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12 | 8 | Biomarker | C3887949 | Apparent mineralocorticoid excess | disease | apparent mineralocorticoid excess | 3291 | HSD11B2 | HSD11B2 | CTD_human | 7,608,290 | A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess. | 0.489615 | A mutation in the <span class="gene" id="7608290-0-18-25">HSD11B2</span> gene in a family with <span class="disease" id="7608290-0-48-81">apparent mineralocorticoid excess</span>. | CTD_human;UNIPROT |
null | null | Negative | MESH:D013224 | null | null | asthmatic | 84876 | null | Orai1 | null | 28,165,446 | Here we show that BPIFA1 levels are reduced in sputum samples from asthmatic patients and that BPIFA1 is secreted basolaterally from healthy, but not asthmatic human bronchial epithelial cultures (HBECs), where it suppresses ASM contractility by binding to and inhibiting the Ca(2+) influx channel Orai1. | null | null | null |
2 | 0 | Biomarker | C0014084 | Enchondromatosis | disease | Ollier disease | 3418 | IDH2 | IDH2 | CTD_human | 22,057,234 | Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. | 0.601374 | Somatic mosaic IDH1 and <span class="gene" id="22057234-0-24-28">IDH2</span> mutations are associated with enchondroma and spindle cell hemangioma in <span class="disease" id="22057234-0-102-116">Ollier disease</span> and Maffucci syndrome. | CTD_human;HPO;ORPHANET |
null | null | Negative | MESH:D018205 | null | null | AT | 3630 | null | insulin | null | 28,179,648 | Here, we investigated the effects of diet-induced weight loss (WL) on abdominal subcutaneous AT oxygen tension (pO<sub>2</sub>), AT blood flow (ATBF), AT capillary density, AT morphology and transcriptome, systemic inflammatory markers and insulin sensitivity in humans. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 29260 | null | toll-like receptor-4 | null | 28,152,042 | Western blot analysis was performed to determine protein expression of high-mobility group box 1 (HMGB1), toll-like receptor-4 (TLR-4), phosphorylated nuclear factor-kappa B (p-NF-kB), interleukin-1beta (IL-1b), tumor necrosis factor-alpha (TNF-a), phosphorylated inducible and endothelial nitric oxide synthase (p-iNOS, p-eNOS), Bcl-2, Bax, Cytochrome C, and caspase-3 in the brain. | null | null | null |
4 | 8 | Biomarker | C0034960 | Refsum Disease | disease | RD | 5264 | PHYH | PHYH | CTD_human | 12,522,768 | Linkage analysis of a few patients diagnosed with RD, but without mutations in PHYH, suggested a second locus on chromosome 6q22-24. | 0.689861 | Linkage analysis of a few patients diagnosed with <span class="disease" id="12522768-3-50-52">RD</span>, but without mutations in <span class="gene" id="12522768-3-79-83">PHYH</span>, suggested a second locus on chromosome 6q22-24. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D020159 | null | null | Thymidylate synthase | 7124 | null | TNFa | null | 28,013,739 | Thymidylate synthase (TS), thymidine phosphorylase (TP), dihydropyrimidine dehydrogenase (DPD) and TNFa mRNA/GAPDH mRNA relative levels from tumor and adjacent tissue has been measured by means of Real Time PCR. | null | null | null |
null | null | Negative | MESH:D002311 | null | null | dilated cardiomyopathy | 16905 | null | lamin A/C | null | 28,011,205 | Mice with dilated cardiomyopathy caused by a lamin A/C gene mutation have abnormally increased cardiac ERK1/2 activity. | null | null | null |
3 | 0 | Biomarker | C0279626 | Squamous cell carcinoma of esophagus | disease | ESCC | 5743 | PTGS2 | COX-2 | CTD_human | 18,197,933 | COX-2 mRNA expression in esophageal squamous cell carcinoma (ESCC) and effect by NSAID. | 0.208517 | <span class="gene" id="18197933-0-0-5">COX-2</span> mRNA expression in <span class="disease" id="18197933-0-25-59">esophageal squamous cell carcinoma</span> (<span class="disease" id="18197933-0-61-65">ESCC</span>) and effect by NSAID. | CTD_human |
null | null | Negative | MESH:C567844 | null | null | juvenile-onset dystonia parkinsonism | 8398 | null | PARK14-linked parkinsonism | null | 28,213,071 | Phospholipase A2, group VI (PLA2G6) is the causative gene for PARK14-linked parkinsonism (PARK14), a familial form of juvenile-onset dystonia parkinsonism. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | inha/Tag adrenal tumors | 14715 | null | Gnrhr | null | 28,131,743 | Besides earlier reported Gata4 and Lhcgr, we found up-regulated Esr1, Prlr-rs1, and down-regulated Grb10, Mmp24, Sgcd, Rerg, Gnas, Nfatc2, Gnrhr, Igf2 in inha/Tag adrenal tumors. | null | null | null |
1 | 0 | Biomarker | C0038356 | Stomach Neoplasms | group | stomach tumors | 196 | AHR | aryl hydrocarbon receptor | CTD_human | 12,107,286 | A constitutively active dioxin/aryl hydrocarbon receptor induces stomach tumors. | 0.202733 | A constitutively active dioxin/<span class="gene" id="12107286-0-31-56">aryl hydrocarbon receptor</span> induces <span class="disease" id="12107286-0-65-79">stomach tumors</span>. | CTD_human |
null | null | Negative | MESH:C536528 | null | null | LPS | 19013 | null | PPARa | null | 28,135,761 | Primary macrophages were isolated from C57BL6 (WT) and PPARa knockout (KO) mice, cultured under standard conditions and exposed to LPS (2.5 g/mL) and PM 600 M conjugated with albumin for 24 hours. | null | null | null |
