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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
9 | 40 | Biomarker | C0028860 | Oculocerebrorenal Syndrome | disease | Lowe syndrome | 4952 | OCRL | OCRL inositol polyphosphate 5-phosphatase | CTD_human | 9,430,698 | Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate. | 0.627704 | Cell lines from kidney proximal tubules of a patient with <span class="disease" id="9430698-0-58-71">Lowe syndrome</span> lack <span class="gene" id="9430698-0-77-118">OCRL inositol polyphosphate 5-phosphatase</span> and accumulate phosphatidylinositol 4,5-bisphosphate. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D009202 | null | null | myocardial ROS | 171104 | null | GPER | null | 28,032,633 | GPER activation (G1) only unraveled a modest EtOH-evoked hypotension and elevation in myocardial ROS. | null | null | null |
null | null | Negative | MESH:C536962 | null | null | TS | 4255 | null | MGMT | null | 28,147,793 | Biomarker expression differences that did not meet statistical significance: ERCC1, MGMT, PDGFRA, RRM1, SPARC, TS and TOPO1. | null | null | null |
1 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | hepatocellular carcinoma | 122953 | JDP2 | JDP2 | CTD_human | 20,214,788 | The AP-1 repressor protein, JDP2, potentiates hepatocellular carcinoma in mice. | 0.2 | The AP-1 repressor protein, <span class="gene" id="20214788-0-28-32">JDP2</span>, potentiates <span class="disease" id="20214788-0-46-70">hepatocellular carcinoma</span> in mice. | CTD_human |
4 | 0 | Biomarker | C0242422 | Parkinsonian Disorders | group | parkinsonism | 65018 | PINK1 | PARK6 | CTD_human | 11,254,447 | Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36. | 0.257888 | Localization of a novel locus for autosomal recessive early-onset <span class="disease" id="11254447-0-66-78">parkinsonism</span>, <span class="gene" id="11254447-0-80-85">PARK6</span>, on human chromosome 1p35-p36. | CTD_human |
59 | 0 | Therapeutic | C0038454 | Cerebrovascular accident | group | Stroke | 5327 | PLAT | TPA | CTD_human | 9,056,608 | We then projected the effectiveness of tissue plasminogen activator (TPA) on disability as estimated with the aid of the odds ratio from the National Institute of Neurological Disorders and Stroke (NINDS) rt-PA Stroke Trial onto our unselected sample to evaluate clinical efficiency of treatment as a function of arrival time and of hypothetical effects of educational efforts to reduce it. | 0.221398 | We then projected the effectiveness of tissue plasminogen activator (<span class="gene" id="9056608-6-69-72">TPA</span>) on disability as estimated with the aid of the odds ratio from the National Institute of Neurological Disorders and Stroke (NINDS) rt-PA <span class="disease" id="9056608-6-211-217">Stroke</span> Trial onto our unselected sample to evaluate clinical efficiency of treatment as a function of arrival time and of hypothetical effects of educational efforts to reduce it. | CTD_human |
null | null | Negative | MESH:D012640 | null | null | seizure | 230676 | null | SZT2 | null | 28,199,315 | Here we show that SZT2 (seizure threshold 2), a metazoan-specific protein mutated in epilepsy, recruits a fraction of mammalian GATOR1 and GATOR2 to form a SZT2-orchestrated GATOR (SOG) complex with an essential role in GATOR- and SESN-dependent nutrient sensing and mTORC1 regulation. | null | null | null |
1 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 8870 | IER3 | IEX-1 | CTD_human | 20,713,914 | Our results suggest that hypertension in IEX-1 knockout mice may arise primarily from impaired cAMP signaling induced by overproduction of mitochondrial reactive oxygen species in vascular smooth muscle cells and demonstrate a causal relationship between mitochondrial dysfunction and cAMP-dependent vasorelaxation. | 0.200275 | Our results suggest that <span class="disease" id="20713914-6-25-37">hypertension</span> in <span class="gene" id="20713914-6-41-46">IEX-1</span> knockout mice may arise primarily from impaired cAMP signaling induced by overproduction of mitochondrial reactive oxygen species in vascular smooth muscle cells and demonstrate a causal relationship between mitochondrial dysfunction and cAMP-dependent vasorelaxation. | CTD_human |
null | null | Negative | MESH:D018205 | null | null | perilymphatic adipose tissue | 25692 | null | PLAT | null | 28,125,531 | Previously, we showed that acute alcohol intoxication increases mesenteric lymphatic permeability, perilymphatic adipose tissue (PLAT) inflammation, and circulating lipopolysaccharide levels in rats. | null | null | null |
null | null | Negative | MESH:D011475 | null | null | overall survival | 3164 | null | HR | null | 28,169,929 | We then performed Cox proportional-hazards regression to examine breast cancer-specific survival (BCSS) and overall survival (OS) in women diagnosed between 1998 and 2007, who underwent breast-conserving surgery with radiation (breast-conserving therapy), unilateral mastectomy, or CPM, with subsequent subgroup analysis stratifying by age and HR status. | null | null | null |
null | null | Negative | MESH:D007029 | null | null | mouse hypothalamus | 21898 | null | TLR4 | null | 28,161,195 | CRS and ARS up-regulated mRNA levels of inflammation-related molecules (TNFa, IL-1b, IL-6 and TLR4) and oxidative stress molecules (gp91phox, iNOS and Nrf2) in the mouse hypothalamus. | null | null | null |
