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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
6 | 0 | Biomarker | C0001973 | Alcoholic Intoxication, Chronic | disease | alcohol dependence | 126 | ADH1C | ADH1C | CTD_human | 16,404,797 | Studies of the ADHIBand ADH1C haplotypes, however, have shown that ADH1C*I is in linkage disequilibrium with ADHiB*2, and the ADH1C*i allele does not appear to have significant unique associations with alcohol dependence. | 0.477967 | Studies of the ADHIBand <span class="gene" id="16404797-4-24-29">ADH1C</span> haplotypes, however, have shown that <span class="gene" id="16404797-4-67-72">ADH1C</span>*I is in linkage disequilibrium with ADHiB*2, and the <span class="gene" id="16404797-4-126-131">ADH1C</span>*i allele does not appear to have significant unique associations with <span class="disease" id="16404797-4-202-220">alcohol dependence</span>. | CTD_human;PSYGENET |
null | null | Negative | OMIM:135300 | null | null | HGF | 3576 | null | IL-8 | null | 28,021,420 | High levels of baseline plasma HGF, IL-8, MIF and eotaxin were associated with shorter progression-free survival (PFS; P<0.05). | null | null | null |
null | null | Negative | MESH:C537771 | null | null | anorectal malformations | 2736 | null | GLI family zinc finger 2 | null | 28,057,877 | STUDY QUESTION: Are anorectal malformations (ARMs) associated with previous miscarriages or single nucleotide polymorphisms (SNPs) in the Bone Morphogenetic Protein 4 (BMP4) and GLI family zinc finger 2 (GLI2) genes? | null | null | null |
1 | 0 | Biomarker | C0014544 | Epilepsy | disease | epilepsy | 112755 | STX1B | STX1B | CTD_human | 25,362,483 | Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. | 0.200549 | Mutations in <span class="gene" id="25362483-0-13-18">STX1B</span>, encoding a presynaptic protein, cause fever-associated <span class="disease" id="25362483-0-75-83">epilepsy</span> syndromes. | CTD_human |
null | null | Negative | MESH:D007645 | null | null | MDM | 969 | null | CD69 | null | 28,066,424 | We measured: CD4/CD8/CD14/CD38/HLA-DR/Ki67/AnnexinV/CD69/TLR4/8 (Flow Cytometry); PBMC expression of 84 TLR pathway genes (qPCR); PBMC/MDM cytokine release (Multiplex); and plasma lipopolysaccharide (LPS)/sCD14 (LAL/ELISA). | null | null | null |
null | null | Negative | MESH:D053632 | null | null | SCID | 449530 | null | IL-17 | 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 |
null | null | Negative | MESH:D006944 | null | null | hyperglycemic | 55586 | null | MIOX | null | 28,208,054 | Bisulfite sequencing revealed that both human and mouse MIOX promoters, enriched with CpG sites, are hypomethylated and unmethylated under HG ambience and hyperglycemic states associated with increased MIOX expression. | null | null | null |
null | null | Negative | MESH:D015211 | null | null | ZS | 1037619 | null | C44:12 | null | 28,089,346 | We identified extremely long and highly polyunsaturated VLCFAs (ultra-VLC-PUFAs) such as C44:12 in ZS samples. | null | null | null |
9 | 2 | Biomarker | C0016667 | Fragile X Syndrome | disease | fragile X syndrome | 2332 | FMR1 | FMR1 | CTD_human | 16,510,718 | Fragile X mental retardation protein (FMRP), the lack of which causes fragile X syndrome, is an RNA-binding protein encoded by the FMR1 gene. | 0.948716 | Fragile X mental retardation protein (<span class="gene" id="16510718-1-38-42">FMRP</span>), the lack of which causes <span class="disease" id="16510718-1-70-88">fragile X syndrome</span>, is an RNA-binding protein encoded by the <span class="gene" id="16510718-1-131-135">FMR1</span> gene. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C3463824 | MYELODYSPLASTIC SYNDROME | group | myelodysplastic syndromes | 1030 | CDKN2B | P15INK4B | CTD_human | 17,294,728 | [Methylation of P15INK4B gene in patients with myelodysplastic syndromes and demethylating effects of drugs]. | 0.213382 | [Methylation of <span class="gene" id="17294728-0-16-24">P15INK4B</span> gene in patients with <span class="disease" id="17294728-0-47-72">myelodysplastic syndromes</span> and demethylating effects of drugs]. | CTD_human |
null | null | Negative | MESH:D007238 | null | null | infarct | 25459 | null | HMGB1 | null | 28,152,042 | Pregabalin-treated rats showed significantly improved neurological function (31% decrease in score), reduced infarct size (by 33%), fewer apoptotic cells (by 63%), and lower expression levels of HMGB1, TLR4, p-NF-kB, IL-1b, and TNF- a, compared with control rats. | null | null | null |
9 | 52 | Biomarker | C0238052 | Xanthomatosis, Cerebrotendinous | disease | CTX | 1593 | CYP27A1 | sterol 27-hydroxylase | CTD_human | 15,795,599 | Fetal and neonatal deaths among siblings of patients with CTX have been reported previously and the present case supports the contention that reduced activity of the sterol 27-hydroxylase may predispose to the development of neonatal cholestasis. | 0.638911 | Fetal and neonatal deaths among siblings of patients with <span class="disease" id="15795599-9-58-61">CTX</span> have been reported previously and the present case supports the contention that reduced activity of the <span class="gene" id="15795599-9-166-187">sterol 27-hydroxylase</span> may predispose to the development of neonatal cholestasis. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C0023890 | Liver Cirrhosis | disease | cirrhosis | 1269 | CNR2 | CB2 | CTD_human | 15,765,409 | In liver biopsy specimens from patients with active cirrhosis of various etiologies, CB2 receptors were expressed in nonparenchymal cells located within and at the edge of fibrous septa in smooth muscle alpha-actin-positive cells. | 0.200275 | In liver biopsy specimens from patients with active <span class="disease" id="15765409-7-52-61">cirrhosis</span> of various etiologies, <span class="gene" id="15765409-7-85-88">CB2</span> receptors were expressed in nonparenchymal cells located within and at the edge of fibrous septa in smooth muscle alpha-actin-positive cells. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 21943 | null | receptor activator of nuclear factor kappa-B ligand | null | 28,002,602 | The serum levels of receptor activator of nuclear factor kappa-B ligand (RANKL), osteoprotegerin (OPG), osteocalcin, and tumor necrosis factor (TNF)-a were measured using ELISA kits. | null | null | null |
1 | 0 | Biomarker | C0019158 | Hepatitis | disease | hepatitis | 142 | PARP1 | PARP-1 | CTD_human | 20,561,897 | Here, we show that hPARP-1 mice exhibit impaired survival rates accompanied by reduced hair growth and premature development of several inflammation and age-associated pathologies, such as adiposity, kyphosis, nephropathy, dermatitis, pneumonitis, cardiomyopathy, hepatitis, and anemia. | 0.200275 | Here, we show that h<span class="gene" id="20561897-6-20-26">PARP-1</span> mice exhibit impaired survival rates accompanied by reduced hair growth and premature development of several inflammation and age-associated pathologies, such as adiposity, kyphosis, nephropathy, dermatitis, pneumonitis, cardiomyopathy, <span class="disease" id="20561897-6-264-273">hepatitis</span>, and anemia. | CTD_human |
null | null | Negative | MESH:D001847 | null | null | BMD | 3719702 | null | rsp=-0.134 | null | 28,136,569 | Tumor size was negatively associated with spine BMD/Tscore ([rsp=-0.134, p=0.06], [rsp=-0.136, p=0.04], respectively, [Spearman Correlation Analysis]). | null | null | null |
null | null | Negative | MESH:D009336 | null | null | necrosis | 24498 | null | IL-6 | null | 28,142,118 | The elevated concentration of inflammatory cytokines tumor necrosis factor-alpha (TNF-a), interleukin-1 beta (IL-1b) and IL-6 in MI rats were effectively reversed by the DGBUT administration. | null | null | null |
null | null | Negative | MESH:D019294 | null | null | CTX | 8600 | null | RANKL | null | 28,023,995 | METHODS: This prospective, single arm, open-label study investigated the effect of ZOL 4 mg IV q4wks given for 4 months on bone markers (CTX, PINP, RANKL, OPG) in PC and BC pts with BM. | null | null | null |
null | null | Negative | MESH:D006984 | null | null | hypertrophy | 17087 | null | MD2 | null | 28,013,347 | Using a specific small molecule MD2 blocker L6H21 and the MD2 knockout mice, we show that MD2 deficiency significantly reduces cardiac inflammation and subsequent fibrosis, hypertrophy, and dysfunction in mice challenged with subcutaneous injection of Ang II. | null | null | null |
null | null | Negative | MESH:C536962 | null | null | TS | 4436 | null | MSH2 | null | 28,016,543 | The pathological examination of pre-treatment biopsy and operative specimen considered the immunohistochemical determination of Ki67, p53, bcl2, TS, EGFR, MLH1 and MSH2. | null | null | null |
64 | 0 | Biomarker | C0002871 | Anemia | disease | anemia | 2056 | EPO | erythropoietin | CTD_human | 11,981,781 | Treatment of ribavirin/interferon-induced anemia with erythropoietin in patients with hepatitis C. | 0.24092 | Treatment of ribavirin/interferon-induced <span class="disease" id="11981781-0-42-48">anemia</span> with <span class="gene" id="11981781-0-54-68">erythropoietin</span> in patients with hepatitis C. | CTD_human |
1 | 0 | Biomarker | C0024530 | Malaria | disease | malaria | 4055 | LTBR | lymphotoxin beta receptor | CTD_human | 15,788,153 | Testosterone responsiveness of spleen and liver in female lymphotoxin beta receptor-deficient mice resistant to blood-stage malaria. | 0.2 | Testosterone responsiveness of spleen and liver in female <span class="gene" id="15788153-0-58-83">lymphotoxin beta receptor</span>-deficient mice resistant to blood-stage <span class="disease" id="15788153-0-124-131">malaria</span>. | CTD_human |
null | null | Negative | MESH:D005671 | null | null | DM | 17067 | null | Ly-6c | null | 28,139,216 | Inflammatory macrophages (Ly-6c<sup>high</sup>) and the ratio of M1/M2 macrophages were increased while FoxP3+ Tregs counts were decreased in SF-WT but not in SF-DM mice. | null | null | null |
null | null | Negative | MESH:D008171 | null | null | pulmonary alveoli | 24887 | null | BAX | null | 28,081,472 | Morphological measurements showed that protein BAX and CHOP accumulated in the alveolar epithelium and the alveolar walls with epithelium were damaged and that the number of pulmonary alveoli decreased. | null | null | null |
null | null | Negative | MESH:D007249 | null | null | chronic inflammation | 16176 | null | IL-1b | null | 28,192,528 | Using murine models of inflammation induced by the protozoan parasite leishmania, and data obtained from patients with cutaneous leishmaniasis, we uncovered a previously unrecognized role for NLRP3 inflammasome activation and IL-1b release as a detrimental consequence of CD8+ T cell-mediated cytotoxicity, ultimately resulting in chronic inflammation. | null | null | null |
