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null | null | Negative | MESH:D010003 | null | null | OA | 60628 | null | SDF-1 receptor | null | 28,131,784 | The OA rats received continuous infusion of AMD3100 (SDF-1 receptor blocker) in osmotic mini-pump implanted subcutaneously for 6 weeks. | null | null | null |
6 | 0 | Biomarker | C0017665 | Membranous glomerulonephritis | disease | membranous nephropathy | 213 | ALB | serum albumin | CTD_human | 15,385,633 | Mouse model of membranous nephropathy induced by cationic bovine serum albumin: antigen dose-response relations and strain differences. | 0.201648 | Mouse model of <span class="disease" id="15385633-0-15-37">membranous nephropathy</span> induced by cationic bovine <span class="gene" id="15385633-0-65-78">serum albumin</span>: antigen dose-response relations and strain differences. | CTD_human |
null | null | Negative | MESH:D052256 | null | null | tendinopathy | 4312;4314 | null | MMP-1 and -3 | null | 28,091,588 | HMW-HA attenuated tendinopathy by downregulating MMP-1 and -3 expression. | null | null | null |
64 | 0 | Biomarker | C0002871 | Anemia | disease | anemia | 2056 | EPO | Erythropoietin | CTD_human | 15,160,343 | Erythropoietin is effective in improving the anemia induced by imatinib mesylate therapy in patients with chronic myeloid leukemia in chronic phase. | 0.24092 | <span class="gene" id="15160343-0-0-14">Erythropoietin</span> is effective in improving the <span class="disease" id="15160343-0-45-51">anemia</span> induced by imatinib mesylate therapy in patients with chronic myeloid leukemia in chronic phase. | CTD_human |
null | null | Negative | OMIM:135300 | null | null | HGF | 6401 | null | E-Selectin | null | 28,023,369 | Plasma CAF analyses from phase II and III studies previously identified candidates (HGF, IL-6, IL-8, TIMP-1, VEGF, E-Selectin and OPN) that significantly correlated with PFS for patients receiving pazopanib (ASCO 2010, #4522). | null | null | null |
3 | 3 | Biomarker | C0033860 | Psoriasis | disease | psoriasis | 10758 | TRAF3IP2 | TRAF3IP2 | CTD_human | 20,953,186 | Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. | 0.207561 | Common variants at <span class="gene" id="20953186-0-19-27">TRAF3IP2</span> are associated with susceptibility to psoriatic arthritis and <span class="disease" id="20953186-0-90-99">psoriasis</span>. | CTD_human |
13 | 0 | Biomarker | C0028754 | Obesity | disease | Obese | 3952 | LEP | leptin | CTD_human | 23,839,791 | Obese leptin deficient (ob/ob) mice are a model of adiposity that displays increased levels of fat, glucose, and liver lipids. | 0.72 | <span class="disease" id="23839791-1-0-5">Obese</span> <span class="gene" id="23839791-1-6-12">leptin</span> deficient (ob/ob) mice are a model of adiposity that displays increased levels of fat, glucose, and liver lipids. | CTD_human;HPO |
35 | 277 | Biomarker | C0035372 | Rett Syndrome | disease | Rett syndrome | 4204 | MECP2 | MeCP2 | CTD_human | 22,532,851 | Alterations of gene expression and glutamate clearance in astrocytes derived from an MeCP2-null mouse model of Rett syndrome. | 0.92 | Alterations of gene expression and glutamate clearance in astrocytes derived from an <span class="gene" id="22532851-0-85-90">MeCP2</span>-null mouse model of <span class="disease" id="22532851-0-111-124">Rett syndrome</span>. | CTD_human;ORPHANET;UNIPROT |
40 | 0 | Biomarker | C1458155 | Mammary Neoplasms | group | breast tumors | 2064 | ERBB2 | ERBB2 | CTD_human | 19,075,277 | mRNA levels of 10 BCAR genes (AKT1, AKT2, BCAR1, BCAR3, EGFR, ERBB2, GRB7, SRC, TLE3, and TRERF1) were measured in estrogen receptor-positive breast tumors using quantitative reverse-transcriptase polymerase chain reaction. | 0.369628 | mRNA levels of 10 BCAR genes (AKT1, AKT2, BCAR1, BCAR3, EGFR, <span class="gene" id="19075277-3-62-67">ERBB2</span>, GRB7, SRC, TLE3, and TRERF1) were measured in estrogen receptor-positive <span class="disease" id="19075277-3-142-155">breast tumors</span> using quantitative reverse-transcriptase polymerase chain reaction. | CTD_human |
1 | 0 | Biomarker | C0014175 | Endometriosis | disease | endometriosis | 231 | AKR1B1 | AKR1B1 | CTD_human | 25,446,850 | These cell models characterized in this study will enable further investigations into the role of PGF2? in the pathophysiology of endometriosis and the involvement of AKR1B1 and AKR1C3. | 0.200275 | These cell models characterized in this study will enable further investigations into the role of PGF2α in the pathophysiology of <span class="disease" id="25446850-12-130-143">endometriosis</span> and the involvement of <span class="gene" id="25446850-12-167-173">AKR1B1</span> and AKR1C3. | CTD_human |
null | null | Negative | MESH:D009362 | null | null | metastasis | 12505 | null | CD44 | null | 28,098,914 | miR-647 also reduced the expression levels of genes associated with proliferation and metastasis in tumors, including ANK2, FAK, MMP2, MMP12, CD44 and SNAIL1. | null | null | null |
null | null | Negative | MESH:D017827 | null | null | wild-type | 3934 | null | LCN2 | null | 28,070,126 | At a time corresponding to peak LCN2 induction in wild-type (WT) mice injected with LPS, Lcn2-/- mice challenged with LPS had exacerbated levels of pro-inflammatory cytokines and exhibited significantly worsened behavioral phenotypes. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | cancer | 18746 | null | PK subtype M2 | null | 28,021,856 | PK subtype M2 (PKM2), which is over expressed in cancer cells, facilitates the Warburg effect by switching from a highly active tetrameric form to low activity monomeric or dimeric forms. | null | null | null |