null | null | Negative | MESH:D008175 | null | null | lung tumors | 67245 | null | Pellino-1 | null | 28,009,353 | Pellino-1 expression level was significantly correlated with Snail and Slug expression in human lung adenocarcinoma tissues, and lung tumors from Pellino-1-Tg mice showed Snail and Slug overexpression. | null | null | null |
1 | 0 | Biomarker | C0024115 | Lung diseases | group | lung disease | 5265 | SERPINA1 | AAT | CTD_human | 17,659,342 | This new proposed phenotype for AAT transcends classic pattern of strictly liver and lung disease, and should be considered for proper evaluation and management of patients presenting with classic AAT-related disorders, affective disorders, persons with ICE, white matter disease or multisystem disorders of memory. | 0.223243 | This new proposed phenotype for <span class="gene" id="17659342-21-32-35">AAT</span> transcends classic pattern of strictly liver and <span class="disease" id="17659342-21-85-97">lung disease</span>, and should be considered for proper evaluation and management of patients presenting with classic <span class="gene" id="17659342-21-197-200">AAT</span>-related disorders, affective disorders, persons with ICE, white matter disease or multisystem disorders of memory. | CTD_human |
1 | 0 | Therapeutic | C0040028 | Thrombocythemia, Essential | disease | essential thrombocytosis | 3440 | IFNA2 | interferon alpha-2a | CTD_human | 12,924,084 | Alternatives to hydroxyurea are imatinib for the treatment of CML and interferon alpha-2a or anagrelide for essential thrombocytosis. | 0.201648 | Alternatives to hydroxyurea are imatinib for the treatment of CML and <span class="gene" id="12924084-7-70-89">interferon alpha-2a</span> or anagrelide for <span class="disease" id="12924084-7-108-132">essential thrombocytosis</span>. | CTD_human |
7 | 0 | Therapeutic | C0524909 | Hepatitis B, Chronic | disease | chronic hepatitis B | 3440 | IFNA2 | Interferon alpha-2b | CTD_human | 16,557,544 | Interferon alpha-2b with and without ribavirin in the treatment of hepatitis B e antigen-positive chronic hepatitis B: a randomized study. | 0.206044 | <span class="gene" id="16557544-0-0-19">Interferon alpha-2b</span> with and without ribavirin in the treatment of hepatitis B e antigen-positive <span class="disease" id="16557544-0-98-117">chronic hepatitis B</span>: a randomized study. | CTD_human |
null | null | Negative | MESH:D005235 | null | null | alcoholic fatty liver | 56636 | null | FGF21 | null | 28,131,861 | This study investigates the relationship between the PPARa-FGF21 axis and the enhanced alcoholic fatty liver in Cyp2a5<sup>-/-</sup>mice. | null | null | null |
2 | 0 | Biomarker | C0014556 | Epilepsy, Temporal Lobe | disease | temporal-lobe epilepsy | 5027 | P2RX7 | P2X7 receptor | CTD_human | 19,084,381 | Alteration of purinergic P2X4 and P2X7 receptor expression in rats with temporal-lobe epilepsy induced by pilocarpine. | 0.2 | Alteration of purinergic P2X4 and <span class="gene" id="19084381-0-34-47">P2X7 receptor</span> expression in rats with <span class="disease" id="19084381-0-72-94">temporal-lobe epilepsy</span> induced by pilocarpine. | CTD_human |
null | null | Negative | MESH:D064420 | null | null | toxicity | 12566 | null | cyclin-dependent kinase 2 | null | 28,003,546 | We report that cyclin-dependent kinase 2 (CDK2) phosphorylates polyQ-AR specifically at Ser<sup>96</sup>Phosphorylation of polyQ-AR by CDK2 increased protein stabilization and toxicity and is negatively regulated by the adenylyl cyclase (AC)/protein kinase A (PKA) signaling pathway. | null | null | null |
null | null | Negative | MESH:D064146 | null | null | ICT | 25802;7318 | null | D1 and 8 | null | 28,013,913 | Before CCRT, 3 cycles of ICT with G 1000 mg/m(2) and V 30 mg/m(2) on D1 and 8 were given every 3 weeks. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 22035 | null | TRAIL | null | 28,052,019 | In the present study, we generated mouse models of breast cancer and demonstrated that activated pDCs can directly kill breast tumor cells through TRAIL and Granzyme B. | null | null | null |
null | null | Negative | MESH:D050197 | null | null | atherosclerotic | 11816 | null | Apolipoprotein-E | null | 28,089,144 | METHODS AND RESULTS: Apolipoprotein-E (ApoE)<sup>-/-</sup> mice fed an atherogenic diet and treated with aldosterone for 4weeks showed increased vascular expression of ICAM-1, paralleled by enhanced atherosclerotic plaque size in the aortic root. | null | null | null |
null | null | Negative | MESH:D002607 | null | null | Charcot-Marie-Tooth disease | 6305 | null | CMT4B3 | null | 28,005,197 | Biallelic mutations in the SBF1 gene have been identified in one family with demyelinating Charcot-Marie-Tooth disease (CMT4B3) and two families with axonal neuropathy and additional neurological and skeletal features. | null | null | null |
null | null | Negative | MESH:C566991 | null | null | CP | 55354 | null | ORF1 | null | 28,176,159 | Amino acid sequence comparisons revealed 99.73, 99.81, 98.44, and 100% identity in the ORF1, ORF2, MP, and CP, respectively, between S-47 and J-76. | null | null | null |
1 | 0 | Biomarker | C0027819 | Neuroblastoma | disease | neuroblastoma | 7015 | TERT | TERT | CTD_human | 26,523,776 | TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors. | 0.204931 | <span class="gene" id="26523776-0-0-4">TERT</span> rearrangements are frequent in <span class="disease" id="26523776-0-36-49">neuroblastoma</span> and identify aggressive tumors. | CTD_human |
