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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
null | null | Negative | MESH:D006939 | null | null | Cannabinoid hyperemesis syndrome | 1130 | null | CHS | null | 28,000,146 | Cannabinoid hyperemesis syndrome (CHS) is a syndrome of cyclic vomiting associated with cannabis use. | null | null | null |
1 | 0 | Therapeutic | C0014556 | Epilepsy, Temporal Lobe | disease | temporal lobe epilepsy | 4852 | NPY | NPY | CTD_human | 15,716,408 | In the pilocarpine model of temporal lobe epilepsy, mossy fibers coexpress the inhibitory transmitter neuropeptide Y (NPY) with glutamate. | 0.200824 | In the pilocarpine model of <span class="disease" id="15716408-1-28-50">temporal lobe epilepsy</span>, mossy fibers coexpress the inhibitory transmitter <span class="gene" id="15716408-1-102-116">neuropeptide Y</span> (<span class="gene" id="15716408-1-118-121">NPY</span>) with glutamate. | CTD_human |
null | null | Negative | MESH:C536528 | null | null | LPS | 3553 | null | IL-1b | null | 28,081,652 | Compounds 1 and 6 inhibited the expression of IL-1b on LPS induced THP-1 cells with the inhibition rate of 35.78 and 64.67%, respectively, at concentration of 25 g/mL. | null | null | null |
2 | 11 | Biomarker | C2745948 | Hyalinosis, Systemic | disease | ISH | 118429 | ANTXR2 | CMG2 | CTD_human | 12,973,667 | Finally, and possibly providing insight into the pathophysiology of these diseases, analysis of fibroblasts derived from patients with JHF or ISH suggests that CMG2 mutations abrogate normal cell interactions with the extracellular matrix. | 0.604121 | Finally, and possibly providing insight into the pathophysiology of these diseases, analysis of fibroblasts derived from patients with <span class="disease" id="12973667-8-135-138">JHF</span> or <span class="disease" id="12973667-8-142-145">ISH</span> suggests that <span class="gene" id="12973667-8-160-164">CMG2</span> mutations abrogate normal cell interactions with the extracellular matrix. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D019337 | null | null | hematological malignancies | 20848 | null | STAT3 | null | 28,208,828 | Signal transducer and activator of transcription 3 (STAT3) is an oncogenic transcription factor that regulates various critical functions involved in progression of diverse hematological malignancies, including multiple myeloma, therefore attenuating STAT3 activation may have a potential in cancer therapy. | null | null | null |
null | null | Negative | MESH:D011475 | null | null | OS | 8115 | null | TCL1 | null | 28,194,886 | OS of patients with TCL1 rearrangement and/or 14q aberrations was not significantly different from patients without TCL1 rearrangement and 14q aberrations (P = .3467). | null | null | null |
null | null | Negative | MESH:D017827 | null | null | wild type | 17872 | null | GADD34 | null | 28,139,216 | METHODS: Time-pregnant CHOP/GADD34 DM and wild type (WT) mice were randomly assigned to sleep control (SC) or SF conditions during the last 5days of gestation. | null | null | null |
null | null | Negative | MESH:D015212 | null | null | inflammatory bowel disease | 112744 | null | IL17F | null | 28,186,427 | UNASSIGNED: This meta-analysis examined the relationship between IL-17A (rs2275913) and IL17F (rs763780 T/C) gene polymorphisms and the risk of inflammatory diseases, including periodontitis, rheumatoid arthritis (RA), and inflammatory bowel disease. | null | null | null |
null | null | Negative | MESH:D002277 | null | null | nasopharyngeal carcinoma | 21423 | null | TCF3 | null | 28,107,608 | In this study, we aimed to identify the expression of TCF3 in human nasopharyngeal carcinoma (NPC) and evaluate its clinical significance. | null | null | null |
null | null | Negative | MESH:D014766 | null | null | viremia | 10625 | null | NS1 | null | 28,034,883 | In the multivariate logistic model, a history of vomiting, lower platelet count, elevated aspartate aminotransferase (AST) level, positivity in the nonstructural protein 1 (NS1) rapid test, and viremia magnitude were all independently associated with severe dengue. | null | null | null |
9 | 0 | Therapeutic | C0034065 | Pulmonary Embolism | disease | Pulmonary Embolism | 5327 | PLAT | Alteplase | CTD_human | 8,082,347 | Reduced dose bolus alteplase vs conventional alteplase infusion for pulmonary embolism thrombolysis. An international multicenter randomized trial. The Bolus Alteplase Pulmonary Embolism Group. | 0.200275 | Reduced dose bolus <span class="gene" id="8082347-0-19-28">alteplase</span> vs conventional <span class="gene" id="8082347-0-45-54">alteplase</span> infusion for <span class="disease" id="8082347-0-68-86">pulmonary embolism</span> thrombolysis. An international multicenter randomized trial. The Bolus <span class="gene" id="8082347-0-158-167">Alteplase</span> <span class="disease" id="8082347-0-168-186">Pulmonary Embolism</span> Group. | CTD_human |
null | null | Negative | MESH:D003920 | null | null | diabetic | 12323 | null | CaMKII | null | 28,105,734 | CaMKII phosphorylation of RyR2, SR Ca<sup>2+</sup>leak and mitochondrial membrane depolarization are critically involved in the apoptotic pathway of the pre-diabetic heart. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | cancer | 109264 | null | ME3 | null | 28,099,419 | As loss of neighbouring housekeeping genes can confer collateral lethality, we sought to determine whether loss of the metabolic gene malic enzyme 2 (ME2) in the SMAD4 locus would create cancer-specific metabolic vulnerability upon targeting of its paralogous isoform ME3. | null | null | null |
2 | 0 | Biomarker | C0002395 | Alzheimer's Disease | disease | AD | 5468 | PPARG | PPARgamma | 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. | 0.225193 | Our data strongly support a major role of <span class="gene" id="16407166-11-42-51">PPARgamma</span> 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 <span class="gene" id="16407166-11-194-203">PPARgamma</span> and decreased BACE1 gene transcription. | CTD_human |
