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2 | 0 | Biomarker | C0024121 | Lung Neoplasms | group | lung tumors | 2697 | GJA1 | Cx43 | CTD_human | 16,926,031 | These results may indicate a role of Cx32 and Cx43 in urethane-induced lung carcinogenesis, since their absence may contribute to the development of urethane induced lung tumors. | 0.203008 | These results may indicate a role of Cx32 and <span class="gene" id="16926031-13-46-50">Cx43</span> in urethane-induced lung carcinogenesis, since their absence may contribute to the development of urethane induced <span class="disease" id="16926031-13-166-177">lung tumors</span>. | CTD_human |
null | null | Negative | MESH:D009203 | null | null | post-MI | 24224 | null | Bcl-2 | null | 28,181,211 | Hypertrophic parameters, left ventricular (LV) remodelling, and gene expression of Apel, apelin receptor (Apelr), Bax, caspase-3 (Casp-3), and Bcl-2 by real-time polymerase chain reaction and cardiomyocytes apoptosis by TUNEL immunostaining were assessed on day 14 post-MI. | null | null | null |
null | null | Negative | MESH:D040181 | null | null | X-linked syndrome | 546 | null | ATRX | null | 28,062,559 | We place emphasis on the chromatin remodeler ATRX, which is mutated in the developmental disorder for which it is named, a-thalassemia, mental retardation, X-linked syndrome, and at high frequency in a number of adult and pediatric tumors. | null | null | null |
1 | 1 | Biomarker | C0149931 | Migraine Disorders | group | migraine | 4035 | LRP1 | LRP1 | CTD_human | 21,666,692 | TRPM8 has been the focus of neuropathic pain models, whereas LRP1 modulates neuronal glutamate signaling, plausibly linking both genes to migraine pathophysiology. | 0.201648 | TRPM8 has been the focus of neuropathic pain models, whereas <span class="gene" id="21666692-7-61-65">LRP1</span> modulates neuronal glutamate signaling, plausibly linking both genes to <span class="disease" id="21666692-7-138-146">migraine</span> pathophysiology. | CTD_human |
3 | 0 | Biomarker | C0002878 | Anemia, Hemolytic | disease | hemolytic anemia | 2539 | G6PD | G6PD | CTD_human | 4,794,122 | [Acute kidney failure and hemolytic anemia caused by erythrocytic G6PD dificit revealed by chloroquine administration]. | 0.22187 | [Acute kidney failure and <span class="disease" id="4794122-0-26-42">hemolytic anemia</span> caused by erythrocytic <span class="gene" id="4794122-0-66-70">G6PD</span> dificit revealed by chloroquine administration]. | CTD_human |
null | null | Negative | OMIM:168600 | null | null | PD | 7124 | null | hTNF | null | 28,020,369 | METHODS: SCLC pts relapsing after a platinum-based regimen received every 3 weeks NGR-hTNF until progression (PD), while D dose was capped at 550 mg/m(2). | null | null | null |
null | null | Negative | MESH:D020295 | null | null | stemness | 100846986 | null | OCT4 | null | 28,033,430 | The up-regulation of LGR5 was also positively associated with stemness regulators (NANOG, OCT4, SOX2, and AICDA) and EMT inducers (PRRX1, TWIST1, and BMI1). | null | null | null |
1 | 0 | Biomarker | C0020456 | Hyperglycemia | disease | hyperglycemia | 5743 | PTGS2 | COX-2 | CTD_human | 14,514,642 | Our results suggest that hyperglycemia increases mitochondrial ROS production, resulting in NF-kappaB activation, COX-2 mRNA induction, COX-2 protein production, and PGE2 synthesis. | 0.206015 | Our results suggest that <span class="disease" id="14514642-7-25-38">hyperglycemia</span> increases mitochondrial ROS production, resulting in NF-kappaB activation, <span class="gene" id="14514642-7-114-119">COX-2</span> mRNA induction, <span class="gene" id="14514642-7-136-141">COX-2</span> protein production, and PGE2 synthesis. | CTD_human |
1 | 0 | Biomarker | C0038220 | Status Epilepticus | disease | SE | 55163 | PNPO | PNPO | CTD_human | 19,356,691 | Linear regression analysis identified a direct proportional relationship between PLK/PNPO immunoreactivity and normalized population spike amplitude ratio in the dentate gyrus and the CA1 region as excluded the data obtained from 4 weeks after SE. | 0.2 | Linear regression analysis identified a direct proportional relationship between PLK/<span class="gene" id="19356691-4-85-89">PNPO</span> immunoreactivity and normalized population spike amplitude ratio in the dentate gyrus and the CA1 region as excluded the data obtained from 4 weeks after <span class="disease" id="19356691-4-244-246">SE</span>. | CTD_human |
null | null | Negative | MESH:D008288 | null | null | malaria | 20390 | null | surfactant protein-D | null | 28,127,335 | BACKGROUND: We aimed to reveal the role of CD11b and hypoxia-inducible factors-1alpha (HIF-1a) expressions on monocytes and alveolar macrophages of lung tissue, and the levels of serum surfactant protein-D (SP-D) in severe malaria-associated acute lung injury (ALI). | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumour | 481689 | null | Tenascin C | null | 28,074,628 | UNASSIGNED: In breast cancer research S100A4-positive tumour-associated stromal cells are assumed as primary source of Tenascin C (TNC) in the metastatic environment. | null | null | null |
null | null | Negative | MESH:C536962 | null | null | TS | 9429 | null | ABCG2 | null | 28,022,460 | The genes studied were Kras, PIK3CA, PTEN, ERCC1, ERCC2/XPD, p53, MLH1, MSH2, MGMT, XRCC1, VEGF, FCGR3A, ABCG2, ABCB1, GSTP1, CCND1, MTHFR, TS and DPD. | null | null | null |