null | null | Negative | MESH:D003704 | null | null | dementia | 68942 | null | CHMP2B | null | 28,093,491 | Frontotemporal dementia (FTD)-causing mutations in the CHMP2B gene lead to the generation of mutant C-terminally truncated CHMP2B. | null | null | null |
1 | 0 | Biomarker | C0023290 | Leishmaniasis, Visceral | disease | VL | 3162 | HMOX1 | HO-1 | CTD_human | 22,461,696 | Manipulation of HO-1 pathways during VL could serve as an adjunctive therapeutic approach. | 0.200275 | Manipulation of <span class="gene" id="22461696-12-16-20">HO-1</span> pathways during <span class="disease" id="22461696-12-37-39">VL</span> could serve as an adjunctive therapeutic approach. | CTD_human |
14 | 181 | Biomarker | C0175695 | Sotos' syndrome | disease | So | 64324 | NSD1 | NSD1 | CTD_human | 15,640,245 | Blast analysis of the Sos genomic region on 5q35 revealed two complex mosaic low-copy repeats (LCRs) that are centromeric and telomeric to NSD1. | 0.627551 | Blast analysis of the <span class="disease" id="15640245-4-22-24">So</span>s genomic region on 5q35 revealed two complex mosaic low-copy repeats (LCRs) that are centromeric and telomeric to <span class="gene" id="15640245-4-139-143">NSD1</span>. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C0023892 | Biliary cirrhosis | disease | biliary cirrhosis | 1244 | ABCC2 | multidrug resistance associated protein 2 | CTD_human | 15,542,527 | Significant downregulation of the transport proteins multidrug resistance associated protein 2 and breast cancer resistance protein was observed in biliary cirrhosis. | 0.2 | Significant downregulation of the transport proteins <span class="gene" id="15542527-6-53-94">multidrug resistance associated protein 2</span> and breast cancer resistance protein was observed in <span class="disease" id="15542527-6-148-165">biliary cirrhosis</span>. | CTD_human |
2 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autistic | 6095 | RORA | RORA | CTD_human | 21,359,227 | We further show that aromatase protein is significantly reduced in the frontal cortex of autistic subjects relative to sex- and age-matched controls, and is strongly correlated with RORA protein levels in the brain. | 0.200275 | We further show that aromatase protein is significantly reduced in the frontal cortex of <span class="disease" id="21359227-4-89-97">autistic</span> subjects relative to sex- and age-matched controls, and is strongly correlated with <span class="gene" id="21359227-4-182-186">RORA</span> protein levels in the brain. | CTD_human |
null | null | Negative | MESH:D004194 | null | null | Glial hypertrophy | 39564 | null | FGFR | null | 28,019,653 | Glial hypertrophy is phenocopied when overexpressing gain-of-function mutants of the Drosophila insulin receptor (InR) and the FGFR homolog Heartless (Htl) in wild type SPG, and is suppressed by inhibiting Htl and InR activity in egh. | null | null | null |
null | null | Negative | MESH:D008067 | null | null | lipomas | 406991 | null | miR-21 | 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:D020151 | null | null | CHOP | 47769 | null | dIPC | null | 28,042,553 | In comparison with IscR, rIPC significantly up-regulated activating transcription factor 4 and CHOP, whereas dIPC up-regulated CHOP. | null | null | null |
null | null | Negative | MESH:D006965 | null | null | epidermal hyperplasia | 15111 | null | Th2 | null | 28,063,040 | Acute AD lesions are characterized by epidermal hyperplasia associated with a dominant Th2/Th17 immune response and dermal inflammatory infiltrates. | null | null | null |
null | null | Negative | MESH:D030342 | null | null | related disorders | 12257 | null | TSPO | null | 28,093,569 | It remains unclear, however, whether TSPO imaging can accurately capture low-grade inflammatory processes such as those present in schizophrenia and related disorders. | null | null | null |
null | null | Negative | MESH:D006130 | null | null | TGI | 28509 | null | DM1 | null | 28,020,592 | We developed a model to predict the effect of T-DM1 exposure and baseline pathophysiologic covariates on TGI. | null | null | null |
1 | 0 | Biomarker | C0919267 | ovarian neoplasm | disease | ovarian tumors | 6678 | SPARC | SPARC | CTD_human | 19,177,197 | Investigation of primary tumors revealed that the Sparc promoter is methylated in 68% of primary ovarian tumors and that the levels of SPARC protein decrease as the disease progresses from low to high grade. | 0.203008 | Investigation of primary tumors revealed that the <span class="gene" id="19177197-8-50-55">Sparc</span> promoter is methylated in 68% of primary <span class="disease" id="19177197-8-97-111">ovarian tumors</span> and that the levels of <span class="gene" id="19177197-8-135-140">SPARC</span> protein decrease as the disease progresses from low to high grade. | CTD_human |
null | null | Negative | MESH:D009336 | null | null | necrosis | 21943 | null | receptor activator of nuclear factor kappa-B ligand | null | 28,002,602 | The serum levels of receptor activator of nuclear factor kappa-B ligand (RANKL), osteoprotegerin (OPG), osteocalcin, and tumor necrosis factor (TNF)-a were measured using ELISA kits. | null | null | null |
49 | 94 | Biomarker | C0024591 | Malignant hyperpyrexia due to anesthesia | disease | MH | 6261 | RYR1 | RYR1 | CTD_human | 14,570,802 | Central core disease and malignant hyperthermia (MH) are both associated with mutations in the RYR1 gene. | 0.798599 | Central core disease and <span class="disease" id="14570802-1-25-47">malignant hyperthermia</span> (<span class="disease" id="14570802-1-49-51">MH</span>) are both associated with mutations in the <span class="gene" id="14570802-1-95-99">RYR1</span> gene. | CTD_human;HPO;ORPHANET;UNIPROT |