null | null | Negative | MESH:D000860 | null | null | Hypoxia | 80707 | null | Wwox | null | 28,045,433 | The tumor-suppressor Wwox lacks in almost all cancer types; the variable expression in osteosarcomas is related to lung-metastasis formation, and exogenous Wwox destabilizes HIF-1a (subunit of Hypoxia inducible Factor-1, HIF-1) affecting aerobic glycolysis. | null | null | null |
null | null | Negative | MESH:D002549 | null | null | Schilder's disease | 617 | null | BCS | null | 28,210,570 | Balo's concentric sclerosis (BCS) and Schilder's disease (SD) are two of these syndromes and can present as monophasic or in association with chronic MS. | null | null | null |
4 | 0 | Therapeutic | C1261473 | Sarcoma | disease | sarcoma | 7124 | TNF | TNFalpha | CTD_human | 17,203,757 | A combination of doxorubicin and tumor necrosis factor alpha (TNFalpha) has been proven to be very effective in the perfusional treatment of advanced soft tissue limb sarcoma both in terms of tumor necrosis and limb conservative surgery rate. | 0.203022 | A combination of doxorubicin and <span class="gene" id="17203757-1-33-60">tumor necrosis factor alpha</span> (<span class="gene" id="17203757-1-62-70">TNFalpha</span>) has been proven to be very effective in the perfusional treatment of advanced soft tissue limb <span class="disease" id="17203757-1-167-174">sarcoma</span> both in terms of tumor necrosis and limb conservative surgery rate. | CTD_human |
1 | 0 | Biomarker | C0025202 | melanoma | disease | melanoma | 5879 | RAC1 | RAC1 | CTD_human | 22,842,228 | Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. | 0.206579 | Exome sequencing identifies recurrent somatic <span class="gene" id="22842228-0-46-50">RAC1</span> mutations in <span class="disease" id="22842228-0-64-72">melanoma</span>. | CTD_human |
null | null | Negative | OMIM:143470 | null | null | CETP-deficient | 55938 | null | apoM | null | 28,126,827 | Concordant with these results, apoM was distributed mainly to the same fraction as apo AI in a CETP-deficient subject, although apoM was also detected in apo AI-poor fractions in a corresponding hypercholesterolemia subject. | null | null | null |
null | null | Negative | MESH:D002289 | null | null | NSCLC | 9201;100862695;23284;100862696 | null | CL1-5 | null | 28,076,322 | Our results showed that low dose (1 and 3 g/mL) recombinant Der p 2 protein (DP2) enhanced the migration and invasiveness of human NSCLC cell A549, H1299 and CL1-5, but nonsignificantly altered their growth. | null | null | null |
17 | 0 | Biomarker | C0020429 | Hyperalgesia | phenotype | hyperalgesia | 3827 | KNG1 | bradykinin | CTD_human | 7,881,729 | Post-treatment with S14080 dose-dependently antagonized the hyperalgesia induced by prostaglandin E2, bradykinin, dopamine and by the hyperalgesic cytokines reported to be released by carrageenin (tumour necrosis factor alpha, interleukin-1 and interleukin-8).3. | 0.280824 | Post-treatment with S14080 dose-dependently antagonized the <span class="disease" id="7881729-3-60-72">hyperalgesia</span> induced by prostaglandin E2, <span class="gene" id="7881729-3-102-112">bradykinin</span>, dopamine and by the hyperalgesic cytokines reported to be released by carrageenin (tumour necrosis factor alpha, interleukin-1 and interleukin-8).3. | CTD_human |
1 | 1 | Biomarker | C0027819 | Neuroblastoma | disease | neuroblastoma | 57531 | HACE1 | HACE1 | CTD_human | 22,941,191 | Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. | 0.400275 | Common variation at 6q16 within <span class="gene" id="22941191-0-32-37">HACE1</span> and LIN28B influences susceptibility to <span class="disease" id="22941191-0-78-91">neuroblastoma</span>. | CTD_human;ORPHANET |
null | null | Negative | MESH:D007239 | null | null | influenza infection | 16153 | null | IL10 | null | 28,086,957 | RESULTS: Neonatal mice exposed to EPFRs had a significant increase in pulmonary Tregs and the immunosuppressive cytokine IL10 following influenza infection, which coincided with decreased protective T cell responses to influenza infection at 6 dpi. | null | null | null |
null | null | Negative | MESH:D004630 | null | null | EMS | 207 | null | AKT | null | 28,139,994 | [Delbridge TR, Bailey B, Chew JL Jr, Conn AKT, Krakeel JJ, Manz D, Miller DR, O'Malley PJ, Ryan SD, Spaite DW, Stewart RD, Suter RE, Wilson EM: EMS agenda for the future: Where we are where we want to be. | null | null | null |
2 | 0 | Biomarker | C0002170 | Alopecia | disease | alopecia | 7421 | VDR | VDR | CTD_human | 22,466,564 | HR mutations confer an alopecia phenotype similar to VDR mutations in mice and humans, but the underlying molecular mechanisms have not been elucidated. | 0.412883 | HR mutations confer an <span class="disease" id="22466564-5-23-31">alopecia</span> phenotype similar to <span class="gene" id="22466564-5-53-56">VDR</span> mutations in mice and humans, but the underlying molecular mechanisms have not been elucidated. | CTD_human;HPO |
1 | 14 | Biomarker | C0265233 | Cryptophthalmos syndrome | disease | FS | 80144 | FRAS1 | FRAS1 | CTD_human | 17,163,535 | Extensive studies on mRNA expression indicated that this mutation most likely leads to loss of function as most previously reported FRAS1 mutations associated with FS. | 0.48467 | Extensive studies on mRNA expression indicated that this mutation most likely leads to loss of function as most previously reported <span class="gene" id="17163535-5-132-137">FRAS1</span> mutations associated with <span class="disease" id="17163535-5-164-166">FS</span>. | CTD_human;ORPHANET |
null | null | Negative | MESH:D004370 | null | null | DR | 1785 | null | Dyn2 | null | 28,049,841 | Whereas the CME of constitutively internalized transferrin receptors is mainly dependent on the ubiquitously expressed Dyn2, TRAIL-induced DR endocytosis is selectively regulated by activation of Dyn1. | null | null | null |
