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2 | 2 | Biomarker | C0349639 | Juvenile Myelomonocytic Leukemia | disease | juvenile myelomonocytic leukaemia | 4893 | NRAS | NRAS | CTD_human | 19,775,298 | Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia. | 0.610634 | Germ-line mutation of the <span class="gene" id="19775298-0-26-30">NRAS</span> gene may be responsible for the development of <span class="disease" id="19775298-0-78-111">juvenile myelomonocytic leukaemia</span>. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C0004763 | Barrett Esophagus | disease | BE | 3576 | CXCL8 | IL-8 | CTD_human | 15,387,324 | (1) COX-2, PPARgamma, HGF, gastrin, and its receptor are significantly upregulated in BE, suggesting a possible role for these factors in Barrett's carcinogenesis; (2) the increased NFkappaB activity is probably linked to increased IL-8 and COX-2 expression; and (3) PPARgamma ligands might be useful as a new therapeutic option in the prevention and treatment of Barrett's carcinoma. | 0.202956 | (1) COX-2, PPARgamma, HGF, gastrin, and its receptor are significantly upregulated in <span class="disease" id="15387324-9-86-88">BE</span>, suggesting a possible role for these factors in Barrett's carcinogenesis; (2) the increased NFkappaB activity is probably linked to increased <span class="gene" id="15387324-9-232-236">IL-8</span> and COX-2 expression; and (3) PPARgamma ligands might be useful as a new therapeutic option in the prevention and treatment of Barrett's carcinoma. | CTD_human |
null | null | Negative | OMIM:612862 | null | null | DVT | 10507 | null | GR3 | null | 28,017,046 | Two patients experienced DVT's (one GR3 and one GR4). | null | null | null |
3 | 0 | Biomarker | C0027627 | Neoplasm Metastasis | phenotype | metastatic tumor | 7422 | VEGFA | VEGF | CTD_human | 15,659,795 | We have investigated the effect of IFNs/IFO treatment on the expression of vascular endothelial growth factor (VEGF), matrix metalloproteinase 9 (MMP-9), and urokinase plasminogen activator receptor (uPAR), three key mediators of tumor growth and angiogenesis, in tumor xenografts generated either from a primary tumor (EW7) or from a metastatic tumor (COH). | 0.342857 | We have investigated the effect of IFNs/IFO treatment on the expression of <span class="gene" id="15659795-5-75-109">vascular endothelial growth factor</span> (<span class="gene" id="15659795-5-111-115">VEGF</span>), matrix metalloproteinase 9 (MMP-9), and urokinase plasminogen activator receptor (uPAR), three key mediators of tumor growth and angiogenesis, in tumor xenografts generated either from a primary tumor (EW7) or from a <span class="disease" id="15659795-5-335-351">metastatic tumor</span> (COH). | CTD_human |
null | null | Negative | MESH:D005198 | null | null | FBS | 15450 | null | HPL | null | 28,024,508 | Bone marrow-derived mesenchymal stem cells were cultured in a-minimal essential medium (a-MEM) containing 10% HPL or 10% FBS. | null | null | null |
1 | 0 | Biomarker | C3887645 | Job Syndrome | disease | hyper IgE syndrome | 6774 | STAT3 | STAT3 | CTD_human | 25,038,750 | These findings emphasize the critical role of STAT3 in autoimmune disease and contrast with the germline inactivating STAT3 mutations that result in hyper IgE syndrome. | 0.23053 | These findings emphasize the critical role of <span class="gene" id="25038750-3-46-51">STAT3</span> in autoimmune disease and contrast with the germline inactivating <span class="gene" id="25038750-3-118-123">STAT3</span> mutations that result in <span class="disease" id="25038750-3-149-167">hyper IgE syndrome</span>. | CTD_human |
1 | 0 | Biomarker | C0025149 | Medulloblastoma | disease | medulloblastomas | 6447 | SCG5 | SGNE1 | CTD_human | 17,334,394 | SGNE1/7B2 is epigenetically altered and transcriptionally downregulated in human medulloblastomas. | 0.203008 | <span class="gene" id="17334394-0-0-5">SGNE1</span>/7B2 is epigenetically altered and transcriptionally downregulated in human <span class="disease" id="17334394-0-81-97">medulloblastomas</span>. | CTD_human |
null | null | Negative | MESH:D009136 | null | null | FacioScapuloHumeral Muscular Dystrophy | 2489 | null | FSHD | null | 28,040,729 | FacioScapuloHumeral Muscular Dystrophy (FSHD), one of the most common myopathies, is characterized by a complex interplay of genetic and epigenetic events. | null | null | null |
null | null | Negative | MESH:D015658 | null | null | HIV-1 | 155971 | null | Env | null | 28,133,805 | HIV-1 and its surface envelope glycoproteins (Env), gp120 and gp41, have evolved immune evasion strategies that render the elicitation of effective antibody responses to the functional Env entry unit extremely difficult. | null | null | null |
4 | 0 | Therapeutic | C0003873 | Rheumatoid Arthritis | disease | RA | 7124 | TNF | TNF | CTD_human | 2,001,072 | TNF thus appears an additional component of RA subclinical alveolitis in RA, but its prognostic value and its precise role in lung damage remain to be determined. | 0.50559 | <span class="gene" id="2001072-7-0-3">TNF</span> thus appears an additional component of <span class="disease" id="2001072-7-44-46">RA</span> subclinical alveolitis in <span class="disease" id="2001072-7-73-75">RA</span>, but its prognostic value and its precise role in lung damage remain to be determined. | CTD_human |
1 | 0 | Biomarker | C0017601 | Glaucoma | disease | glaucoma | 4638 | MYLK | MYLK | CTD_human | 20,375,339 | MYLK may be a new target for intervention in glaucoma to alter reactive astrocyte migration in the ONH. | 0.200275 | <span class="gene" id="20375339-11-0-4">MYLK</span> may be a new target for intervention in <span class="disease" id="20375339-11-45-53">glaucoma</span> to alter reactive astrocyte migration in the ONH. | CTD_human |