null | null | Negative | MESH:D015430 | null | null | weight gain | 25703 | null | retinol binding protein 4 | null | 28,109,299 | RESULTS: The dams and offsprings of the GBR and OE groups had lower weight gain, glycemic response, 8-Iso prostaglandin, retinol binding protein 4 and fasting insulin, and elevated adiponectin levels compared with the HFD group. | null | null | null |
1 | 0 | Biomarker | C0036341 | Schizophrenia | disease | schizophrenia | 8787 | RGS9 | RGS9 | CTD_human | 17,318,883 | Consistent with dopamine supersensitivity, RGS9 expression is diminished in the amphetamine-treated animal model of schizophrenia and in postmortem schizophrenia brain. | 0.203231 | Consistent with dopamine supersensitivity, <span class="gene" id="17318883-0-43-47">RGS9</span> expression is diminished in the amphetamine-treated animal model of <span class="disease" id="17318883-0-116-129">schizophrenia</span> and in postmortem <span class="disease" id="17318883-0-148-161">schizophrenia</span> brain. | CTD_human |
null | null | Negative | MESH:D007511 | null | null | ischemia | 103213 | null | TRAF3IP2 | null | 28,053,087 | Here we investigated the role of TRAF3IP2 in ischemia/reperfusion (I/R)-induced nitroxidative stress, inflammation, myocardial dysfunction, injury, and adverse remodeling. | null | null | null |
null | null | Negative | MESH:D007340 | null | null | insulinomas | 2740 | null | glucagon-like peptide-1 receptor | null | 28,089,587 | Recent studies have reported the frequent overexpression of glucagon-like peptide-1 receptor (GLP-1R) in human insulinomas, suggesting that the binding of a radiolabeled compound to GLP-1R is useful for the imaging of such tumors. | null | null | null |
1 | 0 | Biomarker | C2936777 | Nevo syndrome (disorder) | disease | Nevo syndrome | 5351 | PLOD1 | PLOD1 | CTD_human | 15,666,309 | Because some of these patients present clinical features similar to those of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA), an inherited connective tissue disorder characterized by a deficiency of lysyl hydroxylase due to mutations in PLOD1, we studied seven patients with Nevo syndrome, three of whom have previously been reported, and four of whom are new. | 0.2 | Because some of these patients present clinical features similar to those of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA), an inherited connective tissue disorder characterized by a deficiency of lysyl hydroxylase due to mutations in <span class="gene" id="15666309-4-249-254">PLOD1</span>, we studied seven patients with <span class="disease" id="15666309-4-287-300">Nevo syndrome</span>, three of whom have previously been reported, and four of whom are new. | CTD_human |
1 | 0 | Biomarker | C0002395 | Alzheimer's Disease | disease | AD | 23237 | ARC | Arc | CTD_human | 18,503,570 | Finally, we showed that Arc levels are decreased in the cortex of AD brains. | 0.200549 | Finally, we showed that <span class="gene" id="18503570-9-24-27">Arc</span> levels are decreased in the cortex of <span class="disease" id="18503570-9-66-68">AD</span> brains. | CTD_human |
34 | 131 | Therapeutic | C0017921 | Glycogen storage disease type II | disease | GSD II | 2548 | GAA | GAA | CTD_human | 18,176,891 | Glycogen storage disease type II (GSD II) is an autosomal recessive deficiency of acidalpha-1,4-glucosidase(GAA) caused by mutations in the GAA gene located on human chromosome 17 (17q 25.2-q 25.3). | 0.55161 | <span class="disease" id="18176891-1-0-32">Glycogen storage disease type II</span> (<span class="disease" id="18176891-1-34-40">GSD II</span>) is an autosomal recessive deficiency of acidalpha-1,4-glucosidase(GAA) caused by mutations in the <span class="gene" id="18176891-1-140-143">GAA</span> gene located on human chromosome 17 (17q 25.2-q 25.3). | CTD_human;UNIPROT |
null | null | Negative | MESH:D015458 | null | null | Laukkala T | 34245 | null | Bor R | null | 28,061,921 | This study suggests that the demarcation of psychiatric disorder related to fitness to fly is an important step in safety.Vuorio A, Laukkala T, Navathe P, Budowle B, Bor R, Sajantila A. Bipolar disorder in aviation medicine. | null | null | null |
1 | 0 | Biomarker | C0009324 | Ulcerative Colitis | disease | ulcerative colitis | 3123 | HLA-DRB1 | HLA-DRB1 | CTD_human | 25,559,196 | High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis. | 0.269149 | High-density mapping of the MHC identifies a shared role for <span class="gene" id="25559196-0-61-69">HLA-DRB1</span>*01:03 in inflammatory bowel diseases and heterozygous advantage in <span class="disease" id="25559196-0-137-155">ulcerative colitis</span>. | CTD_human |
null | null | Negative | MESH:D018908 | null | null | muscle weakness | 2489 | null | FSHD | null | 28,161,093 | With the typical late onset of muscle weakness, prevalence of asymptomatic individuals, and an autosomal dominant mode of inheritance, FSHD is often passed on from one generation to the next and affects multiple individuals within a family. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 22060 | null | p53 | null | 28,142,439 | This includes loss-of-function mutations in the tumor suppressor p53 and activating mutations in multiple growth factor receptors, which converge to activate PI3K/Akt pathway. | null | null | null |
1 | 0 | Biomarker | C0013080 | Down Syndrome | disease | DS | 7001 | PRDX2 | thioredoxin peroxidase-I | CTD_human | 11,771,762 | By contrast, a significant reduction was observed in levels of glutathione synthetase (P < 0.01), glutathione-S-transferase mu2 (P < 0.01), glutathione-S-transferase p (P < 0.05), antioxidant protein 2 (P < 0.05), thioredoxin peroxidase-I (P < 0.05) and thioredoxin peroxidase-II (P < 0.01) in DS compared with controls. | 0.208748 | By contrast, a significant reduction was observed in levels of glutathione synthetase (P < 0.01), glutathione-S-transferase mu2 (P < 0.01), glutathione-S-transferase p (P < 0.05), antioxidant protein 2 (P < 0.05), <span class="gene" id="11771762-9-214-238">thioredoxin peroxidase-I</span> (P < 0.05) and thioredoxin peroxidase-II (P < 0.01) in <span class="disease" id="11771762-9-294-296">DS</span> compared with controls. | CTD_human |