1 | 0 | Biomarker | C1136249 | Mental Retardation, X-Linked | disease | X-linked mental retardation | 65109 | UPF3B | UPF3B | CTD_human | 17,704,778 | By systematically sequencing 737 genes (annotated in the Vertebrate Genome Annotation database) on the human X chromosome in 250 families with X-linked mental retardation, we identified mutations in the UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B) leading to protein truncations in three families: two with the Lujan-Fryns phenotype and one with the FG phenotype. | 0.200549 | By systematically sequencing 737 genes (annotated in the Vertebrate Genome Annotation database) on the human X chromosome in 250 families with <span class="disease" id="17704778-3-143-170">X-linked mental retardation</span>, we identified mutations in the <span class="gene" id="17704778-3-203-258">UPF3 regulator of nonsense transcripts homolog B (yeast</span>) (<span class="gene" id="17704778-3-261-266">UPF3B</span>) leading to protein truncations in three families: two with the Lujan-Fryns phenotype and one with the FG phenotype. | CTD_human |
3 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | Autism | 4128 | MAOA | MAOA | CTD_human | 20,573,161 | Autism severity is associated with child and maternal MAOA genotypes. | 0.414782 | <span class="disease" id="20573161-0-0-6">Autism</span> severity is associated with child and maternal <span class="gene" id="20573161-0-54-58">MAOA</span> genotypes. | CTD_human;HPO |
null | null | Negative | MESH:D009410 | null | null | neuronal death | 18673 | null | Prohibitin | null | 28,062,948 | Prohibitin over-expression resisted MPP<sup>+</sup>-induced neuronal death by restoring mitochondrial membrane potential, preventing reactive oxygen species generation and cytochrome c release into cytosol. | null | null | null |
null | null | Negative | MESH:D015458 | null | null | T-lymphocytic leukemias | 21423 | null | Tcf3 | null | 28,045,896 | In MCM2 deficient mice a different set of preferred breakage sites is identified that includes the tumor suppressor gene Tcf3, which is known to contribute to T-lymphocytic leukemias that arise in these mice, and the 45S rRNA gene repeats. | null | null | null |
2 | 0 | Biomarker | C0017658 | Glomerulonephritis | disease | GN | 3558 | IL2 | IL-2 | CTD_human | 10,910,440 | Memory cells, and IL-2 receptors also were elevated in the GN group. | 0.200549 | Memory cells, and <span class="gene" id="10910440-6-18-22">IL-2</span> receptors also were elevated in the <span class="disease" id="10910440-6-59-61">GN</span> group. | CTD_human |
2 | 0 | Biomarker | C0010606 | Adenoid Cystic Carcinoma | disease | adenoid cystic carcinoma | 4602 | MYB | MYB | CTD_human | 26,829,750 | An oncogenic MYB feedback loop drives alternate cell fates in adenoid cystic carcinoma. | 0.209066 | An oncogenic <span class="gene" id="26829750-0-13-16">MYB</span> feedback loop drives alternate cell fates in <span class="disease" id="26829750-0-62-86">adenoid cystic carcinoma</span>. | CTD_human |
11 | 173 | Biomarker | C0085548 | Autosomal Recessive Polycystic Kidney Disease | disease | ARPKD | 5314 | PKHD1 | FPC | CTD_human | 19,524,688 | These observations should provide an important platform for determining FPC function and the pathogenesis of ARPKD, with the targeting of mTOR signaling being exploitable as a novel therapy. | 0.714804 | These observations should provide an important platform for determining <span class="gene" id="19524688-7-72-75">FPC</span> function and the pathogenesis of <span class="disease" id="19524688-7-109-114">ARPKD</span>, with the targeting of mTOR signaling being exploitable as a novel therapy. | CTD_human;ORPHANET;UNIPROT |
3 | 0 | Therapeutic | C0036572 | Seizures | phenotype | seizure | 627 | BDNF | BDNF | CTD_human | 15,781,040 | PRI-2191 alone had no effect on gene expression, but it enhanced the seizure-evoked expression of HSP-70, had an opposite effect on BDNF mRNA level and did not affect prepro-TRH mRNA level. | 0.203571 | PRI-2191 alone had no effect on gene expression, but it enhanced the <span class="disease" id="15781040-7-69-76">seizure</span>-evoked expression of HSP-70, had an opposite effect on <span class="gene" id="15781040-7-132-136">BDNF</span> mRNA level and did not affect prepro-TRH mRNA level. | CTD_human |
1 | 0 | Biomarker | C0022661 | Kidney Failure, Chronic | disease | ESRD | 7124 | TNF | tumor necrosis factor-alpha | CTD_human | 19,539,174 | Subcutaneous and visceral mRNA expressions of tumor necrosis factor-alpha and CD68 were significantly increased in the ESRD versus control group. | 0.241255 | Subcutaneous and visceral mRNA expressions of <span class="gene" id="19539174-8-46-73">tumor necrosis factor-alpha</span> and CD68 were significantly increased in the <span class="disease" id="19539174-8-119-123">ESRD</span> versus control group. | CTD_human |
68 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 5443 | POMC | adrenocorticotropic hormone | CTD_human | 16,620,303 | Atorvastatin prevented and partially reversed adrenocorticotropic hormone-induced hypertension in the rat. | 0.203846 | Atorvastatin prevented and partially reversed <span class="gene" id="16620303-0-46-73">adrenocorticotropic hormone</span>-induced <span class="disease" id="16620303-0-82-94">hypertension</span> in the rat. | CTD_human |
null | null | Negative | MESH:D002285 | null | null | DCIS | 5241 | null | PgR | null | 28,017,120 | Median time from menopause: 9.7 yrs E and 8.0 yrs P. ER and/or PgR: +ve 130 pts, unknown 17 (15 with DCIS). | null | null | null |
2 | 0 | Biomarker | C0020557 | Hypertriglyceridemia | phenotype | hypertriglyceridemia | 4023 | LPL | lipoprotein lipase | CTD_human | 8,147,947 | Effects of treatment with bezafibrate on lipoprotein lipase activity and mass in patients with hypertriglyceridemia. | 0.306491 | Effects of treatment with bezafibrate on <span class="gene" id="8147947-0-41-59">lipoprotein lipase</span> activity and mass in patients with <span class="disease" id="8147947-0-95-115">hypertriglyceridemia</span>. | CTD_human |
2 | 0 | Biomarker | C0009324 | Ulcerative Colitis | disease | ulcerative colitis | 3576 | CXCL8 | IL-8 | CTD_human | 15,955,209 | Increased activation of NF-kappaB and high levels of the expression of interleukin (IL)-1beta mRNA and IL-8 mRNA were detected in biopsy specimens from patients with ulcerative colitis. | 0.210634 | Increased activation of NF-kappaB and high levels of the expression of interleukin (IL)-1beta mRNA and <span class="gene" id="15955209-8-103-107">IL-8</span> mRNA were detected in biopsy specimens from patients with <span class="disease" id="15955209-8-166-184">ulcerative colitis</span>. | CTD_human |