null | null | Negative | MESH:D015658 | null | null | Herpes simplex virus (HSV) ICP47 | 3077490 | null | US11 | null | 28,015,310 | METHODS: LXSN based retroviruses encoding green fluorescent protein (GFP), and two separate class I MHC suppression genes (Herpes simplex virus (HSV) ICP47 and Human Cytomegalovirus (HCMV) US11) were constructed and used to transduce NK-92 cells. | null | null | null |
1 | 1 | Biomarker | C0036341 | Schizophrenia | disease | schizophrenia | 4900 | NRGN | neurogranin | CTD_human | 17,140,601 | Association of the gene encoding neurogranin with schizophrenia in males. | 0.20981 | Association of the gene encoding <span class="gene" id="17140601-0-33-44">neurogranin</span> with <span class="disease" id="17140601-0-50-63">schizophrenia</span> in males. | CTD_human |
null | null | Negative | MESH:D003108 | null | null | Colonic mucosal IL | 21926 | null | TNF -a | null | 28,138,699 | Colonic mucosal IL -6 and TNF -a mRNA expression in the high dosage and 5 -ASA -SiO2 NP groups was significantly lower than that in the normal dosage group (P<0.05). | null | null | null |
null | null | Negative | MESH:D064420 | null | null | cytotoxicity | 635396;12739;12740 | null | claudin-3/-4 | null | 28,019,924 | Conversely, small-interfering-RNA-mediated knockdown of claudin-3/-4 expression in CD44+ CSCs significantly protected CSCs from CPE-induced-cytotoxicity. | null | null | null |
5 | 7 | Biomarker | C0020433 | Hyperbilirubinemia | disease | hyperbilirubinemia | 54658 | UGT1A1 | UGT1 | CTD_human | 20,194,756 | Developmental hyperbilirubinemia and CNS toxicity in mice humanized with the UDP glucuronosyltransferase 1 (UGT1) locus. | 0.304642 | Developmental <span class="disease" id="20194756-0-14-32">hyperbilirubinemia</span> and CNS toxicity in mice humanized with the UDP glucuronosyltransferase 1 (<span class="gene" id="20194756-0-108-112">UGT1</span>) locus. | CTD_human |
null | null | Negative | MESH:D012480 | null | null | Salmonella | 1056551 | null | SE1045 | null | 28,091,716 | The capture efficiency for Salmonella enterica subsp enterica BAA1045 (SE1045) was 84.92 3.25% at 10(6) CFU/mL and as high as 99.65 3.58% at 10(3) CFU/mL. | null | null | null |
null | null | Negative | MESH:D016510 | null | null | angiogenesis | 607 | null | BCL9 | null | 28,074,862 | It was found in our study that BCL9 was overexpressed in both primary HCC and bone metastasis specimens; loss of BCL9 inhibited the proliferation, migration and angiogenesis of HCC; and that that hypoxia mechanically induced the expression of BCL9. | null | null | null |
49 | 94 | Biomarker | C0024591 | Malignant hyperpyrexia due to anesthesia | disease | malignant hyperthermia | 6261 | RYR1 | RYR1 | CTD_human | 14,708,096 | A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation. | 0.798599 | A new mutation in the skeletal ryanodine receptor gene (<span class="gene" id="14708096-0-56-60">RYR1</span>) is potentially causative of <span class="disease" id="14708096-0-90-112">malignant hyperthermia</span>, central core disease, and severe skeletal malformation. | CTD_human;HPO;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C0030567 | Parkinson Disease | disease | PD | 2670 | GFAP | glial fibrillary acidic protein | CTD_human | 19,276,553 | IGF-I and IGF-II resistance was present in DLB but not PD frontal cortex, and associated with reduced expression of Hu, nerve growth factor, and Trk neurotrophin receptors, and increased levels of glial fibrillary acidic protein, alpha-synuclein, dopamine-beta-hydroxylase, 4-hydroxy-2-nonenal (HNE), and ubiquitin immunoreactivity. | 0.201648 | IGF-I and IGF-II resistance was present in DLB but not <span class="disease" id="19276553-4-55-57">PD</span> frontal cortex, and associated with reduced expression of Hu, nerve growth factor, and Trk neurotrophin receptors, and increased levels of <span class="gene" id="19276553-4-197-228">glial fibrillary acidic protein</span>, alpha-synuclein, dopamine-beta-hydroxylase, 4-hydroxy-2-nonenal (HNE), and ubiquitin immunoreactivity. | CTD_human |
null | null | Negative | MESH:D008107 | null | null | dysfunction | 20848 | null | STAT3 | null | 28,201,733 | Conclusions: Iso impairs glucose uptake, induces energy depletion, oxidative stress, dysfunction, and death in STAT3-deficient cardiomyocytes mainly via b1-AR stimulation. | null | null | null |
1 | 0 | Biomarker | C0334634 | Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | disease | MCL | 2475 | MTOR | mTOR | CTD_human | 17,148,679 | We also assessed mTOR signaling in MCL tumors using immunohistochemical methods and a tissue microarray: 10 of 30 (33%) expressed Ser473p-AKT, 13 of 21 (62%) Ser2448p-mTOR, 22 of 22 (100%) p-p70S6K, and 5 of 20 (25%) p-ribosomal protein S6. | 0.205205 | We also assessed mTOR signaling in <span class="disease" id="17148679-8-35-38">MCL</span> tumors using immunohistochemical methods and a tissue microarray: 10 of 30 (33%) expressed Ser473p-AKT, 13 of 21 (62%) Ser2448p-<span class="gene" id="17148679-8-167-171">mTOR</span>, 22 of 22 (100%) p-p70S6K, and 5 of 20 (25%) p-ribosomal protein S6. | CTD_human |
