NofPmids
float64 1
96
⌀ | NofSnps
float64 0
1.07k
⌀ | associationType
stringclasses 3
values | diseaseId
stringlengths 8
12
| diseaseName
stringclasses 587
values | diseaseType
stringclasses 3
values | disease_mention
stringlengths 1
89
| geneId
stringlengths 1
30
| geneSymbol
stringlengths 2
10
⌀ | gene_mention
stringlengths 2
69
| originalSource
stringclasses 1
value | pmid
int64 104k
28.2M
| raw_sentence
stringlengths 39
1.09k
| score
float64 0.2
1
⌀ | sentence
stringlengths 143
948
⌀ | source
stringclasses 9
values |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 0 | Biomarker | C0008384 | Cholesterol Ester Storage Disease | disease | cholesteryl ester storage disease | 3988 | LIPA | lysosomal acid lipase | CTD_human | 24,295,952 | A practical fluorometric assay method to measure lysosomal acid lipase activity in dried blood spots for the screening of cholesteryl ester storage disease and Wolman disease. | 0.409 | A practical fluorometric assay method to measure <span class="gene" id="24295952-0-49-70">lysosomal acid lipase</span> activity in dried blood spots for the screening of <span class="disease" id="24295952-0-122-155">cholesteryl ester storage disease</span> and Wolman disease. | CTD_human;ORPHANET |
2 | 3 | Biomarker | C0024141 | Lupus Erythematosus, Systemic | disease | SLE | 3663 | IRF5 | IRF5 | CTD_human | 18,204,446 | Aside from the expected strong association between SLE and the HLA region on chromosome 6p21 and the previously confirmed non-HLA locus IRF5 on chromosome 7q32, we found evidence of association with replication (1.1 x 10(-7) < P(overall) < 1.6 x 10(-23); odds ratio = 0.82-1.62) in four regions: 16p11.2 (ITGAM), 11p15.5 (KIAA1542), 3p14.3 (PXK) and 1q25.1 (rs10798269). | 0.309874 | Aside from the expected strong association between <span class="disease" id="18204446-3-51-54">SLE</span> and the HLA region on chromosome 6p21 and the previously confirmed non-HLA locus <span class="gene" id="18204446-3-136-140">IRF5</span> on chromosome 7q32, we found evidence of association with replication (1.1 x 10(-7) < P(overall) < 1.6 x 10(-23); odds ratio = 0.82-1.62) in four regions: 16p11.2 (ITGAM), 11p15.5 (KIAA1542), 3p14.3 (PXK) and 1q25.1 (rs10798269). | CTD_human |
1 | 0 | Biomarker | C0010417 | Cryptorchidism | disease | cryptorchidism | 867 | CBL | CBL | CTD_human | 20,694,012 | We describe a dominant developmental disorder resulting from germline missense CBL mutations, which is characterized by impaired growth, developmental delay, cryptorchidism and a predisposition to juvenile myelomonocytic leukemia (JMML). | 0.400275 | We describe a dominant developmental disorder resulting from germline missense <span class="gene" id="20694012-2-79-82">CBL</span> mutations, which is characterized by impaired growth, developmental delay, <span class="disease" id="20694012-2-158-172">cryptorchidism</span> and a predisposition to juvenile myelomonocytic leukemia (JMML). | CTD_human;HPO |
null | null | Negative | MESH:D007938 | null | null | leukemia | 728655 | null | HULC | null | 28,069,548 | However, the role of HULC in chronic myeloid leukemia (CML) is unknown. | null | null | null |
1 | 0 | Biomarker | C0079731 | B-Cell Lymphomas | group | B cell lymphoma | 5770 | PTPN1 | PTPN1 | CTD_human | 24,531,327 | Recurrent somatic mutations of PTPN1 in primary mediastinal B cell lymphoma and Hodgkin lymphoma. | 0.200549 | Recurrent somatic mutations of <span class="gene" id="24531327-0-31-36">PTPN1</span> in primary mediastinal <span class="disease" id="24531327-0-60-75">B cell lymphoma</span> and Hodgkin lymphoma. | CTD_human |
null | null | Negative | MESH:C565367 | null | null | Iranian | 59271 | null | B19 | null | 28,142,135 | OBJECTIVES: The aim of this study was to evaluate the frequency and genotype of human parvovirus B19 and its relation with anemia among Iranian patients under dialysis. | null | null | null |
null | null | Negative | MESH:D042882 | null | null | gallstone | 15251 | null | HIF1A | null | 28,088,462 | We studied the relationship between HIF1A and gallstone formation associated with liver steatosis. | null | null | null |
1 | 0 | Biomarker | C0019196 | Hepatitis C | disease | hepatitis C | 1548 | CYP2A6 | CYP2A6 | CTD_human | 8,864,187 | In sections of liver infected with hepatitis B virus (HBV) or hepatitis C virus (HCV), the expression of CYP2A6 was markedly increased in hepatocytes immediately adjacent to areas of fibrosis and inflammation. | 0.200275 | In sections of liver infected with hepatitis B virus (HBV) or <span class="disease" id="8864187-4-62-73">hepatitis C</span> virus (HCV), the expression of <span class="gene" id="8864187-4-105-111">CYP2A6</span> was markedly increased in hepatocytes immediately adjacent to areas of fibrosis and inflammation. | CTD_human |
2 | 0 | Biomarker | C0027627 | Neoplasm Metastasis | phenotype | tumor metastasis | 4638 | MYLK | MLCK | CTD_human | 18,710,790 | Myosin light-chain kinase (MLCK) plays a crucial role in the cell migration and tumor metastasis. | 0.200549 | <span class="gene" id="18710790-1-0-25">Myosin light-chain kinase</span> (<span class="gene" id="18710790-1-27-31">MLCK</span>) plays a crucial role in the cell migration and <span class="disease" id="18710790-1-80-96">tumor metastasis</span>. | CTD_human |
null | null | Negative | MESH:D006984 | null | null | hypertrophy | 24323 | null | endothelin-1 | null | 28,157,155 | In vitro, gnetol and pterostilbene prevented endothelin-1-induced indicators of cardiomyocyte hypertrophy including cell enlargement and protein synthesis. | null | null | null |