1 | 0 | Biomarker | C0080178 | Spina Bifida | disease | spina bifida | 5110 | PCMT1 | PCMT1 | CTD_human | 16,256,389 | A known functional polymorphism (Ile120Val) of the human PCMT1 gene and risk of spina bifida. | 0.205689 | A known functional polymorphism (Ile120Val) of the human <span class="gene" id="16256389-0-57-62">PCMT1</span> gene and risk of <span class="disease" id="16256389-0-80-92">spina bifida</span>. | CTD_human |
null | null | Negative | MESH:D007249 | null | null | chronic inflammation | 18126 | null | iNOs | null | 28,159,232 | Moreover, compared with UYDP, FYDP effectively normalized cell proliferation and downregulated mRNA expression levels of pro-inflammatory cytokines, NF-kB, TLR-4, and iNOs in lipopolysaccharide-induced chronic inflammation cells. | null | null | null |
4 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | hepatocellular carcinoma | 7015 | TERT | mTERT | CTD_human | 16,651,430 | Here, in a hepatocellular carcinoma-prone model brought about through toxin-induced hepatocyte injury and regeneration, we sought to determine the cooperative interactions of germ line p53 mutation and telomere dysfunction [produced by telomerase reverse transcriptase (mTERT) gene knockout]. | 0.319171 | Here, in a <span class="disease" id="16651430-5-11-35">hepatocellular carcinoma</span>-prone model brought about through toxin-induced hepatocyte injury and regeneration, we sought to determine the cooperative interactions of germ line p53 mutation and telomere dysfunction [produced by telomerase reverse transcriptase (<span class="gene" id="16651430-5-270-275">mTERT</span>) gene knockout]. | CTD_human |
null | null | Negative | MESH:D009362 | null | null | Metastasis | 3065;3066 | null | HDAC1/2 | null | 28,179,136 | The complex is composed of six subunits: Metastasis Associated proteins MTA1/2/3 initially recruit histone chaperones RBBP4/7 followed by the histone deacetylases HDAC1/2 forming a core complex. | null | null | null |
null | null | Negative | MESH:D002289 | null | null | NSCLC | 18595 | null | PDGFRa | null | 28,021,863 | As expected, only rare NSCLC featuring high-level PDGFRa expression responded to inhibition of cancer cell PDGFRa. | null | null | null |
null | null | Negative | OMIM:135300 | null | null | HGF | 3815 | null | c-Kit | null | 28,142,428 | 50 mL of EDTA blood samples were collected at baseline (T0) and after 4wks (T1) together with disease restaging in all pts to analyze plasma levels of VEGF, sVEGFR-1,-2 and -3, c-Kit, HGF, TGF-b, IL-6, 8 and 12 by multiplex ELISA plates. | null | null | null |
null | null | Negative | MESH:C538191 | null | null | fumarate reductase | 6390 | null | succinate dehydrogenase | null | 28,088,649 | The fumarate and succinate interconversion is catalyzed by the enzymes succinate dehydrogenase (SDH) and fumarate reductase (FRD). | null | null | null |
null | null | Negative | MESH:D016582 | null | null | feline leukemia virus | 207 | null | AKT1 | null | 28,005,210 | We report a novel feline leukemia virus (FeLV), designated "FeLV-AKT", that has captured feline c-AKT1 in feline lymphoma. | null | null | null |
22 | 0 | Biomarker | C0023487 | Acute Promyelocytic Leukemia | disease | acute promyelocytic leukemia | 5914 | RARA | RAR? | CTD_human | 22,213,200 | Expression of PML-RAR? fusion proteins disrupted PML-NB structure and reduced HRR by up to 10-fold, raising the possibility that defective HRR and resulting genomic instability may figure in the pathogenesis, progression and relapse of acute promyelocytic leukemia. | 0.707329 | Expression of PML-<span class="gene" id="22213200-10-18-22">RARα</span> fusion proteins disrupted PML-NB structure and reduced HRR by up to 10-fold, raising the possibility that defective HRR and resulting genomic instability may figure in the pathogenesis, progression and relapse of <span class="disease" id="22213200-10-236-264">acute promyelocytic leukemia</span>. | CTD_human;HPO;ORPHANET |
null | null | Negative | MESH:D053158 | null | null | nocturia | 375056 | null | TANGO | null | 28,075,514 | Using pre-determined domains, a nocturia screening metric, entitled TANGO, was generated. | null | null | null |
null | null | Negative | MESH:D014897 | null | null | SMA | 25123 | null | SM22a | null | 28,066,139 | The promoter activity of SMA, SM22a, and KLF8 was significantly elevated in the contractile phenotype of VSMCs. | null | null | null |
null | null | Negative | MESH:C563177 | null | null | GSH | 4780 | null | nuclear factor erythroid 2-related factor 2 | null | 28,116,039 | DMF activates the transcription factor nuclear factor erythroid 2-related factor 2 (NRF2) leading to increased synthesis of the major cellular antioxidant glutathione (GSH) and prominent neuroprotection in vitro. | null | null | null |
null | null | Negative | MESH:D002292 | null | null | planar cell polarity | 107934 | null | Celsr3 | null | 28,057,866 | Using synaptosome fractionation, immunostaining, and coimmunoprecipitation, we found that Celsr3 and Vangl2, core components of the planar cell polarity (PCP) pathway, are localized at developing glutamatergic synapses and interact with key synaptic proteins. | null | null | null |