2 | 0 | Biomarker | C0038220 | Status Epilepticus | disease | status epilepticus | 2668 | GDNF | GDNF | CTD_human | 12,914,250 | To observe the dynamic expression of GDNF and their receptors in the brain of rats after status epilepticus(SE). | 0.2 | To observe the dynamic expression of <span class="gene" id="12914250-1-37-41">GDNF</span> and their receptors in the brain of rats after <span class="disease" id="12914250-1-89-107">status epilepticus</span>(SE). | CTD_human |
9 | 0 | Biomarker | C0020179 | Huntington Disease | disease | HD | 3064 | HTT | huntingtin | CTD_human | 17,925,440 | Huntington's disease (HD) is a progressive neurodegenerative disease caused by a glutamine expansion within huntingtin protein. | 0.762381 | <span class="disease" id="17925440-1-0-20">Huntington's disease</span> (<span class="disease" id="17925440-1-22-24">HD</span>) is a progressive neurodegenerative disease caused by a glutamine expansion within <span class="gene" id="17925440-1-108-118">huntingtin</span> protein. | CTD_human;ORPHANET |
null | null | Negative | MESH:C538265 | null | null | attenuated colitis | 21898 | null | TLR4 | null | 28,189,973 | In conclusion, oral administration of ML attenuated colitis in mice by inhibiting the binding of LPS to TLR4 on immune cells and increasing the polarization of M1 macrophages to M2 macrophages. | null | null | null |
1 | 0 | Biomarker | C0018818 | Ventricular Septal Defects | group | ventricular septal defect | 2056 | EPO | erythropoietin | CTD_human | 19,337,937 | We report the case of a 50-year-old body-builder Caucasian man with a long-standing abuse of nandrolone and erythropoietin that developed a ventricular septal defect following acute myocardial infarction. | 0.2 | We report the case of a 50-year-old body-builder Caucasian man with a long-standing abuse of nandrolone and <span class="gene" id="19337937-2-108-122">erythropoietin</span> that developed a <span class="disease" id="19337937-2-140-165">ventricular septal defect</span> following acute myocardial infarction. | CTD_human |
null | null | Negative | MESH:D020896 | null | null | hypovolemic | 396995 | null | vasopressin | null | 28,140,438 | Our study compared the kinetics of vasopressin and ROSC with HIO with IV access in the hypovolemic swine model. | null | null | null |
2 | 0 | Biomarker | C0027627 | Neoplasm Metastasis | phenotype | metastasis | 6774 | STAT3 | STAT3 | CTD_human | 21,937,440 | Through transcriptional regulation of its target genes, STAT3 controls a wide range of cellular processes, including cellular proliferation, oncogenesis, and cancer metastasis. | 0.234312 | Through transcriptional regulation of its target genes, <span class="gene" id="21937440-3-56-61">STAT3</span> controls a wide range of cellular processes, including cellular proliferation, oncogenesis, and cancer <span class="disease" id="21937440-3-165-175">metastasis</span>. | CTD_human |
null | null | Negative | MESH:D019965 | null | null | organic disorders | 4493 | null | MTD | null | 28,190,663 | METHODS: The study sample consisted of 280 patients (174 males and 106 females) diagnosed with MTD, benign organic disorders such as polyps and nodules, and unilateral vocal fold paralysis and cancer. | null | null | null |
1 | 1 | Biomarker | C0004096 | Asthma | disease | asthma | 149628 | PYHIN1 | PYHIN1 | CTD_human | 21,804,549 | In addition, we identified a new asthma susceptibility locus at PYHIN1, with the association being specific to individuals of African descent (P = 3.9 × 10(-9)). | 0.200824 | In addition, we identified a new <span class="disease" id="21804549-4-33-39">asthma</span> susceptibility locus at <span class="gene" id="21804549-4-64-70">PYHIN1</span>, with the association being specific to individuals of African descent (P = 3.9 × 10(-9)). | CTD_human |
null | null | Negative | MESH:D009336 | null | null | necrosis | 24494 | null | interleukin-1beta | null | 28,152,042 | Western blot analysis was performed to determine protein expression of high-mobility group box 1 (HMGB1), toll-like receptor-4 (TLR-4), phosphorylated nuclear factor-kappa B (p-NF-kB), interleukin-1beta (IL-1b), tumor necrosis factor-alpha (TNF-a), phosphorylated inducible and endothelial nitric oxide synthase (p-iNOS, p-eNOS), Bcl-2, Bax, Cytochrome C, and caspase-3 in the brain. | null | null | null |
null | null | Negative | MESH:D020295 | null | null | stemness | 22937 | null | SCAP | null | 28,190,588 | CONCLUSIONS: Under inflammatory conditions, human apical papilla was found moderately inflamed with retained SCAP vitality and stemness and increased osteogenic and angiogenesis potential. | null | null | null |
null | null | Negative | MESH:C535600 | null | null | b-cyclodextrin-graphene sheets | 213 | null | serum albumin | null | 28,039,809 | Briefly, antibody 1 (Ab1), bovine serum albumin (BSA), antigen and ZnO-multiwalled carbon nanotubes (MWCNTs) labeled antibody 2 (Ab2-ZnO-MWCNTs) were successively anchored on a b-cyclodextrin-graphene sheets (CD-GS) nanocomposite modified glassy carbon electrode (GCE), forming a sandwich-type immunoelectrode (Ab2-ZnO-MWCNTs/antigen/BSA/Ab1/CD-GS/GCE). | null | null | null |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 83943 | IMMP2L | IMMP2L | CTD_human | 19,401,682 | High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. | 0.203231 | High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the <span class="gene" id="19401682-0-112-118">IMMP2L</span>-DOCK4 gene region in <span class="disease" id="19401682-0-140-146">autism</span> susceptibility. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | malignancies | 21939 | null | CD40 | null | 28,015,288 | UNASSIGNED: 2577 Background: CD40, a member of the tumour necrosis factor receptor super-family is expressed primarily on antigen presenting cells (APCs) but has also been described on a number of malignancies. | null | null | null |