6 | 0 | Biomarker | C0005586 | Bipolar Disorder | disease | bipolar disorder | 6285 | S100B | S100B | CTD_human | 15,581,912 | Our findings reinforce the role of astroglial cells in the pathogenesis of bipolar disorder and S100B protein as a marker of bipolar mania. | 0.402682 | Our findings reinforce the role of astroglial cells in the pathogenesis of <span class="disease" id="15581912-5-75-91">bipolar disorder</span> and <span class="gene" id="15581912-5-96-101">S100B</span> protein as a marker of bipolar mania. | CTD_human;PSYGENET |
1 | 0 | Biomarker | C0014544 | Epilepsy | disease | epilepsy | 7249 | TSC2 | Tsc2 | 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. | 0.406253 | <span class="gene" id="21062901-0-0-4">Tsc2</span> gene inactivation causes a more severe <span class="disease" id="21062901-0-44-52">epilepsy</span> phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex. | CTD_human;HPO |
null | null | Negative | MESH:D006973 | null | null | hypertension | 26198 | null | COX-2 | null | 28,054,752 | The data underscore the preferential capacity of selective COX-2 inhibition by celecoxib to mitigate CSA hypertension and consequent alterations in cardiac performance and autonomic balance. | null | null | null |
2 | 1 | Biomarker | C0025202 | melanoma | disease | malignant melanoma | 51151 | SLC45A2 | SLC45A2 | CTD_human | 18,563,784 | SLC45A2: a novel malignant melanoma-associated gene. | 0.218391 | <span class="gene" id="18563784-0-0-7">SLC45A2</span>: a novel <span class="disease" id="18563784-0-17-35">malignant melanoma</span>-associated gene. | CTD_human |
1 | 0 | Biomarker | C0023895 | Liver diseases | group | liver disease | 4524 | MTHFR | MTHFR | CTD_human | 16,877,991 | Our data suggest that folate intake and the MTHFR polymorphism represent a part of the link between antioxidant status and liver disease in obese adolescent girls. | 0.209903 | Our data suggest that folate intake and the <span class="gene" id="16877991-12-44-49">MTHFR</span> polymorphism represent a part of the link between antioxidant status and <span class="disease" id="16877991-12-123-136">liver disease</span> in obese adolescent girls. | CTD_human |
1 | 0 | Biomarker | C0004775 | Bartter Disease | disease | Bartter's syndrome | 6557 | SLC12A1 | NKCC2 | CTD_human | 10,561,751 | Mutations of another voltage-gated chloride channel, CLC-Kb, are associated with a form of Bartter's syndrome, whereas other forms of Bartter's syndrome are caused by mutations in the bumetanide-sensitive sodium-potassium-chloride cotransporter (NKCC2) and the potassium channel, ROMK. | 0.214517 | Mutations of another voltage-gated chloride channel, CLC-Kb, are associated with a form of <span class="disease" id="10561751-3-91-109">Bartter's syndrome</span>, whereas other forms of <span class="disease" id="10561751-3-134-152">Bartter's syndrome</span> are caused by mutations in the bumetanide-sensitive sodium-potassium-chloride cotransporter (<span class="gene" id="10561751-3-246-251">NKCC2</span>) and the potassium channel, ROMK. | CTD_human |
1 | 5 | Biomarker | C0266313 | Allanson Pantzar McLeod syndrome | disease | renal tubular dysgenesis | 185 | AGTR1 | angiotensin II receptor type 1 | CTD_human | 16,116,425 | We studied 11 individuals with renal tubular dysgenesis, belonging to nine families, and found that they had homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1. | 0.6 | We studied 11 individuals with <span class="disease" id="16116425-3-31-55">renal tubular dysgenesis</span>, belonging to nine families, and found that they had homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or <span class="gene" id="16116425-3-234-264">angiotensin II receptor type 1</span>. | CTD_human;HPO;ORPHANET;UNIPROT |
3 | 0 | Biomarker | C0524851 | Neurodegenerative Disorders | group | neurodegenerative disorders | 3162 | HMOX1 | HO-1 | CTD_human | 10,942,521 | Activation of this HO-1-MnSOD axis may play an important role in the pathogenesis of Alzheimer disease, Parkinson disease and other free radical-related neurodegenerative disorders. | 0.201374 | Activation of this <span class="gene" id="10942521-6-19-23">HO-1</span>-MnSOD axis may play an important role in the pathogenesis of Alzheimer disease, Parkinson disease and other free radical-related <span class="disease" id="10942521-6-153-180">neurodegenerative disorders</span>. | CTD_human |
null | null | Negative | MESH:D002289 | null | null | non-small-cell lung cancer | 11682 | null | ALK | null | 28,189,201 | PURPOSE: To evaluate and compare the volumetric tumor burden changes during crizotinib therapy in mice and human cohorts with ALK-rearranged non-small-cell lung cancer (NSCLC). | null | null | null |
1 | 0 | Biomarker | C0079774 | Peripheral T-Cell Lymphoma | disease | PTCL | 472 | ATM | ATM | CTD_human | 24,413,734 | In addition, we describe new and recurrent, albeit less frequent, genetic defects including mutations in FYN, ATM, B2M and CD58 implicating SRC signaling, impaired DNA damage response and escape from immune surveillance mechanisms in the pathogenesis of PTCL. | 0.200824 | In addition, we describe new and recurrent, albeit less frequent, genetic defects including mutations in FYN, <span class="gene" id="24413734-5-110-113">ATM</span>, B2M and CD58 implicating SRC signaling, impaired DNA damage response and escape from immune surveillance mechanisms in the pathogenesis of <span class="disease" id="24413734-5-254-258">PTCL</span>. | CTD_human |
