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 | 1 | Biomarker | C0023343 | Leprosy | disease | leprosy | 283234 | CCDC88B | CCDC88B | CTD_human | 25,642,632 | Besides confirming all previously published loci, we discovered six new susceptibility loci, and further gene prioritization analysis of these loci implicated BATF3, CCDC88B and CIITA-SOCS1 as new susceptibility genes for leprosy. | 0.200275 | Besides confirming all previously published loci, we discovered six new susceptibility loci, and further gene prioritization analysis of these loci implicated BATF3, <span class="gene" id="25642632-4-166-173">CCDC88B</span> and CIITA-SOCS1 as new susceptibility genes for <span class="disease" id="25642632-4-222-229">leprosy</span>. | CTD_human |
1 | 0 | Biomarker | C0035579 | Rickets | disease | rickets | 5741 | PTH | PTH | CTD_human | 10,375,030 | The reduction in the PTH/PTHrP receptor gene expression in rickets may be due to the high plasma levels of PTH. | 0.201923 | The reduction in the <span class="gene" id="10375030-7-21-24">PTH</span>/PTHrP receptor gene expression in <span class="disease" id="10375030-7-59-66">rickets</span> may be due to the high plasma levels of <span class="gene" id="10375030-7-107-110">PTH</span>. | CTD_human |
null | null | Negative | MESH:D054198 | null | null | B-ALL | 13730 | null | EMP1 | null | 28,190,000 | Among them are EMP1, which was recently implicated in B-ALL proliferation and prednisolone resistance, and the novel target CTNND1, encoding P120-catenin. | null | null | null |
4 | 0 | Therapeutic | C0020429 | Hyperalgesia | phenotype | hyperalgesia | 3557 | IL1RN | IL-1ra | CTD_human | 8,864,563 | Interleukin-1 receptor antagonist (IL-1ra 0.1 microgram) reduced the development of SP-induced hyperalgesia up to 4 h after administration, but did not reverse an established hyperalgesia. | 0.28 | <span class="gene" id="8864563-9-0-33">Interleukin-1 receptor antagonist</span> (<span class="gene" id="8864563-9-35-41">IL-1ra</span> 0.1 microgram) reduced the development of SP-induced <span class="disease" id="8864563-9-95-107">hyperalgesia</span> up to 4 h after administration, but did not reverse an established <span class="disease" id="8864563-9-175-187">hyperalgesia</span>. | CTD_human |
1 | 0 | Biomarker | C0152013 | Adenocarcinoma of lung (disorder) | disease | lung (adenocarcinoma | 9582 | APOBEC3B | APOBEC3B | CTD_human | 23,852,168 | Notably, APOBEC3B is upregulated, and its preferred target sequence is frequently mutated and clustered in at least six distinct cancers: bladder, cervix, lung (adenocarcinoma and squamous cell carcinoma), head and neck, and breast. | 0.200275 | Notably, <span class="gene" id="23852168-5-9-17">APOBEC3B</span> is upregulated, and its preferred target sequence is frequently mutated and clustered in at least six distinct cancers: bladder, cervix, <span class="disease" id="23852168-5-155-175">lung (adenocarcinoma</span> and squamous cell carcinoma), head and neck, and breast. | CTD_human |
null | null | Negative | MESH:D007951 | null | null | myeloid differentiation | 21898 | null | Toll-like receptor 4 | null | 28,154,251 | Treatment with HSYA also alleviated increased expressions of tumor necrosis factor (TNF)-a, interleukin (IL)-1b, IL-6, transforming growth factor (TGF)-b1, collagen (Col) I, Col III, a-smooth muscle actin (a-SMA), myeloid differentiation (MD)-2, Toll-like receptor 4 (TLR4) and cluster differentiation (CD)14 at the mRNA (RT-PCR) and protein levels (Western blot and enzyme-linked immuno sorbent assay). | null | null | null |
null | null | Negative | MESH:C563262 | null | null | central corneal thickness | 1392 | null | corneal resistance factor | null | 28,068,950 | The secondary aim was to investigate whether corneal resistance factor (CRF) and central corneal thickness (CCT) differ between patient groups. | null | null | null |
null | null | Negative | MESH:D014085 | null | null | migration | 717 | null | CO2 | null | 28,045,948 | Herein, we investigated the effect of LLLT with a CO2 laser on fibroblast proliferation and migration. | null | null | null |
1 | 0 | Biomarker | C0017551 | Gilbert Disease (disorder) | disease | GS | 7361 | UGT1A | UGT1A | CTD_human | 22,213,127 | Seventy-six percent of GS and only 9% of HBD were homozygous for the variant haplotype spanning four UGT1A genes. | 0.205495 | Seventy-six percent of <span class="disease" id="22213127-8-23-25">GS</span> and only 9% of HBD were homozygous for the variant haplotype spanning four <span class="gene" id="22213127-8-101-106">UGT1A</span> genes. | CTD_human |
null | null | Negative | MESH:D010381 | null | null | PHA | 177117 | null | OSM-9 | null | 28,195,191 | A repulsive concentration of IAA induces calcium elevations in PHA/PHB and both OSM-9 and TAX-4 are essential for IAA-sensing in PHA/PHB. | null | null | null |
null | null | Negative | MESH:D064420 | null | null | Cytotoxicity | 625249 | null | GPx4 | null | 28,203,523 | Cytotoxicity measured through LDH activity, lipid peroxidation immunostained for 4-hydroxynonenal, cell viability, and cell death were compared between cells transfected with either GPx4 siRNA or scrambled control siRNA. | null | null | null |
null | null | Negative | MESH:D007249 | null | null | Ureteral inflammation | 100520490 | null | Gli1 | null | 28,188,758 | Ureteral inflammation and expression of Sonic Hedgehog (Shh) and the transcriptional activator Gli1 (the downstream target of active Hedgehog signaling) were assessed histologically and by immunohistochemistry, respectively. | null | null | null |