null | null | Negative | MESH:D003967 | null | null | diarrhea | 963084 | null | CPT-11 | null | 28,015,359 | The CPT-11 dose was escalated to 200 mg/m(2) in 26 cycles (20%), and reduced to 75% in 22 cycles (17%) because G2 diarrhea (59%) and neutropenia >= G2 (41%) occurred; 2.4% of the pts had G3 neutropenia. | null | null | null |
null | null | Negative | MESH:D012509 | null | null | sarcoma | 71514 | null | SFPQ | null | 28,147,269 | Fused in sarcoma (FUS) and splicing factor, proline- and glutamine-rich (SFPQ) are RNA binding proteins that regulate RNA metabolism. | null | null | null |
51 | 124 | Biomarker | C1142166 | Brugada Syndrome (disorder) | disease | Brugada syndrome | 6331 | SCN5A | SCN5A | CTD_human | 15,520,322 | Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations. | 0.843536 | Value of electrocardiographic parameters and ajmaline test in the diagnosis of <span class="disease" id="15520322-0-79-95">Brugada syndrome</span> caused by <span class="gene" id="15520322-0-106-111">SCN5A</span> mutations. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C0242339 | Dyslipidemias | group | dyslipidemia | 196 | AHR | AhR | CTD_human | 21,890,736 | 2,3,7,8-tetrachlorodibenzo-?-dioxin (TCDD) induces hepatic dyslipidemia mediated by the aryl hydrocarbon receptor (AhR). | 0.2 | 2,3,7,8-tetrachlorodibenzo-?-dioxin (TCDD) induces hepatic <span class="disease" id="21890736-1-59-71">dyslipidemia</span> mediated by the <span class="gene" id="21890736-1-88-113">aryl hydrocarbon receptor</span> (<span class="gene" id="21890736-1-115-118">AhR</span>). | CTD_human |
null | null | Negative | MESH:D010048 | null | null | ovarian cyst | 3342 | null | hCG | null | 28,191,116 | The hCG resolved after removal of the ovarian cyst. | null | null | null |
1 | 0 | Biomarker | C1275808 | Congenital central hypoventilation | disease | congenital central hypoventilation syndrome | 1908 | EDN3 | Endothelin-3 | CTD_human | 8,696,331 | Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome. | 0.4 | <span class="gene" id="8696331-0-0-12">Endothelin-3</span> frameshift mutation in <span class="disease" id="8696331-0-36-79">congenital central hypoventilation syndrome</span>. | CTD_human;ORPHANET |
null | null | Negative | MESH:C566236 | null | null | AA | 4524 | null | MTHFR | null | 28,021,222 | Pts carrying MTHFR 1298 AA had a longer OS (21.3 months) compared with pts carrying AC or CC (8.7 months). | null | null | null |
1 | 0 | Biomarker | C0004096 | Asthma | disease | asthma | 384 | ARG2 | ARG2 | CTD_human | 19,281,908 | Compared with the most common haplotype within each locus, 1 ARG1 haplotype was associated with reduced risk (odds ratio [OR] per haplotype copy, 0.55; 95% CI, 0.36-0.84), and 1 ARG2 haplotype was associated with increased risk (OR per haplotype copy, 1.35; 95% CI, 1.04-1.76) of asthma. | 0.207287 | Compared with the most common haplotype within each locus, 1 ARG1 haplotype was associated with reduced risk (odds ratio [OR] per haplotype copy, 0.55; 95% CI, 0.36-0.84), and 1 <span class="gene" id="19281908-7-178-182">ARG2</span> haplotype was associated with increased risk (OR per haplotype copy, 1.35; 95% CI, 1.04-1.76) of <span class="disease" id="19281908-7-280-286">asthma</span>. | CTD_human |
1 | 0 | Biomarker | C0085681 | Hyperphosphatemia (disorder) | disease | hyperphosphatemia | 8074 | FGF23 | FGF23 | CTD_human | 17,710,231 | This patient exhibited defects in mineral ion homeostasis with marked hyperphosphatemia and hypercalcemia as well as elevated serum levels of parathyroid hormone and FGF23. | 0.208502 | This patient exhibited defects in mineral ion homeostasis with marked <span class="disease" id="17710231-3-70-87">hyperphosphatemia</span> and hypercalcemia as well as elevated serum levels of parathyroid hormone and <span class="gene" id="17710231-3-166-171">FGF23</span>. | CTD_human |
3 | 0 | Biomarker | C0025202 | melanoma | disease | melanoma | 2194 | FASN | fatty acid synthase | CTD_human | 20,805,790 | Inhibition of fatty acid synthase in melanoma cells activates the intrinsic pathway of apoptosis. | 0.200549 | Inhibition of <span class="gene" id="20805790-0-14-33">fatty acid synthase</span> in <span class="disease" id="20805790-0-37-45">melanoma</span> cells activates the intrinsic pathway of apoptosis. | CTD_human |
3 | 0 | Biomarker | C0005586 | Bipolar Disorder | disease | bipolar disorder | 6869 | TACR1 | TACR1 | CTD_human | 19,204,064 | Four single-nucleotide polymorphisms (rs3771829, rs3771833, rs3771856, and rs1701137) at the TACR1 gene, previously known to be associated with bipolar disorder or alcoholism, were strongly associated with ADHD. | 0.400549 | Four single-nucleotide polymorphisms (rs3771829, rs3771833, rs3771856, and rs1701137) at the <span class="gene" id="19204064-9-93-98">TACR1</span> gene, previously known to be associated with <span class="disease" id="19204064-9-144-160">bipolar disorder</span> or alcoholism, were strongly associated with ADHD. | CTD_human;PSYGENET |