1 | 0 | Biomarker | C0009404 | Colorectal Neoplasms | group | colorectal tumors | 540 | ATP7B | ATP7B | CTD_human | 19,296,535 | In conclusion, ATP7B mRNA and protein expression in colorectal tumors is associated with clinical outcome to oxaliplatin/5FU. | 0.200275 | In conclusion, <span class="gene" id="19296535-7-15-20">ATP7B</span> mRNA and protein expression in <span class="disease" id="19296535-7-52-69">colorectal tumors</span> is associated with clinical outcome to oxaliplatin/5FU. | CTD_human |
null | null | Negative | MESH:C566610 | null | null | axis | 19122 | null | PrP(C) | null | 28,095,625 | In addition, melatonin regulated the immunomodulatory effects of MSCs via the PrP(C) -IDO axis. | null | null | null |
null | null | Negative | MESH:C566610 | null | null | axis | 2475 | null | mammalian target of rapamycin | null | 28,082,516 | Moreover, the RAGE-extracellular regulated protein kinases (ERK) axis and rapamycin-sensitive components of mammalian target of rapamycin (mTOR) pathways were demonstrated in vitro to be involved in HMGB1-induced autophagy of Treg cells. | null | null | null |
null | null | Negative | MESH:D053632 | null | null | SCID | 5133 | null | PD-1 | null | 28,115,719 | In human artery-SCID chimeras, PD-1 blockade exacerbated vascular inflammation, enriched for PD-1<sup>+</sup> effector T cells, and amplified tissue production of multiple T-cell effector cytokines, including IFN-y, IL-17, and IL-21. | null | null | null |
1 | 0 | Therapeutic | C0011303 | Demyelinating Diseases | group | demyelinating disease | 23411 | SIRT1 | SIRT1 | CTD_human | 23,547,115 | These results suggest that SIRT1 reduces neuronal loss in this chronic demyelinating disease model and that this is associated with a reduction in inflammation. | 0.2 | These results suggest that <span class="gene" id="23547115-9-27-32">SIRT1</span> reduces neuronal loss in this chronic <span class="disease" id="23547115-9-71-92">demyelinating disease</span> model and that this is associated with a reduction in inflammation. | CTD_human |
null | null | Negative | MESH:D001932 | null | null | brain tumor | 13823 | null | Dal-1 | null | 28,029,283 | SAMPLES 4 canine hemangiosarcoma cell lines (SB-HSA [mouse-passaged cutaneous tumor], Emma [primary metastatic brain tumor], and Frog and Dal-1 [primary splenic tumors]) and 1 nonneoplastic canine endothelial cell line (CnAoEC). | null | null | null |
1 | 0 | Therapeutic | C0014868 | Esophagitis | disease | esophagitis | 6648 | SOD2 | SOD2 | CTD_human | 11,121,210 | Modulation of radiation-induced cytokine elevation associated with esophagitis and esophageal stricture by manganese superoxide dismutase-plasmid/liposome (SOD2-PL) gene therapy. | 0.200275 | Modulation of radiation-induced cytokine elevation associated with <span class="disease" id="11121210-0-67-78">esophagitis</span> and esophageal stricture by manganese superoxide dismutase-plasmid/liposome (<span class="gene" id="11121210-0-156-160">SOD2</span>-PL) gene therapy. | CTD_human |
null | null | Negative | MESH:D006130 | null | null | hepatocyte growth factor | 395323 | null | VEGFR-2 | null | 28,070,997 | Immunohistochemistry was performed to determine the expressions of EPC markers (CD133 and VEGFR-2) and proangiogenic molecule hepatocyte growth factor (HGF) in the lung samples. | null | null | null |
null | null | Negative | MESH:D000377 | null | null | time to progression | 3845 | null | k-ras | null | 28,020,853 | They were evaluated for clinicopathological features, EGFR, k-ras and b-raf mutations, erlotinib treatment, time to progression (TTP) and overall survival (OS). | null | null | null |
1 | 0 | Biomarker | C0028754 | Obesity | disease | obesity | 3383 | ICAM1 | intercellular adhesion molecule-1 | CTD_human | 11,782,876 | Elevated soluble intercellular adhesion molecule-1 levels in obesity: relationship to insulin resistance and tumor necrosis factor-alpha system activity. | 0.204055 | Elevated soluble <span class="gene" id="11782876-0-17-50">intercellular adhesion molecule-1</span> levels in <span class="disease" id="11782876-0-61-68">obesity</span>: relationship to insulin resistance and tumor necrosis factor-alpha system activity. | CTD_human |
null | null | Negative | MESH:D008067 | null | null | lipomas | 406947 | null | miR-155 | null | 28,036,291 | Here, we evaluated miR-155, miR-21, miR-143, miR-145 and miR-451 that are implicated in LPS, as novel FFPE tissue biomarkers.A total of 83 FFPE tissue specimens from primary LPS and lipomas (LPM) were analyzed. | null | null | null |
null | null | Negative | MESH:D006623 | null | null | VHL-HBs | 6751 | null | SSTR1 | null | 28,094,316 | We explored this possibility by demonstrating consistent histologic expression of SSTR1, 2a, 4, and 5 in VHL-HBs. | null | null | null |
11 | 10 | Biomarker | C0020640 | Inherited Factor II deficiency | disease | hypoprothrombinemia | 2147 | F2 | prothrombin | CTD_human | 7,740,448 | A patient with a severe bleeding tendency and hypoprothrombinemia (Factor II activity 2%, Factor II antigen 5%) was screened for the presence of alterations in his prothrombin gene. | 0.614177 | A patient with a severe bleeding tendency and <span class="disease" id="7740448-1-46-65">hypoprothrombinemia</span> (Factor II activity 2%, Factor II antigen 5%) was screened for the presence of alterations in his <span class="gene" id="7740448-1-164-175">prothrombin</span> gene. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D009369 | null | null | cancer | 770004 | null | carbonic anhydrase IX | null | 28,028,180 | In this study, we investigated this activation process by using three cancer-promoting zinc-requiring ectoenzymes, autotaxin (ATX), matrix metalloproteinase 9 (MMP9), and carbonic anhydrase IX (CAIX), and the chicken DT40 cell mutants that we generated; we specifically focused on clarifying whether the same or a similar activation mechanism operates in these ectoenzymes. | null | null | null |