8 | 0 | Biomarker | C0043049 | Water Intoxication | disease | Water intoxication | 5020 | OXT | oxytocin | CTD_human | 803,783 | Water intoxication associated with oxytocin administration during saline-induced abortion. | 0.2 | <span class="disease" id="803783-0-0-18">Water intoxication</span> associated with <span class="gene" id="803783-0-35-43">oxytocin</span> administration during saline-induced abortion. | CTD_human |
null | null | Negative | MESH:D030342 | null | null | recessive disorder | 7840 | null | ALMS1 | null | 28,112,973 | BACKGROUND: Alstr m syndrome is a multi-system recessive disorder caused by mutations in ALMS1 gene. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | cancer | 644914 | null | p21 | null | 28,052,040 | Furthermore, AICAR treatment increased RORa recruitment on the promoters of tumor suppressor genes (i.e., FBXM7, SEMA3F and p21) leading to apoptosis in human gastric cancer cells. | null | null | null |
null | null | Negative | MESH:D013274 | null | null | GC | 11487 | null | ADAM10 | null | 28,160,627 | Among candidate proteases associated with the generation of sIL-11R, ADAM10 and the related metalloprotease ADAM17 were significantly upregulated in tumours of both gp130(F/F) mice and GC patients compared to matched non-tumour tissues. | null | null | null |
null | null | Negative | MESH:D011475 | null | null | OS | 6863 | null | neurokinin A | null | 28,022,660 | Demographic, serial pre- and post-Rx (1,6,12,18 mos) Karnofsky performance status (KPS), biochemical (5-HIAA, chromogranin A, pancreastatin, neurokinin A [NKA]) and radiographic response data were collected and OS, PFS and BR calculated. | null | null | null |
null | null | Negative | MESH:D006453 | null | null | hemoglobinopathies | 53335 | null | BCL11A | null | 28,053,695 | In this study we analyzed BCL11A, GATA-1, KLF-1 genes and y-globin promoter in 60 alleles from 30 hemoglobinopathies patients under HU treatment to assess the role of these markers in HU response. | null | null | null |
null | null | Negative | MESH:D016411 | null | null | peripheral T-cell lymphoma | 397603 | null | isocitrate dehydrogenase 2 | null | 28,157,189 | UNASSIGNED: Recent genetic analysis has identified frequent mutations in ten-eleven translocation 2 (TET2), DNA methyltransferase 3A (DNMT3A), isocitrate dehydrogenase 2 (IDH2) and ras homolog family member A (RHOA) in nodal T-cell lymphomas, including angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified. | null | null | null |
null | null | Negative | MESH:D030342 | null | null | inherited lysosomal storage disorder | 3783 | null | KCa3.1 | null | 28,197,106 | Recent studies suggest modulation of KCa3.1 by omega-3 fatty acids as negative modulators and impaired KCa3.1 functions in the inherited lysosomal storage disorder (LSD), Fabry disease (FD). | null | null | null |
null | null | Negative | MESH:C535607 | null | null | AGS | 7415 | null | VCP | null | 28,032,027 | Knock-down of VCP by siRNA enhanced sensitivity to TRAIL in AGS cells. | null | null | null |
null | null | Negative | MESH:D007787 | null | null | hypolactasia | 3938 | null | lactase | null | 28,156,353 | Objectives The frequency of adult-type hypolactasia (lactase non-persistence) varies widely among different ethnic groups. | null | null | null |
null | null | Negative | MESH:D003920 | null | null | diabetic | 22340 | null | VEGF-B | null | 28,091,556 | However, the contribution and mechanism of VEGF-B in diabetic peripheral neuropathy remains unclear. | null | null | null |
2 | 0 | Biomarker | C0524620 | Metabolic Syndrome X | disease | metabolic syndrome | 79661 | NEIL1 | NEIL1 | CTD_human | 16,446,448 | The metabolic syndrome resulting from a knockout of the NEIL1 DNA glycosylase. | 0.200275 | The <span class="disease" id="16446448-0-4-22">metabolic syndrome</span> resulting from a knockout of the <span class="gene" id="16446448-0-56-61">NEIL1</span> DNA glycosylase. | CTD_human |
null | null | Negative | MESH:D014923 | null | null | WAS | 19241 | null | thymosin beta 4, X-linked | null | 28,159,933 | An analysis of the underlying mechanism revealed that the simultaneous inhibition of tumor growth and metastasis mediated by miR-1 was due to the synchronous targeting of 6 miR-1 target genes encoding cyclin dependent kinase 4, twinfilin actin binding protein 1, calponin 3, coronin 1C, WAS protein family member 2 and thymosin beta 4, X-linked. | null | null | null |
1 | 0 | Biomarker | C0002395 | Alzheimer's Disease | disease | AD | 23621 | BACE1 | BACE1 | CTD_human | 16,407,166 | Our data strongly support a major role of PPARgamma in the modulation of amyloid-beta generation by inflammation and suggest that the protective mechanism of NSAIDs in AD involves activation of PPARgamma and decreased BACE1 gene transcription. | 0.364253 | Our data strongly support a major role of PPARgamma in the modulation of amyloid-beta generation by inflammation and suggest that the protective mechanism of NSAIDs in <span class="disease" id="16407166-11-168-170">AD</span> involves activation of PPARgamma and decreased <span class="gene" id="16407166-11-218-223">BACE1</span> gene transcription. | CTD_human |