null | null | Negative | MESH:D004194 | null | null | TMAO | 7412 | null | vascular cell adhesion molecule-1 | null | 28,153,917 | In addition, we found TMAO up-regulated vascular cell adhesion molecule-1 (VCAM-1) expression, promoted monocyte adherence, activated protein kinase C (PKC) and p-NF-kB. | null | null | null |
null | null | Negative | MESH:D007249 | null | null | inflammation | 56760 | null | CLEC-2 | null | 28,028,907 | CLEC-2 depletion prolongs cancer survival by suppressing thrombosis and inflammation. | null | null | null |
null | null | Negative | MESH:D001259 | null | null | ataxia | 28509 | null | DM1 | null | 28,168,524 | Myotonic dystrophy type 1 (DM1) is not characterised by ataxia per se; however, DM1 and ataxia patients show similar disturbances in movement coordination often experiencing walking and balance difficulties, although caused by different underlying pathologies. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 442858 | null | E-cadherin | null | 28,074,714 | Immunohistochemically, tumor cells were positive for CK AE1/AE3, low-molecular-weight CK (CAM5.2), E-cadherin, mitochondria ATPase beta subunit, and S100, but were negative for vimentin, carcinoembryonic antigen, p63, CK14, CD10, and chromogranin A. Ultrastructurally, tumor cells contained numerous mitochondria. | null | null | null |
6 | 2 | Therapeutic | 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:D016301 | null | null | bone loss | 9173;292 | null | T1 and T3 | null | 28,060,023 | Approximately 40% of bone loss (0.34 mm) was noted between T1 and T3 (P < 0.05), which corresponds to the loading period. | null | null | null |
null | null | Negative | MESH:D004630 | null | null | ED | 3645 | null | IRR | null | 28,141,276 | The likelihood of having any ED visit was similar between cancer survivors and those with other conditions, however cancer survivors incurred more visits (IRR: 1.17; 95% CI: 1.01, 1.36). | null | null | null |
null | null | Negative | MESH:D007029 | null | null | neurohypophysis | 5020 | null | OXT | null | 28,072,496 | Oxytocin (OXT) and arginine vasopressin (AVP) neuropeptides in the neurohypophysis (NH) control lactation and body fluid homeostasis, respectively. | null | null | null |
1 | 0 | Therapeutic | C2239176 | Liver carcinoma | disease | HCC | 117145 | THEM4 | carboxyl-terminal modulator protein | CTD_human | 23,392,203 | Successful self-cleavage of 2A-peptide induced synergistic antitumor effect in the liver of H-ras12V, the HCC model mice, by simultaneous activation of LETM1 (Leucine zipper/EF hand-containing transmembrane-1) and CTMP (carboxyl-terminal modulator protein). | 0.200275 | Successful self-cleavage of 2A-peptide induced synergistic antitumor effect in the liver of H-ras12V, the <span class="disease" id="23392203-3-106-109">HCC</span> model mice, by simultaneous activation of LETM1 (Leucine zipper/EF hand-containing transmembrane-1) and <span class="gene" id="23392203-3-214-218">CTMP</span> (<span class="gene" id="23392203-3-220-255">carboxyl-terminal modulator protein</span>). | CTD_human |
null | null | Negative | MESH:D030342 | null | null | molecular dynamics | 5831 | null | P5CR | null | 28,095,341 | In order to probe the role of the R119G mutation in cutis laxa, we performed molecular dynamics (MD) simulations, essential dynamics (ED) analysis, and Molecular mechanics Poisson-Boltzmann surface area (MM-PBSA) binding free energy calculations on wild type (WT) and mutant P5CR-NAD complex. | null | null | null |
1 | 0 | Biomarker | C0007193 | Cardiomyopathy, Dilated | group | dilated cardiomyopathy | 5879 | RAC1 | Rac1 | CTD_human | 16,155,095 | A two-dimensional gel electrophoresis (2-DE)-based proteomic approach was used to study a transgenic mouse model of acerbated dilated cardiomyopathy in which the small monomeric GTPase, Rac1, was constitutively expressed exclusively in the myocardium. | 0.2 | A two-dimensional gel electrophoresis (2-DE)-based proteomic approach was used to study a transgenic mouse model of acerbated <span class="disease" id="16155095-1-126-148">dilated cardiomyopathy</span> in which the small monomeric GTPase, <span class="gene" id="16155095-1-186-190">Rac1</span>, was constitutively expressed exclusively in the myocardium. | CTD_human |
64 | 0 | Therapeutic | C0002871 | Anemia | disease | anemia | 2056 | EPO | erythropoietin | CTD_human | 8,250,662 | Clinical studies have shown recombinant human erythropoietin (r-HuEPO) to be effective in correcting the anemia of zidovudine-treated patients infected with human immunodeficiency virus with baseline serum erythropoietin levels of 500 U/L or less. | 0.24092 | Clinical studies have shown recombinant human erythropoietin (r-HuEPO) to be effective in correcting the <span class="disease" id="8250662-2-105-111">anemia</span> of zidovudine-treated patients infected with human immunodeficiency virus with baseline serum <span class="gene" id="8250662-2-206-220">erythropoietin</span> levels of 500 U/L or less. | CTD_human |
null | null | Negative | MESH:C531629 | null | null | GBS infection | 7124 | null | TNF-a | null | 28,147,379 | RESULTS: DSCs showed a significant increase in IL-6 (p < 0.05), TNF-a (p < 0.05), IL-10 (p < 0.01), and TGF-b (p < 0.05) secretion after GBS infection, while these changes were not observed in infected ESCs. | null | null | null |