4 | 0 | Biomarker | C0242422 | Parkinsonian Disorders | group | parkinsonism | 65018 | PINK1 | PINK1 | CTD_human | 15,349,871 | Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism. | 0.257888 | Homozygous <span class="gene" id="15349871-0-11-16">PINK1</span> C-terminus mutation causing early-onset <span class="disease" id="15349871-0-57-69">parkinsonism</span>. | CTD_human |
1 | 0 | Biomarker | C0025202 | melanoma | disease | melanoma | 25913 | POT1 | POT1 | CTD_human | 24,686,849 | These findings suggest that POT1 variants predispose to melanoma formation via a direct effect on telomeres. | 0.401648 | These findings suggest that <span class="gene" id="24686849-5-28-32">POT1</span> variants predispose to <span class="disease" id="24686849-5-56-64">melanoma</span> formation via a direct effect on telomeres. | CTD_human;HPO |
2 | 0 | Biomarker | C0001418 | Adenocarcinoma | group | adenocarcinoma | 2099 | ESR1 | ESR1 | CTD_human | 15,639,718 | Comparison of methylation in adenocarcinoma cell lines and tumors versus non-tumor lung tissue showed methylation of ESR1, PGR1 and RASSF1 to be significantly elevated in adenocarcinoma, with RASSF1 being most significant (P=0.0002). | 0.215067 | Comparison of methylation in <span class="disease" id="15639718-8-29-43">adenocarcinoma</span> cell lines and tumors versus non-tumor lung tissue showed methylation of <span class="gene" id="15639718-8-117-121">ESR1</span>, PGR1 and RASSF1 to be significantly elevated in <span class="disease" id="15639718-8-171-185">adenocarcinoma</span>, with RASSF1 being most significant (P=0.0002). | CTD_human |
null | null | Negative | MESH:D017827 | null | null | wild-type | 714082 | null | CD46 | null | 28,054,735 | METHODS: Rhesus monkeys (n=10) were transplanted with full-thickness corneas from wild-type (WT; n=4) and GTKO/CD46 (n=4) pigs or from monkeys (n=2). | null | null | null |
null | null | Negative | MESH:D017827 | null | null | type | 344901 | null | musclin | null | 28,185,530 | The aim of this study was to explore the potential correlations between musclin plasma levels and various metabolic parameters in patients with type 2 diabetes mellitus. | null | null | null |
null | null | Negative | MESH:D006973 | null | null | hypertension | 81638 | null | angiotensin II type 1-receptor | null | 28,095,223 | Our goal was to assess the cardiovascular and renal protection afforded by angiotensin II type 1-receptor blockade against NG-nitro-L-arginine methyl ester (L-NAME)-exacerbated hypertension in young spontaneously hypertensive rats (SHR), in comparison with the antihypertensive drug, hydralazine. | null | null | null |
1 | 0 | Biomarker | C0003872 | Arthritis, Psoriatic | disease | psoriatic arthritis | 4210 | MEFV | MEFV | CTD_human | 17,408,446 | This case has been presented to remind that cases with psoriatic arthritis may also carry mutations in the MEFV gene. | 0.202682 | This case has been presented to remind that cases with <span class="disease" id="17408446-10-55-74">psoriatic arthritis</span> may also carry mutations in the <span class="gene" id="17408446-10-107-111">MEFV</span> gene. | CTD_human |
1 | 0 | Biomarker | C1840452 | Hyaloideoretinal degeneration of Wagner | disease | Wagner's disease | 1280 | COL2A1 | COL2A1 | CTD_human | 11,812,423 | Tissue-specific alternative splicing of COL2A1 mRNAs thus provides an elegant biochemical mechanism for a clinical phenotype of Wagner's disease in this kindred. | 0.201648 | Tissue-specific alternative splicing of <span class="gene" id="11812423-14-40-46">COL2A1</span> mRNAs thus provides an elegant biochemical mechanism for a clinical phenotype of <span class="disease" id="11812423-14-128-144">Wagner's disease</span> in this kindred. | CTD_human |
null | null | Negative | MESH:D011475 | null | null | Overall survival | 7298 | null | TS | null | 28,014,351 | Overall survival (OS) and disease-free survival (DFS) were compared between high and low expressors of TS and TP singly and in combination. | null | null | null |
2 | 0 | Biomarker | C0007134 | Renal Cell Carcinoma | disease | RCC | 79444 | BIRC7 | Livin | CTD_human | 17,437,058 | Livin gene expression was detected in a significant portion of RCC tumor tissue specimens (13/14, 92.9%) and tumor-derived cell lines (12/15, 80.0%). | 0.209023 | <span class="gene" id="17437058-4-0-5">Livin</span> gene expression was detected in a significant portion of <span class="disease" id="17437058-4-63-66">RCC</span> tumor tissue specimens (13/14, 92.9%) and tumor-derived cell lines (12/15, 80.0%). | CTD_human |
1 | 0 | Biomarker | C0018801 | Heart failure | disease | heart failure | 1490 | CTGF | connective tissue growth factor | CTD_human | 17,229,371 | [Expression of connective tissue growth factor in cardiomyocyte of young rats with heart failure and benazepril intervention]. | 0.201923 | [Expression of <span class="gene" id="17229371-0-15-46">connective tissue growth factor</span> in cardiomyocyte of young rats with <span class="disease" id="17229371-0-83-96">heart failure</span> and benazepril intervention]. | CTD_human |
1 | 0 | Biomarker | C0524851 | Neurodegenerative Disorders | group | neurodegenerative disease | 5413 | SEPT5 | septin 5 | 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>, <span class="gene" id="22430071-4-137-145">septin 5</span>, α-internexin, and α-synuclein, were identified to be altered by MCLR exposure. | CTD_human |