2 | 0 | Therapeutic | C0424295 | Hyperactive behavior | phenotype | hyperactivity | 885 | CCK | CCK-8 | CTD_human | 3,561,887 | Local treatment with the opioid antagonist naloxone antagonized this inhibitory action of CCK-8 (ED50, 18 ng), but did not change the blocking effect of haloperidol on the apomorphine-induced hyperactivity. | 0.200275 | Local treatment with the opioid antagonist naloxone antagonized this inhibitory action of <span class="gene" id="3561887-2-90-95">CCK-8</span> (ED50, 18 ng), but did not change the blocking effect of haloperidol on the apomorphine-induced <span class="disease" id="3561887-2-192-205">hyperactivity</span>. | CTD_human |
1 | 0 | Biomarker | C0026769 | Multiple Sclerosis | disease | MS | 7297 | TYK2 | TYK2 | CTD_human | 19,525,955 | We also replicated several known MS associations (HLA-DR15, P = 7.0 x 10(-184); CD58, P = 9.6 x 10(-8); EVI5-RPL5, P = 2.5 x 10(-6); IL2RA, P = 7.4 x 10(-6); CLEC16A, P = 1.1 x 10(-4); IL7R, P = 1.3 x 10(-3); TYK2, P = 3.5 x 10(-3)) and observed a statistical interaction between SNPs in EVI5-RPL5 and HLA-DR15 (P = 0.001). | 0.214508 | We also replicated several known <span class="disease" id="19525955-5-33-35">MS</span> associations (HLA-DR15, P = 7.0 x 10(-184); CD58, P = 9.6 x 10(-8); EVI5-RPL5, P = 2.5 x 10(-6); IL2RA, P = 7.4 x 10(-6); CLEC16A, P = 1.1 x 10(-4); IL7R, P = 1.3 x 10(-3); <span class="gene" id="19525955-5-209-213">TYK2</span>, P = 3.5 x 10(-3)) and observed a statistical interaction between SNPs in EVI5-RPL5 and HLA-DR15 (P = 0.001). | CTD_human |
1 | 0 | Biomarker | C0009952 | Febrile Convulsions | disease | febrile seizures | 3613 | IMPA2 | IMPA2 | CTD_human | 15,557,493 | Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18. | 0.203231 | Linkage and association of <span class="disease" id="15557493-0-27-43">febrile seizures</span> to the <span class="gene" id="15557493-0-51-56">IMPA2</span> gene on human chromosome 18. | CTD_human |
24 | 0 | Biomarker | C0002736 | Amyotrophic Lateral Sclerosis | disease | amyotrophic lateral sclerosis | 6647 | SOD1 | SOD1 | CTD_human | 19,635,794 | We identified a shared property of these familial amyotrophic lateral sclerosis-related SOD1 variants, namely structural and dynamic change affecting the electrostatic loop (loop VII) of SOD1. | 0.798512 | We identified a shared property of these familial <span class="disease" id="19635794-3-50-79">amyotrophic lateral sclerosis</span>-related <span class="gene" id="19635794-3-88-92">SOD1</span> variants, namely structural and dynamic change affecting the electrostatic loop (loop VII) of <span class="gene" id="19635794-3-187-191">SOD1</span>. | CTD_human;HPO;ORPHANET |
null | null | Negative | MESH:D015431 | null | null | weight loss | 246779 | null | IL-27 | null | 28,129,374 | Infected IL-27-deficient mice experienced increased weight loss, more severe lung lesions, and decreased survival compared to controls. | null | null | null |
3 | 0 | Biomarker | C1832200 | Peroxisome biogenesis disorders | group | PBD | 5192 | PEX10 | PEX10 | CTD_human | 10,862,081 | Mutations in PEX10 have been identified in patients from complementation group 7 (CG7) of the PBDs and we report here an analysis of the genotypes and phenotypes of PEX10-deficient patients. | 0.201374 | Mutations in <span class="gene" id="10862081-3-13-18">PEX10</span> have been identified in patients from complementation group 7 (CG7) of the <span class="disease" id="10862081-3-94-97">PBD</span>s and we report here an analysis of the genotypes and phenotypes of <span class="gene" id="10862081-3-165-170">PEX10</span>-deficient patients. | CTD_human |
1 | 0 | Biomarker | C0036341 | Schizophrenia | disease | Schizophrenia | 6529 | SLC6A1 | GAT-1 | CTD_human | 18,923,069 | Schizophrenia subjects showed significant decreases in mRNA levels of GAD(67), GAD(65), GAT-1, mGluR2, and neuronal nitric oxide synthase. | 0.281099 | <span class="disease" id="18923069-7-0-13">Schizophrenia</span> subjects showed significant decreases in mRNA levels of GAD(67), GAD(65), <span class="gene" id="18923069-7-88-93">GAT-1</span>, mGluR2, and neuronal nitric oxide synthase. | CTD_human |
1 | 0 | Biomarker | C0009319 | Colitis | disease | colitis | 5743 | PTGS2 | COX-2 | CTD_human | 11,820,457 | TNBS-induced colitis was associated with enhanced COX-2 expression in the gut and increased circulating concentrations of PGE2 metabolite (PGEM). | 0.282473 | TNBS-induced <span class="disease" id="11820457-3-13-20">colitis</span> was associated with enhanced <span class="gene" id="11820457-3-50-55">COX-2</span> expression in the gut and increased circulating concentrations of PGE2 metabolite (PGEM). | CTD_human |
null | null | Negative | MESH:C535509 | null | null | extracellular domain | 2064 | null | HER2 | null | 28,023,445 | HER2 extracellular domain (ECD) may be shed to the serum. | null | null | null |
null | null | Negative | MESH:D015875 | null | null | greatest linear diameter | 4948 | null | PED | null | 28,084,038 | Secondary outcomes were change in PED height and PED greatest linear diameter (GLD). | null | null | null |
null | null | Negative | MESH:D006623 | null | null | VHL | 1499 | null | b-catenin | null | 28,138,036 | Moreover, HJC0152 inhibited nuclear translocation of phosphorylated STAT3 at Tyr705 and decreased VHL/b-catenin signaling activity via regulation of miR-21. | null | null | null |
1 | 0 | Biomarker | C2931822 | Nasopharyngeal carcinoma | disease | nasopharyngeal carcinoma | 1182 | CLCN3 | ClC-3 | CTD_human | 22,108,225 | ClC-3 protein may be considered as a potential tumor marker and therapeutic target for human nasopharyngeal carcinoma. | 0.202198 | <span class="gene" id="22108225-8-0-5">ClC-3</span> protein may be considered as a potential tumor marker and therapeutic target for human <span class="disease" id="22108225-8-93-117">nasopharyngeal carcinoma</span>. | CTD_human |