1 | 0 | Biomarker | C0013595 | Eczema | disease | atopic dermatitis | 2312 | FLG | filaggrin | CTD_human | 17,417,636 | We found three additional rare null mutations in this case series, suggesting that the genetic architecture of filaggrin-related atopic dermatitis consists of both prevalent and rare risk alleles. | 0.492578 | We found three additional rare null mutations in this case series, suggesting that the genetic architecture of <span class="gene" id="17417636-6-111-120">filaggrin</span>-related <span class="disease" id="17417636-6-129-146">atopic dermatitis</span> consists of both prevalent and rare risk alleles. | CTD_human;HPO |
1 | 0 | Therapeutic | C0026769 | Multiple Sclerosis | disease | MS | 4162 | MCAM | CD146 | CTD_human | 23,595,028 | Moreover, treating both active and passive MS models with the anti-CD146 antibody AA98 significantly decreased the infiltrated lymphocytes in the CNS and decreased neuroinflammation. | 0.2 | Moreover, treating both active and passive <span class="disease" id="23595028-3-43-45">MS</span> models with the anti-<span class="gene" id="23595028-3-67-72">CD146</span> antibody AA98 significantly decreased the infiltrated lymphocytes in the CNS and decreased neuroinflammation. | CTD_human |
null | null | Negative | MESH:D006948 | null | null | hyperactivity | 81648 | null | CRH | null | 28,162,848 | In conclusion, the chronic hyperactivity of the stress axis and PVN CRH-R2 resistance to Ucn2 effects, supported impaired receptor functionality in MS animals, probably due to its chronic stimulation by CRH or Ucn2, induced by early-life stress. | null | null | null |
null | null | Negative | MESH:C566610 | null | null | axis | 4342 | null | CMOS | null | 28,134,824 | A light source, e.g., a laser diode, is affixed to a movable axis and projects a random geometric shape on an image sensor (CMOS or CCD). | null | null | null |
null | null | Negative | MESH:D002544 | null | null | ischemic stroke | 140908 | null | CDK5 | null | 28,045,138 | Abundant evidence indicates that CDK5 hyperactivities associated with neuronal apoptosis and death following ischemic stroke. | null | null | null |
1 | 0 | Biomarker | C0020456 | Hyperglycemia | disease | hyperglycemia | 4780 | NFE2L2 | Nuclear factor erythroid 2-related factor 2 | CTD_human | 20,086,057 | Nuclear factor erythroid 2-related factor 2 deletion impairs glucose tolerance and exacerbates hyperglycemia in type 1 diabetic mice. | 0.200824 | <span class="gene" id="20086057-0-0-43">Nuclear factor erythroid 2-related factor 2</span> deletion impairs glucose tolerance and exacerbates <span class="disease" id="20086057-0-95-108">hyperglycemia</span> in type 1 diabetic mice. | CTD_human |
6 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 5021 | OXTR | oxytocin receptor | CTD_human | 15,992,526 | Positive association of the oxytocin receptor gene (OXTR) with autism in the Chinese Han population. | 0.226334 | Positive association of the <span class="gene" id="15992526-0-28-45">oxytocin receptor</span> gene (OXTR) with <span class="disease" id="15992526-0-63-69">autism</span> in the Chinese Han population. | CTD_human |
1 | 0 | Biomarker | C0004153 | Atherosclerosis | disease | atherosclerosis | 3481 | IGF2 | Insulin-like growth factor II | CTD_human | 11,726,660 | Insulin-like growth factor II plays a central role in atherosclerosis in a mouse model. | 0.205689 | <span class="gene" id="11726660-0-0-29">Insulin-like growth factor II</span> plays a central role in <span class="disease" id="11726660-0-54-69">atherosclerosis</span> in a mouse model. | CTD_human |
null | null | Negative | MESH:D049912 | null | null | somatotropinomas | 999 | null | E-cadherin | null | 28,176,162 | Several factors may determine the response to these drugs, such as sst, AIP, E-cadherin, ZAC1, filamin A and b-arrestin expression in the somatotropinomas. | null | null | null |
14 | 0 | Biomarker | C0018995 | Hemochromatosis | disease | hemochromatosis | 3077 | HFE | HFE | CTD_human | 17,258,727 | Genetic study of variation in normal mouse iron homeostasis reveals ceruloplasmin as an HFE-hemochromatosis modifier gene. | 0.44 | Genetic study of variation in normal mouse iron homeostasis reveals ceruloplasmin as an <span class="gene" id="17258727-0-88-91">HFE</span>-<span class="disease" id="17258727-0-92-107">hemochromatosis</span> modifier gene. | CTD_human |
5 | 0 | Biomarker | C0027627 | Neoplasm Metastasis | phenotype | metastasis | 4313 | MMP2 | MMP-2 | CTD_human | 18,398,872 | Matrix metalloproteinase-2 (MMP-2) is a key enzyme in the degradation of extracellular matrices and its expression has been dysregulated in breast cancer invasion and metastasis. | 0.377587 | <span class="gene" id="18398872-5-0-26">Matrix metalloproteinase-2</span> (<span class="gene" id="18398872-5-28-33">MMP-2</span>) is a key enzyme in the degradation of extracellular matrices and its expression has been dysregulated in breast cancer invasion and <span class="disease" id="18398872-5-167-177">metastasis</span>. | CTD_human |