null | null | Negative | MESH:D003677 | null | null | Gas6-deficient | 16193 | null | IL-6 | null | 28,049,839 | We also found an imbalance in Th17/Treg ratio known to control tissue homeostasis, as Gas6-deficient dendritic cells preferentially secreted IL-6 and induced Th17 cells. | null | null | null |
null | null | Negative | MESH:D006223 | null | null | CS | 16171 | null | IL-17 | null | 28,143,472 | Interestingly, we showed that CS operated by inhibiting cytokine gene expression including IFNy, IL-17 and IL-4. | null | null | null |
null | null | Negative | MESH:D015431 | null | null | weight loss | 18145 | null | NPC1 | null | 28,031,458 | Significant improvements in liver pathology and function were achieved by this treatment regimen; however, NPC1 protein maturation and levels, disease progression, weight loss, and animal morbidity were not detectably altered. | null | null | null |
null | null | Negative | MESH:D012509 | null | null | rat sarcoma | 24525 | null | KRAS | null | 28,101,165 | Western blotting was used to explore the expression levels of extracellular signal regulated kinase (ERK)-5, Kirsten rat sarcoma viral oncogene homolog (KRAS), caspase 3 and B-cell lymphoma 2 (Bcl-2) in CNE-2Z cells following transfection with miR-143. | null | null | null |
1 | 0 | Biomarker | C0013421 | Dystonia | phenotype | dystonia | 2643 | GCH1 | GCH1 | CTD_human | 15,389,992 | Amantadine suppressed severe levodopa-induced choreic dyskinesia, which developed at initiation of levodopa therapy, in two siblings manifesting dystonia with motor delay phenotype of GTP cyclohydrolase I deficiency caused by compound heterozygous GCH1 mutations. | 0.440241 | Amantadine suppressed severe levodopa-induced choreic dyskinesia, which developed at initiation of levodopa therapy, in two siblings manifesting <span class="disease" id="15389992-1-145-153">dystonia</span> with motor delay phenotype of GTP cyclohydrolase I deficiency caused by compound heterozygous <span class="gene" id="15389992-1-248-252">GCH1</span> mutations. | CTD_human;HPO |
1 | 0 | Biomarker | C0376634 | Craniofacial Abnormalities | group | craniofacial abnormalities | 9786 | KIAA0586 | talpid(3 | CTD_human | 15,554,946 | The talpid(3) chicken mutant has a pleiotropic phenotype including polydactyly and craniofacial abnormalities. | 0.2 | The <span class="gene" id="15554946-1-4-12">talpid(3</span>) chicken mutant has a pleiotropic phenotype including polydactyly and <span class="disease" id="15554946-1-83-109">craniofacial abnormalities</span>. | CTD_human |
null | null | Negative | MESH:D009336 | null | null | necrosis | 16193 | null | IL-6 | null | 28,134,325 | In addition to IL-4, basophils produce IL-6 and tumor necrosis factor (TNF)-a in response to immunoglobulin E (IgE) crosslinking. | null | null | null |
1 | 0 | Biomarker | C0002893 | Refractory anemias | disease | refractory anemia | 7124 | TNF | tumor necrosis factor alpha | CTD_human | 10,870,480 | Effect of treatment with amifostine used as a single agent in patients with refractory anemia on clinical outcome and serum tumor necrosis factor alpha levels. | 0.207627 | Effect of treatment with amifostine used as a single agent in patients with <span class="disease" id="10870480-0-76-93">refractory anemia</span> on clinical outcome and serum <span class="gene" id="10870480-0-124-151">tumor necrosis factor alpha</span> levels. | CTD_human |
null | null | Negative | MESH:D005234 | null | null | steatosis | 11814 | null | APOC3 | null | 28,115,523 | APOC3 neither exacerbated diet-induced adiposity nor aggravated the degree of steatosis in high fructose or high fat-fed APOC3-transgenic mice. | null | null | null |
null | null | Negative | MESH:D009069 | null | null | impaired locomotor ability | 36418 | null | CG3814 | null | 28,002,605 | Knockdown of CG3814/LFG in Ddc-Gal4-expressing neurons resulted in a shortened lifespan and impaired locomotor ability, phenotypes that are strongly associated with the degeneration and loss of dopaminergic neurons. | null | null | null |
9 | 0 | Biomarker | C0007134 | Renal Cell Carcinoma | disease | RCC | 7428 | VHL | VHL | CTD_human | 10,340,905 | Our results suggest that RCC in patients with high, cumulative TRI exposure is associated with a unique mutation pattern in the VHL gene. | 0.525276 | Our results suggest that <span class="disease" id="10340905-11-25-28">RCC</span> in patients with high, cumulative TRI exposure is associated with a unique mutation pattern in the <span class="gene" id="10340905-11-128-131">VHL</span> gene. | CTD_human;HPO |
null | null | Negative | MESH:D009461 | null | null | motor deficits | 21823 | null | tyrosine hydroxylase | null | 28,144,826 | In vivo, MT-20R alleviated MPTP-induced motor deficits, raised the striatal contents of dopamine and its metabolites, and restored the expression of tyrosine hydroxylase (TH) and the number of TH-positive DA neurons in the substantia nigra. | null | null | null |
1 | 2 | Biomarker | C0024141 | Lupus Erythematosus, Systemic | disease | systemic lupus erythematosus | 54887 | UHRF1BP1 | UHRF1BP1 | CTD_human | 19,838,195 | A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. | 0.202956 | A large-scale replication study identifies TNIP1, PRDM1, JAZF1, <span class="gene" id="19838195-0-64-72">UHRF1BP1</span> and IL10 as risk loci for <span class="disease" id="19838195-0-99-127">systemic lupus erythematosus</span>. | CTD_human |