7 | 17 | Biomarker | C1563715 | Andersen Syndrome | disease | Andersen syndrome | 3759 | KCNJ2 | KCNJ2 | CTD_human | 17,399,643 | Electrophysiologic characteristics of an Andersen syndrome patient with KCNJ2 mutation. | 0.631233 | Electrophysiologic characteristics of an <span class="disease" id="17399643-0-41-58">Andersen syndrome</span> patient with <span class="gene" id="17399643-0-72-77">KCNJ2</span> mutation. | CTD_human;ORPHANET;UNIPROT |
10 | 3 | Biomarker | C0030567 | Parkinson Disease | disease | PD | 120892 | LRRK2 | LRRK2 | CTD_human | 25,631,236 | One major advance in this field has been the discovery of several genes associated to familial PD, including alpha synuclein, parkin, LRRK2, etc., thereby providing important insight toward basic research approaches. | 0.44 | One major advance in this field has been the discovery of several genes associated to familial <span class="disease" id="25631236-2-95-97">PD</span>, including alpha synuclein, parkin, <span class="gene" id="25631236-2-134-139">LRRK2</span>, etc., thereby providing important insight toward basic research approaches. | CTD_human |
null | null | Negative | MESH:D020278 | null | null | autoimmune diseases of the central nervous system | 16171 | null | IL-17 | null | 28,084,589 | Recent evidence suggests a pivotal role of the proinflammatory cytokine interleukin - 17A (IL-17) in demyelinating autoimmune diseases of the central nervous system (CNS) such as multiple sclerosis (MS). | null | null | null |
1 | 0 | Biomarker | C0014553 | Absence Epilepsy | disease | childhood absence epilepsy | 2562 | GABRB3 | GABRB3 | CTD_human | 18,514,161 | Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. | 0.213302 | Hyperglycosylation and reduced GABA currents of mutated <span class="gene" id="18514161-0-56-62">GABRB3</span> polypeptide in remitting <span class="disease" id="18514161-0-88-114">childhood absence epilepsy</span>. | CTD_human |
null | null | Negative | MESH:D004342 | null | null | hypersensitivity | 16193 | null | IL-6 | 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:C562592 | null | null | XPF | 2067 | null | ERCC1 | null | 28,008,962 | We demonstrate the general applicability of mwPIFE for examining various aspects of protein/DNA interactions with examples from the restriction enzyme BamHI, and the DNA repair complexes Ku and XPF/ERCC1. | null | null | null |
1 | 0 | Biomarker | C0002736 | Amyotrophic Lateral Sclerosis | disease | ALS | 755 | C21orf2 | C21orf2 | CTD_human | 27,455,348 | Through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 controls in an independent replication cohort, we fine-mapped a new risk locus on chromosome 21 and identified C21orf2 as a gene associated with ALS risk. | 0.2 | Through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 controls in an independent replication cohort, we fine-mapped a new risk locus on chromosome 21 and identified <span class="gene" id="27455348-2-240-247">C21orf2</span> as a gene associated with <span class="disease" id="27455348-2-274-277">ALS</span> risk. | CTD_human |
1 | 0 | Biomarker | C0005586 | Bipolar Disorder | disease | bipolar disorder | 7226 | TRPM2 | TRPM2 | CTD_human | 23,602,965 | Chronic oxidative stress modulates TRPC3 and TRPM2 channel expression and function in rat primary cortical neurons: relevance to the pathophysiology of bipolar disorder. | 0.209745 | Chronic oxidative stress modulates TRPC3 and <span class="gene" id="23602965-0-45-50">TRPM2</span> channel expression and function in rat primary cortical neurons: relevance to the pathophysiology of <span class="disease" id="23602965-0-152-168">bipolar disorder</span>. | CTD_human |
1 | 0 | Biomarker | C0027497 | Nausea | phenotype | nausea | 5443 | POMC | adrenocorticotropic hormone | CTD_human | 11,141,589 | Intractable nausea attributable to isolated deficiency of adrenocorticotropic hormone: prompt resolution after administration of glucocorticoid. | 0.2 | Intractable <span class="disease" id="11141589-0-12-18">nausea</span> attributable to isolated deficiency of <span class="gene" id="11141589-0-58-85">adrenocorticotropic hormone</span>: prompt resolution after administration of glucocorticoid. | CTD_human |
null | null | Negative | MESH:D015518 | null | null | RTT | 3479 | null | Insulin-like Growth Factor 1 | null | 28,007,906 | Interestingly, treatment of RTT-derived neurons with Insulin-like Growth Factor 1 (IGF1) could rescue some of these cellular phenotypes. | null | null | null |
null | null | Negative | MESH:D009203 | null | null | myocardial infarction | 24498 | null | interleukin-6 | null | 28,110,194 | The results demonstrated that compared to I/R group, TA reduced myocardial infarction area, declined serum creatinine kinase (CK), lactate dehydrogenase (LDH) levels, attenuated serum interleukin-6 (IL-6), IL-1b and tumour necrosis factor (TNF-a) production. | null | null | null |
null | null | Negative | MESH:D011475 | null | null | RFS | 1084 | null | CEA | null | 28,020,295 | However, there was a trend for improved RFS among patients with CEA-specific T cell responses (log rank p = 0.10). | null | null | null |
1 | 0 | Biomarker | C0007570 | Celiac Disease | disease | celiac disease | 3600 | IL15 | IL-15 | CTD_human | 23,269,601 | Tofacitinib, a janus kinase inhibitor demonstrates efficacy in an IL-15 transgenic mouse model that recapitulates pathologic manifestations of celiac disease. | 0.20522 | Tofacitinib, a janus kinase inhibitor demonstrates efficacy in an <span class="gene" id="23269601-0-66-71">IL-15</span> transgenic mouse model that recapitulates pathologic manifestations of <span class="disease" id="23269601-0-143-157">celiac disease</span>. | CTD_human |
2 | 0 | Biomarker | C0023418 | leukemia | disease | leukemia | 8202 | NCOA3 | SRC-3 | CTD_human | 19,433,130 | Gambogic acid induces G0/G1 arrest and apoptosis involving inhibition of SRC-3 and inactivation of Akt pathway in K562 leukemia cells. | 0.200275 | Gambogic acid induces G0/G1 arrest and apoptosis involving inhibition of <span class="gene" id="19433130-0-73-78">SRC-3</span> and inactivation of Akt pathway in K562 <span class="disease" id="19433130-0-119-127">leukemia</span> cells. | CTD_human |