null | null | Negative | MESH:D006849 | null | null | hydrocephalus | 25439 | null | PAR-1 | null | 28,155,585 | PAR-1 stimulation tended to reverse dabigatran's effects on post-haemorrhagic hydrocephalus development. | null | null | null |
null | null | Negative | MESH:D018287 | null | null | large cell carcinoma | 6317 | null | SCC | null | 28,022,171 | RESULTS: p characteristics: 51 males; median age, 59; 33 smokers, 26 ex-smokers; 49 adenocarcinoma, 10 large cell carcinoma (LCC), 18 squamous cell carcinoma (SCC), 8 SCLC. | null | null | null |
null | null | Negative | MESH:D007710 | null | null | Klebsiella | 81502 | null | spp | null | 28,072,493 | (n = 40, 10.6%) and Klebsiella spp (n = 38, 10.1%). | null | null | null |
64 | 0 | Biomarker | C0002871 | Anemia | disease | anemia | 2056 | EPO | rHuEPO-beta | CTD_human | 12,820,454 | Our data suggest that rHuEPO-beta correctable CAB-induced anemia occurs in 14.3% of prostate cancer patients after 6 months of therapy. | 0.24092 | Our data suggest that <span class="gene" id="12820454-14-22-33">rHuEPO-beta</span> correctable CAB-induced <span class="disease" id="12820454-14-58-64">anemia</span> occurs in 14.3% of prostate cancer patients after 6 months of therapy. | CTD_human |
null | null | Negative | MESH:D005921 | null | null | glomerulonephritis | 60498 | null | IgA nephropathy | null | 28,042,675 | The severity of IgA nephropathy (IgAN), the most common primary glomerulonephritis, is judged on the basis of histologic and clinical features. | null | null | null |
null | null | Negative | MESH:C565730 | null | null | autoimmune attack in Type 1 diabetes | 3630 | null | insulin | null | 28,186,081 | An ability to convert between pancreatic islet cell types may provide a new approach to replace insulin-secreting b cells destroyed by autoimmune attack in Type 1 diabetes. | null | null | null |
1 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | hepatocellular carcinoma | 4204 | MECP2 | MeCP2 | CTD_human | 26,189,965 | Melittin induces PTCH1 expression by down-regulating MeCP2 in human hepatocellular carcinoma SMMC-7721 cells. | 0.281099 | Melittin induces PTCH1 expression by down-regulating <span class="gene" id="26189965-0-53-58">MeCP2</span> in human <span class="disease" id="26189965-0-68-92">hepatocellular carcinoma</span> SMMC-7721 cells. | CTD_human |
1 | 0 | Biomarker | C0005695 | Bladder Neoplasm | disease | bladder cancer | 4016 | LOXL1 | LOXL1 | CTD_human | 17,456,585 | LOXL1 and LOXL4 are epigenetically silenced and can inhibit ras/extracellular signal-regulated kinase signaling pathway in human bladder cancer. | 0.200275 | <span class="gene" id="17456585-0-0-5">LOXL1</span> and LOXL4 are epigenetically silenced and can inhibit ras/extracellular signal-regulated kinase signaling pathway in human <span class="disease" id="17456585-0-129-143">bladder cancer</span>. | CTD_human |
null | null | Negative | MESH:D013959 | null | null | hypothalamus-pituitary-thyroid (HPT) axis | 499766 | null | thyroid transcription factor 1 | null | 28,054,989 | DEHP treatment influenced the levels of rats' thyrotropin releasing hormone receptor (TRHr), Deiodinases 1 (D1), thyroid stimulating hormone beta (TSHb), sodium iodide symporter (NIS), thyroid stimulating hormone receptor (TSHr), thyroperoxidase (TPO), thyroid transcription factor 1 (TTF-1), and thyroglobulin (TG) mRNA/protein expression in the hypothalamus-pituitary-thyroid (HPT) axis and decreased urine iodine. | null | null | null |
null | null | Negative | MESH:D005355 | null | null | fibrosis | 103213 | null | Traf3ip2 | null | 28,053,087 | Furthermore, Traf3ip2 gene deletion blunts adverse remodeling 12 weeks post-I/R, as evidenced by reduced hypertrophy, fibrosis, and contractile dysfunction. | null | null | null |
null | null | Negative | OMIM:252500 | null | null | ICD | 351 | null | APP | null | 28,168,961 | While most of these studies attribute these changes to the APP cleavage product Ab, in recent years it became apparent that the APP intracellular domain (APP-ICD) might play a role in regulating synaptic plasticity. | null | null | null |
68 | 0 | Therapeutic | C0020538 | Hypertensive disease | group | hypertension | 5443 | POMC | ACTH | CTD_human | 6,100,240 | Failure of neomycin to modify ACTH induced hypertension in sheep. | 0.203846 | Failure of neomycin to modify <span class="gene" id="6100240-0-30-34">ACTH</span> induced <span class="disease" id="6100240-0-43-55">hypertension</span> in sheep. | CTD_human |
1 | 0 | Therapeutic | C0025202 | melanoma | disease | melanoma | 1493 | CTLA4 | CTLA-4 | CTD_human | 21,802,280 | In 2011 immunomodulation with ipilimumab, a monoclonal antibody targeting the ligand CTLA-4, has been approved for patients with advanced melanoma in first- and second-line treatment by the Food and Drug Administration (FDA) and in second-line treatment by the European Medicines Agency (EMA). | 0.217357 | In 2011 immunomodulation with ipilimumab, a monoclonal antibody targeting the ligand <span class="gene" id="21802280-4-85-91">CTLA-4</span>, has been approved for patients with advanced <span class="disease" id="21802280-4-138-146">melanoma</span> in first- and second-line treatment by the Food and Drug Administration (FDA) and in second-line treatment by the European Medicines Agency (EMA). | CTD_human |