1 | 0 | Biomarker | C0017638 | Glioma | disease | glioma | 5347 | PLK1 | PLK1 | CTD_human | 22,000,864 | Thus, the status of PLK1 mRNA expression might be an independent prognostic factor for glioma patients and targeting PLK1 could be a novel strategy for chemo- or radiosensitization of human malignant gliomas. | 0.200824 | Thus, the status of <span class="gene" id="22000864-14-20-24">PLK1</span> mRNA expression might be an independent prognostic factor for <span class="disease" id="22000864-14-87-93">glioma</span> patients and targeting <span class="gene" id="22000864-14-117-121">PLK1</span> could be a novel strategy for chemo- or radiosensitization of human malignant gliomas. | CTD_human |
null | null | Negative | MESH:D009362 | null | null | metastasis | 619501 | null | HCC | null | 28,045,618 | No guidelines for the brain metastasis of HCC have been developed to date due to the shortage of the experiences and evidences. | null | null | null |
null | null | Negative | MESH:D056486 | null | null | hepatic inflammation | 84024 | null | PON1 | null | 28,103,386 | CONCLUSIONS: Immune responses mounted against T. spiralis infection in rats were associated with hepatic inflammation and a subsequent decrease in serum PON1 and BuChE activities. | null | null | null |
1 | 0 | Biomarker | C0041408 | Turner Syndrome | disease | Turner's syndrome | 6647 | SOD1 | SOD | CTD_human | 25,101,153 | There was an increase in Mn- and Cu-Zn-SOD activity in SAH, MV, M, and Turner's syndrome. | 0.200275 | There was an increase in Mn- and Cu-Zn-<span class="gene" id="25101153-4-39-42">SOD</span> activity in SAH, MV, M, and <span class="disease" id="25101153-4-71-88">Turner's syndrome</span>. | CTD_human |
null | null | Negative | MESH:D017827 | null | null | type | 3630 | null | insulin | null | 28,139,158 | We recruited patients with type 2 diabetes who were at the point of making a decision about starting insulin from a tertiary teaching hospital in Malaysia in 2014. | null | null | null |
3 | 0 | Biomarker | C0220994 | Hyperammonemia | phenotype | hyperammonemia | 162417 | NAGS | N-acetylglutamate synthase | CTD_human | 12,594,532 | Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. | 0.202198 | Null mutations in the <span class="gene" id="12594532-0-22-48">N-acetylglutamate synthase</span> gene associated with acute neonatal disease and <span class="disease" id="12594532-0-97-111">hyperammonemia</span>. | CTD_human |
null | null | Negative | MESH:D065290 | null | null | ACLF | 56938 | null | CLIF | null | 28,195,876 | AIM: The CANONIC study proposed the Chronic Liver Failure Consortium acute-on-chronic liver failure (CLIF-C ACLF) prognostic model at the European Association for the Study of the Liver-CLIF diagnosis. | null | null | null |
null | null | Negative | MESH:D056486 | null | null | hepatocellular injury | 18024 | null | Nrf2 | null | 28,074,186 | At the molecular level, various mechanisms may protect or harm the liver during drug-induced hepatocellular injury including signaling pathways and endogenous factors (e.g., Bcl-2, GSH, Nrf2, or MAPK). | null | null | null |
null | null | Negative | MESH:C562593 | null | null | XPG | 2067 | null | ERCC1 | null | 28,021,525 | Tissue samples from 44 pts were collected for RNA expression analysis (XPG, ERCC1, BRCA1). | null | null | null |
1 | 5 | Biomarker | C0158683 | Polycystic liver disease | disease | polycystic liver disease | 11231 | SEC63 | SEC63 | CTD_human | 21,685,914 | Autosomal dominant polycystic liver disease results from mutations in PRKCSH or SEC63. | 0.603022 | Autosomal dominant <span class="disease" id="21685914-1-19-43">polycystic liver disease</span> results from mutations in PRKCSH or <span class="gene" id="21685914-1-80-85">SEC63</span>. | CTD_human;HPO;ORPHANET |
null | null | Negative | MESH:D014388 | null | null | lymph node metastasis | 406892 | null | miR-100 | null | 28,032,929 | The Ingenuity Pathway Analysis, TargetScan software analyses, and subsequent verification of mRNA expression by real-time PCR identified mammalian target of rapamycin (mTOR) and insulin-like growth factor 1 receptor (IGF1R) as direct, and Fas and X-linked inhibitor-of-apoptosis protein (XIAP) as indirect candidate targets for miR-100 involved in lymph node metastasis. | null | null | null |
null | null | Negative | MESH:C563476 | null | null | proteinopathies | 23435 | null | TDP-43 | null | 28,062,563 | The most common neurodegenerative disorders are amyloidoses, tauopathies, a-synucleinopathies, and TDP-43 proteinopathies. | null | null | null |
null | null | Negative | MESH:D016773 | null | null | cutaneous leishmaniasis | 16176 | null | IL-1b | null | 28,192,528 | Using murine models of inflammation induced by the protozoan parasite leishmania, and data obtained from patients with cutaneous leishmaniasis, we uncovered a previously unrecognized role for NLRP3 inflammasome activation and IL-1b release as a detrimental consequence of CD8+ T cell-mediated cytotoxicity, ultimately resulting in chronic inflammation. | null | null | null |