1 | 0 | Biomarker | C0034067 | Pulmonary Emphysema | disease | emphysema | 5265 | SERPINA1 | alpha 1-antitrypsin | CTD_human | 3,485,249 | Alpha 1-antitrypsin deficiency and emphysema caused by homozygous inheritance of non-expressing alpha 1-antitrypsin genes. | 0.437832 | Alpha 1-antitrypsin deficiency and <span class="disease" id="3485249-0-35-44">emphysema</span> caused by homozygous inheritance of non-expressing <span class="gene" id="3485249-0-96-115">alpha 1-antitrypsin</span> genes. | CTD_human;HPO |
null | null | Negative | MESH:D012164 | null | null | retinal pigmented epithelium | 192119 | null | DICER1 | null | 28,104,803 | Development of GA has been linked to loss of the microRNA (miRNA)-processing enzyme DICER1 in the mature retinal pigmented epithelium (RPE). | null | null | null |
null | null | Negative | MESH:D045888 | null | null | trigeminal ganglion | 26416 | null | p38 | null | 28,155,010 | However, whether activation of p38 and JNK MAPK signaling pathway in the trigeminal ganglion (TG) are involved in CXCL13 and its receptor CXCR5-mediated orofacial pain has not yet been clarified. | null | null | null |
null | null | Negative | MESH:D009336 | null | null | necrosis | 21990 | null | TPH1 | null | 28,109,119 | An abnormal thick band of fibrosis and necrosis under the giant cell layer in SERT-KO placentas appeared only moderately in TPH1-KO and minimally present in WT placentas. | null | null | null |
1 | 0 | Biomarker | C0042510 | Ventricular Fibrillation | disease | Ventricular fibrillation | 3764 | KCNJ8 | KCNJ8 | CTD_human | 19,120,683 | Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/KATP channel. | 0.200549 | <span class="disease" id="19120683-0-0-24">Ventricular fibrillation</span> with prominent early repolarization associated with a rare variant of <span class="gene" id="19120683-0-95-100">KCNJ8</span>/KATP channel. | CTD_human |
96 | 174 | Biomarker | C0019202 | Hepatolenticular Degeneration | disease | Wilson disease | 540 | ATP7B | ATP7B | CTD_human | 18,779,302 | Mutations in ATP7B lead to Wilson disease. | 0.885769 | Mutations in <span class="gene" id="18779302-12-13-18">ATP7B</span> lead to <span class="disease" id="18779302-12-27-41">Wilson disease</span>. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C0036572 | Seizures | phenotype | seizures | 2290 | FOXG1 | forkhead box G1B | CTD_human | 18,627,055 | FOXG1B (forkhead box G1B) is a very intriguing candidate gene since it is known to promote neuronal progenitor proliferation and to suppress premature neurogenesis and its disruption is reported in a patient with postnatal microcephaly, corpus callosum agenesis, seizures, and severe mental retardation. | 0.400824 | <span class="gene" id="18627055-4-0-6">FOXG1B</span> (<span class="gene" id="18627055-4-8-24">forkhead box G1B</span>) is a very intriguing candidate gene since it is known to promote neuronal progenitor proliferation and to suppress premature neurogenesis and its disruption is reported in a patient with postnatal microcephaly, corpus callosum agenesis, <span class="disease" id="18627055-4-263-271">seizures</span>, and severe mental retardation. | CTD_human;HPO |
null | null | Negative | MESH:D007249 | null | null | inflammation | 23886 | null | GDF-15 | null | 28,145,442 | Next, we exposed GDF-15 KO and control mice to air or CS and evaluated pulmonary inflammation. | null | null | null |
null | null | Negative | MESH:D011475 | null | null | OS | 406992 | null | miR210 | null | 28,020,092 | RESULTS: Low miR210 (under median) miR21, and miR15a, (under first quartile) expression significantly predicted a better survival when adjusted for stage and number of administered cycles, the two clinical variables influencing OS in multivariate analysis. | null | null | null |
1 | 0 | Biomarker | C0032285 | Pneumonia | disease | lung inflammation | 4638 | MYLK | MLCK | CTD_human | 15,863,634 | LPS-induced lung inflammation is linked to increased epithelial permeability: role of MLCK. | 0.202407 | LPS-induced <span class="disease" id="15863634-0-12-29">lung inflammation</span> is linked to increased epithelial permeability: role of <span class="gene" id="15863634-0-86-90">MLCK</span>. | CTD_human |
null | null | Negative | MESH:D008080 | null | null | dedifferentiated liposarcoma | 3481 | null | insulin-like growth factor 2 | null | 28,012,446 | In this report, we describe a case of unexpected hypoglycemia caused by a dedifferentiated liposarcoma producing insulin-like growth factor 2. | null | null | null |
6 | 2 | Biomarker | C2239176 | Liver carcinoma | disease | hepatocellular carcinoma | 7157 | TP53 | TP53 | CTD_human | 22,675,488 | Aflatoxin-induced TP53 R249S mutation in hepatocellular carcinoma in Thailand: association with tumors developing in the absence of liver cirrhosis. | 0.672301 | Aflatoxin-induced <span class="gene" id="22675488-0-18-22">TP53</span> R249S mutation in <span class="disease" id="22675488-0-41-65">hepatocellular carcinoma</span> in Thailand: association with tumors developing in the absence of liver cirrhosis. | CTD_human;HPO |
null | null | Negative | MESH:D007674 | null | null | renal fibrosis | 100525120 | null | HGF | null | 28,070,037 | Conclusion: BM-MSCs from WZS mini-pig can inhibit or delay the progress of CKD-induced renal fibrosis through autocrine HGF in vitro. | null | null | null |