1 | 0 | Biomarker | C0265998 | ANONYCHIA | disease | anonychia | 6662 | SOX9 | SOX9 | CTD_human | 19,639,023 | Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. | 0.2 | Duplications of noncoding elements 5' of <span class="gene" id="19639023-0-41-45">SOX9</span> are associated with brachydactyly-<span class="disease" id="19639023-0-80-89">anonychia</span>. | CTD_human |
1 | 0 | Biomarker | C0030193 | Pain | phenotype | pain | 2643 | GCH1 | GCH1 | CTD_human | 19,081,190 | Polymorphisms in the GTP cyclohydrolase gene (GCH1) are associated with ratings of capsaicin pain. | 0.221585 | Polymorphisms in the GTP cyclohydrolase gene (<span class="gene" id="19081190-0-46-50">GCH1</span>) are associated with ratings of capsaicin <span class="disease" id="19081190-0-93-97">pain</span>. | CTD_human |
1 | 0 | Biomarker | C0021390 | Inflammatory Bowel Diseases | group | IBD | 10297 | APC2 | APC2 | CTD_human | 18,716,850 | Moreover, methylation of APC1A, APC2, SFRP1, and SFRP2 appears to mark progression from IBD colitis to IBD-associated neoplasia, and these genes may serve as biomarkers for IBD-associated neoplasia. | 0.200275 | Moreover, methylation of APC1A, <span class="gene" id="18716850-12-32-36">APC2</span>, SFRP1, and SFRP2 appears to mark progression from <span class="disease" id="18716850-12-88-91">IBD</span> colitis to <span class="disease" id="18716850-12-103-106">IBD</span>-associated neoplasia, and these genes may serve as biomarkers for <span class="disease" id="18716850-12-173-176">IBD</span>-associated neoplasia. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 3553;3569;3586 | null | interleukin-1b, -6, and -10 | null | 28,043,842 | Inflammation biomarkers included C-reactive protein, the cytokines interleukin-1b, -6, and -10, and tumor necrosis factor-a. | null | null | null |
null | null | Negative | MESH:C536657 | null | null | TNF | 16171 | null | IL-17 | null | 28,094,754 | MSC also reduced the secretion of IL-1b, IL-6, IL-17 and TNF-a among collagen-specific T cells. | null | null | null |
null | null | Negative | MESH:D005198 | null | null | tubular dysfunction | 83429 | null | Ctns | null | 28,198,397 | Animal models of cystinosis are limited, with only a Ctns knockout mouse reported, showing cystine accumulation and late signs of tubular dysfunction but lacking the glomerular phenotype. | null | null | null |
1 | 0 | Biomarker | C0007137 | Squamous cell carcinoma | disease | squamous cell carcinomas | 6794 | STK11 | LKB1 | CTD_human | 17,676,035 | Consistent with these findings, inactivation of LKB1 was found in 34% and 19% of 144 analysed human lung adenocarcinomas and squamous cell carcinomas, respectively. | 0.215536 | Consistent with these findings, inactivation of <span class="gene" id="17676035-7-48-52">LKB1</span> was found in 34% and 19% of 144 analysed human lung adenocarcinomas and <span class="disease" id="17676035-7-125-149">squamous cell carcinomas</span>, respectively. | CTD_human |
null | null | Negative | MESH:D000377 | null | null | time to progression | 673 | null | b-raf | null | 28,020,853 | They were evaluated for clinicopathological features, EGFR, k-ras and b-raf mutations, erlotinib treatment, time to progression (TTP) and overall survival (OS). | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 780896 | null | Act-D | null | 28,104,133 | Two years later, liver metastasis in the left and right lobes was found and was followed by VAC chemotherapy (CTX, 1800 mg; Act-D, 0.9 mg; VCR, 1.2 mg), with no change of the tumor size. | null | null | null |
1 | 5 | Biomarker | C0265962 | Ichthyosis linearis circumflexa | disease | Netherton syndrome | 11005 | SPINK5 | LEKTI | CTD_human | 20,657,595 | Here we show that the membrane protease matriptase initiates Netherton syndrome in a LEKTI-deficient mouse model by premature activation of a pro-kallikrein cascade. | 0.493462 | Here we show that the membrane protease matriptase initiates <span class="disease" id="20657595-2-61-79">Netherton syndrome</span> in a <span class="gene" id="20657595-2-85-90">LEKTI</span>-deficient mouse model by premature activation of a pro-kallikrein cascade. | CTD_human;ORPHANET |
68 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 5443 | POMC | ACTH | CTD_human | 6,097,376 | Acute glucocorticoid (corticosterone) hypertension in the rate is significantly attenuated by neomycin administration (Honour 1981), as is ACTH-induced hypertension is the same species (Honour & Kent 1981) presumably by altering gut bacterial steroid metabolism. | 0.203846 | Acute glucocorticoid (corticosterone) <span class="disease" id="6097376-1-38-50">hypertension</span> in the rate is significantly attenuated by neomycin administration (Honour 1981), as is <span class="gene" id="6097376-1-139-143">ACTH</span>-induced <span class="disease" id="6097376-1-152-164">hypertension</span> is the same species (Honour & Kent 1981) presumably by altering gut bacterial steroid metabolism. | CTD_human |
null | null | Negative | MESH:C563010 | null | null | neutrophilia | 3091 | null | HIF1a | null | 28,020,562 | CONCLUSIONS: Our experience suggests the utility of de HIF1a, CAIX, PTEN, p21, thrombocytosis and neutrophilia as prognostic factors in patients with advanced RCC. | null | null | null |
null | null | Negative | MESH:D030342 | null | null | autosomal-recessive muscle disorder | 8291 | null | DYSF | null | 28,053,302 | UNASSIGNED: BACKGROUND Miyoshi myopathy (MM) is an autosomal-recessive muscle disorder caused by mutations in the DYSF gene. | null | null | null |