1 | 0 | Biomarker | C0085682 | Hypophosphatemia | phenotype | hypophosphatemia | 6569 | SLC34A1 | Npt2 | CTD_human | 9,560,283 | Homozygous mutants (Npt2(-/-)) exhibit increased urinary Pi excretion, hypophosphatemia, an appropriate elevation in the serum concentration of 1,25-dihydroxyvitamin D with attendant hypercalcemia, hypercalciuria and decreased serum parathyroid hormone levels, and increased serum alkaline phosphatase activity. | 0.401374 | Homozygous mutants (<span class="gene" id="9560283-3-20-24">Npt2</span>(-/-)) exhibit increased urinary Pi excretion, <span class="disease" id="9560283-3-71-87">hypophosphatemia</span>, an appropriate elevation in the serum concentration of 1,25-dihydroxyvitamin D with attendant hypercalcemia, hypercalciuria and decreased serum parathyroid hormone levels, and increased serum alkaline phosphatase activity. | CTD_human;HPO |
4 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 5743 | PTGS2 | COX-2 | CTD_human | 15,834,289 | Our data also suggest a role for increased oxidative stress, which is at least in part dependent on enhanced COX-2 expression, in the mechanism(s) of enhanced aortic contractility in response to norepinephrine during DOCA-salt hypertension. | 0.205154 | Our data also suggest a role for increased oxidative stress, which is at least in part dependent on enhanced <span class="gene" id="15834289-9-109-114">COX-2</span> expression, in the mechanism(s) of enhanced aortic contractility in response to norepinephrine during DOCA-salt <span class="disease" id="15834289-9-227-239">hypertension</span>. | CTD_human |
2 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | HCC | 7298 | TYMS | TS | CTD_human | 18,230,555 | The relative mRNA level of orotate phosphoribosyltransferase (OPRT), ribonucleotide reductase (RNR), dihydropyrimidine dehydrogenase (DPD) and target enzyme thymidylate synthase (TS), were analyzed in 30 matched samples of HCC (T) and non-tumor tissue (NT) using quantitative RT-PCR. | 0.209195 | The relative mRNA level of orotate phosphoribosyltransferase (OPRT), ribonucleotide reductase (RNR), dihydropyrimidine dehydrogenase (DPD) and target enzyme <span class="gene" id="18230555-3-157-177">thymidylate synthase</span> (<span class="gene" id="18230555-3-179-181">TS</span>), were analyzed in 30 matched samples of <span class="disease" id="18230555-3-223-226">HCC</span> (T) and non-tumor tissue (NT) using quantitative RT-PCR. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | cancer | 26413 | null | Erk | null | 28,142,436 | In a H827 xenograft study, NanoPro was able to detect and distinguish human Erk1 isoform from mouse Erk1 based on their pI difference, and clearly demonstrated that erlotinib effectively inhibited Erk phosphorylation in human xenograft cancer cells but not in surrounding mouse stromal cells. | null | null | null |
3 | 0 | Therapeutic | C0030193 | Pain | phenotype | pain | 5443 | POMC | ACTH | CTD_human | 4,345,333 | Cortisol, growth hormone response, and pain following tetracosactrin depot and ACTH gel. | 0.202747 | Cortisol, growth hormone response, and <span class="disease" id="4345333-0-39-43">pain</span> following tetracosactrin depot and <span class="gene" id="4345333-0-79-83">ACTH</span> gel. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 15370 | null | Nur77 | null | 28,170,411 | However, the role of Nur77 in tumor microenvironment remains elusive. | null | null | null |
null | null | Negative | MESH:D009765 | null | null | obesity | 26365 | null | CEACAM1 | null | 28,184,213 | Together, this emphasizes that loss of hepatic CEACAM1 links NAFLD to insulin resistance and obesity. | null | null | null |
null | null | Negative | MESH:D015419 | null | null | Hereditary spastic paraplegia | 65055 | null | SPG31 | null | 28,007,911 | Hereditary spastic paraplegia, SPG31, is a rare neurological disorder caused by mutations in REEP1 gene encoding the microtubule-interacting protein, REEP1. | null | null | null |
null | null | Negative | MESH:D000795 | null | null | Fabry disease | 16534 | null | KCa3.1 | null | 28,197,106 | Recent studies suggest modulation of KCa3.1 by omega-3 fatty acids as negative modulators and impaired KCa3.1 functions in the inherited lysosomal storage disorder (LSD), Fabry disease (FD). | null | null | null |
4 | 0 | Biomarker | C0001430 | Adenoma | group | adenomas | 324 | APC | adenomatous polyposis coli | CTD_human | 10,383,901 | Min/+ mice are heterozygous for a nonsense mutation in the adenomatous polyposis coli gene and spontaneously develop multiple intestinal adenomas, primarily in the small intestine. | 0.27588 | Min/+ mice are heterozygous for a nonsense mutation in the <span class="gene" id="10383901-2-59-85">adenomatous polyposis coli</span> gene and spontaneously develop multiple intestinal <span class="disease" id="10383901-2-137-145">adenomas</span>, primarily in the small intestine. | CTD_human |
1 | 0 | Biomarker | C0028768 | Obsessive-Compulsive Disorder | disease | OCD | 26050 | SLITRK5 | Slitrk5 | CTD_human | 20,418,887 | Thus, our studies identify Slitrk5 as an essential molecule at corticostriatal synapses and provide a new mouse model of OCD-like behaviors. | 0.280275 | Thus, our studies identify <span class="gene" id="20418887-7-27-34">Slitrk5</span> as an essential molecule at corticostriatal synapses and provide a new mouse model of <span class="disease" id="20418887-7-121-124">OCD</span>-like behaviors. | CTD_human |
null | null | Negative | MESH:D008103 | null | null | liver fibrosis | 21803 | null | TGF-b | 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 |