1 | 0 | Biomarker | C0677886 | Epithelial ovarian cancer | disease | EOC | 171024 | SYNPO2 | SYNPO2 | CTD_human | 25,581,431 | Variants at 1p36 (nearest gene, WNT4), 4q26 (SYNPO2), 9q34.2 (ABO) and 17q11.2 (ATAD5) were associated with EOC risk, and at 1p34.3 (RSPO1) and 6p22.1 (GPX6) variants were specifically associated with the serous EOC subtype, all with P < 5 × 10(-8). | 0.200275 | Variants at 1p36 (nearest gene, WNT4), 4q26 (<span class="gene" id="25581431-5-45-51">SYNPO2</span>), 9q34.2 (ABO) and 17q11.2 (ATAD5) were associated with <span class="disease" id="25581431-5-108-111">EOC</span> risk, and at 1p34.3 (RSPO1) and 6p22.1 (GPX6) variants were specifically associated with the serous <span class="disease" id="25581431-5-212-215">EOC</span> subtype, all with P < 5 × 10(-8). | CTD_human |
null | null | Negative | MESH:D008992 | null | null | Cynomolgus monkeys | 723827 | null | miR-221 | null | 28,131,282 | To evaluate the LNA-i-miR-221 pharmacokinetics and pharmacodynamics, novel assays for oligonucleotides quantification in NOD.SCID mice and Cynomolgus monkeys (Macaca fascicularis) plasma, urine and tissues were developed. | null | null | null |
null | null | Negative | MESH:D064420 | null | null | toxicity | 963084 | null | CPT-11 | null | 28,014,286 | To determine the efficacy and toxicity of CPT-11 and CDDP with TRT, we conducted a phase II study in patients with NSCLC. | null | null | null |
1 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | hepatocellular carcinomas | 5502 | PPP1R1A | Protein phosphatase inhibitor-1 | CTD_human | 15,010,824 | Protein phosphatase inhibitor-1 mRNA expression correlates with neoplastic transformation of epithelial liver cells and progression of hepatocellular carcinomas. | 0.2 | <span class="gene" id="15010824-0-0-31">Protein phosphatase inhibitor-1</span> mRNA expression correlates with neoplastic transformation of epithelial liver cells and progression of <span class="disease" id="15010824-0-135-160">hepatocellular carcinomas</span>. | CTD_human |
null | null | Negative | MESH:D001859 | null | null | CIBP | 63873 | null | TRPV4 | null | 28,103,434 | Expression of TRPV1, TRPV4, ASIC1, ASIC2, and ASIC3 in the CIBP with quetiapine treatment group was significantly lower than that in the CIBP group. | null | null | null |
null | null | Negative | MESH:C536962 | null | null | TS | 1956 | null | EGFR | 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 |
69 | 0 | Therapeutic | C0020538 | Hypertensive disease | group | hypertension | 183 | AGT | angiotensin II | CTD_human | 24,342,267 | Chronic infusion of enalaprilat into hypothalamic paraventricular nucleus attenuates angiotensin II-induced hypertension and cardiac hypertrophy by restoring neurotransmitters and cytokines. | 0.52 | Chronic infusion of enalaprilat into hypothalamic paraventricular nucleus attenuates <span class="gene" id="24342267-0-85-99">angiotensin II</span>-induced <span class="disease" id="24342267-0-108-120">hypertension</span> and cardiac hypertrophy by restoring neurotransmitters and cytokines. | CTD_human |
2 | 203 | Biomarker | C0677776 | Hereditary Breast and Ovarian Cancer Syndrome | disease | hereditary breast and ovarian cancer | 672 | BRCA1 | BRCA1 | CTD_human | 8,644,702 | Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden. | 0.462363 | Founding <span class="gene" id="8644702-0-9-14">BRCA1</span> mutations in <span class="disease" id="8644702-0-28-64">hereditary breast and ovarian cancer</span> in southern Sweden. | CTD_human;ORPHANET |
1 | 0 | Biomarker | C0007124 | Noninfiltrating Intraductal Carcinoma | disease | DCIS | 3091 | HIF1A | HIF-1alpha | CTD_human | 20,526,721 | HIF-1alpha was not expressed in benign breast tissue, whereas it was significantly expressed in DH, ADH, DCIS, and IDC (p < 0.001). | 0.202956 | <span class="gene" id="20526721-8-0-10">HIF-1alpha</span> was not expressed in benign breast tissue, whereas it was significantly expressed in DH, ADH, <span class="disease" id="20526721-8-105-109">DCIS</span>, and IDC (p < 0.001). | CTD_human |
1 | 0 | Biomarker | C0279626 | Squamous cell carcinoma of esophagus | disease | esophageal squamous cell carcinoma | 7515 | XRCC1 | X-ray repair cross-complementing 1 | CTD_human | 16,639,733 | Dietary selenium intake, aldehyde dehydrogenase-2 and X-ray repair cross-complementing 1 genetic polymorphisms, and the risk of esophageal squamous cell carcinoma. | 0.203022 | Dietary selenium intake, aldehyde dehydrogenase-2 and <span class="gene" id="16639733-0-54-88">X-ray repair cross-complementing 1</span> genetic polymorphisms, and the risk of <span class="disease" id="16639733-0-128-162">esophageal squamous cell carcinoma</span>. | CTD_human |
5 | 83 | Biomarker | C1856113 | Mowat-Wilson syndrome | disease | Mowat-Wilson syndrome | 9839 | ZEB2 | Zfhx1b | CTD_human | 17,478,475 | Neural crest-specific removal of Zfhx1b in mouse leads to a wide range of neurocristopathies reminiscent of Mowat-Wilson syndrome. | 0.489341 | Neural crest-specific removal of <span class="gene" id="17478475-0-33-39">Zfhx1b</span> in mouse leads to a wide range of neurocristopathies reminiscent of <span class="disease" id="17478475-0-108-129">Mowat-Wilson syndrome</span>. | CTD_human;UNIPROT |
null | null | Negative | MESH:D007249 | null | null | inflammation | 14824 | null | Progranulin | null | 28,011,648 | Progranulin (PGRN) restrains inflammation and is therapeutic against inflammatory arthritis; however, the underlying immunological mechanism remains unknown. | null | null | null |