null | null | Negative | MESH:D003866 | null | null | depressive | 12288 | null | Cav1.2 | null | 28,194,001 | In the present study, we directly manipulated Cav1.3 channels in Cav1.2 dihydropyridine insensitive mutant mice and found that ventral tegmental area (VTA) Cav1.3 channels mediate cocaine-related and depressive-like behavior through a common nucleus accumbens (NAc) shell calcium-permeable a-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (CP-AMPAR) mechanism that requires GluA1 phosphorylation at S831. | null | null | null |
null | null | Negative | MESH:D015470 | null | null | AML | 6287 | null | SAA | null | 28,014,536 | RESULTS: Primary diagnoses included ALL (n=212), AML (n=205), SAA (n=113), HD/NHL (n=67), inborn errors of metabolism (IEM: n=81), and other diagnoses (n=184). | null | null | null |
null | null | Negative | MESH:D002292 | null | null | RCC | 22060 | null | p53 | null | 28,137,158 | KPT-330 increased p53 and p21 and confined them to the nucleus in both NHK and RCC cells. | null | null | null |
null | null | Negative | MESH:C566610 | null | null | axis | 3586 | null | IL-10 | null | 28,140,445 | Interestingly, p38 mitogen-activated protein kinase (MAPK) activation predominantly mediates IL-10 production; hence, H37Rv tends to induce a tolerogenic DC phenotype through expression of tolerogenic molecules in the p38 MAPK-IL-10 axis. | null | null | null |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 18 | ABAT | ABAT | CTD_human | 15,830,322 | Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT. | 0.202682 | Candidate-gene screening and association analysis at the <span class="disease" id="15830322-0-57-63">autism</span>-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and <span class="gene" id="15830322-0-142-146">ABAT</span>. | CTD_human |
2 | 0 | Therapeutic | C0025202 | melanoma | disease | melanoma | 3456 | IFNB1 | interferon-? | CTD_human | 21,846,298 | Anti-tumor effects of canine adipose tissue-derived mesenchymal stromal cell-based interferon-? gene therapy and cisplatin in a mouse melanoma model. | 0.219946 | Anti-tumor effects of canine adipose tissue-derived mesenchymal stromal cell-based <span class="gene" id="21846298-0-83-95">interferon-β</span> gene therapy and cisplatin in a mouse <span class="disease" id="21846298-0-134-142">melanoma</span> model. | CTD_human |
null | null | Negative | MESH:D018805 | null | null | sepsis | 723900 | null | miR-375 | null | 28,006,751 | Here, the functions and mechanisms of miR-375 in sepsis were revealed. | null | null | null |
null | null | Negative | MESH:D054069 | null | null | EMA | 7076 | null | TIMP1 | null | 28,020,743 | RESULTS: The SVM model integrates three clinicopathologic features (tumor diameter, preoperative hemoglobin level, adjuvant chemotherapy ) and 24 immunomarkers (Survivin, cmyc, CD44v6, MMP7, CK19, P16, PTEN, TIMP1, CyclinE, MMP2, SMAD4, VEGF, MUC2, Ecadherin, Her2, CK20, P27, APC, CD147, cmet, COX2, CDX2, MGMT, EMA). | null | null | null |
2 | 3 | Biomarker | C1855310 | Megaepiphyseal dwarfism | disease | OSMED | 1302 | COL11A2 | COL11A2 | CTD_human | 16,637,051 | Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene. | 0.682747 | <span class="disease" id="16637051-0-0-37">Oto-spondylo-megaepiphyseal dysplasia</span> (<span class="disease" id="16637051-0-39-44">OSMED</span>): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the <span class="gene" id="16637051-0-142-149">COL11A2</span> gene. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D055370 | null | null | causes lung injury | 12696 | null | Cold-inducible RNA-binding protein | null | 28,128,330 | UNASSIGNED: Cold-inducible RNA-binding protein (CIRP), released into the circulation during sepsis, causes lung injury via an as yet unknown mechanism. | null | null | null |
1 | 0 | Biomarker | C0019693 | HIV Infections | group | HIV infection | 213 | ALB | serum albumin | CTD_human | 16,903,978 | We conclude that, in developing countries where many patients may not be able to afford to pay for CD4 cell counts and viral load tests, which are the traditional markers for HIV disease, serum albumin would be a very useful surrogate test for predicting severity of HIV infection and for clinical monitoring of response to antiretroviral therapy. | 0.2 | We conclude that, in developing countries where many patients may not be able to afford to pay for CD4 cell counts and viral load tests, which are the traditional markers for <span class="disease" id="16903978-9-175-186">HIV disease</span>, <span class="gene" id="16903978-9-188-201">serum albumin</span> would be a very useful surrogate test for predicting severity of <span class="disease" id="16903978-9-267-280">HIV infection</span> and for clinical monitoring of response to antiretroviral therapy. | CTD_human |
1 | 1 | Biomarker | C0036341 | Schizophrenia | disease | schizophrenia | 406928 | MIR137 | MIR137 | CTD_human | 21,926,974 | Four other schizophrenia loci achieving genome-wide significance contain predicted targets of MIR137, suggesting MIR137-mediated dysregulation as a previously unknown etiologic mechanism in schizophrenia. | 0.209615 | Four other <span class="disease" id="21926974-4-11-24">schizophrenia</span> loci achieving genome-wide significance contain predicted targets of <span class="gene" id="21926974-4-94-100">MIR137</span>, suggesting <span class="gene" id="21926974-4-113-119">MIR137</span>-mediated dysregulation as a previously unknown etiologic mechanism in <span class="disease" id="21926974-4-190-203">schizophrenia</span>. | CTD_human |