51 | 124 | Biomarker | C1142166 | Brugada Syndrome (disorder) | disease | Brugada syndrome | 6331 | SCN5A | SCN5A | CTD_human | 10,662,748 | A mutation in the cardiac sodium channel gene (SCN5A) has been described in patients with the syndrome of right bundle branch block, ST-segment elevation in leads V1 to V3, and sudden death (Brugada syndrome). | 0.843536 | A mutation in the cardiac sodium channel gene (<span class="gene" id="10662748-1-47-52">SCN5A</span>) has been described in patients with the syndrome of right bundle branch block, ST-segment elevation in leads V1 to V3, and sudden death (<span class="disease" id="10662748-1-191-207">Brugada syndrome</span>). | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C0029463 | Osteosarcoma | disease | osteosarcoma | 8856 | NR1I2 | PXR | CTD_human | 17,279,585 | Cytotoxicity assays showed that the resistance of the osteosarcoma cell lines to etoposide correlated with PXR protein expression levels and activation of P450 3A4 and could be prevented by ketoconazole. | 0.203557 | Cytotoxicity assays showed that the resistance of the <span class="disease" id="17279585-8-54-66">osteosarcoma</span> cell lines to etoposide correlated with <span class="gene" id="17279585-8-107-110">PXR</span> protein expression levels and activation of P450 3A4 and could be prevented by ketoconazole. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 20586 | null | Brg1 | null | 28,105,457 | UNASSIGNED: Inactivation of Brg1 and Brm accelerated lung tumor development, shortened tumor latency, and caused a loss of differentiation. | null | null | null |
1 | 1 | Biomarker | C1142166 | Brugada Syndrome (disorder) | disease | Brugada syndrome | 6336 | SCN10A | SCN10A | CTD_human | 23,872,634 | Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. | 0.401648 | Common variants at SCN5A-<span class="gene" id="23872634-0-25-31">SCN10A</span> and HEY2 are associated with <span class="disease" id="23872634-0-61-77">Brugada syndrome</span>, a rare disease with high risk of sudden cardiac death. | CTD_human;ORPHANET |
1 | 0 | Biomarker | C0010417 | Cryptorchidism | disease | cryptorchidism | 836 | CASP3 | caspase 3 | CTD_human | 26,050,606 | In testes, while apoptosis-related caspase 3 and Bcl-xL mRNAs were significantly changed after 14 days, 3 beta-hydroxysteroid dehydrogenase mRNA was greatly reduced immediately after cryptorchidism. | 0.2 | In testes, while apoptosis-related <span class="gene" id="26050606-3-35-44">caspase 3</span> and Bcl-xL mRNAs were significantly changed after 14 days, 3 beta-hydroxysteroid dehydrogenase mRNA was greatly reduced immediately after <span class="disease" id="26050606-3-183-197">cryptorchidism</span>. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 16176 | null | IL-1b | null | 28,031,106 | Concentrations of interleukin (IL)-10, IL-6, IL-1b and tumor necrosis factor (TNF)-a in sera were measured by ELISA. | null | null | null |
null | null | Negative | MESH:D007029 | null | null | neurohypophysis | 24221 | null | vasopressin | null | 28,091,880 | At the time points 0, 4, 6, 18 and 24 h after sepsis induction the animals were decapitated and neurohypophysis and hypothalamus were removed for analysis of vasopressin content and NOS activity, respectively. | null | null | null |
1 | 0 | Biomarker | C0003469 | Anxiety Disorders | group | anxiety | 7349 | UCN | urocortin | CTD_human | 16,488,545 | Injections of urocortin 1 into the basolateral amygdala induce anxiety-like behavior and c-Fos expression in brainstem serotonergic neurons. | 0.2 | Injections of <span class="gene" id="16488545-0-14-23">urocortin</span> 1 into the basolateral amygdala induce <span class="disease" id="16488545-0-63-70">anxiety</span>-like behavior and c-Fos expression in brainstem serotonergic neurons. | CTD_human |
7 | 0 | Therapeutic | 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 |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 154 | ADRB2 | ADRB2 | CTD_human | 17,199,132 | In conclusion, the Glu27 allele of the ADRB2 gene may confer increased risk of autism and shows increased strength with exposure to pregnancy related stress. | 0.207822 | In conclusion, the Glu27 allele of the <span class="gene" id="17199132-10-39-44">ADRB2</span> gene may confer increased risk of <span class="disease" id="17199132-10-79-85">autism</span> and shows increased strength with exposure to pregnancy related stress. | CTD_human |
6 | 4 | Biomarker | C0236642 | Pick Disease of the Brain | disease | Pick's disease | 4137 | MAPT | tau | CTD_human | 11,117,542 | Pick's disease is associated with mutations in the tau gene. | 0.46125 | <span class="disease" id="11117542-0-0-14">Pick's disease</span> is associated with mutations in the <span class="gene" id="11117542-0-51-54">tau</span> gene. | CTD_human;UNIPROT |
null | null | Negative | MESH:D020388 | null | null | DMD clinical syndrome | 606758 | null | dystrophin | null | 28,028,563 | Truncating mutations in the DMD gene cause loss of dystrophin and the classical DMD clinical syndrome. | null | null | null |
1 | 0 | Biomarker | C0032285 | Pneumonia | disease | lung inflammation | 196 | AHR | AhR | CTD_human | 23,337,360 | These findings suggest that decreased activation of the pulmonary AhR in newborn AhRd mice augments hyperoxia-induced alveolar simplification and lung inflammation in these mice. | 0.200275 | These findings suggest that decreased activation of the pulmonary <span class="gene" id="23337360-10-66-69">AhR</span> in newborn AhRd mice augments hyperoxia-induced alveolar simplification and <span class="disease" id="23337360-10-146-163">lung inflammation</span> in these mice. | CTD_human |