2 | 0 | Biomarker | C0007194 | Hypertrophic Cardiomyopathy | disease | hypertrophic cardiomyopathy | 5894 | RAF1 | RAF1 | CTD_human | 17,603,483 | Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. | 0.405755 | Gain-of-function <span class="gene" id="17603483-0-17-21">RAF1</span> mutations cause Noonan and LEOPARD syndromes with <span class="disease" id="17603483-0-72-99">hypertrophic cardiomyopathy</span>. | CTD_human;HPO |
null | null | Negative | MESH:D009422 | null | null | Neuropathy target esterase | 50767 | null | PNPLA6 | null | 28,206,686 | Neuropathy target esterase (NTE) or patatin-like phospholipase domain containing 6 (PNPLA6) was first linked with a neuropathy occurring after organophosphate poisoning and was later also found to cause complex syndromes when mutated, which can include mental retardation, spastic paraplegia, ataxia, and blindness. | null | null | null |
null | null | Negative | MESH:D008380 | null | null | Marek's disease | 406947 | null | miR-155 | null | 28,113,043 | We also showed that v-rel could rescue the suppression of miR-155 expression observed in Marek's disease virus (MDV)-transformed cell lines, where its functional viral homologue MDV-miR-M4 is overexpressed. | null | null | null |
null | null | Negative | MESH:D013167 | null | null | AS | 4772 | null | NFATc1 | null | 28,191,455 | However, we observed low expression of CSF1R, RANK, and NFATc1 in AS OCPs. | null | null | null |
null | null | Negative | MESH:C531844 | null | null | glycoprotein-Ib/IX-von Willebrand factor axis | 11093 | null | ADAMTS13 | null | 28,110,841 | Promising agents under evaluation include N-acetylcysteine, bortezomib, recombinant ADAMTS13 and caplacizumab, an inhibitor of the glycoprotein-Ib/IX-von Willebrand factor axis. | null | null | null |
1 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | hepatocellular carcinoma | 8660 | IRS2 | insulin receptor substrate-2 | CTD_human | 16,127,164 | Overexpression of insulin receptor substrate-2 in human and murine hepatocellular carcinoma. | 0.200824 | Overexpression of <span class="gene" id="16127164-0-18-46">insulin receptor substrate-2</span> in human and murine <span class="disease" id="16127164-0-67-91">hepatocellular carcinoma</span>. | CTD_human |
4 | 1 | Therapeutic | C0004153 | Atherosclerosis | disease | atherosclerosis | 3949 | LDLR | LDLR | CTD_human | 11,947,894 | Male LDLR-KO mice fed a high cholesterol (HC; 1%) diet developed atherosclerosis at 8 months of age with hypercholesterolemia. | 0.261876 | Male <span class="gene" id="11947894-3-5-9">LDLR</span>-KO mice fed a high cholesterol (HC; 1%) diet developed <span class="disease" id="11947894-3-65-80">atherosclerosis</span> at 8 months of age with hypercholesterolemia. | CTD_human |
null | null | Negative | MESH:D000592 | null | null | AA | 100037690 | null | PCK1 | null | 28,179,229 | In liver, AA infusion tended to increase PCK1 gluconeogenic gene and PCK1 correlated with plasma cortisol concentrations. | null | null | null |
2 | 0 | Biomarker | C0027051 | Myocardial Infarction | disease | myocardial infarction | 2730 | GCLM | glutamate-cysteine ligase modifier subunit | CTD_human | 12,081,989 | Polymorphism in the 5'-flanking region of human glutamate-cysteine ligase modifier subunit gene is associated with myocardial infarction. | 0.208096 | Polymorphism in the 5'-flanking region of human <span class="gene" id="12081989-0-48-90">glutamate-cysteine ligase modifier subunit</span> gene is associated with <span class="disease" id="12081989-0-115-136">myocardial infarction</span>. | CTD_human |
null | null | Negative | MESH:D030342 | null | null | autosomal recessive disorder | 2548 | null | glycogen-hydrolyzing enzyme acid a-glucosidase | null | 28,185,884 | BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal glycogen-hydrolyzing enzyme acid a-glucosidase (GAA). | null | null | null |
25 | 0 | Biomarker | C0004153 | Atherosclerosis | disease | atherosclerosis | 348 | APOE | apolipoprotein E | CTD_human | 21,908,651 | Now, we tested the hypothesis that activation of TRPV1 channels attenuates atherosclerosis in apolipoprotein E knockout mice (ApoE(-/-)) but not ApoE(-/-)TRPV1(-/-) double knockout mice on a high-fat diet. | 0.587329 | Now, we tested the hypothesis that activation of TRPV1 channels attenuates <span class="disease" id="21908651-2-75-90">atherosclerosis</span> in <span class="gene" id="21908651-2-94-110">apolipoprotein E</span> knockout mice (ApoE(-/-)) but not ApoE(-/-)TRPV1(-/-) double knockout mice on a high-fat diet. | CTD_human;HPO |
68 | 0 | Biomarker | C0020538 | Hypertensive disease | group | arterial hypertension | 5443 | POMC | ACTH | CTD_human | 6,088,243 | Based on the various biological effects of ACTH different explanations are proposed: oedema or deposition of glycogen in the myocardial tissue, hyperinsulinism, arterial hypertension and increased inotropic stimulus. | 0.203846 | Based on the various biological effects of <span class="gene" id="6088243-8-43-47">ACTH</span> different explanations are proposed: oedema or deposition of glycogen in the myocardial tissue, hyperinsulinism, <span class="disease" id="6088243-8-161-182">arterial hypertension</span> and increased inotropic stimulus. | CTD_human |
null | null | Negative | MESH:D030342 | null | null | several inherited disorders | 5728 | null | PTEN | null | 28,021,411 | Moreover glioblastoma can be related with several inherited disorders that also predispose towards breast cancer, including Li-Fraumeni (p53 mutation) and Cowden (PTEN mutation) syndromes. | null | null | null |