1 | 1 | Biomarker | C0015625 | Fanconi Anemia | disease | FA | 2177 | FANCD2 | Fancd2 | CTD_human | 14,667,412 | Thus, Fancd2 is essential during embryogenesis to prevent inappropriate apoptosis in neural cells and other tissues undergoing high levels of proliferative expansion, implicating this mechanism in the congenital abnormalities observed in human infants with FA. | 0.450738 | Thus, <span class="gene" id="14667412-5-6-12">Fancd2</span> is essential during embryogenesis to prevent inappropriate apoptosis in neural cells and other tissues undergoing high levels of proliferative expansion, implicating this mechanism in the congenital abnormalities observed in human infants with <span class="disease" id="14667412-5-257-259">FA</span>. | CTD_human;ORPHANET |
null | null | Negative | MESH:D015658 | null | null | HIV | 5725 | null | PTB | null | 28,033,402 | The incidence rate for PTB and HIV was 0.345 per 100,000. | null | null | null |
1 | 2 | Biomarker | C0796113 | Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor | disease | Perlman syndrome | 129563 | DIS3L2 | DIS3L2 | CTD_human | 22,306,653 | Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. | 0.601374 | Germline mutations in <span class="gene" id="22306653-0-22-28">DIS3L2</span> cause the <span class="disease" id="22306653-0-39-55">Perlman syndrome</span> of overgrowth and Wilms tumor susceptibility. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D030342 | null | null | autosomal recessive multisystem disorder | 9361 | null | LONP1 | null | 28,148,925 | UNASSIGNED: Cerebral, ocular, dental, auricular, skeletal (CODAS) syndrome is a rare autosomal recessive multisystem disorder caused by mutations in LONP1. | null | null | null |
null | null | Negative | MESH:D001927 | null | null | cutaneous lesion | 100188844 | null | BPAD | null | 28,196,994 | AIM: To assess the incidence of cutaneous lesion in bipolar affective disorder (BPAD) patients on lithium therapy. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumors | 338412 | null | PS 2 | null | 28,022,538 | As of January 20, 2011, 48 pts (22 male; median age 60.5 yrs, ECOG PS 0 [N=11], PS 1 [N=36], PS 2 [N=1]) with solid tumors were enrolled. | null | null | null |
2 | 0 | Biomarker | C0022658 | Kidney Diseases | group | renal disorder | 23322 | RPGRIP1L | RPGRIP1L | CTD_human | 17,558,409 | In addition, we show that RPGRIP1L colocalizes at the basal body and centrosomes with the protein products of both NPHP6 and NPHP4, known genes associated with MKS, CORS and nephronophthisis (a related renal disorder and ciliopathy). | 0.400275 | In addition, we show that <span class="gene" id="17558409-3-26-34">RPGRIP1L</span> colocalizes at the basal body and centrosomes with the protein products of both NPHP6 and NPHP4, known genes associated with MKS, CORS and nephronophthisis (a related <span class="disease" id="17558409-3-202-216">renal disorder</span> and ciliopathy). | CTD_human;HPO |
12 | 23 | Biomarker | C1853926 | NONAKA MYOPATHY | disease | Nonaka myopathy | 10020 | GNE | UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase | CTD_human | 11,916,006 | Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). | 0.617857 | <span class="disease" id="11916006-0-0-15">Nonaka myopathy</span> is caused by mutations in the <span class="gene" id="11916006-0-46-108">UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase</span> gene (GNE). | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D058225 | null | null | amyloid deposition | 11820 | null | amyloid precursor protein | null | 28,039,950 | METHODS: Wild-type mice, in which amyloid deposition is absent, were compared to transgenic amyloid precursor protein (APP) littermates (TgSwDI) which develop age-dependent increases in amyloid. | null | null | null |
null | null | Negative | MESH:D014565 | null | null | non-urogenital system cancer | 101805488 | null | CCAT2 | null | 28,089,750 | Subgroup analysis revealed a significant association between CCAT2 and OS in urogenital system (HR=1.70, 95% CI: 1.27-2.26, p<0.003) and non-urogenital system cancer patients (HR=3.18, 95% CI: 2.09-4.83, p<0.0001). | null | null | null |
null | null | Negative | MESH:D009765 | null | null | obesity | 291905 | null | Fto | null | 28,179,100 | The fat mass and obesity associated (Fto) and iroquois homeobox 3 (Irx3) genes have been recognised as important obesity-related genes. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | cancer | 1019;1021 | null | CDK4/6 | null | 28,174,091 | Palbociclib, a selective CDK4/6 inhibitor, is now approved for the treatment of ER+/HER2- advanced breast cancer. | null | null | null |
6 | 0 | Biomarker | C0036572 | Seizures | phenotype | seizures | 5020 | OXT | Oxytocin | CTD_human | 19,397,503 | Oxytocin infusion: acute hyponatraemia, seizures and coma. | 0.2 | <span class="gene" id="19397503-0-0-8">Oxytocin</span> infusion: acute hyponatraemia, <span class="disease" id="19397503-0-40-48">seizures</span> and coma. | CTD_human |
null | null | Negative | MESH:D009410 | null | null | Neuronal loss | 12257 | null | translocator protein | null | 28,189,343 | Neuronal loss was accompanied by an increase of TREM2, IL-1b, and translocator protein (TSPO) transcript levels, [(11)C]PK11195 binding and GFAP staining (from day 2), and an early and transient increase of TNF-a, Galectin-3, and Iba-1 (from day 1). | null | null | null |
null | null | Negative | MESH:D011475 | null | null | overall survival | 55907 | null | CSS | null | 28,143,224 | Primary outcome measures were 3-year cause-specific (CSS) and overall survival (OS). | null | null | null |
1 | 0 | Biomarker | C0003873 | Rheumatoid Arthritis | disease | RA | 6772 | STAT1 | Stat1 | CTD_human | 12,833,524 | Immunohistochemistry assigned the Stat1 protein in RA synovial tissue mainly to macrophages and T lymphocytes and the p47phox protein in particular to macrophages. | 0.202747 | Immunohistochemistry assigned the <span class="gene" id="12833524-8-34-39">Stat1</span> protein in <span class="disease" id="12833524-8-51-53">RA</span> synovial tissue mainly to macrophages and T lymphocytes and the p47phox protein in particular to macrophages. | CTD_human |