null | null | Negative | MESH:D001913 | null | null | Bowen disease | 6317 | null | SCC | null | 28,007,674 | Different diagnostic RCM features have been described for AK, actinic cheilitis (AC), erythroplasia of Queyrat, Bowen disease, invasive SCC, and keratoacanthoma (KA). | null | null | null |
null | null | Negative | MESH:C535533 | null | null | ICC | 7431 | null | vimentin | null | 28,096,273 | Mechanistically, inhibition of mortalin expression in ICC cells upregulated E-cadherin expression and decreased vimentin and snail expression. | null | null | null |
1 | 0 | Biomarker | C0018816 | Heart Septal Defects | group | septal defects | 10370 | CITED2 | CITED2 | CTD_human | 16,287,139 | In summary, the observation of these mutations in patients with septal defects indicates that CITED2 has a causative impact in the development of CHD in humans. | 0.200275 | In summary, the observation of these mutations in patients with <span class="disease" id="16287139-10-64-78">septal defects</span> indicates that <span class="gene" id="16287139-10-94-100">CITED2</span> has a causative impact in the development of CHD in humans. | CTD_human |
1 | 0 | Biomarker | C0017636 | Glioblastoma | disease | glioblastoma | 2195 | FAT1 | FAT1 | CTD_human | 23,354,438 | Here, we report recurrent somatic mutations of the Drosophila melanogaster tumor suppressor-related gene FAT1 in glioblastoma (20.5%), colorectal cancer (7.7%), and head and neck cancer (6.7%). | 0.200275 | Here, we report recurrent somatic mutations of the Drosophila melanogaster tumor suppressor-related gene <span class="gene" id="23354438-3-105-109">FAT1</span> in <span class="disease" id="23354438-3-113-125">glioblastoma</span> (20.5%), colorectal cancer (7.7%), and head and neck cancer (6.7%). | CTD_human |
null | null | Negative | MESH:D012769 | null | null | HSPs | 415995 | null | Selk | null | 28,190,185 | Se deficiency led to decreased selenoproteins (Gpx1, Selk, and Selh) and HSPs (HSP40, HSP60, and HSP90) (P < 0.05). | null | null | null |
null | null | Negative | MESH:D008171 | null | null | lung disease | 15251 | null | HIF-1a | null | 28,150,141 | Moreover, increased HIF-1a levels in SHS-exposed mice lungs points towards a novel mechanism for SHS-induced lung disease initiation in the pediatric population. | null | null | null |
null | null | Negative | MESH:D020295 | null | null | stemness | 22160 | null | TWIST1 | null | 28,033,430 | The up-regulation of LGR5 was also positively associated with stemness regulators (NANOG, OCT4, SOX2, and AICDA) and EMT inducers (PRRX1, TWIST1, and BMI1). | null | null | null |
2 | 0 | Biomarker | C0010068 | Coronary heart disease | disease | coronary heart disease | 5444 | PON1 | PON1 | CTD_human | 16,353,344 | The discovery that PON1 can also metabolize oxidized phospholipids has spurred research on its possible role in coronary heart disease and atherosclerosis. | 0.275697 | The discovery that <span class="gene" id="16353344-2-19-23">PON1</span> can also metabolize oxidized phospholipids has spurred research on its possible role in <span class="disease" id="16353344-2-112-134">coronary heart disease</span> and atherosclerosis. | CTD_human |
6 | 0 | Biomarker | C0036572 | Seizures | phenotype | convulsion | 5020 | OXT | oxytocin | CTD_human | 644,406 | A generalized epileptiform convulsion after intra-amniotic prostaglandin with intravenous oxytocin infusion: a case report. | 0.2 | A generalized epileptiform <span class="disease" id="644406-0-27-37">convulsion</span> after intra-amniotic prostaglandin with intravenous <span class="gene" id="644406-0-90-98">oxytocin</span> infusion: a case report. | CTD_human |
null | null | Negative | MESH:D002813 | null | null | chondrosarcoma | 50689;116590 | null | ERK1/2 | null | 28,057,484 | Although FGF2 stimulation induced the phosphorylation of ERK1/2, MEK1/2, and Raf-1 at Ser-338 in rat chondrosarcoma cells, pretreatment with a cell-permeable cGMP analog strongly inhibited their phosphorylation. | null | null | null |
null | null | Negative | MESH:D005355 | null | null | fibrosis | 85272 | null | BMP-7 | null | 28,062,213 | Histopathological results showed that BMP-7-BMSCs could remarkably block the progression of silica-induced fibrosis. | null | null | null |
4 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 3291 | HSD11B2 | 11 beta HSD | CTD_human | 7,670,488 | The syndrome of apparent mineralocorticoid excess (AME) is an inherited form of human hypertension thought to result from a deficiency of 11 beta-hydroxysteroid dehydrogenase (11 beta HSD). | 0.442052 | The syndrome of apparent mineralocorticoid excess (AME) is an inherited form of human <span class="disease" id="7670488-1-86-98">hypertension</span> thought to result from a deficiency of 11 beta-hydroxysteroid dehydrogenase (<span class="gene" id="7670488-1-176-187">11 beta HSD</span>). | CTD_human;HPO |
1 | 0 | Biomarker | C0007137 | Squamous cell carcinoma | disease | squamous cell carcinoma | 8202 | NCOA3 | SRC-3 | CTD_human | 20,852,035 | This SRC-3 overexpression frequency was similar to the overexpression frequency observed for squamous cell carcinoma and adenocarcinoma (82.1% vs 90%) and for metastasis and non-metastasis patients (84.6% vs 85.7%). | 0.203008 | This <span class="gene" id="20852035-6-5-10">SRC-3</span> overexpression frequency was similar to the overexpression frequency observed for <span class="disease" id="20852035-6-93-116">squamous cell carcinoma</span> and adenocarcinoma (82.1% vs 90%) and for metastasis and non-metastasis patients (84.6% vs 85.7%). | CTD_human |
null | null | Negative | MESH:D007674 | null | null | nephropathy | 60498 | null | IgAN | null | 28,159,829 | IgA nephropathy (IgAN) is a leading cause of CKD and renal failure. | null | null | null |