1 | 0 | Biomarker | C0004096 | Asthma | disease | asthmatic | 3557 | IL1RN | IL-1 ra | CTD_human | 9,176,529 | Effect of inhaled glucocorticoids on IL-1 beta and IL-1 receptor antagonist (IL-1 ra) expression in asthmatic bronchial epithelium. | 0.234914 | Effect of inhaled glucocorticoids on IL-1 beta and IL-1 receptor antagonist (<span class="gene" id="9176529-0-77-84">IL-1 ra</span>) expression in <span class="disease" id="9176529-0-100-109">asthmatic</span> bronchial epithelium. | CTD_human |
24 | 0 | Biomarker | C0002736 | Amyotrophic Lateral Sclerosis | disease | ALS | 6647 | SOD1 | superoxide dismutase 1 | CTD_human | 23,583,883 | The aim of the work was (1) investigating on gender-dependence of disease progression in the standard model for ALS - the transgenic mouse bearing superoxide dismutase 1 gene mutations - and (2) assessing if a P2X7 receptor antagonist treatment should take into account sexual dimorphism. | 0.798512 | The aim of the work was (1) investigating on gender-dependence of disease progression in the standard model for <span class="disease" id="23583883-6-112-115">ALS</span> - the transgenic mouse bearing <span class="gene" id="23583883-6-147-169">superoxide dismutase 1</span> gene mutations - and (2) assessing if a P2X7 receptor antagonist treatment should take into account sexual dimorphism. | CTD_human;HPO;ORPHANET |
1 | 0 | Biomarker | C0036572 | Seizures | phenotype | seizure | 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 anxiety-like behavior, thermoregulation and <span class="disease" id="19815072-4-219-226">seizure</span> sensitivity. | CTD_human |
1 | 0 | Biomarker | C0035334 | Retinitis Pigmentosa | disease | retinitis pigmentosa | 57096 | RPGRIP1 | RPGRIP1 | CTD_human | 16,272,259 | Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa. | 0.404931 | Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and <span class="gene" id="16272259-0-67-74">RPGRIP1</span> genes in patients with juvenile <span class="disease" id="16272259-0-107-127">retinitis pigmentosa</span>. | CTD_human;ORPHANET |
null | null | Negative | MESH:D006528 | null | null | hepatocellular carcinoma | 14734 | null | GPC3 | null | 28,035,433 | Recently, we reported that GPC3-targeted CAR-T cells could eradicate hepatocellular carcinoma (HCC) xenografts in mice. | null | null | null |
null | null | Negative | MESH:D000013 | null | null | right defects | 100009224 | null | ABP | null | 28,095,112 | In group ABP, left defects were simply implanted with autogenous bone particles; meanwhile, group ABP-Ti animals had right defects implanted with autogenous bone particle/titanium fiber composites. | null | null | null |
1 | 0 | Biomarker | C0027126 | Myotonic Dystrophy | disease | myotonic muscular dystrophy | 1482 | NKX2-5 | NKX2-5 | CTD_human | 18,084,293 | RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression. | 0.200275 | RNA toxicity in <span class="disease" id="18084293-0-16-43">myotonic muscular dystrophy</span> induces <span class="gene" id="18084293-0-52-58">NKX2-5</span> expression. | CTD_human |
null | null | Negative | MESH:D010146 | null | null | pain | 16176 | null | IL-1b | 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:D009369 | null | null | tumor | 24498 | null | IL-6 | null | 28,005,706 | Treatment of CKD+Ca/P/VitD rats with atrasentan reduced vascular calcification, SBP, PP and PWV, macrophage infiltration and expression of IL-1b, IL-6, tumor necrosis factor, calgranulins and osteoblastic markers. | null | null | null |
null | null | Negative | MESH:D005671 | null | null | double hexamer | 81620 | null | Cdt1 | null | 28,191,894 | During G1 phase, two Cdt1-Mcm2-7 heptamers are loaded onto each replication origin by the origin-recognition complex (ORC) and Cdc6 to form an inactive MCM double hexamer (DH), but the detailed loading mechanism remains unclear. | null | null | null |
1 | 0 | Biomarker | C0006845 | Candidiasis, Chronic Mucocutaneous | disease | chronic mucocutaneous candidiasis | 6772 | STAT1 | STAT1 | CTD_human | 21,714,643 | STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. | 0.40522 | <span class="gene" id="21714643-0-0-5">STAT1</span> mutations in autosomal dominant <span class="disease" id="21714643-0-38-71">chronic mucocutaneous candidiasis</span>. | CTD_human;HPO |
6 | 7 | Biomarker | C0221036 | Acrodermatitis enteropathica | disease | acrodermatitis enteropathica | 55630 | SLC39A4 | SLC39A4 | CTD_human | 12,068,297 | Identification of SLC39A4, a gene involved in acrodermatitis enteropathica. | 0.684396 | Identification of <span class="gene" id="12068297-0-18-25">SLC39A4</span>, a gene involved in <span class="disease" id="12068297-0-46-74">acrodermatitis enteropathica</span>. | CTD_human;ORPHANET;UNIPROT |
3 | 0 | Biomarker | C0079541 | Holoprosencephaly | disease | holoprosencephaly | 6469 | SHH | sonic hedgehog | CTD_human | 17,525,797 | Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog. | 0.433105 | Gas1 is a modifier for <span class="disease" id="17525797-0-23-40">holoprosencephaly</span> and genetically interacts with <span class="gene" id="17525797-0-72-86">sonic hedgehog</span>. | CTD_human;HPO |
null | null | Negative | MESH:D000699 | null | null | analgesia | 8600 | null | RANKL | null | 28,044,198 | By inhibiting prostaglandin synthesis, meloxicam seems to downregulate hPDL-mediated inflammation, RANKL-induced osteoclastogenesis and, consequently, tooth movement velocity by about 50%, thus limiting its suitability for analgesia during orthodontic therapy. | null | null | null |