1 | 0 | Biomarker | C0014859 | Esophageal Neoplasms | group | esophageal cancer | 7517 | XRCC3 | XRCC3 | CTD_human | 21,347,786 | In esophageal cancer patients, none of the polymorphisms studied had conclusive results in multivariate analysis, although XRCC3 variant (rs861539) showed an effect on survival in Kaplan-Meier univariate analysis. | 0.207496 | In <span class="disease" id="21347786-11-3-20">esophageal cancer</span> patients, none of the polymorphisms studied had conclusive results in multivariate analysis, although <span class="gene" id="21347786-11-123-128">XRCC3</span> variant (rs861539) showed an effect on survival in Kaplan-Meier univariate analysis. | CTD_human |
20 | 0 | Therapeutic | C0037769 | West Syndrome | disease | infantile spasms | 5443 | POMC | ACTH | CTD_human | 20,078,871 | Clinical profile and treatment of infantile spasms using vigabatrin and ACTH--a developing country perspective. | 0.203022 | Clinical profile and treatment of <span class="disease" id="20078871-0-34-50">infantile spasms</span> using vigabatrin and <span class="gene" id="20078871-0-72-76">ACTH</span>--a developing country perspective. | CTD_human |
4 | 3 | Biomarker | C0033860 | Psoriasis | disease | psoriasis | 51752 | ERAP1 | ERAP1 | CTD_human | 20,953,190 | A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. | 0.203571 | A genome-wide association study identifies new <span class="disease" id="20953190-0-47-56">psoriasis</span> susceptibility loci and an interaction between HLA-C and <span class="gene" id="20953190-0-114-119">ERAP1</span>. | CTD_human |
1 | 1 | Biomarker | C2239176 | Liver carcinoma | disease | HCC | 6775 | STAT4 | STAT4 | CTD_human | 23,242,368 | We also found significantly lower mRNA expression of STAT4 in HCC tumor tissues compared with paired adjacent nontumor tissues (P = 2.33 × 10(-14)). | 0.203022 | We also found significantly lower mRNA expression of <span class="gene" id="23242368-4-53-58">STAT4</span> in <span class="disease" id="23242368-4-62-65">HCC</span> tumor tissues compared with paired adjacent nontumor tissues (P = 2.33 × 10(-14)). | CTD_human |
1 | 0 | Biomarker | C0018777 | Conductive hearing loss | disease | conductive hearing loss | 2138 | EYA1 | Eya1 | CTD_human | 10,471,511 | Eya1 heterozygotes show renal abnormalities and a conductive hearing loss similar to BOR syndrome, whereas Eya1 homozygotes lack ears and kidneys due to defective inductive tissue interactions and apoptotic regression of the organ primordia. | 0.400275 | <span class="gene" id="10471511-3-0-4">Eya1</span> heterozygotes show renal abnormalities and a <span class="disease" id="10471511-3-50-73">conductive hearing loss</span> similar to BOR syndrome, whereas <span class="gene" id="10471511-3-107-111">Eya1</span> homozygotes lack ears and kidneys due to defective inductive tissue interactions and apoptotic regression of the organ primordia. | CTD_human;HPO |
5 | 11 | Biomarker | C0268631 | succinic semialdehyde dehydrogenase deficiency | disease | succinic semialdehyde dehydrogenase deficiency | 7915 | ALDH5A1 | ALDH5A1 | CTD_human | 23,825,041 | A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family. | 0.682473 | A novel <span class="gene" id="23825041-0-8-15">ALDH5A1</span> mutation is associated with <span class="disease" id="23825041-0-44-90">succinic semialdehyde dehydrogenase deficiency</span> and severe intellectual disability in an Iranian family. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D001308 | null | null | and processing speed | 10603 | null | A-PS | null | 28,083,844 | UNASSIGNED: Cognitive impairment (CI), mainly involving attention and processing speed (A-PS), is a common and disabling symptom in multiple sclerosis (MS). | null | null | null |
1 | 0 | Biomarker | C0206656 | Rhabdomyosarcoma, Embryonal | disease | embryonal rhabdomyosarcoma | 4654 | MYOD1 | MYOD1 | CTD_human | 24,793,135 | A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations. | 0.201374 | A recurrent neomorphic mutation in <span class="gene" id="24793135-0-35-40">MYOD1</span> defines a clinically aggressive subset of <span class="disease" id="24793135-0-83-109">embryonal rhabdomyosarcoma</span> associated with PI3K-AKT pathway mutations. | CTD_human |
8 | 0 | Biomarker | C0040028 | Thrombocythemia, Essential | disease | essential thrombocythemia | 3717 | JAK2 | JAK2 | CTD_human | 20,434,300 | He was diagnosed with essential thrombocythemia after he tested positive for the JAK2 V617F mutation. | 0.63264 | He was diagnosed with <span class="disease" id="20434300-5-22-47">essential thrombocythemia</span> after he tested positive for the <span class="gene" id="20434300-5-81-85">JAK2</span> V617F mutation. | CTD_human;ORPHANET |
null | null | Negative | MESH:D019446 | null | null | endotoxemia | 16175 | null | IL-1a | null | 28,145,460 | CGA-JK3 consequently interrupted IKKb-inducible NF-kB activation and NF-kB-regulated expression of TNF-a, IL-1a or HMGB-1 gene, thereby improving TLRs-associated redundant inflammatory responses in endotoxemia, polymicrobial sepsis and ALF. | null | null | null |
null | null | Negative | MESH:D005234 | null | null | steatosis | 12491 | null | fat | 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 |