1 | 0 | Therapeutic | C0014544 | Epilepsy | disease | epilepsy | 5443 | POMC | ACTH | CTD_human | 20,708,863 | ACTH therapy successfully controlled epilepsy and electroencephalograms were normalized. | 0.200549 | <span class="gene" id="20708863-3-0-4">ACTH</span> therapy successfully controlled <span class="disease" id="20708863-3-37-45">epilepsy</span> and electroencephalograms were normalized. | CTD_human |
2 | 7 | Biomarker | C0024141 | Lupus Erythematosus, Systemic | disease | systemic lupus erythematosus | 3684 | ITGAM | ITGAM | CTD_human | 18,204,448 | A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus. | 0.230506 | A nonsynonymous functional variant in <span class="gene" id="18204448-0-38-54">integrin-alpha(M</span>) (encoded by <span class="gene" id="18204448-0-68-73">ITGAM</span>) is associated with <span class="disease" id="18204448-0-94-122">systemic lupus erythematosus</span>. | CTD_human |
null | null | Negative | MESH:D005355 | null | null | fibrosis | 22418 | null | WNT-5A | null | 28,057,611 | Previous studies pointed to a connection between WNT-5A and the fibrogenic factor TGF-b warranting further studies into the functional role of WNT-5A in liver fibrosis. | null | null | null |
null | null | Negative | MESH:D015212 | null | null | inflammatory bowel disease | 27178 | null | Interleukin-23 | null | 28,100,093 | Interleukin-23 (IL-23), a heterodimeric cytokine of covalently bound p19 and p40 proteins, has recently been closely associated with development of several chronic autoimmune diseases such as psoriasis, psoriatic arthritis or inflammatory bowel disease. | null | null | null |
null | null | Negative | MESH:D002318 | null | null | cardiovascular disease | 12389 | null | CAV1 | null | 28,130,355 | These results point to intestinal epithelial cell CAV1 as a potential therapeutic target to lower circulating FFAs and LDL cholesterol, as high levels are associated with development of type II diabetes and cardiovascular disease. | null | null | null |
null | null | Negative | MESH:D020258 | null | null | neurotoxicity | 50672 | null | ET-B | null | 28,179,472 | These findings suggest that endothelin exerts ET-B receptor-dependent favorable redox and neuroprotective effects against high glucose-evoked oxidative damage and neurotoxicity. | null | null | null |
null | null | Negative | MESH:C567932 | null | null | OS | 6657 | null | SOX2 | null | 28,157,523 | Here, we show that the lentiviral expression of OCT4 together with SOX2 (OS) driven by a strong spleen focus-forming virus (SFFV) promoter in a single vector can convert 2% of CB CD34(+) cells into iPSCs without additional reprogramming factors. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumors | 672;675 | null | BRCA1/2 | null | 28,021,792 | This subgroup is enriched for BRCA1/2 mutant tumors and demonstrates sensitivity to DNA-damaging agents. | null | null | null |
null | null | Negative | MESH:D000860 | null | null | hypoxia | 22417 | null | Wnt4 | null | 28,178,511 | Furthermore, suppression of Wnt4 expression in HypMSC, abrogated the hypoxia-induced vascular regenerative properties of these cells in the mouse hindlimb ischemia model. | null | null | null |
1 | 0 | Biomarker | C3463824 | MYELODYSPLASTIC SYNDROME | group | myelodysplastic syndrome | 4066 | LYL1 | LYL1 | CTD_human | 16,094,422 | Using real-time quantitative RT-PCR assay, we found that the expression of LYL1 was at higher levels in the majority cases of acute myeloblastic leukemia (AML) or myelodysplastic syndrome when compared to normal bone marrow. | 0.200275 | Using real-time quantitative RT-PCR assay, we found that the expression of <span class="gene" id="16094422-2-75-79">LYL1</span> was at higher levels in the majority cases of acute myeloblastic leukemia (AML) or <span class="disease" id="16094422-2-163-187">myelodysplastic syndrome</span> when compared to normal bone marrow. | CTD_human |
null | null | Negative | MESH:D007951 | null | null | myeloid leukemia | 21947 | null | CD40L | null | 28,192,408 | Pro-survival proteins B-cell lymphoma-extra large (BCL-XL), BCL-2-related protein A1 (BFL-1) and myeloid leukemia cell differentiation protein 1 (MCL-1) are upregulated by LN-residing T cells through CD40L interaction, presumably via nuclear factor (NF)-kB signaling. | null | null | null |
null | null | Negative | MESH:D015658 | null | null | AAV | 16000 | null | IGF-1 | null | 28,108,397 | Despite Kaspar and colleagues have showed that AAV-IGF1 delivery successfully prolonged the survival of SOD1G93A mice, whether IGF-1 act as a protective role in the TDP-43 mutant model still have not been reported. | null | null | null |
4 | 0 | Biomarker | C0004096 | Asthma | disease | asthma | 90865 | IL33 | IL33 | CTD_human | 24,241,537 | Four of these, GSDMB, IL33, RAD50 and IL1RL1, were previously reported as asthma susceptibility loci, but the effect sizes for these loci in our cohort were considerably larger than in the previous genome-wide association studies of asthma. | 0.216837 | Four of these, GSDMB, <span class="gene" id="24241537-5-22-26">IL33</span>, RAD50 and IL1RL1, were previously reported as <span class="disease" id="24241537-5-74-80">asthma</span> susceptibility loci, but the effect sizes for these loci in our cohort were considerably larger than in the previous genome-wide association studies of <span class="disease" id="24241537-5-233-239">asthma</span>. | CTD_human |
null | null | Negative | MESH:C566236 | null | null | AA | 4160 | null | MC4R | null | 28,150,230 | The MC4R rs489693 AA genotype was significantly associated with a shorter PFS and OS. | null | null | null |