3 | 0 | Biomarker | C0004775 | Bartter Disease | disease | Bartter's syndrome | 5972 | REN | renin | CTD_human | 3,519,017 | Dynamic changes in plasma inactive renin levels in Bartter's syndrome after administration of captopril and angiotensin II. | 0.200824 | Dynamic changes in plasma inactive <span class="gene" id="3519017-0-35-40">renin</span> levels in <span class="disease" id="3519017-0-51-69">Bartter's syndrome</span> after administration of captopril and angiotensin II. | CTD_human |
11 | 4 | Biomarker | C0023467 | Leukemia, Myelocytic, Acute | disease | acute myeloid leukemia | 2322 | FLT3 | FLT3 | CTD_human | 23,906,301 | Overexpression of Bcl2 protein predicts chemoresistance in acute myeloid leukemia: its correlation with FLT3. | 0.52 | Overexpression of Bcl2 protein predicts chemoresistance in <span class="disease" id="23906301-0-59-81">acute myeloid leukemia</span>: its correlation with <span class="gene" id="23906301-0-104-108">FLT3</span>. | CTD_human |
null | null | Negative | MESH:D057174 | null | null | frontotemporal lobar degeneration | 71514 | null | SFPQ | null | 28,147,269 | Hippocampus-specific FUS- or SFPQ-knockdown mice exhibit frontotemporal lobar degeneration (FTLD)-like behaviors, reduced adult neurogenesis, accumulation of phosphorylated tau, and hippocampal atrophy with neuronal loss through an increased 4R-T/3R-T ratio. | null | null | null |
null | null | Negative | MESH:C537751 | null | null | OIS | 5925 | null | RB1 | null | 28,002,790 | SV40-TAg inhibits TP53/CDKN1A and CDKN2A/RB1, two pathways critical for OIS induction and maintenance. | null | null | null |
1 | 0 | Biomarker | C3463824 | MYELODYSPLASTIC SYNDROME | group | myelodysplasia | 54809 | SAMD9 | MIRAGE | CTD_human | 27,182,967 | Here we define a new form of syndromic adrenal hypoplasia, which we propose to term MIRAGE (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy) syndrome. | 0.2 | Here we define a new form of syndromic adrenal hypoplasia, which we propose to term <span class="gene" id="27182967-2-84-90">MIRAGE</span> (<span class="disease" id="27182967-2-92-106">myelodysplasia</span>, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy) syndrome. | CTD_human |
1 | 0 | Biomarker | C0011881 | Diabetic Nephropathy | disease | DN | 7422 | VEGFA | VEGF | CTD_human | 18,630,688 | VEGF and Flk-1 play an important role in the pathogenesis of DN, of which over-expression may lead to the damage of kidney. | 0.227596 | <span class="gene" id="18630688-5-0-4">VEGF</span> and Flk-1 play an important role in the pathogenesis of <span class="disease" id="18630688-5-61-63">DN</span>, of which over-expression may lead to the damage of kidney. | CTD_human |
null | null | Negative | MESH:D002813 | null | null | chondrosarcoma | 100124700 | null | HOTAIR | null | 28,182,000 | However, the function and potential biological mechanisms of HOTAIR in human chondrosarcoma remain unknown. | null | null | null |
1 | 0 | Biomarker | C0279626 | Squamous cell carcinoma of esophagus | disease | esophageal squamous cell carcinoma | 3091 | HIF1A | HIF-1alpha | CTD_human | 17,201,171 | HIF-1alpha mRNA expression is differentially upregulated in esophageal squamous cell carcinoma compared to adenocarcinomas, but does not predict tumor regression or prognosis. | 0.202198 | <span class="gene" id="17201171-9-0-10">HIF-1alpha</span> mRNA expression is differentially upregulated in <span class="disease" id="17201171-9-60-94">esophageal squamous cell carcinoma</span> compared to adenocarcinomas, but does not predict tumor regression or prognosis. | CTD_human |
1 | 0 | Therapeutic | C0020437 | Hypercalcemia | disease | hypercalcemia | 4982 | TNFRSF11B | OPG | CTD_human | 15,845,617 | In both models, hypercalcemia gradually returned despite clear evidence of ongoing suppression of bone resorption by OPG. | 0.200824 | In both models, <span class="disease" id="15845617-8-16-29">hypercalcemia</span> gradually returned despite clear evidence of ongoing suppression of bone resorption by <span class="gene" id="15845617-8-117-120">OPG</span>. | CTD_human |
null | null | Negative | MESH:D056486 | null | null | hepatitis | 29141 | null | GalN | null | 28,006,924 | Recently, we have revealed that resveratrol and other natural polyphenols attenuate D-GalN/LPS-induced hepatitis. | null | null | null |
null | null | Negative | MESH:D013734 | null | null | AIS | 100188846 | null | AIS 5 | null | 28,188,356 | Stepwise logistic regression analysis identified age >= 65 years, hypotension on admission, AIS 4 and AIS 5 as independent predictors for mortality. | null | null | null |
null | null | Negative | MESH:D014071 | null | null | tooth abnormalities | 132884 | null | Evc2 | null | 28,081,373 | This concept was further supported by the observation that dental mesenchymal-specific deletion of Evc2 phenocopied the tooth abnormalities in Evc2 mutants. | null | null | null |
2 | 33 | Biomarker | C1303073 | Nicolaides Baraitser syndrome | disease | Nicolaides-Baraitser syndrome | 6595 | SMARCA2 | SMARCA2 | CTD_human | 22,366,787 | Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. | 0.601099 | Heterozygous missense mutations in <span class="gene" id="22366787-0-35-42">SMARCA2</span> cause <span class="disease" id="22366787-0-49-78">Nicolaides-Baraitser syndrome</span>. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D008659 | null | null | MetS | 1035438 | null | c=0.580 | null | 28,033,696 | The MHR had a moderate value for discriminating MetS from the non-MetS state (c=0.580, P=0.004) with the optimal cutoff point of 140 beats per min. | null | null | null |