null | null | Negative | MESH:D019305 | null | null | Centrotemporal Spikes | 100379198 | null | BECTS | null | 28,209,266 | Children with Benign Epilepsy with Centrotemporal Spikes (BECTS), despite high likelihood for seizure remission, are reported to have subtle difficulties in language and other cognitive skills. | null | null | null |
1 | 0 | Therapeutic | C0020538 | Hypertensive disease | group | hypertension | 3816 | KLK1 | tissue kallikrein | CTD_human | 14,568,997 | Gene therapy with human tissue kallikrein reduces hypertension and hyperinsulinemia in fructose-induced hypertensive rats. | 0.226487 | Gene therapy with human <span class="gene" id="14568997-0-24-41">tissue kallikrein</span> reduces <span class="disease" id="14568997-0-50-62">hypertension</span> and hyperinsulinemia in fructose-induced hypertensive rats. | CTD_human |
null | null | Negative | MESH:D017827 | null | null | type | 27344 | null | pen | null | 28,072,690 | UNASSIGNED: This study is conducted to investigate efficacy of an insulin jet injector and an insulin pen in treatment of type 2 diabetic patients. | null | null | null |
3 | 0 | Biomarker | C0342731 | Deficiency of mevalonate kinase | disease | HIDS | 4598 | MVK | MVK | CTD_human | 10,369,261 | Subsequent analysis of cells from four unrelated HIDS patients revealed reduced activities of mevalonate kinase (MK; encoded by the gene MVK), a key enzyme of isoprenoid biosynthesis. | 0.413121 | Subsequent analysis of cells from four unrelated <span class="disease" id="10369261-4-49-53">HIDS</span> patients revealed reduced activities of <span class="gene" id="10369261-4-94-111">mevalonate kinase</span> (MK; encoded by the gene <span class="gene" id="10369261-4-137-140">MVK</span>), a key enzyme of isoprenoid biosynthesis. | CTD_human;ORPHANET |
2 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | hepatocellular carcinoma | 2305 | FOXM1 | FoxM1 | CTD_human | 17,173,139 | A cell-penetrating ARF peptide inhibitor of FoxM1 in mouse hepatocellular carcinoma treatment. | 0.286593 | A cell-penetrating ARF peptide inhibitor of <span class="gene" id="17173139-0-44-49">FoxM1</span> in mouse <span class="disease" id="17173139-0-59-83">hepatocellular carcinoma</span> treatment. | CTD_human |
2 | 0 | Biomarker | C0019189 | Hepatitis, Chronic | disease | chronic hepatitis | 150684 | COMMD1 | COMMD1 | CTD_human | 22,879,914 | COMMD1-deficient dogs accumulate copper in hepatocytes and provide a good model for chronic hepatitis and fibrosis. | 0.200549 | <span class="gene" id="22879914-0-0-6">COMMD1</span>-deficient dogs accumulate copper in hepatocytes and provide a good model for <span class="disease" id="22879914-0-84-101">chronic hepatitis</span> and fibrosis. | CTD_human |
null | null | Negative | MESH:D013224 | null | null | asthmatic | 3662 | null | IRF4 | null | 28,105,134 | mRNA expression levels of IL-9, STAT6, and IRF4 in PBMCs from healthy controls and asthmatic patients were detected by reverse transcription-quantitative polymerase chain reaction. | null | null | null |
null | null | Negative | MESH:D010282 | null | null | PG | 14182;14183;14184 | null | Fgfr1-3 | null | 28,094,278 | Here, we examined the effects of Fgfr1-3, aKlotho, or Fgfr1-4 ablation specifically in the PG (conditional knockout, cKO). | null | null | null |
2 | 0 | Biomarker | C0038220 | Status Epilepticus | disease | status epilepticus | 4803 | NGF | NGF | CTD_human | 8,821,376 | Cellular hybridization for BDNF, trkB, and NGF mRNAs and BDNF-immunoreactivity in rat forebrain after pilocarpine-induced status epilepticus. | 0.2 | Cellular hybridization for BDNF, trkB, and <span class="gene" id="8821376-0-43-46">NGF</span> mRNAs and BDNF-immunoreactivity in rat forebrain after pilocarpine-induced <span class="disease" id="8821376-0-122-140">status epilepticus</span>. | CTD_human |
null | null | Negative | MESH:D014842 | null | null | von Willebrand | 7450 | null | VWF | null | 28,135,035 | Methods Immunohistochemistry in serial sections along the longitudinal axis of endarterectomies from patients with symptomatic carotid stenosis (n = 19) were studied using an antibody specific for free PAI-1 (I205), an antibody with high affinity for TAFI/TAFIa (CP17) and established antibodies for smooth muscle cells (a-actin), endothelial cells (von Willebrand factor [VWF]), macrophages (CD68) and platelets (CD42). | null | null | null |
4 | 0 | Biomarker | C0018801 | Heart failure | disease | heart failure | 7124 | TNF | TNF-alpha | CTD_human | 17,337,591 | Tumor necrosis factor-alpha (TNF-alpha) is a proinflammatory cytokine that has been implicated in the pathogenesis of heart failure. | 0.303871 | <span class="gene" id="17337591-1-0-27">Tumor necrosis factor-alpha</span> (<span class="gene" id="17337591-1-29-38">TNF-alpha</span>) is a proinflammatory cytokine that has been implicated in the pathogenesis of <span class="disease" id="17337591-1-118-131">heart failure</span>. | CTD_human |
1 | 0 | Biomarker | C0031511 | Pheochromocytoma | disease | PHEO | 1621 | DBH | dopamine ?-hydroxylase | CTD_human | 22,569,243 | At both the protein and mRNA levels, MAOA and COMT are detected less often in PHEO compared with adrenal medulla, conversely to tyrosine hydroxylase, L-amino acid decarboxylase, and dopamine ?-hydroxylase, much more expressed in tumor tissue. | 0.200824 | At both the protein and mRNA levels, MAOA and COMT are detected less often in <span class="disease" id="22569243-9-78-82">PHEO</span> compared with adrenal medulla, conversely to tyrosine hydroxylase, L-amino acid decarboxylase, and <span class="gene" id="22569243-9-182-204">dopamine β-hydroxylase</span>, much more expressed in tumor tissue. | CTD_human |