1 | 0 | Biomarker | C0033860 | Psoriasis | disease | psoriasis | 1401 | CRP | CRP | CTD_human | 12,559,600 | The mean levels of atherogenic lipids (total cholesterol [TC], triacylglycerol [TG] and LDL cholesterol [LDL-C]), acute-phase reactants (CRP, ESR, PMNLs, ceruloplasmin and fibrinogen) and lipid peroxidation products, AuAb-oxLDL levels in patients with psoriasis were found to be significantly higher than those of healthy subjects. | 0.201374 | The mean levels of atherogenic lipids (total cholesterol [TC], triacylglycerol [TG] and LDL cholesterol [LDL-C]), acute-phase reactants (<span class="gene" id="12559600-6-137-140">CRP</span>, ESR, PMNLs, ceruloplasmin and fibrinogen) and lipid peroxidation products, AuAb-oxLDL levels in patients with <span class="disease" id="12559600-6-252-261">psoriasis</span> were found to be significantly higher than those of healthy subjects. | CTD_human |
null | null | Negative | MESH:D014947 | null | null | trauma | 309626 | null | RING1 | null | 28,032,293 | RING1 protein level detected by western blot peaked at day 3 after trauma and then decreased gradually. | null | null | null |
29 | 28 | Biomarker | C0018553 | Hamartoma Syndrome, Multiple | disease | Cowden disease | 5728 | PTEN | PTEN | CTD_human | 9,286,463 | Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. | 0.767443 | Deletion of <span class="gene" id="9286463-0-12-16">PTEN</span> in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with <span class="disease" id="9286463-0-92-106">Cowden disease</span>. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C0524851 | Neurodegenerative Disorders | group | neurodegenerative disease | 9118 | INA | ?-internexin | CTD_human | 22,430,071 | After validation by Western blot and quantitative real-time PCR, the expressions of three proteins related to neurodegenerative disease, septin 5, ?-internexin, and ?-synuclein, were identified to be altered by MCLR exposure. | 0.2 | After validation by Western blot and quantitative real-time PCR, the expressions of three proteins related to <span class="disease" id="22430071-4-110-135">neurodegenerative disease</span>, septin 5, <span class="gene" id="22430071-4-147-159">α-internexin</span>, and α-synuclein, were identified to be altered by MCLR exposure. | CTD_human |
3 | 1 | Biomarker | C1275808 | Congenital central hypoventilation | disease | congenital central hypoventilation syndrome | 8929 | PHOX2B | PHOX2B | CTD_human | 12,640,453 | Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. | 0.710364 | Polyalanine expansion and frameshift mutations of the paired-like homeobox gene <span class="gene" id="12640453-0-80-86">PHOX2B</span> in <span class="disease" id="12640453-0-90-133">congenital central hypoventilation syndrome</span>. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D017204 | null | null | AS | 6899 | null | TGA | null | 28,191,249 | In Australia comprehensive standards for reprocessing of ultrasound probes are based on the AS/NZS, TGA and ASUM recommendations. | null | null | null |
null | null | Negative | MESH:D008527 | null | null | medulloblastoma | 6500 | null | Skp1 | null | 28,197,531 | Here, we summarize our findings of targeted SOX9 destruction by SCF(FBW7) (Skp1/Cul1/F-box) in medulloblastoma and its potential for therapeutic intervention. | null | null | null |
null | null | Negative | MESH:D009410 | null | null | axonal degeneration | 11820 | null | Amyloid precursor protein | null | 28,008,944 | UNASSIGNED: Amyloid precursor protein (APP), commonly associated with Alzheimer's disease, also marks axonal degeneration. | null | null | null |
1 | 4 | Biomarker | C0004096 | Asthma | disease | asthma | 55876 | GSDMB | GSDMB | CTD_human | 24,241,537 | Four of these, GSDMB, IL33, RAD50 and IL1RL1, were previously reported as asthma susceptibility loci, but the effect sizes for these loci in our cohort were considerably larger than in the previous genome-wide association studies of asthma. | 0.215397 | Four of these, <span class="gene" id="24241537-5-15-20">GSDMB</span>, IL33, RAD50 and IL1RL1, were previously reported as <span class="disease" id="24241537-5-74-80">asthma</span> susceptibility loci, but the effect sizes for these loci in our cohort were considerably larger than in the previous genome-wide association studies of <span class="disease" id="24241537-5-233-239">asthma</span>. | CTD_human |
6 | 0 | Biomarker | C0002736 | Amyotrophic Lateral Sclerosis | disease | amyotrophic lateral sclerosis | 23435 | TARDBP | TARDBP | CTD_human | 18,372,902 | TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. | 0.74025 | <span class="gene" id="18372902-0-0-6">TARDBP</span> mutations in individuals with sporadic and familial <span class="disease" id="18372902-0-59-88">amyotrophic lateral sclerosis</span>. | CTD_human;HPO;ORPHANET |
16 | 285 | Biomarker | C0013264 | Muscular Dystrophy, Duchenne | disease | DMD | 1756 | DMD | dystrophin | CTD_human | 21,273,767 | In a 24-year-old male with DMD due to the point mutation c.4213C>T (p.Gln1405X) in exon 30 of the dystrophin gene, cardiologic examination at the age of 23 years revealed asymptomatic severely reduced systolic dysfunction with a fractional shortening of 14% in the absence of dilated cardiomyopathy. | 0.85109 | In a 24-year-old male with <span class="disease" id="21273767-2-27-30">DMD</span> due to the point mutation c.4213C>T (p.Gln1405X) in exon 30 of the <span class="gene" id="21273767-2-98-108">dystrophin</span> gene, cardiologic examination at the age of 23 years revealed asymptomatic severely reduced systolic dysfunction with a fractional shortening of 14% in the absence of dilated cardiomyopathy. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C0079773 | Lymphoma, T-Cell, Cutaneous | disease | CTCL | 581 | BAX | Bax | CTD_human | 12,754,746 | The Bcl-x, Mcl-1, Bad, and Bax proteins were also expressed in all CTCL skin lesions tested. | 0.200275 | The Bcl-x, Mcl-1, Bad, and <span class="gene" id="12754746-6-27-30">Bax</span> proteins were also expressed in all <span class="disease" id="12754746-6-67-71">CTCL</span> skin lesions tested. | CTD_human |