null | null | Negative | MESH:D006623 | null | null | Von Hippel-Lindau | 6391 | null | SDHC | null | 28,099,933 | Germline mutations in the succinate dehydrogenase (SDHA, SDHB, SDHC, SDHD, SDHAF2) or Von Hippel-Lindau (VHL) genes cause hereditary paraganglioma/pheochromocytoma. | null | null | null |
null | null | Negative | MESH:D008579 | null | null | winged-helix domains | 4171;4172;4173;4174;4175;4176 | null | Mcm2-7 | null | 28,191,893 | Flexible Mcm2-7 winged-helix domains (WHDs) engage ORC-Cdc6. | null | null | null |
2 | 0 | Biomarker | C0010073 | Coronary Artery Vasospasm | disease | coronary spasm | 4846 | NOS3 | endothelial nitric oxide synthase | CTD_human | 9,737,779 | A missense Glu298Asp variant in the endothelial nitric oxide synthase gene is associated with coronary spasm in the Japanese. | 0.218954 | A missense Glu298Asp variant in the <span class="gene" id="9737779-0-36-69">endothelial nitric oxide synthase</span> gene is associated with <span class="disease" id="9737779-0-94-108">coronary spasm</span> in the Japanese. | CTD_human |
null | null | Negative | MESH:D013959 | null | null | thyroid dysfunction | 25608 | null | leptin | null | 28,097,455 | The present study is conducted to determine how zinc supplementation and deficiency affect thyroid hormones (free and total T3 and T4), melatonin, leptin, and NPY levels in thyroid dysfunction in rats. | null | null | null |
null | null | Negative | MESH:D019636 | null | null | DM | 480495 | null | GFAP | null | 28,069,688 | Using double-labelling immunofluorescence, CB2 receptor immunolabelling colocalized with GFAP but not Iba-1, indicating upregulation of CB2 receptors on astrocytes in DM-affected dogs. | null | null | null |
null | null | Negative | MESH:D014842 | null | null | von Willebrand | 1401 | null | C-reactive protein | null | 28,190,687 | Blood biomarkers were measured one every 7-8 weeks and included white blood cells (WBC), high sensitive C-reactive protein (hsCRP), tumor necrosis factor-soluble receptor-II (sTNF-RII), interleukin-6 (IL-6), and von Willebrand factor (vWF). | null | null | null |
null | null | Negative | MESH:D009369 | null | null | right-sided tumors | 292701 | null | CEA | null | 28,008,623 | On multivariate analysis, baseline CEA >200 ng/mL (HR 2.1, P = 0.051), LDH >200 U/L (HR 3.8, P < 0.05), and right-sided tumors (HR 2.8, P < 0.05) had lower OS. | null | null | null |
null | null | Negative | MESH:D007238 | null | null | infarct | 25325 | null | IL-10 | null | 28,199,737 | Then, infarct volume, brain edema, body temperature, mRNA expression of TRPV1, and serum concentrations of tumor necrosis factor-alpha (TNF-a) and IL-10 were measured. | null | null | null |
4 | 0 | Biomarker | C0001973 | Alcoholic Intoxication, Chronic | disease | alcohol dependence | 1136 | CHRNA3 | CHRNA3 | CTD_human | 18,414,406 | Using the family-based association test, we observed that a different group of polymorphisms, spanning CHRNA5-CHRNA3, demonstrate association with alcohol dependence defined by Diagnostic and Statistical Manual of Mental Disorders, 4th edn (DSM-IV) criteria. | 0.410452 | Using the family-based association test, we observed that a different group of polymorphisms, spanning CHRNA5-<span class="gene" id="18414406-5-110-116">CHRNA3</span>, demonstrate association with <span class="disease" id="18414406-5-147-165">alcohol dependence</span> defined by Diagnostic and Statistical Manual of Mental Disorders, 4th edn (DSM-IV) criteria. | CTD_human;PSYGENET |
7 | 43 | Biomarker | C0023976 | Long QT Syndrome | disease | long QT syndrome | 3784 | KCNQ1 | LQT1 | CTD_human | 15,028,050 | Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome. | 0.38006 | Additional gene variants reduce effectiveness of beta-blockers in the <span class="gene" id="15028050-0-70-74">LQT1</span> form of <span class="disease" id="15028050-0-83-99">long QT syndrome</span>. | CTD_human |
null | null | Negative | MESH:D007239 | null | null | HBV infection | 85348 | null | HBc | null | 28,196,636 | Next, 63.8% of CHC patients with schistosomiasis were exposed to HBV infection (Anti-HBc +ve) during their lifetime. | null | null | null |
1 | 0 | Biomarker | C0345967 | Malignant mesothelioma | disease | MM | 2944 | GSTM1 | GSTM1 | CTD_human | 16,697,254 | Combination of NAT2 fast acetylator and GSTM1 null genotype posed a significantly increased risk of MM in the Italian, but not in the Finnish study. | 0.203506 | Combination of NAT2 fast acetylator and <span class="gene" id="16697254-10-40-45">GSTM1</span> null genotype posed a significantly increased risk of <span class="disease" id="16697254-10-100-102">MM</span> in the Italian, but not in the Finnish study. | CTD_human |
null | null | Negative | MESH:D001943 | null | null | breast cancers | 21814 | null | TbRIII | null | 28,021,827 | UNASSIGNED: 10540 Background: We have shown that breast cancers downregulate the expression of the type III TGF-b receptor (TbRIII) tumor suppressor during tumor progression. | null | null | null |
2 | 0 | Biomarker | C1136249 | Mental Retardation, X-Linked | disease | X-linked mental retardation | 10084 | PQBP1 | polyglutamine binding protein 1 | CTD_human | 14,634,649 | Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. | 0.211495 | Mutations in the <span class="gene" id="14634649-0-17-48">polyglutamine binding protein 1</span> gene cause <span class="disease" id="14634649-0-60-87">X-linked mental retardation</span>. | CTD_human |