20 | 0 | Biomarker | C0023487 | Acute Promyelocytic Leukemia | disease | APL | 5371 | PML | PML | CTD_human | 16,935,935 | These findings reveal a novel ATRA signaling on APL cell differentiation, in which ATRA coordinates G1 arrest and transition into differentiation by inducing MAT1 degradation and PML/RARalpha hypophosphorylation through disrupting PML/RARalpha binding and phosphorylation by CAK. | 0.507329 | These findings reveal a novel ATRA signaling on <span class="disease" id="16935935-9-48-51">APL</span> cell differentiation, in which ATRA coordinates G1 arrest and transition into differentiation by inducing MAT1 degradation and <span class="gene" id="16935935-9-179-182">PML</span>/RARalpha hypophosphorylation through disrupting <span class="gene" id="16935935-9-231-234">PML</span>/RARalpha binding and phosphorylation by CAK. | CTD_human;ORPHANET |
null | null | Negative | MESH:D016511 | null | null | Severe combined immunodeficiency | 19090 | null | SCID | null | 28,068,510 | Severe combined immunodeficiency (SCID) is 1 of the most common indications for pediatric hematopoietic cell transplantation (HCT) in patients with primary immunodeficiency. | null | null | null |
null | null | Negative | MESH:C566823 | null | null | AFX | 4311 | null | CD10 | null | 28,079,637 | OBJECTIVE: The authors aimed to identify the clinical, histologic, and immunohistochemical expression of LN2, ezrin, and CD10 in AFX and UPS tumors. | null | null | null |
null | null | Negative | MESH:D009136 | null | null | muscular dystrophy | 6696 | null | osteopontin | null | 28,011,285 | This review will focus on identification and possible mechanisms of recently identified modifiers for muscular dystrophy, including osteopontin, latent TGFb binding protein 4 (LTBP4) and Jagged1. | null | null | null |
null | null | Negative | MESH:D063646 | null | null | tumorigenesis | 100039489 | null | HMGN4 | null | 28,186,538 | Here, we report that altered expression of the nucleosome-binding protein HMGN4 potentiates thyroid tumorigenesis. | null | null | null |
null | null | Negative | MESH:D012509 | null | null | rat sarcoma | 292701 | null | carcinoembryonic antigen | null | 28,008,623 | BACKGROUND: While the significance of carcinoembryonic antigen (CEA), lactate dehydrogenase (LDH), and Kirsten rat sarcoma (KRAS) status as individual prognostic factors for patients with metastatic colorectal cancer has been addressed, the relationship and interdependence between these prognostic factors on survival is limited. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | cancer | 15184 | null | histone deacetylase 5 | null | 28,029,254 | UNASSIGNED: Guanidine and morpholine functionalized aliphatic polycarbonate polymers are able to deliver efficiently histone deacetylase 5 (HDAC5) siRNA into the cytoplasm of cancer cells in vitro leading to a decrease of cell proliferation were previously developed. | null | null | null |
5 | 0 | Therapeutic | C0020538 | Hypertensive disease | group | hypertension | 4846 | NOS3 | endothelial nitric-oxide synthase | CTD_human | 19,008,412 | Increased endothelial nitric-oxide synthase expression reduces hypertension and hyperinsulinemia in fructose-treated rats. | 0.353426 | Increased <span class="gene" id="19008412-0-10-43">endothelial nitric-oxide synthase</span> expression reduces <span class="disease" id="19008412-0-63-75">hypertension</span> and hyperinsulinemia in fructose-treated rats. | CTD_human |
6 | 0 | Therapeutic | C0004153 | Atherosclerosis | disease | atherosclerosis | 5444 | PON1 | PON1 | CTD_human | 26,241,956 | The results of the present study suggested that the PON1 R and M alleles may play a role in the pathogenesis of cardiac ischemia in our North African population and that a decrease in PON1 activity may be a valuable marker for monitoring the development of the atherosclerosis process and the associated cardiovascular complications. | 0.286433 | The results of the present study suggested that the <span class="gene" id="26241956-10-52-56">PON1</span> R and M alleles may play a role in the pathogenesis of cardiac ischemia in our North African population and that a decrease in <span class="gene" id="26241956-10-184-188">PON1</span> activity may be a valuable marker for monitoring the development of the <span class="disease" id="26241956-10-261-276">atherosclerosis</span> process and the associated cardiovascular complications. | CTD_human |
1 | 0 | Biomarker | C0393593 | Dystonia Disorders | group | dystonia | 8575 | PRKRA | PRKRA | CTD_human | 18,243,799 | DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. | 0.204605 | <span class="gene" id="18243799-0-0-5">DYT16</span>, a novel young-onset <span class="disease" id="18243799-0-27-35">dystonia</span>-parkinsonism disorder: identification of a segregating mutation in the stress-response protein <span class="gene" id="18243799-0-131-136">PRKRA</span>. | CTD_human |
null | null | Negative | MESH:D011471 | null | null | prostate cancer | 16992 | null | LTa | null | 28,142,972 | However, the role of LTa in human as distinct from murine prostate cancer remains unclear. | null | null | null |
2 | 0 | Biomarker | C0002871 | Anemia | disease | Anemia | 5741 | PTH | PTH 1 | CTD_human | 19,578,808 | Anemia was more pronounced with PTH 1-84 compared to PTH 1-34 and was reversed with each regimen discontinuation. | 0.2 | <span class="disease" id="19578808-4-0-6">Anemia</span> was more pronounced with <span class="gene" id="19578808-4-32-37">PTH 1</span>-84 compared to <span class="gene" id="19578808-4-53-58">PTH 1</span>-34 and was reversed with each regimen discontinuation. | CTD_human |