1 | 0 | Biomarker | C0036920 | Sezary Syndrome | disease | Sézary syndrome | 5728 | PTEN | PTEN | CTD_human | 26,551,667 | These analyses identified a distinctive pattern of somatic copy number alterations in Sézary syndrome, including highly prevalent chromosomal deletions involving the TP53, RB1, PTEN, DNMT3A and CDKN1B tumor suppressors. | 0.200275 | These analyses identified a distinctive pattern of somatic copy number alterations in <span class="disease" id="26551667-3-86-101">Sézary syndrome</span>, including highly prevalent chromosomal deletions involving the TP53, RB1, <span class="gene" id="26551667-3-177-181">PTEN</span>, DNMT3A and CDKN1B tumor suppressors. | CTD_human |
null | null | Negative | MESH:D003147 | null | null | community-acquired pneumonia | 3620 | null | IDO | null | 28,076,309 | We investigated the prognostic ability of tryptophan, serotonin, kynurenine and IDO (represented by the ratio of kynurenine/tryptophan) to predict adverse clinical outcomes in patients with community-acquired pneumonia (CAP). | null | null | null |
null | null | Negative | MESH:D009101 | null | null | myeloma | 78912 | null | Sp2/0 | null | 28,029,330 | Splenocytes extracted from mice immunized with prokaryotic protein were fused with myeloma cells Sp2/0 to generate hybridoma cells. | null | null | null |
1 | 0 | Biomarker | C0343111 | Naegeli syndrome | disease | Naegeli-Franceschetti-Jadassohn syndrome | 3861 | KRT14 | KRT14 | CTD_human | 16,960,809 | Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. | 0.400549 | <span class="disease" id="16960809-0-0-40">Naegeli-Franceschetti-Jadassohn syndrome</span> and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in <span class="gene" id="16960809-0-149-154">KRT14</span>. | CTD_human;ORPHANET |
1 | 0 | Biomarker | C0017638 | Glioma | disease | glioma | 1184 | CLCN5 | ClC-5 | CTD_human | 12,843,258 | Transcripts for ClC-2 thru ClC-7 were detected in a human glioma cell line by PCR, whereas only ClC-2, ClC-3, and ClC-5 protein could be identified by Western blot. | 0.2 | Transcripts for ClC-2 thru ClC-7 were detected in a human <span class="disease" id="12843258-3-58-64">glioma</span> cell line by PCR, whereas only ClC-2, ClC-3, and <span class="gene" id="12843258-3-114-119">ClC-5</span> protein could be identified by Western blot. | CTD_human |
null | null | Negative | MESH:D016393 | null | null | B-cell lymphoma 2 | 25402 | null | caspase 3 | null | 28,101,165 | Western blotting was used to explore the expression levels of extracellular signal regulated kinase (ERK)-5, Kirsten rat sarcoma viral oncogene homolog (KRAS), caspase 3 and B-cell lymphoma 2 (Bcl-2) in CNE-2Z cells following transfection with miR-143. | null | null | null |
null | null | Negative | MESH:C537014 | null | null | KD | 325 | null | PTX2 | null | 28,213,380 | Binding studies showed that FX, SR-AI, and PTX2 independently bind to each other (KD,app: 0.2-0.7 M). | null | null | null |
null | null | Negative | MESH:D005234 | null | null | fatty acid synthase | 443185 | null | stearoyl-CoA desaturase | null | 28,070,532 | The fatty acid synthase (FASN) and stearoyl-CoA desaturase (delta-9-desaturase) (SCD) genes affect fatty acid composition (1). | null | null | null |
null | null | Negative | MESH:C536265 | null | null | brachial plexus injury | 105535785 | null | BPI | null | 28,099,737 | OBJECTIVE: To evaluate whether a standardized approach to identify pregnant women at risk for shoulder dystocia (SD) is associated with reduced incidence of SD and brachial plexus injury (BPI). | null | null | null |
1 | 0 | Biomarker | C0345967 | Malignant mesothelioma | disease | MM | 3562 | IL3 | IL-3 | CTD_human | 25,162,674 | A specific pattern of cytokines were found highly expressed in Asb-workers: IFN-alpha (p<0.05), EOTAXIN (p<0.01), RANTES (p<0.001), and in MM patients: IL-12(p40), IL-3, IL-1 alpha, MCP-3, beta-NGF, TNF-beta, RANTES (p<0.001). | 0.2 | A specific pattern of cytokines were found highly expressed in Asb-workers: IFN-alpha (p<0.05), EOTAXIN (p<0.01), RANTES (p<0.001), and in <span class="disease" id="25162674-8-139-141">MM</span> patients: IL-12(p40), <span class="gene" id="25162674-8-164-168">IL-3</span>, IL-1 alpha, MCP-3, beta-NGF, TNF-beta, RANTES (p<0.001). | CTD_human |
null | null | Negative | MESH:D000860 | null | null | hypoxic | 59086 | null | TGF-b1 | null | 28,003,810 | This study was designed to investigate the effect of C-AR on synovial fibrosis from the aspects of hypoxic TGF-b1 and hypoxia-inducible transcription factor-1a (HIF-1a) induction. | null | null | null |
1 | 0 | Biomarker | C0085682 | Hypophosphatemia | phenotype | hypophosphatemia | 8856 | NR1I2 | PXR | CTD_human | 19,898,264 | Nuclear xenobiotic receptor PXR-null mouse exhibits hypophosphatemia and represses the Na/Pi-cotransporter SLC34A2. | 0.2 | Nuclear xenobiotic receptor <span class="gene" id="19898264-0-28-31">PXR</span>-null mouse exhibits <span class="disease" id="19898264-0-52-68">hypophosphatemia</span> and represses the Na/Pi-cotransporter SLC34A2. | CTD_human |