null | null | Negative | MESH:D009202 | null | null | myocardial injury | 24952 | null | glucagon-like peptide-1 | null | 28,159,361 | OBJECTIVES: Exenatide is a glucagon-like peptide-1 analogue that mitigates myocardial injury caused by ischemia-reperfusion injury via the survival signaling pathway. | null | null | null |
1 | 0 | Biomarker | C0009952 | Febrile Convulsions | disease | febrile seizures | 112755 | STX1B | syntaxin-1B | CTD_human | 25,362,483 | Here we report the identification of mutations in STX1B, encoding syntaxin-1B, that are associated with both febrile seizures and epilepsy. | 0.200549 | Here we report the identification of mutations in <span class="gene" id="25362483-3-50-55">STX1B</span>, encoding <span class="gene" id="25362483-3-66-77">syntaxin-1B</span>, that are associated with both <span class="disease" id="25362483-3-109-125">febrile seizures</span> and epilepsy. | CTD_human |
69 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 183 | AGT | angiotensin II | CTD_human | 15,699,457 | Soluble epoxide hydrolase is a main effector of angiotensin II-induced hypertension. | 0.52 | Soluble epoxide hydrolase is a main effector of <span class="gene" id="15699457-0-48-62">angiotensin II</span>-induced <span class="disease" id="15699457-0-71-83">hypertension</span>. | CTD_human |
null | null | Negative | MESH:D008545 | null | null | metastatic melanoma | 5133;29126 | null | PD-1/PD-L1 | null | 28,148,099 | UNASSIGNED: 116 Background: PD-1/PD-L1 inhibitors (PD-1/PD-L1i) have revolutionized the treatment of patients with metastatic melanoma. | null | null | null |
1 | 0 | Biomarker | C0036341 | Schizophrenia | disease | schizophrenia | 4233 | MET | MET proto-oncogene | CTD_human | 20,080,979 | Association of genetic variation in the MET proto-oncogene with schizophrenia and general cognitive ability. | 0.202956 | Association of genetic variation in the <span class="gene" id="20080979-0-40-58">MET proto-oncogene</span> with <span class="disease" id="20080979-0-64-77">schizophrenia</span> and general cognitive ability. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 14056 | null | EZH2 | null | 28,052,011 | We show that EZH2 inhibition reactivates the expression of microRNAs with tumor suppressor functions predicted to target MM-associated oncogenes; primarily miR-125a-3p and miR-320c. | null | null | null |
null | null | Negative | MESH:D018365 | null | null | minimal residual disease | 2064 | null | HER2 | null | 28,023,422 | MHT is a good therapeutic option for patients with metastatic breast cancer who have not progressed on first-line chemotherapy, especially whose hormone receptor positive, HER2-negative and minimal residual disease after cytotoxic chemotherapy. | null | null | null |
1 | 0 | Biomarker | C0279626 | Squamous cell carcinoma of esophagus | disease | ESCC | 301 | ANXA1 | ANX1 | CTD_human | 21,517,111 | Among these identified proteins, 33 proteins including keratin 17 (KRT17), biliverdin reductase B (BLVRB), proteasome activator subunit 1 (PSME1), manganese superoxide dismutase (MnSOD), high-mobility group box-1(HMGB1), heat shock protein 70 (HSP70), peroxiredoxin (PRDX1), keratin 13 (KRT13), and so on were overexpressed, and 14 proteins including cystatin B (CSTB), tropomyosin 2 (TPM2), annexin 1 (ANX1), transgelin (TAGLN), keratin 19 (KRT19), stratifin (SFN), and so on were down-expressed in ESCC. | 0.200824 | Among these identified proteins, 33 proteins including keratin 17 (KRT17), biliverdin reductase B (BLVRB), proteasome activator subunit 1 (PSME1), manganese superoxide dismutase (MnSOD), high-mobility group box-1(HMGB1), heat shock protein 70 (HSP70), peroxiredoxin (PRDX1), keratin 13 (KRT13), and so on were overexpressed, and 14 proteins including cystatin B (CSTB), tropomyosin 2 (TPM2), <span class="gene" id="21517111-5-392-401">annexin 1</span> (<span class="gene" id="21517111-5-403-407">ANX1</span>), transgelin (TAGLN), keratin 19 (KRT19), stratifin (SFN), and so on were down-expressed in <span class="disease" id="21517111-5-500-504">ESCC</span>. | CTD_human |
null | null | Negative | MESH:D006130 | null | null | short stature | 21803 | null | TGFb | null | 28,167,493 | Smad4 is an intracellular effector of the TGFb family that has been implicated in Myhre syndrome, a skeletal dysplasia characterized by short stature, brachydactyly and stiff joints. | null | null | null |
null | null | Negative | MESH:D006973 | null | null | hypertension | 404677 | null | CIMT | null | 28,208,908 | We also tried to compare and correlate the changes in CIMT if any, among the study group with relation to family history of diabetes and hypertension. | null | null | null |
1 | 0 | Therapeutic | C0028754 | Obesity | disease | obesity | 23411 | SIRT1 | SIRT1 | CTD_human | 24,184,811 | Strategies to activate SIRT1 or FGF21 could be used to treat fatty liver disease and obesity. | 0.295738 | Strategies to activate <span class="gene" id="24184811-18-23-28">SIRT1</span> or FGF21 could be used to treat fatty liver disease and <span class="disease" id="24184811-18-85-92">obesity</span>. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | cancer | 17392 | null | MMP-3 | null | 28,036,386 | Western blot analysis revealed up-regulation of pro-apoptotic protein BAX, along with the down-regulation of anti-apoptotic proteins (BCL-XL, Survivin), migration associated proteins (p-FAK, MMP-3) and cancer stem cell (CSC) markers (CD44, Oct-4), which was probably mediated by AKT/c-Jun pathway. | null | null | null |