null | null | Negative | MESH:C562591 | null | null | XPD | 7507 | null | XPA | null | 28,014,602 | XPD, XPA, ERCC1 and XPG/ERCC1 are involved in DNA repair, and polymorphic variants in these genes can influence the efficacy of oxaliplatin. | null | null | null |
1 | 0 | Biomarker | C0334634 | Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | disease | MCL | 5293 | PIK3CD | PI3K | CTD_human | 23,676,220 | PIK3IP1, a negative PI3K regulator, appears to mediate pG1 sensitization to PI3K inhibition; it is markedly reduced in MCL tumor cells compared with normal peripheral B cells, profoundly induced in pG1 and required for pG1 sensitization to GS-1101. | 0.203022 | PIK3IP1, a negative <span class="gene" id="23676220-8-20-24">PI3K</span> regulator, appears to mediate pG1 sensitization to <span class="gene" id="23676220-8-76-80">PI3K</span> inhibition; it is markedly reduced in <span class="disease" id="23676220-8-119-122">MCL</span> tumor cells compared with normal peripheral B cells, profoundly induced in pG1 and required for pG1 sensitization to GS-1101. | CTD_human |
1 | 0 | Biomarker | C0036572 | Seizures | phenotype | seizures | 3351 | HTR1B | 5-HT1B | CTD_human | 2,533,336 | In conclusion, the present study suggests that the inhibition of pilocarpine-induced seizures may be mediated by stimulation of 5-HT1A and by blockade of 5-HT1B receptors, located probably on the cholinergic terminals. | 0.2 | In conclusion, the present study suggests that the inhibition of pilocarpine-induced <span class="disease" id="2533336-6-85-93">seizures</span> may be mediated by stimulation of 5-HT1A and by blockade of <span class="gene" id="2533336-6-154-160">5-HT1B</span> receptors, located probably on the cholinergic terminals. | CTD_human |
15 | 84 | Biomarker | C0268450 | Gitelman Syndrome | disease | Gitelman's syndrome | 6559 | SLC12A3 | NCCT | CTD_human | 10,561,751 | Finally, mutations of the thiazide-sensitive sodium-chloride cotransporter (NCCT) are associated with Gitelman's syndrome. | 0.732645 | Finally, mutations of the <span class="gene" id="10561751-4-26-74">thiazide-sensitive sodium-chloride cotransporter</span> (<span class="gene" id="10561751-4-76-80">NCCT</span>) are associated with <span class="disease" id="10561751-4-102-121">Gitelman's syndrome</span>. | CTD_human;ORPHANET;UNIPROT |
2 | 0 | Biomarker | C1458155 | Mammary Neoplasms | group | breast tumors | 2886 | GRB7 | GRB7 | CTD_human | 19,075,277 | mRNA levels of 10 BCAR genes (AKT1, AKT2, BCAR1, BCAR3, EGFR, ERBB2, GRB7, SRC, TLE3, and TRERF1) were measured in estrogen receptor-positive breast tumors using quantitative reverse-transcriptase polymerase chain reaction. | 0.203282 | mRNA levels of 10 BCAR genes (AKT1, AKT2, BCAR1, BCAR3, EGFR, ERBB2, <span class="gene" id="19075277-3-69-73">GRB7</span>, SRC, TLE3, and TRERF1) were measured in estrogen receptor-positive <span class="disease" id="19075277-3-142-155">breast tumors</span> using quantitative reverse-transcriptase polymerase chain reaction. | CTD_human |
null | null | Negative | MESH:D057174 | null | null | frontotemporal lobar degeneration | 108058 | null | CamKII | null | 28,126,008 | To mimic elevated levels of TMEM106B in frontotemporal lobar degeneration (FTLD) cases, we generated transgenic mice expressing TMEM106B under the neuronal specific promoter, CamKII. | null | null | null |
null | null | Negative | MESH:D006323 | null | null | completely arrested | 16452 | null | L-JAK2 KO | null | 28,100,771 | Using the methionine choline-deficient dietary model to induce steatohepatitis, we found that steatohepatitis development was completely arrested in L-JAK2 KO mice despite the presence of steatosis, suggesting that JAK2 is the critical factor required for inflammatory progression in the liver. | null | null | null |
1 | 1 | Biomarker | C0033847 | Pseudoxanthoma Elasticum | disease | PXE | 64132 | XYLT2 | XYLT-II | CTD_human | 16,571,645 | Here we show for the first time that variations in the XYLT-II gene are genetic co-factors in the severity of PXE. | 0.400549 | Here we show for the first time that variations in the <span class="gene" id="16571645-9-55-62">XYLT-II</span> gene are genetic co-factors in the severity of <span class="disease" id="16571645-9-110-113">PXE</span>. | CTD_human;UNIPROT |
6 | 0 | Biomarker | C0018995 | Hemochromatosis | disease | hemochromatosis | 57817 | HAMP | hepcidin | CTD_human | 16,574,947 | Targeted disruption of the hepcidin 1 gene results in severe hemochromatosis. | 0.249572 | Targeted disruption of the <span class="gene" id="16574947-0-27-35">hepcidin</span> 1 gene results in severe <span class="disease" id="16574947-0-61-76">hemochromatosis</span>. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | cancer | 395387 | null | matrix metalloproteinase 9 | 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 |
1 | 0 | Therapeutic | C0020179 | Huntington Disease | disease | Huntington's disease | 2668 | GDNF | GDNF | CTD_human | 16,943,855 | Neuroprotection by GDNF-secreting stem cells in a Huntington's disease model: optical neuroimage tracking of brain-grafted cells. | 0.203282 | Neuroprotection by <span class="gene" id="16943855-0-19-23">GDNF</span>-secreting stem cells in a <span class="disease" id="16943855-0-50-70">Huntington's disease</span> model: optical neuroimage tracking of brain-grafted cells. | CTD_human |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.