1 | 0 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | NSCLC | 4609 | MYC | MYC | CTD_human | 24,688,052 | Moreover, pathway analysis and knockdown studies suggest a role for MYC transcriptional activity in the expression of these pathways in KRAS-mutant NSCLC cells. | 0.205769 | Moreover, pathway analysis and knockdown studies suggest a role for <span class="gene" id="24688052-5-68-71">MYC</span> transcriptional activity in the expression of these pathways in KRAS-mutant <span class="disease" id="24688052-5-148-153">NSCLC</span> cells. | CTD_human |
null | null | Negative | MESH:D064420 | null | null | Cytotoxicity | 5595;5594 | null | ERK1/2 | null | 28,062,356 | Cytotoxicity, ROS production, and JNK and ERK1/2 kinase signaling increased in a dose and time-dependent manner during ethanol treatments; CYP4F2 gene expression decreased, while other CYP4F forms, namely 4F11 and 12, increased along with 3A4 and 2E1 isoforms. | null | null | null |
1 | 0 | Biomarker | C1260899 | Anemia, Diamond-Blackfan | disease | Diamond-Blackfan anemia | 6218 | RPS17 | RPS17 | CTD_human | 17,647,292 | Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. | 0.407338 | <span class="gene" id="17647292-0-0-21">Ribosomal protein S17</span> gene (<span class="gene" id="17647292-0-28-33">RPS17</span>) is mutated in <span class="disease" id="17647292-0-49-72">Diamond-Blackfan anemia</span>. | CTD_human;ORPHANET |
null | null | Negative | MESH:D002318 | null | null | cardiovascular disease | 21781 | null | DP1 | null | 28,057,839 | Recent randomized clinical trials have demonstrated that addition of niacin with laropiprant [a PGD<sub>2</sub>receptor subtype 1 (DP1) blocker] to statin-based therapies does not significantly decrease the risk of cardiovascular disease events, but increases the risk of serious adverse events. | null | null | null |
3 | 0 | Biomarker | C0085261 | Proteus Syndrome | disease | Proteus syndrome | 5728 | PTEN | PTEN | CTD_human | 11,748,304 | Investigation of other clinically distinct syndromes associated with lipomatosis and overgrowth has established germline and germline mosaic PTEN mutations in several patients with Proteus syndrome. | 0.40548 | Investigation of other clinically distinct syndromes associated with lipomatosis and overgrowth has established germline and germline mosaic <span class="gene" id="11748304-4-141-145">PTEN</span> mutations in several patients with <span class="disease" id="11748304-4-181-197">Proteus syndrome</span>. | CTD_human;ORPHANET |
null | null | Negative | MESH:D017202 | null | null | ischemic heart disease | 100124433 | null | MiR-208b | null | 28,065,693 | MiR-208b was also upregulated in DCM patients, but not in heart failure patients due to ischemic heart disease or myocarditis. | null | null | null |
null | null | Negative | MESH:D018754 | null | null | ventricular myocardium | 315655 | null | RDx | null | 28,052,866 | MI was associated with an increase in fibrosis of the noninfarcted ventricular myocardium, which was attenuated by RDx. | null | null | null |
null | null | Negative | MESH:C565133 | null | null | CCL-2 | 20304 | null | CCL-5 | null | 28,127,293 | All the three viruses triggered the infected P815 cells to produce pro-inflammatory cytokines and chemokines including IL-6, IFN-y, TNF-a, CCL-2, CCL-5, and IP-10, but not the antiviral type I interferon. | null | null | null |
null | null | Negative | OMIM:168600 | null | null | PD-L2 | 9308 | null | CD83 | null | 28,052,400 | Immunohistochemical analysis was used to evaluate the expression of PD-L1, PD-L2, CD1a and CD83 in 61 CSCC tissues. | null | null | null |
1 | 0 | Biomarker | C0346255 | Oncocytoma, renal | disease | renal oncocytoma | 201163 | FLCN | folliculin | CTD_human | 12,204,536 | Discovery of disease-causing mutations in BHD, a novel kidney cancer gene associated with renal oncocytoma or chromophobe renal cancer, will contribute to understanding the role of folliculin in pathways common to skin, lung, and kidney development. | 0.200549 | Discovery of disease-causing mutations in BHD, a novel kidney cancer gene associated with <span class="disease" id="12204536-6-90-106">renal oncocytoma</span> or chromophobe renal cancer, will contribute to understanding the role of <span class="gene" id="12204536-6-181-191">folliculin</span> in pathways common to skin, lung, and kidney development. | CTD_human |
null | null | Negative | MESH:D015212 | null | null | bowel dysfunction | 51573 | null | miR-16 | null | 28,082,316 | In addition, bowel dysfunction, perceived stress and depression and number of mast cells correlated with the expression of hsa-miR-125b-5p and hsa-miR-16 and their respective target proteins. | null | null | null |
1 | 0 | Biomarker | C0243050 | Cardiovascular Abnormalities | group | cardiovascular abnormalities | 203286 | ANKS6 | ANKS6 | CTD_human | 23,793,029 | We also identify six families with ANKS6 mutations affected by nephronophthisis, including severe cardiovascular abnormalities, liver fibrosis and situs inversus. | 0.2 | We also identify six families with <span class="gene" id="23793029-5-35-40">ANKS6</span> mutations affected by nephronophthisis, including severe <span class="disease" id="23793029-5-98-126">cardiovascular abnormalities</span>, liver fibrosis and situs inversus. | CTD_human |
1 | 0 | Biomarker | C0033774 | Pruritus | phenotype | pruritus | 3269 | HRH1 | histamine H1 receptor | CTD_human | 19,652,466 | We have also investigated the effect of histamine H4 receptor antagonists on histamine H1 receptor antagonist-resistant pruritus using a mouse model. | 0.2 | We have also investigated the effect of histamine H4 receptor antagonists on <span class="gene" id="19652466-5-77-98">histamine H1 receptor</span> antagonist-resistant <span class="disease" id="19652466-5-120-128">pruritus</span> using a mouse model. | CTD_human |