null | null | Negative | MESH:D009205 | null | null | myocarditis | 100126336 | null | MiR-208b | null | 28,065,693 | MiR-208b was also upregulated in DCM patients, but not in heart failure patients due to ischemic heart disease or myocarditis. | null | null | null |
6 | 0 | Biomarker | C0206180 | Ki-1+ Anaplastic Large Cell Lymphoma | disease | ALCL | 238 | ALK | ALK | CTD_human | 22,920,921 | Chromosomal translocations and single point mutations involving the Anaplastic Lymphoma Kinase (ALK) gene have been described in several human tumors, including anaplastic large cell lymphoma (ALCL), non-small cell lung cancer (NCSLC), inflammatory myofibroblastic tumor (IMT) and neuroblastoma. | 0.304596 | Chromosomal translocations and single point mutations involving the <span class="gene" id="22920921-1-68-94">Anaplastic Lymphoma Kinase</span> (<span class="gene" id="22920921-1-96-99">ALK</span>) gene have been described in several human tumors, including <span class="disease" id="22920921-1-161-191">anaplastic large cell lymphoma</span> (<span class="disease" id="22920921-1-193-197">ALCL</span>), non-small cell lung cancer (NCSLC), inflammatory myofibroblastic tumor (IMT) and neuroblastoma. | CTD_human |
1 | 0 | Biomarker | C0036572 | Seizures | phenotype | EXP1 | 54886 | PLPPR1 | PRG-3 | CTD_human | 23,266,720 | Further, E-64d-pretreated seizure rats (EXP2) showed a significant downregulation of mRNA expression of PRG-1, PRG-3 and PRG-5, cathepsin B and ApoE, as well as up-regulated nSMase and ANX7 in hippocampus when compared with EXP1 rats. | 0.2 | Further, E-64d-pretreated <span class="disease" id="23266720-10-26-33">seizure</span> rats (EXP2) showed a significant downregulation of mRNA expression of PRG-1, <span class="gene" id="23266720-10-111-116">PRG-3</span> and PRG-5, cathepsin B and ApoE, as well as up-regulated nSMase and ANX7 in hippocampus when compared with <span class="disease" id="23266720-10-224-228">EXP1</span> rats. | CTD_human |
null | null | Negative | MESH:D006528 | null | null | HCC | 192897 | null | ITGB4 | null | 28,084,395 | Here, we examined the involvement of ITGB4 in HCC and explored the underlying mechanisms. | null | null | null |
null | null | Negative | MESH:D008545 | null | null | melanoma | 21929 | null | A20 | null | 28,089,349 | Recognition of melanoma (B16F1) and lymphoma (A20) mouse cell lines by the aptamer was studied using cell binding, flow cytometry and confocal microscopy. | null | null | null |
1 | 0 | Biomarker | C0015695 | Fatty Liver | disease | hepatic steatosis | 8856 | NR1I2 | PXR | CTD_human | 25,182,422 | In mice, both ligand-dependent activation and knockout of PXR were previously shown to promote hepatic steatosis. | 0.200549 | In mice, both ligand-dependent activation and knockout of <span class="gene" id="25182422-2-58-61">PXR</span> were previously shown to promote <span class="disease" id="25182422-2-95-112">hepatic steatosis</span>. | CTD_human |
3 | 0 | Biomarker | C0027051 | Myocardial Infarction | disease | myocardial infarction | 2147 | F2 | prothrombin | CTD_human | 9,531,249 | Interaction of coagulation defects and cardiovascular risk factors: increased risk of myocardial infarction associated with factor V Leiden or prothrombin 20210A. | 0.263822 | Interaction of coagulation defects and cardiovascular risk factors: increased risk of <span class="disease" id="9531249-0-86-107">myocardial infarction</span> associated with factor V Leiden or <span class="gene" id="9531249-0-143-154">prothrombin</span> 20210A. | CTD_human |
null | null | Negative | MESH:D055985 | null | null | LTBI | 925 | null | CD8 | null | 28,043,513 | Differently, we found a higher number of TB2-associated CD8 T-cell responders in individuals with active TB than in those with LTBI. | null | null | null |
6 | 11 | Biomarker | C1845862 | Creatine deficiency, X-linked | disease | X-linked creatine-deficiency syndrome | 6535 | SLC6A8 | creatine transporter | CTD_human | 11,326,334 | We report the first X-linked creatine-deficiency syndrome caused by a defective creatine transporter. | 0.68522 | We report the first <span class="disease" id="11326334-1-20-57">X-linked creatine-deficiency syndrome</span> caused by a defective <span class="gene" id="11326334-1-80-100">creatine transporter</span>. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D001260 | null | null | T-2 | 21331 | null | mT-2 | null | 28,166,479 | UNASSIGNED: Modified-masked T-2 toxin (mT-2) formed during metabolism in edible aquatic animals may go undetected by traditional analytical methods, thereby underestimating T-2 toxicity. | null | null | null |
5 | 28 | Biomarker | C1283400 | Butyrylcholinesterase deficiency | disease | Butyrylcholinesterase deficiency | 590 | BCHE | BCHE | CTD_human | 25,054,547 | Butyrylcholinesterase deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivacurium) in patients who have mutations in the BCHE gene. | 0.400549 | <span class="disease" id="25054547-1-0-32">Butyrylcholinesterase deficiency</span> is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivacurium) in patients who have mutations in the <span class="gene" id="25054547-1-171-175">BCHE</span> gene. | CTD_human;ORPHANET |