1 | 0 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | non-small cell lung cancer | 356 | FASLG | FasL | CTD_human | 21,807,637 | A polymorphic -844T/C in FasL promoter predicts survival and relapse in non-small cell lung cancer. | 0.201099 | A polymorphic -844T/C in <span class="gene" id="21807637-0-25-29">FasL</span> promoter predicts survival and relapse in <span class="disease" id="21807637-0-72-98">non-small cell lung cancer</span>. | CTD_human |
2 | 0 | Biomarker | C0020295 | Hydronephrosis | disease | hydronephrosis | 9536 | PTGES | microsomal prostaglandin E synthase-1 | CTD_human | 22,430,074 | Critical role of microsomal prostaglandin E synthase-1 in the hydronephrosis caused by lactational exposure to dioxin in mice. | 0.2 | Critical role of <span class="gene" id="22430074-0-17-54">microsomal prostaglandin E synthase-1</span> in the <span class="disease" id="22430074-0-62-76">hydronephrosis</span> caused by lactational exposure to dioxin in mice. | CTD_human |
1 | 0 | Biomarker | C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | disease | T-cell acute lymphoblastic leukemia | 84295 | PHF6 | PHF6 | CTD_human | 20,228,800 | PHF6 mutations in T-cell acute lymphoblastic leukemia. | 0.201923 | <span class="gene" id="20228800-0-0-4">PHF6</span> mutations in <span class="disease" id="20228800-0-18-53">T-cell acute lymphoblastic leukemia</span>. | CTD_human |
1 | 0 | Biomarker | C0007760 | Cerebellar Diseases | group | cerebellar dysfunction | 4842 | NOS1 | nNOS | CTD_human | 25,511,929 | Thus, homozygous mutation of the nNOS gene increases vulnerability to alcohol-induced cerebellar dysfunction and neuronal loss. nNOS is the first gene identified whose mutation worsens alcohol-induced cerebellar behavioral deficits. | 0.2 | Thus, homozygous mutation of the <span class="gene" id="25511929-13-33-37">nNOS</span> gene increases vulnerability to alcohol-induced <span class="disease" id="25511929-13-86-108">cerebellar dysfunction</span> and neuronal loss. nNOS is the first gene identified whose mutation worsens alcohol-induced cerebellar behavioral deficits. | CTD_human |
null | null | Negative | MESH:D008107 | null | null | liver damage | 116637 | null | CCl4 | null | 28,064,552 | OBJECTIVE: The present study investigated the hepatoprotective effect and underlying mechanisms of b-aescin in CCl4-induced liver damage. | null | null | null |
null | null | Negative | MESH:D000860 | null | null | hypoxia | 100302167 | null | hsa-mir-1299 | null | 28,074,387 | RESULTS: We found that six genes were differentially methylated in the test samples, of which four were linked to ischaemia or hypoxia (REXO1L1, TLR4, hsa-mir-1299, ANKRD2). | null | null | null |
1 | 0 | Biomarker | C0007134 | Renal Cell Carcinoma | disease | renal cell carcinoma | 1381 | CRABP1 | Cellular retinoic acid binding protein I | CTD_human | 16,254,461 | Cellular retinoic acid binding protein I: expression and functional influence in renal cell carcinoma. | 0.203008 | <span class="gene" id="16254461-0-0-40">Cellular retinoic acid binding protein I</span>: expression and functional influence in <span class="disease" id="16254461-0-81-101">renal cell carcinoma</span>. | CTD_human |
3 | 1 | Biomarker | C0009952 | Febrile Convulsions | disease | febrile seizures | 6323 | SCN1A | SCN1A | CTD_human | 25,362,483 | Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2) have been identified that cause febrile seizures with or without epilepsy. | 0.436791 | Recurrent mutations in three main genes (<span class="gene" id="25362483-2-41-46">SCN1A</span>, SCN1B and GABRG2) have been identified that cause <span class="disease" id="25362483-2-98-114">febrile seizures</span> with or without epilepsy. | CTD_human;HPO |
2 | 0 | Biomarker | C1956346 | Coronary Artery Disease | disease | CAD | 7422 | VEGFA | VEGF165 | CTD_human | 14,668,888 | Direct myocardial administration of genes encoding VEGF165 can be an effective method of treatment in patients with chronic and advanced CAD either as a supplementary treatment or as a single therapy. | 0.23201 | Direct myocardial administration of genes encoding <span class="gene" id="14668888-12-51-58">VEGF165</span> can be an effective method of treatment in patients with chronic and advanced <span class="disease" id="14668888-12-137-140">CAD</span> either as a supplementary treatment or as a single therapy. | CTD_human |
4 | 8 | Biomarker | C0796135 | Renpenning syndrome 1 | disease | Renpenning syndrome | 10084 | PQBP1 | PQBP1 | CTD_human | 15,024,694 | Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. | 0.402473 | Novel truncating mutations in the <span class="gene" id="15024694-0-34-71">polyglutamine tract binding protein 1</span> gene (<span class="gene" id="15024694-0-78-83">PQBP1</span>) cause <span class="disease" id="15024694-0-91-110">Renpenning syndrome</span> and X-linked mental retardation in another family with microcephaly. | CTD_human;UNIPROT |
35 | 84 | Biomarker | C0022716 | Menkes Kinky Hair Syndrome | disease | Menkes disease | 538 | ATP7A | ATP7A | CTD_human | 17,483,305 | Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein. | 0.727934 | Phenotypic diversity of <span class="disease" id="17483305-0-24-38">Menkes disease</span> in mottled mice is associated with defects in localisation and trafficking of the <span class="gene" id="17483305-0-121-126">ATP7A</span> protein. | CTD_human;ORPHANET;UNIPROT |
