gastric ulcers, in rats. | 0.2 | We investigated the effects of COX and <span class="gene" id="12481160-2-39-42">NOS</span> inhibitors on the healing of <span class="disease" id="12481160-2-72-87">duodenal ulcers</span>, in comparison with gastric ulcers, in rats. | CTD_human |
null | null | Negative | MESH:D000544 | null | null | Alzheimer's disease | 19164 | null | PS1 | null | 28,132,667 | However, the functional outcome of PS1 phosphorylation and its significance for Alzheimer's disease (AD) pathogenesis is poorly understood. | null | null | null |
69 | 0 | Therapeutic | C0020538 | Hypertensive disease | group | hypertension | 183 | AGT | angiotensin II | CTD_human | 1,860,718 | Furthermore, acute hypertension induced by angiotensin II or phenylephrine did not affect the plasma irET-1 concentration in rats. | 0.52 | Furthermore, acute <span class="disease" id="1860718-9-19-31">hypertension</span> induced by <span class="gene" id="1860718-9-43-57">angiotensin II</span> or phenylephrine did not affect the plasma irET-1 concentration in rats. | CTD_human |
null | null | Negative | MESH:D011475 | null | null | OS | 3480 | null | IGF-1R | null | 28,022,168 | An OS benefit was gained with H+XP/FP regardless of IGF-1R levels or cutoffs applied. | null | null | null |
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