2 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | HCC | 1869 | E2F1 | E2f1 | CTD_human | 15,565,109 | Gene expression patterns in HCCs from Myc, E2f1 and Myc E2f1 transgenic mice were most similar to those of the better survival group of human HCCs, whereas the expression patterns in HCCs from Myc Tgfa transgenic mice and in diethylnitrosamine-induced mouse HCCs were most similar to those of the poorer survival group of human HCCs. | 0.207418 | Gene expression patterns in <span class="disease" id="15565109-5-28-31">HCC</span>s from Myc, <span class="gene" id="15565109-5-43-47">E2f1</span> and Myc <span class="gene" id="15565109-5-56-60">E2f1</span> transgenic mice were most similar to those of the better survival group of human <span class="disease" id="15565109-5-142-145">HCC</span>s, whereas the expression patterns in <span class="disease" id="15565109-5-183-186">HCC</span>s from Myc Tgfa transgenic mice and in diethylnitrosamine-induced mouse <span class="disease" id="15565109-5-258-261">HCC</span>s were most similar to those of the poorer survival group of human <span class="disease" id="15565109-5-328-331">HCC</span>s. | CTD_human |
null | null | Negative | MESH:D012183 | null | null | TGN | 3726 | null | AP1 | null | 28,000,370 | Arl5b is physically associated with AP4 and is required for the recruitment of AP4, but not AP1, to the TGN. | null | null | null |
2 | 0 | Biomarker | C0024121 | Lung Neoplasms | group | lung tumors | 6441 | SFTPD | surfactant protein D | CTD_human | 14,522,914 | Serum levels of surfactant protein D are increased in mice with lung tumors. | 0.205466 | Serum levels of <span class="gene" id="14522914-0-16-36">surfactant protein D</span> are increased in mice with <span class="disease" id="14522914-0-64-75">lung tumors</span>. | CTD_human |
2 | 0 | Biomarker | C0001430 | Adenoma | group | adenomas | 596 | BCL2 | bcl-2 | CTD_human | 10,426,811 | Collectively, only 8% of preneoplastic foci, 3% of adenomas and 1.5% of carcinomas did not express either bcl-2 or bcl-X(L). | 0.207143 | Collectively, only 8% of preneoplastic foci, 3% of <span class="disease" id="10426811-10-51-59">adenomas</span> and 1.5% of carcinomas did not express either <span class="gene" id="10426811-10-106-111">bcl-2</span> or bcl-X(L). | CTD_human |
null | null | Negative | MESH:D009103 | null | null | MS | 55079 | null | MALDI-TOF | null | 28,146,195 | The use of MALDI-TOF MS as a rapid and specific method for the microbiological diagnosis is discussed in the following report. | null | null | null |
1 | 0 | Biomarker | C0085183 | Neoplasms, Second Primary | phenotype | second malignancy | 5883 | RAD9A | RAD9A | CTD_human | 21,991,345 | Collectively, our results support the idea that modulation of RAD9A and other cell cycle arrest and DNA repair proteins contribute to the risk of developing a second malignancy in childhood cancer patients. | 0.200275 | Collectively, our results support the idea that modulation of <span class="gene" id="21991345-9-62-67">RAD9A</span> and other cell cycle arrest and DNA repair proteins contribute to the risk of developing a <span class="disease" id="21991345-9-159-176">second malignancy</span> in childhood cancer patients. | CTD_human |
null | null | Negative | MESH:D016510 | null | null | angiogenesis | 7040;7422 | null | TGF-Beta Signalling and VEGF | null | 28,028,298 | Analysis on the microRNA target genes revealed that most genes targeted by miR-19b and miR-20a involve in TGF-Beta Signalling and VEGF, hypoxia and angiogenesis pathways. | null | null | null |
null | null | Negative | MESH:D006331 | null | null | cardiac fibrosis | 18024 | null | NFE2L2 | null | 28,132,522 | Preserving the NFE2L2 activity arrested the mitochondrial and cardiac oxidative stress, cardiac fibrosis, and heart failure in Chagas disease. | null | null | null |
null | null | Negative | MESH:D014202 | null | null | IS | 397061 | null | haptoglobin | null | 28,149,513 | The IS pigs slept the most and displayed less manipulative behaviours on the day of weaning and plasma haptoglobin levels remained low in IS pigs after weaning (P <= 0.01). | null | null | null |
29 | 28 | Biomarker | C0018553 | Hamartoma Syndrome, Multiple | disease | Cowden syndrome | 5728 | PTEN | PTEN | CTD_human | 11,496,368 | PTEN mutation in a family with Cowden syndrome and autism. | 0.767443 | <span class="gene" id="11496368-0-0-4">PTEN</span> mutation in a family with <span class="disease" id="11496368-0-31-46">Cowden syndrome</span> and autism. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C0027627 | Neoplasm Metastasis | phenotype | metastasis | 10855 | HPSE | HPA | CTD_human | 22,240,343 | Thus, we conclude that the combination of an anti-HPA antibody and a CTL response in HPA-immunization gene therapy is enough to attenuate tumor growth and metastasis. | 0.268741 | Thus, we conclude that the combination of an anti-<span class="gene" id="22240343-9-50-53">HPA</span> antibody and a CTL response in <span class="gene" id="22240343-9-85-88">HPA</span>-immunization gene therapy is enough to attenuate tumor growth and <span class="disease" id="22240343-9-155-165">metastasis</span>. | CTD_human |
null | null | Negative | OMIM:143470 | null | null | hydrogen atom transfer | 29943 | null | PDI | null | 28,191,974 | Energetic consideration with the aid of theoretical calculations suggests that the underlying photophysics most probably involves hydrogen atom transfer (HAT) between the DMP-PDI guest and y-CD host via higher excited (n, *) triplet states. | null | null | null |
20 | 0 | Biomarker | C0037769 | West Syndrome | disease | infantile spasm | 5443 | POMC | ACTH | CTD_human | 6,107,850 | [Lethal side effects from ACTH-therapy in infantile spasm (author's transl)]. | 0.203022 | [Lethal side effects from <span class="gene" id="6107850-0-26-30">ACTH</span>-therapy in <span class="disease" id="6107850-0-42-57">infantile spasm</span> (author's transl)]. | CTD_human |