1 | 0 | Biomarker | C2931817 | Chromosome 2q37 deletion syndrome | disease | brachydactyly mental retardation syndrome | 9759 | HDAC4 | HDAC4 | CTD_human | 20,691,407 | Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. | 0.401923 | Haploinsufficiency of <span class="gene" id="20691407-0-22-27">HDAC4</span> causes <span class="disease" id="20691407-0-35-76">brachydactyly mental retardation syndrome</span>, with brachydactyly type E, developmental delays, and behavioral problems. | CTD_human;ORPHANET |
null | null | Negative | MESH:D009410 | null | null | neuronal hyperexcitability | 17257 | null | Mecp2 | null | 28,108,647 | In neurons of the mesencephalic trigeminal nucleus (Me5), both the neuronal hyperexcitability and the changes in intrinsic membrane properties were alleviated with the THIP treatment in Mecp2-null mice. | null | null | null |
null | null | Negative | MESH:C538054 | null | null | Aerobics Center Longitudinal Study | 1392 | null | CRF | null | 28,009,533 | Cardiovascular disease risk was determined using published age- and sex-adjusted values for low, moderate, and high CRF from the Aerobics Center Longitudinal Study (ACLS). | null | null | null |
2 | 0 | Therapeutic | C0023473 | Myeloid Leukemia, Chronic | disease | chronic myeloid leukemia | 240 | ALOX5 | Alox5 | CTD_human | 19,823,023 | The Alox5 gene is a novel therapeutic target in cancer stem cells of chronic myeloid leukemia. | 0.201374 | The <span class="gene" id="19823023-0-4-9">Alox5</span> gene is a novel therapeutic target in cancer stem cells of <span class="disease" id="19823023-0-69-93">chronic myeloid leukemia</span>. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 503637 | null | DUXAP8 | null | 28,131,418 | We identified a transcribed pseudogene named DUXAP8 that is upregulated in tumor tissues. | null | null | null |
2 | 0 | Biomarker | C0014544 | Epilepsy | disease | epilepsy | 7248 | TSC1 | Tsc1 | CTD_human | 21,062,901 | Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex. | 0.403846 | Tsc2 gene inactivation causes a more severe <span class="disease" id="21062901-0-44-52">epilepsy</span> phenotype than <span class="gene" id="21062901-0-68-72">Tsc1</span> inactivation in a mouse model of tuberous sclerosis complex. | CTD_human;HPO |
null | null | Negative | MESH:D007680 | null | null | renal carcinoma | 216742 | null | FNIP1 | null | 28,039,480 | Recent studies indicated that FNIP1/FNIP2 double knockout mice display enlarged polycystic kidneys and renal carcinoma, which phenocopies FLCN knockout mice, suggesting that these two proteins function together to suppress renal cancer. | null | null | null |
null | null | Negative | MESH:D014947 | null | null | trauma | 6947 | null | TC1 | null | 28,130,901 | The participants were youth between 15 and 25 years of age, at 2 major Level 1 trauma centers (TCs; TC1, TC2) in the Southeastern United States. | null | null | null |
1 | 0 | Biomarker | C0022104 | Irritable Bowel Syndrome | disease | irritable bowel syndrome | 7177 | TPSAB1 | TPSAB1 | CTD_human | 27,749,843 | Thus, our findings link duplications in TPSAB1 with irritable bowel syndrome, cutaneous complaints, connective tissue abnormalities, and dysautonomia. | 0.2 | Thus, our findings link duplications in <span class="gene" id="27749843-6-40-46">TPSAB1</span> with <span class="disease" id="27749843-6-52-76">irritable bowel syndrome</span>, cutaneous complaints, connective tissue abnormalities, and dysautonomia. | CTD_human |
null | null | Negative | MESH:D009410 | null | null | neuronal dysfunction | 56718 | null | mTOR | null | 28,214,828 | This has pharmacological implications to target specific mTOR and its downstream signal pathway for neuronal dysfunction and vulnerability related to ICH. | null | null | null |
null | null | Negative | MESH:D020151 | null | null | PKC | 17475 | null | Lost-multi-PDZ domain protein 1 | null | 28,143,902 | PDZRN3 regulated Wnt signaling and associated with a complex containing PAR3, PKC , and the multi-PDZ domain protein MUPP1 (Discs Lost-multi-PDZ domain protein 1) and targeted MUPP1 for proteasomal degradation in transfected cells. | null | null | null |
6 | 0 | Biomarker | C0019243 | Angioedemas, Hereditary | disease | HAE | 710 | SERPING1 | C1-INH | CTD_human | 23,406,939 | C1-INH replacement and specific inhibition of plasma kallikrein with ecallantide have been successful in the treatment of hereditary angioedema (HAE), a more common related disorder. | 0.247499 | <span class="gene" id="23406939-2-0-6">C1-INH</span> replacement and specific inhibition of plasma kallikrein with ecallantide have been successful in the treatment of <span class="disease" id="23406939-2-122-143">hereditary angioedema</span> (<span class="disease" id="23406939-2-145-148">HAE</span>), a more common related disorder. | CTD_human |
null | null | Negative | MESH:D065626 | null | null | NAFLD | 59295 | null | nesfatin-1 | null | 28,211,103 | Moreover, the present study provides the first evidence of an increased plasma nesfatin-1 concentration in NAFLD rats, which was significantly correlated with plasma lipid concentrations and behavioural performance. | null | null | null |
null | null | Negative | MESH:D055501 | null | null | macrophage activation syndrome | 81897 | null | toll-like receptor 9 | null | 28,034,913 | In this study, we used the toll-like receptor 9 (TLR9)-mediated model of a hemophagocytic syndrome known as macrophage activation syndrome (MAS) to dissect the predominant immune cell populations infiltrating the liver during inflammation. | null | null | null |