1 | 0 | Biomarker | C0024121 | Lung Neoplasms | group | lung tumors | 7508 | XPC | XPC | CTD_human | 17,325,666 | Among the analysis of the hypermethylation status of 158 lung tumors, XPC hypermethylation is more common in nonsmokers (39 of 94, 41%) than in smokers (14 of 64, 22%; P=0.010). | 0.213613 | Among the analysis of the hypermethylation status of 158 <span class="disease" id="17325666-7-57-68">lung tumors</span>, <span class="gene" id="17325666-7-70-73">XPC</span> hypermethylation is more common in nonsmokers (39 of 94, 41%) than in smokers (14 of 64, 22%; P=0.010). | CTD_human |
null | null | Negative | MESH:D001943 | null | null | breast cancer | 5177 | null | PIH | null | 28,102,720 | BACKGROUND: Previous studies investigating the relationship between pregnancy-induced hypertension (PIH) and breast cancer risk have yielded inconsistent results. | null | null | null |
null | null | Negative | MESH:D008269 | null | null | Diabetic Macular Edema | 50968 | null | FAME | null | 28,081,945 | OBJECTIVE: To investigate the effects of fluocinolone acetonide (FAc) on the progression to proliferative diabetic retinopathy (PDR) and the impact of FAc on changes in Early Treatment Diabetic Retinopathy Study (ETDRS) diabetic retinopathy (DR) severity scale (DRSS) grade during the Fluocinolone Acetonide in Diabetic Macular Edema (FAME) A and B Phase III clinical trials. | null | null | null |
4 | 1 | Biomarker | C0036341 | Schizophrenia | disease | schizophrenia | 5649 | RELN | Reelin | CTD_human | 11,126,396 | Reduction in Reelin immunoreactivity in hippocampus of subjects with schizophrenia, bipolar disorder and major depression. | 0.328957 | Reduction in <span class="gene" id="11126396-0-13-19">Reelin</span> immunoreactivity in hippocampus of subjects with <span class="disease" id="11126396-0-69-82">schizophrenia</span>, bipolar disorder and major depression. | CTD_human |
null | null | Negative | MESH:D014842 | null | null | von Willebrand | 18596 | null | platelet-derived growth factor receptor-b | null | 28,170,170 | Immunohistochemistry demonstrated the location of perivascular markers (CD146, CD34, neural/glial antigen 2 [NG2], platelet-derived growth factor receptor-b [PDGFRb], and a-smooth muscle actin [a-SMA]) in relation to endothelial markers (CD31, CD144, von Willebrand factor [vWF]). | null | null | null |
3 | 41 | Biomarker | C0041341 | Tuberous Sclerosis | disease | tuberous sclerosis complex | 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. | 0.508357 | Tsc2 gene inactivation causes a more severe epilepsy phenotype than <span class="gene" id="21062901-0-68-72">Tsc1</span> inactivation in a mouse model of <span class="disease" id="21062901-0-106-132">tuberous sclerosis complex</span>. | CTD_human;ORPHANET |
2 | 0 | Biomarker | C0005695 | Bladder Neoplasm | disease | bladder cancer | 9582 | APOBEC3B | APOBEC3B | CTD_human | 27,643,540 | In vitro, APOBEC3B expression was predominantly induced by treatment with a DNA-damaging drug in bladder cancer cell lines, and APOBEC3A expression was induced as part of the antiviral interferon-stimulated response in breast cancer cell lines. | 0.2 | In vitro, <span class="gene" id="27643540-5-10-18">APOBEC3B</span> expression was predominantly induced by treatment with a DNA-damaging drug in <span class="disease" id="27643540-5-97-111">bladder cancer</span> cell lines, and APOBEC3A expression was induced as part of the antiviral interferon-stimulated response in breast cancer cell lines. | CTD_human |
null | null | Negative | MESH:C562790 | null | null | HCA2 | 3553 | null | IL-1b | null | 28,186,140 | We found that proinflammatory stimulants LPS, IL-6 and IL-1b up-regulated the expression of HCA2 on macrophages. | null | null | null |
7 | 0 | Biomarker | C0009375 | Colonic Neoplasms | group | colon tumors | 324 | APC | APC | CTD_human | 8,608,549 | Only 2 of 13 IQ-induced colon tumors had mutations of the APC gene and these were base substitution mutations. | 0.311809 | Only 2 of 13 IQ-induced <span class="disease" id="8608549-8-24-36">colon tumors</span> had mutations of the <span class="gene" id="8608549-8-58-61">APC</span> gene and these were base substitution mutations. | CTD_human |
null | null | Negative | MESH:C566019 | null | null | congenital amusia | 7984 | null | Tim | null | 28,001,646 | Here, we present the unique case of Tim Falconer, a self-described musicophile who also suffers from congenital amusia. | null | null | null |
null | null | Negative | MESH:D002292 | null | null | osteoclast-like MNCs | 21943 | null | RANKL | null | 28,204,822 | A synergistic effect of IL-1b on the formation of RANKL-induced osteoclast-like MNCs was found in two experimental cells. | null | null | null |
null | null | Negative | MESH:D056486 | null | null | liver injury | 20303 | null | CCl4 | null | 28,058,188 | For the induction of chronic liver injury, mice were repetitively administered twice a week with CCl4, a well-known hepatotoxin, for a period of 4 weeks. | null | null | null |
null | null | Negative | MESH:D004194 | null | null | stable disease | 2064 | null | HER-2 | null | 28,021,680 | METHODS: From December 2009 to November 2010, 15 HER-2 negative MBC pts received mC 1500 mg daily plus D 75 mg/m(2) on day 1 of a 4-week cycle up to 6 cycles, followed by mC as maintenance, in case of response or stable disease. | null | null | null |
null | null | Negative | MESH:D007674 | null | null | renal vascular fibrosis | 24323 | null | endothelin-1 | null | 28,095,222 | These data indicate that angiotensin II and endothelin-1 participate in the mechanism(s) of renal vascular fibrosis by increasing extracellular matrix formation. | null | null | null |