2 | 0 | Biomarker | C0008370 | Cholestasis | disease | cholestasis | 123264 | SLC51B | OSTbeta | CTD_human | 16,423,920 | Upregulation of a basolateral FXR-dependent bile acid efflux transporter OSTalpha-OSTbeta in cholestasis in humans and rodents. | 0.203008 | Upregulation of a basolateral FXR-dependent bile acid efflux transporter OSTalpha-<span class="gene" id="16423920-0-82-89">OSTbeta</span> in <span class="disease" id="16423920-0-93-104">cholestasis</span> in humans and rodents. | CTD_human |
1 | 0 | Therapeutic | C0033578 | Prostatic Neoplasms | group | prostate tumor | 3490 | IGFBP7 | Mac25 | CTD_human | 12,592,389 | Increased manganese superoxide dismutase (SOD-2) is part of the mechanism for prostate tumor suppression by Mac25/insulin-like growth factor binding-protein-related protein-1. | 0.206015 | Increased manganese superoxide dismutase (SOD-2) is part of the mechanism for <span class="disease" id="12592389-0-78-92">prostate tumor</span> suppression by <span class="gene" id="12592389-0-108-113">Mac25</span>/insulin-like growth factor binding-protein-related protein-1. | CTD_human |
null | null | Negative | MESH:C537963 | null | null | calvarial defects | 658 | null | bone morphogenetic protein receptor type IB | null | 28,170,187 | Considering that skin is the largest organ, we hypothesized that human bone morphogenetic protein receptor type IB (BmprIB)+ dermal cells could have enhanced osteogenic capacity in the healing of critical-sized calvarial defects in an immunodeficient mouse model. | null | null | null |
7 | 0 | Biomarker | C0005586 | Bipolar Disorder | disease | bipolar illness | 627 | BDNF | BDNF | CTD_human | 19,018,715 | This paper describes a relationship between response to lithium prophylaxis and polymorphisms of two functionally connected genes: BDNF and NTRK2, in bipolar illness. | 0.516286 | This paper describes a relationship between response to lithium prophylaxis and polymorphisms of two functionally connected genes: <span class="gene" id="19018715-2-131-135">BDNF</span> and NTRK2, in <span class="disease" id="19018715-2-150-165">bipolar illness</span>. | CTD_human;PSYGENET |
1 | 0 | Biomarker | C0021390 | Inflammatory Bowel Diseases | group | inflammatory bowel disease | 7124 | TNF | TNF-alpha | CTD_human | 15,086,448 | Tumour necrosis factor-alpha (TNF-alpha) plays a central role in the pathophysiology of inflammatory bowel disease. | 0.266819 | <span class="gene" id="15086448-1-0-28">Tumour necrosis factor-alpha</span> (<span class="gene" id="15086448-1-30-39">TNF-alpha</span>) plays a central role in the pathophysiology of <span class="disease" id="15086448-1-88-114">inflammatory bowel disease</span>. | CTD_human |
null | null | Negative | MESH:D003866 | null | null | depression | 14799 | null | GluA1 | null | 28,178,321 | GR1 treatment reduced AMPA-R mediated excitatory postsynaptic currents at hippocampal CA1 synapses, without affecting long-term potentiation or long-term depression, cellular models of memory, or impairing GluA1-dependent cognition or motor function in mice. | null | null | null |
12 | 0 | Therapeutic | C0027947 | Neutropenia | disease | neutropenia | 1440 | CSF3 | G-CSF | CTD_human | 7,688,884 | Initial data from primates revealed that G-CSF could ameliorate neutropenia following nitrogen mustard exposure. | 0.21537 | Initial data from primates revealed that <span class="gene" id="7688884-3-41-46">G-CSF</span> could ameliorate <span class="disease" id="7688884-3-64-75">neutropenia</span> following nitrogen mustard exposure. | CTD_human |
1 | 0 | Biomarker | C0019189 | Hepatitis, Chronic | disease | chronic hepatitis | 27232 | GNMT | GNMT | CTD_human | 19,146,867 | Previously, we reported that glycine N-methyltransferase (GNMT) knockout mice develop chronic hepatitis and hepatocellular carcinoma (HCC) spontaneously. | 0.200549 | Previously, we reported that <span class="gene" id="19146867-1-29-56">glycine N-methyltransferase</span> (<span class="gene" id="19146867-1-58-62">GNMT</span>) knockout mice develop <span class="disease" id="19146867-1-86-103">chronic hepatitis</span> and hepatocellular carcinoma (HCC) spontaneously. | CTD_human |
null | null | Negative | MESH:D053560 | null | null | IBS-D | 9075 | null | CLDN2 | null | 28,082,316 | Consistently, protein expression of CGN and CLDN2 was upregulated in IBS-D, while the respective targeting miRNAs were downregulated. | null | null | null |
1 | 0 | Therapeutic | C0036572 | Seizures | phenotype | convulsions | 6752 | SSTR2 | somatostatin receptor-2 | CTD_human | 16,771,832 | Our study suggests that the ability of Ang IV to inhibit pilocarpine-induced convulsions is dependent on somatostatin receptor-2 activation, and is possibly mediated via the inhibition of IRAP resulting in an elevated concentration of somatostatin-14 in the brain. | 0.2 | Our study suggests that the ability of Ang IV to inhibit pilocarpine-induced <span class="disease" id="16771832-5-77-88">convulsions</span> is dependent on <span class="gene" id="16771832-5-105-128">somatostatin receptor-2</span> activation, and is possibly mediated via the inhibition of IRAP resulting in an elevated concentration of somatostatin-14 in the brain. | CTD_human |
null | null | Negative | MESH:D007029 | null | null | hypothalamic-pituitary-adrenal (HPA) axis | 2523 | null | HSC | null | 28,196,601 | Here we show that muscarinic receptor type-1 (Chrm1) signaling in the hypothalamus promotes G-CSF-elicited HSC mobilization via hormonal priming of the hypothalamic-pituitary-adrenal (HPA) axis. | null | null | null |