1 | 0 | Biomarker | C0023343 | Leprosy | disease | leprosy | 4049 | LTA | lymphotoxin-alpha | CTD_human | 17,353,895 | Stepwise replication identifies a low-producing lymphotoxin-alpha allele as a major risk factor for early-onset leprosy. | 0.202682 | Stepwise replication identifies a low-producing <span class="gene" id="17353895-0-48-65">lymphotoxin-alpha</span> allele as a major risk factor for early-onset <span class="disease" id="17353895-0-112-119">leprosy</span>. | CTD_human |
1 | 0 | Biomarker | C0034069 | Pulmonary Fibrosis | disease | PF | 1950 | EGF | EGF | CTD_human | 17,266,442 | TGF-beta, EGF, and IGF-1 levels were also significantly increased in patients with PF compared with controls. | 0.2 | TGF-beta, <span class="gene" id="17266442-6-10-13">EGF</span>, and IGF-1 levels were also significantly increased in patients with <span class="disease" id="17266442-6-83-85">PF</span> compared with controls. | CTD_human |
1 | 1 | Biomarker | C0752166 | Bardet-Biedl Syndrome | disease | BBS | 80184 | CEP290 | NPHP6 | CTD_human | 18,327,255 | Here we show that mutations in MKS1, MKS3 and CEP290 (also known as NPHP6) either can cause Bardet-Biedl syndrome (BBS) or may have a potential epistatic effect on mutations in known BBS-associated loci. | 0.404931 | Here we show that mutations in MKS1, MKS3 and <span class="gene" id="18327255-3-46-52">CEP290</span> (also known as <span class="gene" id="18327255-3-68-73">NPHP6</span>) either can cause <span class="disease" id="18327255-3-92-113">Bardet-Biedl syndrome</span> (<span class="disease" id="18327255-3-115-118">BBS</span>) or may have a potential epistatic effect on mutations in known <span class="disease" id="18327255-3-183-186">BBS</span>-associated loci. | CTD_human;ORPHANET |
null | null | Negative | MESH:D009765 | null | null | obesity | 15111 | null | Th2 | null | 28,193,830 | We conclude that IL-6 acts as a Th2 cytokine in obesity by stimulating M2 polarization and local ATM proliferation, presumably due to upregulation of the IL-4 receptor a. | null | null | null |
null | null | Negative | MESH:D003920 | null | null | diabetic | 12367 | null | caspase-3 | null | 28,098,182 | Administration of EGCG to diabetic mice showed significant elevation in serum cystatin C and neutrophil gelatinase-associated lipocalin, marked increase in oxidative stress and inflammatory states in addition to marked over expression of active caspase-3. | null | null | null |
2 | 0 | Therapeutic | C0020456 | Hyperglycemia | disease | hyperglycemia | 2641 | GCG | glucagon | CTD_human | 3,019,152 | These results suggest that in uremic humans propranolol independently reduces the hepatic response to glucagon and the insulin secretory response to hyperglycemia and/or hyperglucagonemia. | 0.208517 | These results suggest that in uremic humans propranolol independently reduces the hepatic response to <span class="gene" id="3019152-11-102-110">glucagon</span> and the insulin secretory response to <span class="disease" id="3019152-11-149-162">hyperglycemia</span> and/or hyperglucagonemia. | CTD_human |
1 | 0 | Biomarker | C0028754 | Obesity | disease | obese | 834 | CASP1 | CASPASE-1 | CTD_human | 22,325,453 | CASPASE-1 mRNA and the proportion of T(h)1 transcripts (TBX21/CD3?) were significantly higher in AT from obese compared with lean subjects. | 0.2 | <span class="gene" id="22325453-6-0-9">CASPASE-1</span> mRNA and the proportion of T(h)1 transcripts (TBX21/CD3?) were significantly higher in AT from <span class="disease" id="22325453-6-105-110">obese</span> compared with lean subjects. | CTD_human |
1 | 0 | Biomarker | C0017601 | Glaucoma | disease | glaucoma | 23424 | TDRD7 | TDRD7 | CTD_human | 21,436,445 | Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. | 0.200275 | Mutations in the RNA granule component <span class="gene" id="21436445-0-39-44">TDRD7</span> cause cataract and <span class="disease" id="21436445-0-64-72">glaucoma</span>. | CTD_human |
2 | 0 | Biomarker | C0002871 | Anemia | disease | anemia | 4524 | MTHFR | MTHFR | CTD_human | 19,391,036 | Subjects with MTHFR polymorphism for A1298C (AC, CC) had significantly higher MTX levels at 48 h (p = 0.02), and had more grade III/IV anemia (p = 0.02), thrombocytopenia (p = 0.0001), elevated AST levels (p = 0.04) and frequent febrile neutropenic episodes (p = 0.004). | 0.205638 | Subjects with <span class="gene" id="19391036-6-14-19">MTHFR</span> polymorphism for A1298C (AC, CC) had significantly higher MTX levels at 48 h (p = 0.02), and had more grade III/IV <span class="disease" id="19391036-6-135-141">anemia</span> (p = 0.02), thrombocytopenia (p = 0.0001), elevated AST levels (p = 0.04) and frequent febrile neutropenic episodes (p = 0.004). | CTD_human |
3 | 0 | Therapeutic | C0030193 | Pain | phenotype | pain | 5443 | POMC | beta-endorphin | CTD_human | 20,084,599 | The endogenous opioid beta-endorphin is a known indicator of stress and pain. | 0.202747 | The endogenous opioid <span class="gene" id="20084599-1-22-36">beta-endorphin</span> is a known indicator of stress and <span class="disease" id="20084599-1-72-76">pain</span>. | CTD_human |
null | null | Negative | MESH:D012514 | null | null | Kaposi's sarcoma | 4961447 | null | vBcl-2 | null | 28,053,098 | KS-Bcl-2 is a Kaposi's sarcoma-associated herpesvirus (KSHV)-encoded viral Bcl-2 (vBcl-2) homolog which has apoptosis- and autophagy-inhibiting activity when expressed in transfected cells. | null | null | null |
null | null | Negative | MESH:C563733 | null | null | Carotid Intima Medial Thickness | 404677 | null | CIMT | null | 28,208,908 | INTRODUCTION: Increased Carotid Intima Medial Thickness (CIMT) is associated with cardiovascular risk factors and vascular events like Coronary Artery Disease (CAD) and stroke. | null | null | null |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.