12 | 0 | Biomarker | C0030567 | Parkinson Disease | disease | PD | 5071 | PARK2 | Park2 | CTD_human | 24,582,596 | Here we have tested in vitro the effect of resveratrol treatment on primary fibroblast cultures from two patients with early-onset PD linked to different Park2 mutations. | 0.413846 | Here we have tested in vitro the effect of resveratrol treatment on primary fibroblast cultures from two patients with early-onset <span class="disease" id="24582596-5-131-133">PD</span> linked to different <span class="gene" id="24582596-5-154-159">Park2</span> mutations. | CTD_human |
null | null | Negative | MESH:C536528 | null | null | LPS | 7124 | null | TNF-a | null | 28,138,327 | We demonstrate that GM-CSF and IL-3 priming enhances TNF-a production upon subsequent LPS stimulation (short-term model of trained immunity) in a p38- and SIRT2-dependent manner without increasing TNF primary transcript levels (a more direct measure of transcription), thus supporting a posttranscriptional regulation of TNF-a in primed monocytes. | null | null | null |
null | null | Negative | MESH:D009410 | null | null | neuronal death | 216439 | null | PIKE | null | 28,096,359 | Hence, our findings demonstrate that a-synuclein neutralizes PIKE-L's neuroprotective actions in synucleinopathies, triggering dopaminergic neuronal death by hyperactivating AMPK. | null | null | null |
2 | 0 | Biomarker | C0022658 | Kidney Diseases | group | nephropathy | 142 | PARP1 | PARP-1 | CTD_human | 20,561,897 | Here, we show that hPARP-1 mice exhibit impaired survival rates accompanied by reduced hair growth and premature development of several inflammation and age-associated pathologies, such as adiposity, kyphosis, nephropathy, dermatitis, pneumonitis, cardiomyopathy, hepatitis, and anemia. | 0.2 | Here, we show that h<span class="gene" id="20561897-6-20-26">PARP-1</span> mice exhibit impaired survival rates accompanied by reduced hair growth and premature development of several inflammation and age-associated pathologies, such as adiposity, kyphosis, <span class="disease" id="20561897-6-210-221">nephropathy</span>, dermatitis, pneumonitis, cardiomyopathy, hepatitis, and anemia. | CTD_human |
1 | 0 | Biomarker | C0037286 | Skin Neoplasms | group | skin tumors | 2993 | GYPA | GPA | CTD_human | 17,029,826 | These data demonstrate that arsenic exposure is associated with mutations at the GPA locus, an effect exaggerated in patients bearing arsenic-induced skin tumors. | 0.200275 | These data demonstrate that arsenic exposure is associated with mutations at the <span class="gene" id="17029826-10-81-84">GPA</span> locus, an effect exaggerated in patients bearing arsenic-induced <span class="disease" id="17029826-10-150-161">skin tumors</span>. | CTD_human |
1 | 0 | Biomarker | C0027121 | Myositis | disease | myositis | 3557 | IL1RN | IL-1RN | CTD_human | 10,886,238 | Because IL-1alpha and IL-1beta, and the anti-inflammatory competitive inhibitor, IL-1 receptor antagonist (IL-1Ra), have been implicated in the pathogenesis of myositis, we assessed the role of variable number tandem repeat (VNTR) polymorphisms of the IL-1Ra gene (IL-1RN) in the aetiology of JIIM: IL-1RN VNTR polymorphisms were performed on 250 JIIM patients and 471 race-matched controls and were correlated with clinical characteristics. | 0.200549 | Because IL-1alpha and IL-1beta, and the anti-inflammatory competitive inhibitor, IL-1 receptor antagonist (<span class="gene" id="10886238-2-107-113">IL-1Ra</span>), have been implicated in the pathogenesis of <span class="disease" id="10886238-2-160-168">myositis</span>, we assessed the role of variable number tandem repeat (VNTR) polymorphisms of the <span class="gene" id="10886238-2-252-258">IL-1Ra</span> gene (<span class="gene" id="10886238-2-265-271">IL-1RN</span>) in the aetiology of JIIM: <span class="gene" id="10886238-2-299-305">IL-1RN</span> VNTR polymorphisms were performed on 250 JIIM patients and 471 race-matched controls and were correlated with clinical characteristics. | CTD_human |
null | null | Negative | MESH:D006623 | null | null | VHL | 5159 | null | PDGFRb | null | 28,143,107 | The gene probes chosen for this analysis were; VHL, FHIT, FGFR1/3, PDGFb, PDGFRb, EGFR, MYC and IGH@. | null | null | null |
null | null | Negative | MESH:D019694 | null | null | chronic hepatitis B | 3805 | null | KIR | null | 28,211,154 | Fifty-seven subjects with chronic hepatitis B (CHB), 44 subjects with resolved HBV infection and 60 healthy uninfected controls (HC) were genotyped for KIR and their HLA ligands. | null | null | null |
null | null | Negative | MESH:D007174 | null | null | randomized controlled trials | 64805 | null | P2Y12 | null | 28,089,137 | METHODS: MEDLINE/PubMed and ClinicalTrials.gov were searched for randomized controlled trials (RCTs) that compared at least two P2Y12 inhibitors including cangrelor, clopidogrel, prasugrel, and ticagrelor. | null | null | null |