null | null | Negative | MESH:D007674 | null | null | renal microvascular constriction | 305843 | null | Ang | null | 28,095,224 | In the present study, we compared the effects of candesartan, irbesartan and losartan on the renal microvascular constriction to locally-formed Ang II, using isolated, perfused hydronephrotic rat kidneys. | null | null | null |
68 | 0 | Therapeutic | C0020538 | Hypertensive disease | group | hypertension | 5443 | POMC | ACTH | CTD_human | 16,243,970 | This result indicates that the cardiac glycoside binding site of the alpha1 isoform can also mediate ACTH-induced hypertension. | 0.203846 | This result indicates that the cardiac glycoside binding site of the alpha1 isoform can also mediate <span class="gene" id="16243970-9-101-105">ACTH</span>-induced <span class="disease" id="16243970-9-114-126">hypertension</span>. | CTD_human |
null | null | Negative | MESH:D001943 | null | null | breast cancer | 67078 | null | P-gp | null | 28,031,414 | However, little information exists on how PBDEs interact with ABC transporters such as P-glycoprotein (P-gp) and breast cancer resistance protein (BCRP). | null | null | null |
31 | 0 | Biomarker | C0024121 | Lung Neoplasms | group | lung tumors | 3845 | KRAS | KRAS | CTD_human | 20,101,149 | The Kras mutational spectra of chemically induced lung tumors in different inbred mice mimics the spectra of KRAS mutations in adenocarcinomas in smokers versus nonsmokers. | 0.30456 | The Kras mutational spectra of chemically induced <span class="disease" id="20101149-0-50-61">lung tumors</span> in different inbred mice mimics the spectra of <span class="gene" id="20101149-0-109-113">KRAS</span> mutations in adenocarcinomas in smokers versus nonsmokers. | CTD_human |
35 | 84 | Biomarker | C0022716 | Menkes Kinky Hair Syndrome | disease | MD | 538 | ATP7A | ATP7A | CTD_human | 15,923,132 | Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations in a copper-transporting p-type ATPase (ATP7A) that normally delivers copper to the central nervous system. | 0.727934 | <span class="disease" id="15923132-1-0-14">Menkes disease</span> (<span class="disease" id="15923132-1-16-18">MD</span>) is an X-linked recessive neurodegenerative disorder caused by mutations in a copper-transporting p-type ATPase (<span class="gene" id="15923132-1-132-137">ATP7A</span>) that normally delivers copper to the central nervous system. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:C537357 | null | null | MTHFR | 541078 | null | MAT1A | null | 28,152,052 | Treatment with FA decreased the expression of MAT1A, MTR, MTHFR and tended to decrease PEMT but did not affect BHMT and MTTP. | null | null | null |
1 | 0 | Biomarker | C0085413 | Polycystic Kidney, Autosomal Dominant | disease | ADPKD | 5468 | PPARG | PPARgamma | CTD_human | 20,210,794 | These results suggest PPARgamma agonist might serve as a promising drug for the treatment of ADPKD. | 0.200275 | These results suggest <span class="gene" id="20210794-10-22-31">PPARgamma</span> agonist might serve as a promising drug for the treatment of <span class="disease" id="20210794-10-93-98">ADPKD</span>. | CTD_human |
null | null | Negative | MESH:D016889 | null | null | endometrial cancer | 1038 | null | VMAT-CDR | null | 28,037,876 | PURPOSE: To investigate the feasibility, efficiency, and delivery accuracy of volumetric modulated arc therapy with constant dose rate (VMAT-CDR) for whole-pelvic radiotherapy (WPRT) of endometrial cancer. | null | null | null |
null | null | Negative | MESH:D008545 | null | null | melanoma | 388015 | null | MART-1 | null | 28,098,866 | Notably, SUR cells were efficiently lysed by cytotoxic T lymphocytes recognizing MART-1 and gp100 melanoma differentiation antigens. | null | null | null |
3 | 0 | Biomarker | C0024121 | Lung Neoplasms | group | lung tumor | 81037 | CLPTM1L | CLPTM1L | CTD_human | 24,366,883 | CLPTM1L expression was required in vitro for morphologic transformation by H-RasV12 or K-RasV12, anchorage-independent growth, and survival of anoikis of lung tumor cells. | 0.208096 | <span class="gene" id="24366883-3-0-7">CLPTM1L</span> expression was required in vitro for morphologic transformation by H-RasV12 or K-RasV12, anchorage-independent growth, and survival of anoikis of <span class="disease" id="24366883-3-154-164">lung tumor</span> cells. | CTD_human |
null | null | Negative | MESH:C538157 | null | null | Blau syndrome | 114548 | null | cryopyrin | null | 28,129,677 | This review showed that the main monogenic auto-inflammatory syndromes are familial Mediterranean fever (FMF), mevalonate kinase deficiency (MKD), Blau syndrome, TNF receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), and pyogenic arthritis with pyoderma gangrenosum and acne (PAPA). | null | null | null |
20 | 0 | Therapeutic | C0037769 | West Syndrome | disease | infantile spasms | 5443 | POMC | ACTH | CTD_human | 6,143,199 | Renal and pancreatic calcification during treatment of infantile spasms with ACTH. | 0.203022 | Renal and pancreatic calcification during treatment of <span class="disease" id="6143199-0-55-71">infantile spasms</span> with <span class="gene" id="6143199-0-77-81">ACTH</span>. | CTD_human |
null | null | Negative | MESH:D003072 | null | null | cognitive dysfunction | 20525 | null | Glut1 | null | 28,106,060 | There is little to suggest how reduced Glut1 causes cognitive dysfunction and no optimal treatment for Glut1 DS. | null | null | null |
5 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 2332 | FMR1 | FMR1 | CTD_human | 14,755,444 | Association and transmission analysis of the FMR1 IVS10 + 14C-T variant in autism. | 0.497987 | Association and transmission analysis of the <span class="gene" id="14755444-0-45-49">FMR1</span> IVS10 + 14C-T variant in <span class="disease" id="14755444-0-75-81">autism</span>. | CTD_human;HPO |