2 | 3 | Biomarker | C0751335 | Scapuloperoneal Form of Spinal Muscular Atrophy | disease | Scapuloperoneal spinal muscular atrophy | 59341 | TRPV4 | TRPV4 | CTD_human | 20,037,587 | Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. | 0.601099 | <span class="disease" id="20037587-0-0-39">Scapuloperoneal spinal muscular atrophy</span> and CMT2C are allelic disorders caused by alterations in <span class="gene" id="20037587-0-97-102">TRPV4</span>. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C1868720 | Periventricular Nodular Heterotopia | disease | periventricular nodular heterotopia | 23327 | NEDD4L | NEDD4L | CTD_human | 27,694,961 | Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. | 0.4 | Mutations in the HECT domain of <span class="gene" id="27694961-0-32-38">NEDD4L</span> lead to AKT-mTOR pathway deregulation and cause <span class="disease" id="27694961-0-87-122">periventricular nodular heterotopia</span>. | CTD_human;ORPHANET |
null | null | Negative | MESH:D001041 | null | null | AFS | 1903 | null | S1-P3 | null | 28,068,353 | First, the mean amplitude of the ERP component parietal positivity elicited by S1 (S1-P3) was smaller in AWS than in AFS, which implies that AWS may have deficits in investing working memory on phonological programming. | null | null | null |
1 | 0 | Therapeutic | C0020459 | Hyperinsulinism | disease | hyperinsulinemia | 4846 | NOS3 | endothelial nitric-oxide synthase | CTD_human | 19,008,412 | Increased endothelial nitric-oxide synthase expression reduces hypertension and hyperinsulinemia in fructose-treated rats. | 0.202956 | Increased <span class="gene" id="19008412-0-10-43">endothelial nitric-oxide synthase</span> expression reduces hypertension and <span class="disease" id="19008412-0-80-96">hyperinsulinemia</span> in fructose-treated rats. | CTD_human |
null | null | Negative | MESH:D007238 | null | null | infarct | 289623 | null | LIG | null | 28,169,530 | Z-LIG significantly mitigated infarct volume, neurological dysfunction, blood-brain barrier disruption, and brain edema (p < 0.01). | null | null | null |
1 | 0 | Biomarker | C0038220 | Status Epilepticus | disease | status epilepticus | 5743 | PTGS2 | Cyclooxygenase-2 | CTD_human | 18,988,310 | Cyclooxygenase-2 inhibitor inhibits hippocampal synaptic reorganization in pilocarpine-induced status epilepticus rats. | 0.2 | <span class="gene" id="18988310-0-0-16">Cyclooxygenase-2</span> inhibitor inhibits hippocampal synaptic reorganization in pilocarpine-induced <span class="disease" id="18988310-0-95-113">status epilepticus</span> rats. | CTD_human |
1 | 0 | Biomarker | C0022578 | Keratoconus | disease | keratoconus | 64778 | FNDC3B | FNDC3B | CTD_human | 23,291,589 | We further showed that 2 CCT-associated loci, FOXO1 and FNDC3B, conferred relatively large risks for keratoconus in 2 cohorts with 874 cases and 6,085 controls (rs2721051 near FOXO1 had odds ratio (OR) = 1.62, 95% confidence interval (CI) = 1.4-1.88, P = 2.7 × 10(-10), and rs4894535 in FNDC3B had OR = 1.47, 95% CI = 1.29-1.68, P = 4.9 × 10(-9)). | 0.201099 | We further showed that 2 CCT-associated loci, FOXO1 and <span class="gene" id="23291589-3-56-62">FNDC3B</span>, conferred relatively large risks for <span class="disease" id="23291589-3-101-112">keratoconus</span> in 2 cohorts with 874 cases and 6,085 controls (rs2721051 near FOXO1 had odds ratio (OR) = 1.62, 95% confidence interval (CI) = 1.4-1.88, P = 2.7 × 10(-10), and rs4894535 in <span class="gene" id="23291589-3-287-293">FNDC3B</span> had OR = 1.47, 95% CI = 1.29-1.68, P = 4.9 × 10(-9)). | CTD_human |
1 | 0 | Biomarker | C0017168 | Gastroesophageal reflux disease | disease | gastro esophageal reflux disease | 18 | ABAT | ABAT | CTD_human | 21,552,517 | 4-aminobutyrate aminotransferase (ABAT): genetic and pharmacological evidence for an involvement in gastro esophageal reflux disease. | 0.200275 | <span class="gene" id="21552517-0-0-32">4-aminobutyrate aminotransferase</span> (<span class="gene" id="21552517-0-34-38">ABAT</span>): genetic and pharmacological evidence for an involvement in <span class="disease" id="21552517-0-100-132">gastro esophageal reflux disease</span>. | CTD_human |
null | null | Negative | MESH:D012183 | null | null | trans-Golgi network | 3726 | null | AP1 | null | 28,055,014 | Co-localization of the adaptor protein complex AP1 and trans-Golgi network (TGN) protein TGN46 was disrupted, suggesting that the malformation of acrosomes is most likely due to the defect in the sorting and coating of Golgi-derived pro-acrosomic vesicles. | null | null | null |
null | null | Negative | MESH:D014718 | null | null | vesicoureteral reflux | 54113 | null | VUR | null | 28,089,295 | INTRODUCTION AND OBJECTIVE: Management of vesicoureteral reflux (VUR) remains controversial, and reflux grade constitutes an important prognostic factor. | null | null | null |
1 | 0 | Biomarker | C3714756 | Intellectual Disability | group | intellectual disability | 25942 | SIN3A | SIN3A | CTD_human | 27,399,968 | Together, our data establish that haploinsufficiency of SIN3A is associated with mild syndromic intellectual disability and that SIN3A can be considered to be a key transcriptional regulator of cortical brain development. | 0.4 | Together, our data establish that haploinsufficiency of <span class="gene" id="27399968-6-56-61">SIN3A</span> is associated with mild syndromic <span class="disease" id="27399968-6-96-119">intellectual disability</span> and that <span class="gene" id="27399968-6-129-134">SIN3A</span> can be considered to be a key transcriptional regulator of cortical brain development. | CTD_human;HPO |
1 | 0 | Biomarker | C0027627 | Neoplasm Metastasis | phenotype | tumour metastasis | 5287 | PIK3C2B | PIK3C2B | CTD_human | 21,986,133 | Based on the tumour samples, expression of PIK3C2B was associated with tumour metastasis and in vitro assay suggested that it mediated cell migration. | 0.201099 | Based on the tumour samples, expression of <span class="gene" id="21986133-8-43-50">PIK3C2B</span> was associated with <span class="disease" id="21986133-8-71-88">tumour metastasis</span> and in vitro assay suggested that it mediated cell migration. | CTD_human |
2 | 0 | Biomarker | C0022661 | Kidney Failure, Chronic | disease | chronic renal failure | 1636 | ACE | ACE | CTD_human | 7,593,601 | The results indicate that deletion polymorphism in the ACE gene, particularly the homozygote DD, is a risk factor for progression to chronic renal failure in IgA nephropathy. | 0.305521 | The results indicate that deletion polymorphism in the <span class="gene" id="7593601-9-55-58">ACE</span> gene, particularly the homozygote DD, is a risk factor for progression to <span class="disease" id="7593601-9-133-154">chronic renal failure</span> in IgA nephropathy. | CTD_human |