null | null | Negative | MESH:D040181 | null | null | X-linked IAP | 108354 | null | IAP1 | null | 28,154,167 | Mechanistically, it preferentially recruits X-linked IAP (XIAP) rather than cellular IAP1, to degrade ERa via the ubiquitin-proteasome pathway. | null | null | null |
null | null | Negative | MESH:C562803 | null | null | HIBCH | 1593 | null | CYP27A1 | null | 28,097,321 | In 5 of these families, potentially treatable disorders were diagnosed (mutations in PAH, CBS, MTHFR, CYP27A1, and HIBCH), and in 1 family, 2 disease-causing homozygous variants in different genes were identified. | null | null | null |
null | null | Negative | MESH:D059327 | null | null | brachydactyly | 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:D007249 | null | null | inflammation | 397422 | null | MCP-1 | null | 28,002,439 | Markers for tissue damage due to ROS (HNE), endothelial cell activation (CD31) and inflammation (IgG, C3b/c, C5b9, MCP-1) were assessed on tissue and/or in serum. | null | null | null |
null | null | Negative | MESH:D000860 | null | null | hypoxia | 16000 | null | IGF1 | null | 28,053,000 | These results demonstrate that the molecular machinery necessary for transcriptional control of proliferation remains intact in IUGR fetal myoblasts, indicating that in vivo factors such as reduced insulin and IGF1, hypoxia and/or elevated counter-regulatory hormones may be inhibiting muscle growth in IUGR fetuses. | null | null | null |
null | null | Negative | MESH:D005355 | null | null | fibrosis | 13590 | null | Lefty | null | 28,213,468 | Lefty A, a potent inhibitor of transforming growth factor (TGF)-b signaling, has been shown to have promising antifibrotic ability in vitro for the treatment of renal fibrosis and other potential organ fibroses. | null | null | null |
null | null | Negative | MESH:D007511 | null | null | ischemic | 230796 | null | Adipose | null | 28,131,942 | UNASSIGNED: Adipose-derived stem cells (ASCs) secrete several angiogenic growth factors and can be applied to treat ischemic tissue. | null | null | null |
1 | 0 | Biomarker | C0038454 | Cerebrovascular accident | group | stroke | 3569 | IL6 | IL-6 | CTD_human | 18,319,729 | These analyses showed that IL-6 was independently associated with stroke severity as the outcome (B=3.738, P=0.036), and aspirin resistance was independently associated with IL-6 (B=0.765, P=0.005) as the outcome. | 0.250069 | These analyses showed that <span class="gene" id="18319729-8-27-31">IL-6</span> was independently associated with <span class="disease" id="18319729-8-66-72">stroke</span> severity as the outcome (B=3.738, P=0.036), and aspirin resistance was independently associated with <span class="gene" id="18319729-8-174-178">IL-6</span> (B=0.765, P=0.005) as the outcome. | CTD_human |
1 | 0 | Biomarker | C0002395 | Alzheimer's Disease | disease | Alzheimer disease | 5621 | PRNP | PRNP | CTD_human | 17,192,785 | In addition to identifying the epsilon4 allele of APOE and related effects, we pinpointed over a dozen potential Alzheimer disease susceptibility genes (ACE, CHRNB2, CST3, ESR1, GAPDHS, IDE, MTHFR, NCSTN, PRNP, PSEN1, TF, TFAM and TNF) with statistically significant allelic summary odds ratios (ranging from 1.11-1.38 for risk alleles and 0.92-0.67 for protective alleles). | 0.268074 | In addition to identifying the epsilon4 allele of APOE and related effects, we pinpointed over a dozen potential <span class="disease" id="17192785-5-113-130">Alzheimer disease</span> susceptibility genes (ACE, CHRNB2, CST3, ESR1, GAPDHS, IDE, MTHFR, NCSTN, <span class="gene" id="17192785-5-205-209">PRNP</span>, PSEN1, TF, TFAM and TNF) with statistically significant allelic summary odds ratios (ranging from 1.11-1.38 for risk alleles and 0.92-0.67 for protective alleles). | CTD_human |
1 | 0 | Biomarker | C0020473 | Hyperlipidemia | disease | hyperlipidemia | 4846 | NOS3 | endothelial nitric oxide synthase | CTD_human | 11,457,755 | Insulin resistance, hyperlipidemia, and hypertension in mice lacking endothelial nitric oxide synthase. | 0.200549 | Insulin resistance, <span class="disease" id="11457755-0-20-34">hyperlipidemia</span>, and hypertension in mice lacking <span class="gene" id="11457755-0-69-102">endothelial nitric oxide synthase</span>. | CTD_human |
1 | 0 | Biomarker | C0025202 | melanoma | disease | melanomas | 2185 | PTK2B | PTK2B | CTD_human | 19,718,025 | We found ERBB4 mutations in 19% of individuals with melanoma and found mutations in two other kinases (FLT1 and PTK2B) in 10% of individuals with melanomas. | 0.204055 | We found ERBB4 mutations in 19% of individuals with <span class="disease" id="19718025-4-52-60">melanoma</span> and found mutations in two other kinases (FLT1 and <span class="gene" id="19718025-4-112-117">PTK2B</span>) in 10% of individuals with <span class="disease" id="19718025-4-146-155">melanomas</span>. | CTD_human |
68 | 0 | Therapeutic | C0020538 | Hypertensive disease | group | hypertension | 5443 | POMC | ACTH | CTD_human | 3,015,460 | Changes in pressor responsiveness do not explain ACTH hypertension. | 0.203846 | Changes in pressor responsiveness do not explain <span class="gene" id="3015460-6-49-53">ACTH</span> <span class="disease" id="3015460-6-54-66">hypertension</span>. | CTD_human |