null | null | Negative | MESH:D009800 | null | null | maternal low-protein | 13009 | null | MLP | null | 28,099,477 | Previously we showed that adult offspring, developmentally exposed to a chronic maternal low-protein (MLP) diet, had lower body and hind-leg muscle weights and decreased liver enzyme serum levels. | null | null | null |
null | null | Negative | MESH:D010146 | null | null | pain | 55991 | null | Panx1 | null | 28,148,146 | This points to a new molecule (Panx1) and a new cell type (glia) as potential novel targets for pain therapy. | null | null | null |
1 | 0 | Biomarker | C0024141 | Lupus Erythematosus, Systemic | disease | systemic lupus erythematosus | 639 | PRDM1 | PRDM1 | CTD_human | 19,838,195 | A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. | 0.283781 | A large-scale replication study identifies TNIP1, <span class="gene" id="19838195-0-50-55">PRDM1</span>, JAZF1, UHRF1BP1 and IL10 as risk loci for <span class="disease" id="19838195-0-99-127">systemic lupus erythematosus</span>. | CTD_human |
3 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | HCC | 3569 | IL6 | IL-6 | CTD_human | 17,615,358 | We propose that estrogen-mediated inhibition of IL-6 production by KCs reduces liver cancer risk in females, and these findings may be used to prevent HCC in males. | 0.248141 | We propose that estrogen-mediated inhibition of <span class="gene" id="17615358-7-48-52">IL-6</span> production by KCs reduces liver cancer risk in females, and these findings may be used to prevent <span class="disease" id="17615358-7-151-154">HCC</span> in males. | CTD_human |
null | null | Negative | MESH:D005911 | null | null | gliosis | 12257 | null | TSPO | null | 28,093,569 | On the other hand, TSPO was markedly upregulated in a mouse model of acute neurodegeneration and reactive gliosis, which was induced by intrahippocampal injection of kainic acid. | null | null | null |
null | null | Negative | MESH:D009336 | null | null | necrosis | 16183 | null | IL2 | null | 28,127,976 | RESULTS: We found significant drop in production of immunoglobulins and interleukin (IL) 4 level while IL2, IL4 and tumour necrosis factor a remained unaltered for the whole experiment. | null | null | null |
null | null | Negative | MESH:C562591 | null | null | XPD | 7507 | null | XPA | null | 28,115,302 | Thirty-eight polymorphisms in eight NER genes were genotyped by Sequenom MassARRAY platform, including XPA, XPC, DDB2, XPB (ERCC3), XPD (ERCC2), ERCC1, XPF (ERCC4), and XPG (ERCC5). | null | null | null |
null | null | Negative | MESH:D009369 | null | null | cancer | 4313;4318 | null | matrix metalloproteinase-2, -9 | null | 28,015,323 | UNASSIGNED: 5098 Background: The aim of this study was to evaluate the relationship between the relapse free interval of Krukenberg tumor in patients with stomach and colon cancer and factors such as clinical characteristics, operative findings of primary cancer, and expression of matrix metalloproteinase-2, -9 known to be related to cancer metastasis. | null | null | null |
1 | 0 | Biomarker | C0020538 | Hypertensive disease | group | High blood pressure | 186 | AGTR2 | angiotensin II type 2 receptor | CTD_human | 15,710,752 | High blood pressure reduction reverses angiotensin II type 2 receptor-mediated vasoconstriction into vasodilation in spontaneously hypertensive rats. | 0.333239 | <span class="disease" id="15710752-0-0-19">High blood pressure</span> reduction reverses <span class="gene" id="15710752-0-39-69">angiotensin II type 2 receptor</span>-mediated vasoconstriction into vasodilation in spontaneously hypertensive rats. | CTD_human |
1 | 0 | Biomarker | C0027051 | Myocardial Infarction | disease | infarction myocardial inflammation | 3146 | HMGB1 | HMGB1 | CTD_human | 21,113,057 | These findings indicate that peroxynitrite represents a key mediator of HMGB1 overexpression and release by cardiac cells and provide a novel mechanism linking myocardial oxidative/nitrosative stress with post-infarction myocardial inflammation. | 0.280549 | These findings indicate that peroxynitrite represents a key mediator of <span class="gene" id="21113057-9-72-77">HMGB1</span> overexpression and release by cardiac cells and provide a novel mechanism linking myocardial oxidative/nitrosative stress with post-<span class="disease" id="21113057-9-210-244">infarction myocardial inflammation</span>. | CTD_human |
null | null | Negative | MESH:D003643 | null | null | death | 24835 | null | tumor necrosis factor-a | null | 28,054,940 | The activation of microglia may promote the neurodegenerative process through the release of proinflammatory cytokines, such as interleukin-1b (IL-1b) and tumor necrosis factor-a (TNFa), which may lead to neuronal damage and eventual death. | null | null | null |
3 | 0 | Biomarker | C0025149 | Medulloblastoma | disease | medulloblastoma | 5727 | PTCH1 | Ptc1 | CTD_human | 19,213,072 | To study the role of Ptc1 in cerebellar tumor development and to create a preclinical therapeutic platform, we have generated a conditional Ptc1 haploinsufficiency model of medulloblastoma by inactivating Ptc1 in Pax7-expressing cells of the cerebellum. | 0.494546 | To study the role of <span class="gene" id="19213072-3-21-25">Ptc1</span> in cerebellar tumor development and to create a preclinical therapeutic platform, we have generated a conditional <span class="gene" id="19213072-3-140-144">Ptc1</span> haploinsufficiency model of <span class="disease" id="19213072-3-173-188">medulloblastoma</span> by inactivating <span class="gene" id="19213072-3-205-209">Ptc1</span> in Pax7-expressing cells of the cerebellum. | CTD_human;HPO |