1 | 0 | Biomarker | C0079541 | Holoprosencephaly | disease | HPE | 7050 | TGIF1 | TGIF | CTD_human | 16,705,179 | Haploinsufficient mutations in the TG-interacting factor (TGIF) gene were previously identified in a subset of HPE families and sporadic patients, and this gene is located within a region of chromosome 18 that is associated with nonrandom chromosomal aberrations in HPE patients. | 0.216151 | Haploinsufficient mutations in the TG-interacting factor (<span class="gene" id="16705179-2-58-62">TGIF</span>) gene were previously identified in a subset of <span class="disease" id="16705179-2-111-114">HPE</span> families and sporadic patients, and this gene is located within a region of chromosome 18 that is associated with nonrandom chromosomal aberrations in <span class="disease" id="16705179-2-266-269">HPE</span> patients. | CTD_human |
6 | 0 | Biomarker | C0017665 | Membranous glomerulonephritis | disease | membranous glomerulonephritis | 213 | ALB | serum albumin | CTD_human | 9,794,552 | Effects of FK506 on experimental membranous glomerulonephritis induced by cationized bovine serum albumin in rats. | 0.201648 | Effects of FK506 on experimental <span class="disease" id="9794552-0-33-62">membranous glomerulonephritis</span> induced by cationized bovine <span class="gene" id="9794552-0-92-105">serum albumin</span> in rats. | CTD_human |
null | null | Negative | MESH:D020016 | null | null | activated protein C | 1351 | null | VIII | null | 28,043,678 | We have examined the association between the coagulation markers fibrinogen, von Willebrand Factor (VWF), Factors VII, VIII and IX, D-dimer, activated protein C (APC) and activated partial thromboplastin time (aPPT) with NT-proBNP and incident HF. | null | null | null |
1 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 7200 | TRH | TRH | CTD_human | 6,350,720 | In addition, intraventricular administration of TRH, LHRH or LH caused tachycardia, hypertension and a reduction in the epinephrine-induced reflex bradycardia. | 0.200824 | In addition, intraventricular administration of <span class="gene" id="6350720-5-48-51">TRH</span>, LHRH or LH caused tachycardia, <span class="disease" id="6350720-5-84-96">hypertension</span> and a reduction in the epinephrine-induced reflex bradycardia. | CTD_human |
2 | 0 | Biomarker | C0011581 | Depressive disorder | disease | depression | 2739 | GLO1 | GLO1 | CTD_human | 22,113,448 | Glyoxylase 1 (GLO1) and guanine nucleotide-binding protein 1 (GNB1) mostly account for baseline anxiety-like and depressive-like behavior, indicating a common biological link between depression and anxiety. | 0.4 | Glyoxylase 1 (<span class="gene" id="22113448-4-14-18">GLO1</span>) and guanine nucleotide-binding protein 1 (GNB1) mostly account for baseline anxiety-like and depressive-like behavior, indicating a common biological link between <span class="disease" id="22113448-4-183-193">depression</span> and anxiety. | CTD_human;PSYGENET |
6 | 0 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | NSCLC | 27436 | EML4 | EML4 | CTD_human | 22,617,245 | We selected NSCLC cell lines--A549 (KRAS G12S), NCI-H3255 (EGFR L858R), NCI-H3122 (EML4-ALK E13;A20), and HCC78 (SLC34A2-ROS1)-to evaluate the antiproliferative effects of submicromolar concentrations of the multitargeted TKIs imatinib, sorafenib, erlotinib, and crizotinib. | 0.236264 | We selected <span class="disease" id="22617245-3-12-17">NSCLC</span> cell lines--A549 (KRAS G12S), NCI-H3255 (EGFR L858R), NCI-H3122 (<span class="gene" id="22617245-3-83-87">EML4</span>-ALK E13;A20), and HCC78 (SLC34A2-ROS1)-to evaluate the antiproliferative effects of submicromolar concentrations of the multitargeted TKIs imatinib, sorafenib, erlotinib, and crizotinib. | CTD_human |
1 | 0 | Biomarker | C0002171 | Alopecia Areata | disease | alopecia areata | 2833 | CXCR3 | Cxcr3 | CTD_human | 22,358,057 | Increased expression of Cxcr3 and its ligands, Cxcl9 and Cxcl10, during the development of alopecia areata in the mouse. | 0.2 | Increased expression of <span class="gene" id="22358057-0-24-29">Cxcr3</span> and its ligands, Cxcl9 and Cxcl10, during the development of <span class="disease" id="22358057-0-91-106">alopecia areata</span> in the mouse. | CTD_human |
null | null | Negative | MESH:D020522 | null | null | mantle cell lymphoma | 6962 | null | TCR | null | 28,053,195 | TCR-transduced T cells efficiently lysed primary B-cell leukemia, mantle cell lymphoma, and multiple myeloma in vitro. | null | null | null |
1 | 0 | Biomarker | C0009324 | Ulcerative Colitis | disease | UC | 7412 | VCAM1 | VCAM-1 | CTD_human | 15,553,846 | The results showed that NF-kappaB DNA binding activity, mRNA and protein expression of ICAM-1 and VCAM-1 were increased significantly in patients with UC, compared with normal control (P<0.05). | 0.2 | The results showed that NF-kappaB DNA binding activity, mRNA and protein expression of ICAM-1 and <span class="gene" id="15553846-9-98-104">VCAM-1</span> were increased significantly in patients with <span class="disease" id="15553846-9-151-153">UC</span>, compared with normal control (P<0.05). | CTD_human |
1 | 0 | Biomarker | C0025202 | melanoma | disease | melanoma | 6490 | PMEL | gp100 | CTD_human | 26,640,592 | Expression of MAAs such as MART-1 and gp100 is modulated by the MAPK signaling pathway, which is often deregulated in melanoma. | 0.238064 | Expression of MAAs such as MART-1 and <span class="gene" id="26640592-2-38-43">gp100</span> is modulated by the MAPK signaling pathway, which is often deregulated in <span class="disease" id="26640592-2-118-126">melanoma</span>. | CTD_human |
null | null | Negative | MESH:D007863 | null | null | PAT | 3630 | null | insulin | null | 28,057,756 | Finally, DHHC7 KO mice developed hyperglycemia and glucose intolerance, thereby confirming that DHHC7 represents the principal PAT for Glut4 and that this mechanism is essential for insulin-regulated glucose homeostasis. | null | null | null |
null | null | Negative | MESH:D009410 | null | null | degeneration of tyrosine hydroxylase | 19255 | null | MPTP | null | 28,178,510 | Macrophage-mediated GDNF treatment dramatically ameliorated MPTP-induced degeneration of tyrosine hydroxylase (TH)-positive neurons of the substantia nigra and TH(+) terminals in the striatum, stimulated axon regeneration, and reversed hypoactivity in the open field test. | null | null | null |