64 | 0 | Therapeutic | C0002871 | Anemia | disease | anemia | 2056 | EPO | Epo | CTD_human | 8,260,696 | Administration of a lower Epo dose (1 U Epo) resulted in only a modest retardation of AZT-induced anemia, although, when combined with heme, there was a great improvement in recovery of erythropoiesis. | 0.24092 | Administration of a lower <span class="gene" id="8260696-4-26-29">Epo</span> dose (1 U <span class="gene" id="8260696-4-40-43">Epo</span>) resulted in only a modest retardation of AZT-induced <span class="disease" id="8260696-4-98-104">anemia</span>, although, when combined with heme, there was a great improvement in recovery of erythropoiesis. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 15978 | null | IFN-gamma | null | 28,136,733 | UNASSIGNED: 271 Background: ALT-801, a T-cell receptor/IL-2 fusion protein, activates NK and CD4(+) lymphocytes to secrete IFN-gamma which re-polarizes tumor associated macrophages from M1 to M2 in various murine tumor models. | null | null | null |
null | null | Negative | MESH:D013132 | null | null | inherited ataxia | 110616 | null | ATXN3 | null | 28,157,529 | UNASSIGNED: Machado-Joseph disease (MJD) is a dominantly inherited ataxia caused by a polyglutamine-coding expansion in the ATXN3 gene. | null | null | null |
null | null | Negative | MESH:D010146 | null | null | pain | 29650 | null | ADAM10 | null | 28,169,407 | Methods: Using the spinal nerve ligation model, we investigated whether ADAM10 proteins participate in pain regulation. | null | null | null |
null | null | Negative | MESH:D006509 | null | null | Hepatitis B | 944566 | null | HBx | null | 28,212,627 | BACKGROUND: The Hepatitis B Virus (HBV) HBx regulatory protein is required for HBV replication and involved in HBV-related carcinogenesis. | null | null | null |
null | null | Negative | MESH:D056587 | null | null | Cryopyrin-Associated Periodic Syndromes | 16176 | null | IL-1b | null | 28,148,962 | Additionally, QUC inhibited IL-1b in Cryopyrin-Associated Periodic Syndromes (CAPS) macrophages, where NLRP3 inflammasome is constitutively activated. | null | null | null |
2 | 0 | Biomarker | C0033578 | Prostatic Neoplasms | group | prostate tumor | 3169 | FOXA1 | FOXA1 | CTD_human | 26,457,646 | Introduction of FOXA1 and HOXB13 into an immortalized prostate cell line reprogrammed the AR cistrome to resemble that of a prostate tumor, functionally linking these specific factors to AR cistrome reprogramming. | 0.203008 | Introduction of <span class="gene" id="26457646-6-16-21">FOXA1</span> and HOXB13 into an immortalized prostate cell line reprogrammed the AR cistrome to resemble that of a <span class="disease" id="26457646-6-124-138">prostate tumor</span>, functionally linking these specific factors to AR cistrome reprogramming. | CTD_human |
null | null | Negative | MESH:D006332 | null | null | obesity-related cardiac hypertrophy | 26416 | null | p38 MAPK | null | 28,158,919 | Obesity often leads to obesity-related cardiac hypertrophy (ORCH), which is suppressed by zinc-induced inactivation of p38 mitogen-activated protein kinase (p38 MAPK). | null | null | null |
null | null | Negative | MESH:D049914 | null | null | deficient homologous repair | 472;672;675 | null | BRCA1/2 and ATM | null | 28,022,799 | PARP inhibition enhances chemotherapy and induces cell death by synthetic lethality in patients with deficient homologous repair (BRCA1/2 and ATM). | null | null | null |
69 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 183 | AGT | angiotensin II | CTD_human | 26,564,064 | Role of the Na+/H+ exchanger 3 in angiotensin II-induced hypertension in NHE3-deficient mice with transgenic rescue of NHE3 in small intestines. | 0.52 | Role of the Na+/H+ exchanger 3 in <span class="gene" id="26564064-0-34-48">angiotensin II</span>-induced <span class="disease" id="26564064-0-57-69">hypertension</span> in NHE3-deficient mice with transgenic rescue of NHE3 in small intestines. | CTD_human |
3 | 21 | Biomarker | C0268263 | Multiple Sulfatase Deficiency Disease | disease | Multiple sulfatase deficiency | 285362 | SUMF1 | SUMF1 | CTD_human | 17,657,823 | Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene. | 0.683571 | <span class="disease" id="17657823-0-0-29">Multiple sulfatase deficiency</span> is due to hypomorphic mutations of the <span class="gene" id="17657823-0-69-74">SUMF1</span> gene. | CTD_human;ORPHANET;UNIPROT |
2 | 1 | Biomarker | C0238358 | Hypokalemic periodic paralysis | disease | hypokalemic periodic paralysis | 779 | CACNA1S | CACNA1S | CTD_human | 19,822,448 | Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis. | 0.417265 | Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the <span class="gene" id="19822448-0-75-82">CACNA1S</span> gene in a patient with <span class="disease" id="19822448-0-106-136">hypokalemic periodic paralysis</span>. | CTD_human;ORPHANET |
2 | 0 | Biomarker | C0028754 | Obesity | disease | obesity | 3358 | HTR2C | HTR2C | CTD_human | 17,702,092 | Evidence was based on the observation that knock-out mice for the HTR2C receptor gene develop obesity and that many antipsychotics (AP) with potent HTR2C antagonism may induce weight gain in susceptible individuals. | 0.226334 | Evidence was based on the observation that knock-out mice for the <span class="gene" id="17702092-2-66-71">HTR2C</span> receptor gene develop <span class="disease" id="17702092-2-94-101">obesity</span> and that many antipsychotics (AP) with potent <span class="gene" id="17702092-2-148-153">HTR2C</span> antagonism may induce weight gain in susceptible individuals. | CTD_human |
null | null | Negative | MESH:D056486 | null | null | hepatic toxicity | 116637 | null | CCl4 | null | 28,084,470 | At equivalent doses, NCX 6560 eliminated hepatic toxicity and reduced muscular toxicity (60-74%) caused by atorvastatin in the more advanced BDL model; toxicity was minimal in the CCl4 model. | null | null | null |
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