null | null | Negative | MESH:C537156 | null | null | FIH | 54583 | null | PHD2 | null | 28,051,298 | These enzymes require molecular oxygen for catalytic activity and, as 2-oxoglutarate (2OG)-dependent oxygenases, are related to the cellular oxygen sensing HIF hydroxylases PHD2 and FIH. | null | null | null |
null | null | Negative | MESH:D014947 | null | null | cochlear injury | 104153 | null | SPL | null | 28,034,618 | Wildtype (WT) and AR deficient mice were exposed to octave band noise (8-16 kHz, 100 dB SPL) for 2 h to induce cochlear injury and hearing loss. | null | null | null |
1 | 0 | Biomarker | C0007134 | Renal Cell Carcinoma | disease | RCC | 3897 | L1CAM | L1-CAM | CTD_human | 21,097,529 | To determine the clinical usefulness of L1-CAM as a therapeutic or prognostic marker molecule in renal cancer patients, we analyzed its expression on a cohort of 282 renal cell carcinoma (RCC) patients. | 0.200275 | To determine the clinical usefulness of <span class="gene" id="21097529-2-40-46">L1-CAM</span> as a therapeutic or prognostic marker molecule in renal cancer patients, we analyzed its expression on a cohort of 282 <span class="disease" id="21097529-2-166-186">renal cell carcinoma</span> (<span class="disease" id="21097529-2-188-191">RCC</span>) patients. | CTD_human |
2 | 0 | Biomarker | C0040822 | Tremor | phenotype | tremor | 7200 | TRH | TRH | CTD_human | 416,961 | Similarly, of these peptides only TRH and MK-771 induced a tremor of the forepaws in pentobarbital-anesthetized mice. | 0.2 | Similarly, of these peptides only <span class="gene" id="416961-3-34-37">TRH</span> and MK-771 induced a <span class="disease" id="416961-3-59-65">tremor</span> of the forepaws in pentobarbital-anesthetized mice. | CTD_human |
2 | 0 | Biomarker | C0027720 | Nephrosis | disease | nephrosis | 5972 | REN | Renin | CTD_human | 6,358,456 | Renin-sodium profile in experimental nephrosis induced by puromycin aminonucleoside. | 0.2 | <span class="gene" id="6358456-0-0-5">Renin</span>-sodium profile in experimental <span class="disease" id="6358456-0-37-46">nephrosis</span> induced by puromycin aminonucleoside. | CTD_human |
null | null | Negative | MESH:D014388 | null | null | lymph node | 5464 | null | PPA1 | null | 28,202,851 | PPA1 was categorized as high expression in 58 OSC cases (41.7%), which was correlated with poor differentiation, positive lymph node (LN) metastasis and advanced FIGO (The International Federation of Gynecology and Obstetrics) stages. | null | null | null |
2 | 0 | Biomarker | C0018801 | Heart failure | disease | heart failure | 4306 | NR3C2 | mineralocorticoid receptor | CTD_human | 21,321,305 | Antagonists of the mineralocorticoid receptor improve morbidity and mortality in patients with severe heart failure. | 0.203297 | Antagonists of the <span class="gene" id="21321305-1-19-45">mineralocorticoid receptor</span> improve morbidity and mortality in patients with severe <span class="disease" id="21321305-1-102-115">heart failure</span>. | CTD_human |
1 | 0 | Biomarker | C0149721 | Left Ventricular Hypertrophy | disease | left ventricular hypertrophy | 2475 | MTOR | mTOR | CTD_human | 19,289,642 | Master regulators of protein synthesis such as mammalian target of rapamycin (mTOR) and p70S6 kinase contribute to left ventricular hypertrophy. | 0.2 | Master regulators of protein synthesis such as <span class="gene" id="19289642-1-47-76">mammalian target of rapamycin</span> (<span class="gene" id="19289642-1-78-82">mTOR</span>) and p70S6 kinase contribute to <span class="disease" id="19289642-1-115-143">left ventricular hypertrophy</span>. | CTD_human |
null | null | Negative | MESH:D007249 | null | null | inflammation | 246779 | null | IL-27 | null | 28,062,696 | IL-27, a multifunctional cytokine produced by APCs, antagonizes inflammation by affecting conventional dendritic cells (cDC), inducing IL-10, and promoting development of regulatory Tr1 cells. | null | null | null |
64 | 0 | Biomarker | C0002871 | Anemia | disease | anemia | 2056 | EPO | Epoetin | CTD_human | 19,212,639 | Optimized pro-active management of anemia by Epoetin alpha in pre-operative chemotherapy for primary breast cancer. | 0.24092 | Optimized pro-active management of <span class="disease" id="19212639-0-35-41">anemia</span> by <span class="gene" id="19212639-0-45-52">Epoetin</span> alpha in pre-operative chemotherapy for primary breast cancer. | CTD_human |
1 | 0 | Biomarker | C1956097 | Wolf-Hirschhorn Syndrome | disease | Wolf-Hirschhorn syndrome | 3954 | LETM1 | LETM1 | CTD_human | 14,706,454 | LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein. | 0.403846 | <span class="gene" id="14706454-0-0-5">LETM1</span>, a gene deleted in <span class="disease" id="14706454-0-25-49">Wolf-Hirschhorn syndrome</span>, encodes an evolutionarily conserved mitochondrial protein. | CTD_human;ORPHANET |
4 | 0 | Biomarker | C0345967 | Malignant mesothelioma | disease | malignant mesothelioma | 8314 | BAP1 | Bap1 | CTD_human | 24,928,783 | Germline mutation of Bap1 accelerates development of asbestos-induced malignant mesothelioma. | 0.205495 | Germline mutation of <span class="gene" id="24928783-0-21-25">Bap1</span> accelerates development of asbestos-induced <span class="disease" id="24928783-0-70-92">malignant mesothelioma</span>. | CTD_human |
Subsets and Splits