6 | 0 | Therapeutic | C0004153 | Atherosclerosis | disease | atherosclerosis | 5444 | PON1 | PON1 | CTD_human | 21,629,682 | Human serum paraoxonase-1 (PON1) prevents oxidation of low density lipoprotein cholesterol (LDL-C) and hydrolyzes the oxidized form, therefore preventing the development of atherosclerosis. | 0.286433 | Human serum <span class="gene" id="21629682-1-12-25">paraoxonase-1</span> (<span class="gene" id="21629682-1-27-31">PON1</span>) prevents oxidation of low density lipoprotein cholesterol (LDL-C) and hydrolyzes the oxidized form, therefore preventing the development of <span class="disease" id="21629682-1-173-188">atherosclerosis</span>. | CTD_human |
1 | 0 | Biomarker | C0014544 | Epilepsy | disease | epilepsy | 57526 | PCDH19 | protocadherin 19 | CTD_human | 18,469,813 | X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. | 0.211524 | X-linked <span class="gene" id="18469813-0-9-25">protocadherin 19</span> mutations cause female-limited <span class="disease" id="18469813-0-57-65">epilepsy</span> and cognitive impairment. | CTD_human |
1 | 0 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | NSCLC | 1571 | CYP2E1 | CYP2E1 | CTD_human | 16,142,352 | A tandem repeat polymorphism in the 5'-flanking region of the CYP2E1 gene was investigated in non-small cell lung carcinoma (NSCLC) patients to clarify the relationship between CYP2E1 gene polymorphism and lung cancer susceptibility. | 0.201923 | A tandem repeat polymorphism in the 5'-flanking region of the <span class="gene" id="16142352-2-62-68">CYP2E1</span> gene was investigated in <span class="disease" id="16142352-2-94-123">non-small cell lung carcinoma</span> (<span class="disease" id="16142352-2-125-130">NSCLC</span>) patients to clarify the relationship between <span class="gene" id="16142352-2-177-183">CYP2E1</span> gene polymorphism and lung cancer susceptibility. | CTD_human |
null | null | Negative | MESH:D054990 | null | null | idiopathic pulmonary fibrosis | 24498 | null | IL-6 | null | 28,115,235 | Pirfenidone, a recently approved treatment for idiopathic pulmonary fibrosis (IPF), significantly counteracted bleomycin-induced pro-fibrotic genes expression, but did not exert significant effects on IL-1b and IL-6. | null | null | null |
null | null | Negative | MESH:D001943 | null | null | breast cancer | 70044 | null | Star-PAP | null | 28,151,486 | In this study, we observed decreased expression of Star-PAP in breast cancer cell lines and tissues. | null | null | null |
null | null | Negative | MESH:D017202 | null | null | MI | 84351 | null | IKKb | null | 28,142,118 | Also, highly expressed p-JNK, p-ERK, p-p38, p-NF-kBp65, p-IkBa, p-IKKa and p-IKKb in MI rats were restored respectively by DGBUT treatment. | null | null | null |
1 | 0 | Biomarker | C0242383 | Age related macular degeneration | disease | AMD | 8878 | SQSTM1 | SQSTM1 | CTD_human | 23,922,739 | Interestingly, when compared to human controls, AMD donor samples show strong SQSTM1/p62 rather than ELAVL1/HuR accumulation in the drusen rich macular area suggesting impaired autophagy in the pathology of AMD. | 0.2 | Interestingly, when compared to human controls, <span class="disease" id="23922739-11-48-51">AMD</span> donor samples show strong <span class="gene" id="23922739-11-78-84">SQSTM1</span>/p62 rather than ELAVL1/HuR accumulation in the drusen rich macular area suggesting impaired autophagy in the pathology of <span class="disease" id="23922739-11-207-210">AMD</span>. | CTD_human |
12 | 0 | Biomarker | C0027819 | Neuroblastoma | disease | neuroblastoma | 238 | ALK | ALK | CTD_human | 20,576,349 | All-trans retinoic acid downregulates ALK in neuroblastoma cell lines and induces apoptosis in neuroblastoma cell lines with activated ALK. | 0.443284 | All-trans retinoic acid downregulates <span class="gene" id="20576349-0-38-41">ALK</span> in <span class="disease" id="20576349-0-45-58">neuroblastoma</span> cell lines and induces apoptosis in <span class="disease" id="20576349-0-95-108">neuroblastoma</span> cell lines with activated <span class="gene" id="20576349-0-135-138">ALK</span>. | CTD_human;ORPHANET |
null | null | Negative | MESH:D010146 | null | null | pain | 11629 | null | G-1 | null | 28,191,706 | G-1 and estradiol activity on the visceral pain signaling was assessed in the mustard oil-induced abdominal pain model. | null | null | null |
2 | 0 | Biomarker | C1263846 | Attention deficit hyperactivity disorder | disease | ADHD | 1816 | DRD5 | DRD5 | CTD_human | 14,699,430 | Transmission disequilibrium testing of dopamine-related candidate gene polymorphisms in ADHD: confirmation of association of ADHD with DRD4 and DRD5. | 0.224201 | Transmission disequilibrium testing of dopamine-related candidate gene polymorphisms in <span class="disease" id="14699430-0-88-92">ADHD</span>: confirmation of association of <span class="disease" id="14699430-0-125-129">ADHD</span> with DRD4 and <span class="gene" id="14699430-0-144-148">DRD5</span>. | CTD_human |
null | null | Negative | MESH:D000592 | null | null | RA | 216 | null | RALDH-1 | null | 28,087,752 | Localisation of RA synthetic (RALDH-1) and degrading (cytochrome P450 subfamily 26 A1 (CYP26A1)) enzymes in human lung was determined by immunofluorescence. | null | null | null |
3 | 52 | Biomarker | C0007194 | Hypertrophic Cardiomyopathy | disease | HCM | 4607 | MYBPC3 | MYBPC3 | CTD_human | 23,816,408 | This observation underscores the significance of insertions into the coding sequence of the MYBPC3 gene for the development and pathogenesis of HCM. | 0.496363 | This observation underscores the significance of insertions into the coding sequence of the <span class="gene" id="23816408-5-92-98">MYBPC3</span> gene for the development and pathogenesis of <span class="disease" id="23816408-5-144-147">HCM</span>. | CTD_human;HPO |