7 | 0 | Biomarker | C0242422 | Parkinsonian Disorders | group | parkinsonism | 5071 | PARK2 | PARK2 | CTD_human | 10,894,217 | A gene for autosomal recessive parkinsonism, PARK2 (parkin), has recently been identified on chromosome 6q and shown to be mutated in Japanese and European families, mostly with early-onset parkinsonism. | 0.4517 | A gene for autosomal recessive parkinsonism, <span class="gene" id="10894217-1-45-50">PARK2</span> (parkin), has recently been identified on chromosome 6q and shown to be mutated in Japanese and European families, mostly with early-onset <span class="disease" id="10894217-1-190-202">parkinsonism</span>. | CTD_human;HPO |
16 | 10 | Biomarker | C2931826 | Potassium aggravated myotonia | disease | Myotonia permanens | 6329 | SCN4A | SCN4A | CTD_human | 16,832,098 | Myotonia permanens is associated with a G1306E mutation in the SCN4A gene. | 0.601648 | <span class="disease" id="16832098-1-0-18">Myotonia permanens</span> is associated with a G1306E mutation in the <span class="gene" id="16832098-1-63-68">SCN4A</span> gene. | CTD_human;ORPHANET;UNIPROT |
2 | 0 | Biomarker | C0017168 | Gastroesophageal reflux disease | disease | GERD | 3576 | CXCL8 | IL-8 | CTD_human | 18,193,101 | Treatment with a proton pump inhibitor, lansoprazole reduces the mucosal levels of IL-8 mRNA and protein in GERD, including RE and NERD. | 0.204656 | Treatment with a proton pump inhibitor, lansoprazole reduces the mucosal levels of <span class="gene" id="18193101-10-83-87">IL-8</span> mRNA and protein in <span class="disease" id="18193101-10-108-112">GERD</span>, including RE and NERD. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 13393 | null | DLX3 | null | 28,186,503 | We have recently shown that the homeobox transcription factor DLX3 and the tumor suppressor p53 co-regulate cell cycle-related signaling and that this mechanism is functionally involved in cutaneous squamous cell carcinoma development. | null | null | null |
1 | 0 | Biomarker | C0041466 | Typhoid Fever | disease | enteric fever | 3123 | HLA-DRB1 | HLA-DRB1 | CTD_human | 25,383,971 | Variation at HLA-DRB1 is associated with resistance to enteric fever. | 0.207771 | Variation at <span class="gene" id="25383971-0-13-21">HLA-DRB1</span> is associated with resistance to <span class="disease" id="25383971-0-55-68">enteric fever</span>. | CTD_human |
8 | 0 | Biomarker | C0040028 | Thrombocythemia, Essential | disease | ET | 3717 | JAK2 | JAK2-V617F | CTD_human | 16,484,586 | The recently discovered single somatic activating point mutation in the JAK2 gene (JAK2-V617F) is found in the great majority of patients with PV, but also in many patients with phenotypically classified ET and other MPDs. | 0.63264 | The recently discovered single somatic activating point mutation in the <span class="gene" id="16484586-3-72-76">JAK2</span> gene (<span class="gene" id="16484586-3-83-93">JAK2-V617F</span>) is found in the great majority of patients with PV, but also in many patients with phenotypically classified <span class="disease" id="16484586-3-204-206">ET</span> and other MPDs. | CTD_human;ORPHANET |
2 | 1 | Biomarker | C0009324 | Ulcerative Colitis | disease | ulcerative colitis | 4485 | MST1 | MST1 | CTD_human | 18,438,406 | We also show that several risk loci are common to ulcerative colitis and Crohn's disease (IL23R, IL12B, HLA, NKX2-3 and MST1), whereas autophagy genes ATG16L1 and IRGM, along with NOD2 (also known as CARD15), are specific for Crohn's disease. | 0.209745 | We also show that several risk loci are common to <span class="disease" id="18438406-2-50-68">ulcerative colitis</span> and Crohn's disease (IL23R, IL12B, HLA, NKX2-3 and <span class="gene" id="18438406-2-120-124">MST1</span>), whereas autophagy genes ATG16L1 and IRGM, along with NOD2 (also known as CARD15), are specific for Crohn's disease. | CTD_human |
null | null | Negative | MESH:C580233 | null | null | LS | 542761 | null | Sh2 | null | 28,174,576 | "True" orthologs of maize Sh2 (AGPase LS) and Bt2 (AGPase SS) were identified in seven other monocots and three dicots; structure of the enzyme at protein level was also studied. | null | null | null |
1 | 0 | Biomarker | C0027092 | Myopia | disease | myopia | 1280 | COL2A1 | COL2A1 | CTD_human | 17,653,045 | SNPs were also analyzed in genes where their expression pattern or their association with syndromes conveys myopia as part of the phenotype (FGF2, BDNF, COL2A1, COL18A1, and PAX6). | 0.405364 | SNPs were also analyzed in genes where their expression pattern or their association with syndromes conveys <span class="disease" id="17653045-8-108-114">myopia</span> as part of the phenotype (FGF2, BDNF, <span class="gene" id="17653045-8-153-159">COL2A1</span>, COL18A1, and PAX6). | CTD_human;HPO |
18 | 0 | Therapeutic | C0025202 | melanoma | disease | MM | 3440 | IFNA2 | IFNalpha | CTD_human | 17,973,783 | Malignant melanoma (MM) patients undergoing phase II-randomized chemoimmunotherapy trials were treated with DTIC, IFNalpha (Hoffmann-La Roche) (group A, n = 31), and with DTIC, IFNalpha and 13-cis-RA (Isotretinoin, Hoffmann-La Roche, Basel, Switzerland) (group B, n = 29). | 0.205429 | <span class="disease" id="17973783-2-0-18">Malignant melanoma</span> (<span class="disease" id="17973783-2-20-22">MM</span>) patients undergoing phase II-randomized chemoimmunotherapy trials were treated with DTIC, <span class="gene" id="17973783-2-114-122">IFNalpha</span> (Hoffmann-La Roche) (group A, n = 31), and with DTIC, <span class="gene" id="17973783-2-177-185">IFNalpha</span> and 13-cis-RA (Isotretinoin, Hoffmann-La Roche, Basel, Switzerland) (group B, n = 29). | CTD_human |
null | null | Negative | MESH:D020258 | null | null | neurotoxic | 156110 | null | Nef | null | 28,079,886 | Next, Nef-carrying EVs were purified from astrocyte cultures and neurotoxic effects on neurons were analyzed. | null | null | null |