27 | 1 | Biomarker | C0030567 | Parkinson Disease | disease | Parkinson disease | 6622 | SNCA | alpha-synuclein | CTD_human | 15,099,020 | Mutation A30P in the alpha-synuclein gene is a cause of familial Parkinson disease. | 0.44 | Mutation A30P in the <span class="gene" id="15099020-1-21-36">alpha-synuclein</span> gene is a cause of familial <span class="disease" id="15099020-1-65-82">Parkinson disease</span>. | CTD_human |
null | null | Negative | MESH:D046728 | null | null | atomic force microscope | 1000 | null | N-cadherin | null | 28,008,617 | Application of pulling force ( 1 nN) to the N-cadherin-coated beads via an atomic force microscope induced a localized mechanical response from the VSMCs that opposed the pulling. | null | null | null |
null | null | Negative | MESH:D043183 | null | null | bowel obstruction | 5792 | null | LAR | null | 28,016,806 | METHODS: The objectives of this trial are to assess efficacy and toxicities of LAR in ovarian cancer pts with chronic or intermittent bowel obstruction. | null | null | null |
null | null | Negative | MESH:D018205 | null | null | WAT | 24494 | null | IL-1b | null | 28,077,915 | In control rats, a 24 h fast reduced all measured basal cytokines in plasma and visceral WAT, IL-1b and IL-6 in subcutaneous WAT, and IL-6 in intraperitoneal WAT. | null | null | null |
null | null | Negative | MESH:D006623 | null | null | VHL | 5155 | null | PDGFb | null | 28,143,107 | The gene probes chosen for this analysis were; VHL, FHIT, FGFR1/3, PDGFb, PDGFRb, EGFR, MYC and IGH@. | null | null | null |
3 | 1 | Biomarker | C0001418 | Adenocarcinoma | group | adenocarcinoma | 7157 | TP53 | p53 | CTD_human | 10,797,276 | In adenocarcinoma, p53 mutation, in addition to stage, emerged as a significant predictor of poor cancer-related survival. | 0.471775 | In <span class="disease" id="10797276-9-3-17">adenocarcinoma</span>, <span class="gene" id="10797276-9-19-22">p53</span> mutation, in addition to stage, emerged as a significant predictor of poor cancer-related survival. | CTD_human |
20 | 0 | Therapeutic | C0037769 | West Syndrome | disease | infantile spasms | 5443 | POMC | adrenocorticotropic hormone | CTD_human | 1,656,808 | The seizures occurred following the suppression of infantile spasms with adrenocorticotropic hormone therapy and disappeared following the cessation of clonazepam administration. | 0.203022 | The seizures occurred following the suppression of <span class="disease" id="1656808-2-51-67">infantile spasms</span> with <span class="gene" id="1656808-2-73-100">adrenocorticotropic hormone</span> therapy and disappeared following the cessation of clonazepam administration. | CTD_human |
1 | 0 | Therapeutic | C0014556 | Epilepsy, Temporal Lobe | disease | TLE | 1268 | CNR1 | CB1R | CTD_human | 20,498,848 | These findings indicate that activation of CB1R present on nerve terminals can suppress recurrent excitation in the dentate gyrus of mice with TLE. | 0.2 | These findings indicate that activation of <span class="gene" id="20498848-10-43-47">CB1R</span> present on nerve terminals can suppress recurrent excitation in the dentate gyrus of mice with <span class="disease" id="20498848-10-143-146">TLE</span>. | CTD_human |
null | null | Negative | MESH:D064420 | null | null | toxicities | 963084 | null | CPT-11 | null | 28,213,683 | CONCLUSIONS: Administration of CPT-11 plus BV to patients with mCRC achieved comparable efficacies with relatively lower toxicities compared with the results of previous studies using FOLFIRI plus BV as second-line therapy. | null | null | null |
null | null | Negative | MESH:D020388 | null | null | Duchenne muscular dystrophy | 13405 | null | Dp427 | null | 28,161,362 | Duchenne muscular dystrophy (DMD) is a lethal disease, determined by lack of dystrophin (Dp427), a muscular cytoskeletal protein also expressed by selected neuronal populations. | null | null | null |
2 | 0 | Biomarker | C0038220 | Status Epilepticus | disease | status epilepticus | 2668 | GDNF | GDNF | CTD_human | 7,854,063 | Glial cell-line derived neurotrophic factor (GDNF) mRNA upregulation in striatum and cortical areas after pilocarpine-induced status epilepticus in rats. | 0.2 | <span class="gene" id="7854063-0-0-43">Glial cell-line derived neurotrophic factor</span> (<span class="gene" id="7854063-0-45-49">GDNF</span>) mRNA upregulation in striatum and cortical areas after pilocarpine-induced <span class="disease" id="7854063-0-126-144">status epilepticus</span> in rats. | CTD_human |
1 | 0 | Biomarker | C0025202 | melanoma | disease | malignant melanoma | 340273 | ABCB5 | ABCB5 | CTD_human | 15,899,824 | ABCB5-mediated doxorubicin transport and chemoresistance in human malignant melanoma. | 0.213144 | <span class="gene" id="15899824-0-0-5">ABCB5</span>-mediated doxorubicin transport and chemoresistance in human <span class="disease" id="15899824-0-66-84">malignant melanoma</span>. | CTD_human |
null | null | Negative | MESH:D017096 | null | null | prion diseases | 19122 | null | prion protein | null | 28,178,353 | UNASSIGNED: Misfolding of the cellular prion protein (PrPC) into the scrapie prion protein (PrPSc) results in progressive, fatal, transmissible neurodegenerative conditions termed prion diseases. | null | null | null |
null | null | Negative | MESH:D065666 | null | null | AMI | 65029 | null | diamine oxidase | null | 28,156,218 | The aim of this study was to measure the plasma levels of diamine oxidase (DAO) and citrulline in AMI to gain insight into its early diagnosis. | null | null | null |