null | null | Negative | MESH:D010190 | null | null | pancreatic islet tumors | 353156 | null | EGFL7 | null | 28,022,950 | Anti-EGFL7 prolongs survival of mice bearing invasive pancreatic islet tumors driven by the large T antigen, and reduces vascular density and perfusion in the tumors. | null | null | null |
null | null | Negative | MESH:D016510 | null | null | angiogenesis | 6778 | null | STAT6 | null | 28,032,600 | Interestingly, GM1-stimulated macrophages secreted monocyte chemoattractant protein-1 (MCP-1/CCL2) through a CD206/yc/STAT6-mediated signaling pathway and induced angiogenesis. | null | null | null |
1 | 0 | Biomarker | C0149721 | Left Ventricular Hypertrophy | disease | left ventricular hypertrophy | 1636 | ACE | angiotensin converting enzyme | CTD_human | 8,349,331 | Systolic blood pressure, plasma renin activity, and cardiac angiotensin converting enzyme activity of L-NAME rats with left ventricular hypertrophy were significantly higher than those of the subgroup without.(ABSTRACT TRUNCATED AT 250 WORDS) | 0.396742 | Systolic blood pressure, plasma renin activity, and cardiac <span class="gene" id="8349331-6-60-89">angiotensin converting enzyme</span> activity of L-NAME rats with <span class="disease" id="8349331-6-119-147">left ventricular hypertrophy</span> were significantly higher than those of the subgroup without.(ABSTRACT TRUNCATED AT 250 WORDS) | CTD_human |
null | null | Negative | MESH:D011125 | null | null | adenomatous polyposis coli | 11789 | null | Apc | null | 28,082,422 | Msi-1 targets include the tumor suppressor adenomatous polyposis coli (Apc), a Wnt pathway antagonist lost in 80% of all colorectal cancers. | null | null | null |
2 | 3 | Biomarker | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | type 2 diabetes | 6928 | HNF1B | TCF2 | CTD_human | 17,603,485 | Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. | 0.683991 | Two variants on chromosome 17 confer prostate cancer risk, and the one in <span class="gene" id="17603485-0-74-78">TCF2</span> protects against <span class="disease" id="17603485-0-96-111">type 2 diabetes</span>. | CTD_human;HPO;UNIPROT |
null | null | Negative | MESH:D004194 | null | null | organ injury/dysfunction | 24185 | null | Akt | null | 28,059,970 | CONCLUSIONS: Artesunate attenuated the organ injury/dysfunction associated with HS by a mechanism that involves the activation of the Akt-endothelial nitric oxide synthase survival pathway, and the inhibition of glycogen synthase kinase-3b and nuclear factor kappa B. | null | null | null |
null | null | Negative | MESH:C565346 | null | null | deficient TSC1/TSC2 | 207 | null | AKT | null | 28,013,293 | Moreover, ablation of OPN by deficient TSC1/TSC2 complex contributed to inactivation of AKT in TSC cells. | null | null | null |
1 | 0 | Biomarker | C0004763 | Barrett Esophagus | disease | Barrett esophagus | 6750 | SST | SST | CTD_human | 17,999,418 | SST promoter hypermethylation is a common event in human esophageal carcinomas and is related to early neoplastic progression in Barrett esophagus. | 0.200275 | <span class="gene" id="17999418-11-0-3">SST</span> promoter hypermethylation is a common event in human esophageal carcinomas and is related to early neoplastic progression in <span class="disease" id="17999418-11-129-146">Barrett esophagus</span>. | CTD_human |
3 | 0 | Biomarker | C0008925 | Cleft Palate | disease | cleft palate | 4487 | MSX1 | Msx1 | CTD_human | 12,163,415 | Rescue of cleft palate in Msx1-deficient mice by transgenic Bmp4 reveals a network of BMP and Shh signaling in the regulation of mammalian palatogenesis. | 0.431525 | Rescue of <span class="disease" id="12163415-0-10-22">cleft palate</span> in <span class="gene" id="12163415-0-26-30">Msx1</span>-deficient mice by transgenic Bmp4 reveals a network of BMP and Shh signaling in the regulation of mammalian palatogenesis. | CTD_human;HPO |
null | null | Negative | MESH:D018149 | null | null | impaired glucose homeostasis | 11652 | null | akt2 | null | 28,132,765 | Similar to observations in akt2-null mice, akt2-null zebrafish display impaired glucose homeostasis. | null | null | null |
null | null | Negative | MESH:D014766 | null | null | viremia | 26503 | null | aspartate aminotransferase | 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 |
null | null | Negative | MESH:D008231 | null | null | lymphopenia | 13609 | null | S1P | null | 28,082,452 | T-cell egress from lymph nodes was found to be a critical initial step for the onset of hypertension as fingolimod, a S1P-receptor agonist sequestering lymphocytes in the lymph nodes and inducing lymphopenia, blunted BP responses to AngII. | null | null | null |
1 | 0 | Biomarker | C0001430 | Adenoma | group | adenomas | 492 | ATP2B3 | ATP2B3 | CTD_human | 23,416,519 | Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. | 0.201099 | Somatic mutations in ATP1A1 and <span class="gene" id="23416519-0-32-38">ATP2B3</span> lead to aldosterone-producing <span class="disease" id="23416519-0-69-77">adenomas</span> and secondary hypertension. | CTD_human |
1 | 0 | Biomarker | C0036572 | Seizures | phenotype | seizures | 135 | ADORA2A | Adenosine A2A receptor | CTD_human | 19,488,739 | Adenosine A2A receptor deficient mice are partially resistant to limbic seizures. | 0.200275 | <span class="gene" id="19488739-0-0-22">Adenosine A2A receptor</span> deficient mice are partially resistant to limbic <span class="disease" id="19488739-0-72-80">seizures</span>. | CTD_human |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.