null | null | Negative | MESH:D053632 | null | null | decapentaplegic homologue 4 | 17128 | null | Smad4 | null | 28,182,010 | We demonstrated that overexpression of miR-144 significantly decreased the luciferase reporter activity under the control of the cyclooxygenase-2 (COX-2) or mothers against decapentaplegic homologue 4 (Smad4) 3'-untranslated region (3'-UTR) and suppressed COX-2 and Smad4 expression. | null | null | null |
1 | 0 | Biomarker | C0079744 | Diffuse Large B-Cell Lymphoma | disease | DLBCL | 5294 | PIK3CG | PI3K | CTD_human | 21,173,233 | These results demonstrate a critical function of PI3K-PDK1 signaling upstream of MALT1 protease and NF-?B in distinct ABC DLBCL cells and provide a rationale for the pharmacologic use of PI3K inhibitors in DLBCL therapy. | 0.204121 | These results demonstrate a critical function of <span class="gene" id="21173233-6-49-53">PI3K</span>-PDK1 signaling upstream of MALT1 protease and NF-κB in distinct ABC DLBCL cells and provide a rationale for the pharmacologic use of <span class="gene" id="21173233-6-187-191">PI3K</span> inhibitors in <span class="disease" id="21173233-6-206-211">DLBCL</span> therapy. | CTD_human |
5 | 0 | Biomarker | C0004096 | Asthma | disease | asthma | 7124 | TNF | tumor necrosis factor | CTD_human | 14,681,301 | Association of tumor necrosis factor polymorphisms with asthma and serum total IgE. | 0.350679 | Association of <span class="gene" id="14681301-0-15-36">tumor necrosis factor</span> polymorphisms with <span class="disease" id="14681301-0-56-62">asthma</span> and serum total IgE. | CTD_human |
1 | 0 | Biomarker | C0004153 | Atherosclerosis | disease | atherosclerosis | 4048 | LTA4H | LTA4H | CTD_human | 16,698,924 | The abundant expression of LTA4H and correlation with plaque instability identify LTA4H as a potential target for pharmacological intervention in treatment of human atherosclerosis. | 0.202956 | The abundant expression of <span class="gene" id="16698924-9-27-32">LTA4H</span> and correlation with plaque instability identify <span class="gene" id="16698924-9-82-87">LTA4H</span> as a potential target for pharmacological intervention in treatment of human <span class="disease" id="16698924-9-165-180">atherosclerosis</span>. | CTD_human |
1 | 0 | Biomarker | C0014553 | Absence Epilepsy | disease | absence epilepsy | 773 | CACNA1A | Cacna1a | CTD_human | 17,196,942 | Thus, the GRY rat with P/Q-type Ca(2+) channel disorders is a useful model for studying absence epilepsy and Cacna1a-related diseases. | 0.281374 | Thus, the GRY rat with P/Q-type Ca(2+) channel disorders is a useful model for studying <span class="disease" id="17196942-9-88-104">absence epilepsy</span> and <span class="gene" id="17196942-9-109-116">Cacna1a</span>-related diseases. | CTD_human |
null | null | Negative | MESH:D000795 | null | null | alpha-tocopherol | 3479 | null | IGF-I | null | 28,014,639 | This study was designed to investigate whether 9-cis-retinoic acid (9cRA) treatment affects the serum IGF-I/IGFBP-3 and alpha-tocopherol (AT), the most active form of vitamin E. EXPERIMENTAL DESIGN: Individuals (n = 226) who had smoked at least 20 pack-year (PY) and had ceased smoking for at least 12 months were randomly assigned to receive 3 months of daily oral 9cRA (100 mg) or placebo arm. | null | null | null |
null | null | Negative | MESH:D020370 | null | null | primary knee osteoarthritis | 261727 | null | CrCl | null | 28,051,245 | PATIENTS AND METHODS: Ten patients (13 knees) with primary knee osteoarthritis were divided into two groups by creatinine clearance (CrCl) level (intact renal function: CrCl >= 75 mg/mL (four knees); decreased renal function: CrCl <75 mg/mL (nine knees)). | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 644914 | null | p21 | null | 28,045,428 | Although butyrate increased H3 histone deacetylation and p21 tumor suppressor expression in both cell types, p21 protein level was greater with intense expression around the nuclei in HCT116 cells when compared with that in NCM460 cells. | null | null | null |
2 | 0 | Biomarker | C0024121 | Lung Neoplasms | group | lung tumors | 5595 | MAPK3 | Erk 1 | CTD_human | 11,884,234 | Decrease in K-ras p21 and increase in Raf1 and activated Erk 1 and 2 in murine lung tumors initiated by N-nitrosodimethylamine and promoted by 2,3,7,8-tetrachlorodibenzo-p-dioxin. | 0.200549 | Decrease in K-ras p21 and increase in Raf1 and activated <span class="gene" id="11884234-0-57-62">Erk 1</span> and 2 in murine <span class="disease" id="11884234-0-79-90">lung tumors</span> initiated by N-nitrosodimethylamine and promoted by 2,3,7,8-tetrachlorodibenzo-p-dioxin. | CTD_human |
12 | 0 | Biomarker | C0027947 | Neutropenia | disease | neutropenia | 1440 | CSF3 | G-CSF | CTD_human | 9,774,950 | All patients received granulocyte colony-stimulating factor (G-CSF) beginning on the day after paclitaxel and lasting until recovery from neutropenia. | 0.21537 | All patients received <span class="gene" id="9774950-4-22-59">granulocyte colony-stimulating factor</span> (<span class="gene" id="9774950-4-61-66">G-CSF</span>) beginning on the day after paclitaxel and lasting until recovery from <span class="disease" id="9774950-4-138-149">neutropenia</span>. | CTD_human |
3 | 0 | Biomarker | C0878681 | Dent's disease | disease | Dent's disease | 1184 | CLCN5 | CLC-5 | CTD_human | 10,561,751 | Thus, mutations that result in a loss of function of the voltage-gated chloride channel, CLC-5, are associated with Dent's disease, which is characterized by low-molecular weight proteinuria, hypercalciuria, nephrolithiasis, and renal failure. | 0.220264 | Thus, mutations that result in a loss of function of the voltage-gated chloride channel, <span class="gene" id="10561751-2-89-94">CLC-5</span>, are associated with <span class="disease" id="10561751-2-116-130">Dent's disease</span>, which is characterized by low-molecular weight proteinuria, hypercalciuria, nephrolithiasis, and renal failure. | CTD_human |
1 | 0 | Therapeutic | C0011881 | Diabetic Nephropathy | disease | diabetic nephropathy | 4780 | NFE2L2 | Nrf2 | CTD_human | 20,103,708 | The protective role of Nrf2 in streptozotocin-induced diabetic nephropathy. | 0.281923 | The protective role of <span class="gene" id="20103708-0-23-27">Nrf2</span> in streptozotocin-induced <span class="disease" id="20103708-0-54-74">diabetic nephropathy</span>. | CTD_human |