1 | 0 | Biomarker | C0036572 | Seizures | phenotype | seizure | 348980 | HCN1 | HCN1 | CTD_human | 20,384,728 | Increased seizure severity and seizure-related death in mice lacking HCN1 channels. | 0.280549 | Increased <span class="disease" id="20384728-0-10-17">seizure</span> severity and <span class="disease" id="20384728-0-31-38">seizure</span>-related death in mice lacking <span class="gene" id="20384728-0-69-73">HCN1</span> channels. | CTD_human |
6 | 0 | Biomarker | C0036572 | Seizures | phenotype | convulsions | 5020 | OXT | oxytocin | CTD_human | 3,923,190 | In association with excessive self-administration of an oxytocin nasal spray, she developed severe water intoxication, with hyponatremic encephalopathy and convulsions. | 0.2 | In association with excessive self-administration of an <span class="gene" id="3923190-5-56-64">oxytocin</span> nasal spray, she developed severe water intoxication, with hyponatremic encephalopathy and <span class="disease" id="3923190-5-156-167">convulsions</span>. | CTD_human |
3 | 0 | Biomarker | C0021846 | Intestinal Polyps | phenotype | intestinal polyps | 324 | APC | Apc | CTD_human | 14,991,580 | As with cyclooxygenase (COX)-2, genetic disruption of COX-1 gene or pharmacologic inhibition of its activity has been shown to decrease the number of intestinal polyps in Apc gene-deficient mice. | 0.205154 | As with cyclooxygenase (COX)-2, genetic disruption of COX-1 gene or pharmacologic inhibition of its activity has been shown to decrease the number of <span class="disease" id="14991580-1-150-167">intestinal polyps</span> in <span class="gene" id="14991580-1-171-174">Apc</span> gene-deficient mice. | CTD_human |
null | null | Negative | MESH:D000230 | null | null | ADCs | 382056 | null | mTORC1 | null | 28,025,080 | To estimate mTOR activity, we studied the expression of mTOR-related proteins (mTORC1: p-mTOR, p-S6; mTORC2: p-mTOR, Rictor) in primary (n=67) and brain metastatic (n=67) lung ADCs, including 15 paired tissue samples, using immunohistochemistry and tissue microarrays. | null | null | null |
1 | 0 | Biomarker | C0014549 | Tonic-Clonic Epilepsy | disease | tonic-clonic convulsions | 2247 | FGF2 | FGF-2 | CTD_human | 16,023,256 | At 4 h following pilocarpine-induced seizures, expression of NGF, BDNF, HB-EGF, and FGF-2 increased only in the mice manifesting tonic-clonic convulsions and not in mice without seizures. | 0.2 | At 4 h following pilocarpine-induced seizures, expression of NGF, BDNF, HB-EGF, and <span class="gene" id="16023256-5-84-89">FGF-2</span> increased only in the mice manifesting <span class="disease" id="16023256-5-129-153">tonic-clonic convulsions</span> and not in mice without seizures. | CTD_human |
null | null | Negative | MESH:D008175 | null | null | CEA | 4582;94025 | null | CA 15-3/CA-125 | null | 28,023,801 | The defined increase of CEA and/or CA 15-3/CA-125 is highly specific for recurrence in breast cancer pts. | null | null | null |
59 | 0 | Biomarker | C0038454 | Cerebrovascular accident | group | stroke | 5327 | PLAT | alteplase | CTD_human | 8,598,594 | The higher rate of stroke in women after treatment with alteplase (2.0% vs 1.9% with streptokinase and intravenous heparin) was offset by a greater relative reduction in mortality (10.3% vs 11.1%). | 0.221398 | The higher rate of <span class="disease" id="8598594-13-19-25">stroke</span> in women after treatment with <span class="gene" id="8598594-13-56-65">alteplase</span> (2.0% vs 1.9% with streptokinase and intravenous heparin) was offset by a greater relative reduction in mortality (10.3% vs 11.1%). | CTD_human |
69 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 183 | AGT | angiotensin II | CTD_human | 24,342,267 | Chronic infusion of enalaprilat into hypothalamic paraventricular nucleus attenuates angiotensin II-induced hypertension and cardiac hypertrophy by restoring neurotransmitters and cytokines. | 0.52 | Chronic infusion of enalaprilat into hypothalamic paraventricular nucleus attenuates <span class="gene" id="24342267-0-85-99">angiotensin II</span>-induced <span class="disease" id="24342267-0-108-120">hypertension</span> and cardiac hypertrophy by restoring neurotransmitters and cytokines. | CTD_human |
6 | 4 | Biomarker | C1785148 | RAPP-HODGKIN SYNDROME | disease | RHS | 8626 | TP63 | P63 | CTD_human | 19,239,083 | To date more than 20 P63 mutations have been described associated with AEC and RHS, the majority of which are missense or nonsense mutations. | 0.603297 | To date more than 20 <span class="gene" id="19239083-4-21-24">P63</span> mutations have been described associated with AEC and <span class="disease" id="19239083-4-79-82">RHS</span>, the majority of which are missense or nonsense mutations. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C0018923 | Hemangiosarcoma | disease | angiosarcoma | 5787 | PTPRB | PTPRB | CTD_human | 24,633,157 | Recurrent PTPRB and PLCG1 mutations in angiosarcoma. | 0.200824 | Recurrent <span class="gene" id="24633157-0-10-15">PTPRB</span> and PLCG1 mutations in <span class="disease" id="24633157-0-39-51">angiosarcoma</span>. | CTD_human |
null | null | Negative | MESH:D046152 | null | null | gastrointestinal stromal tumor | 51176 | null | LEF1 | null | 28,027,119 | We performed LEF1 and b-catenin immunohistochemistry in DTF (n=26), superficial fibromatosis (n=19), sclerosing mesenteritis (n=12), gastrointestinal stromal tumor (n=17), and cutaneous scar (n=14) using tissue microarray and whole sections. | null | null | null |