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2 | 0 | Biomarker | C0004096 | Asthma | disease | asthma | 2944 | GSTM1 | GSTM1 | CTD_human | 18,988,661 | Glutathione-S-transferase (GST) P1, GSTM1, exercise, ozone and asthma incidence in school children. | 0.314207 | Glutathione-S-transferase (GST) P1, <span class="gene" id="18988661-0-36-41">GSTM1</span>, exercise, ozone and <span class="disease" id="18988661-0-63-69">asthma</span> incidence in school children. | CTD_human |
20 | 0 | Biomarker | C0023487 | Acute Promyelocytic Leukemia | disease | acute promyelocytic leukemia | 5371 | PML | PML | CTD_human | 14,706,140 | [Improved RT-PCR for detection of PML/RARalpha fusion gene in rapid diagnosis of acute promyelocytic leukemia]. | 0.507329 | [Improved RT-PCR for detection of <span class="gene" id="14706140-0-34-37">PML</span>/RARalpha fusion gene in rapid diagnosis of <span class="disease" id="14706140-0-81-109">acute promyelocytic leukemia</span>]. | CTD_human;ORPHANET |
2 | 0 | Biomarker | C0007131 | Non-Small Cell Lung Carcinoma | disease | non-small cell lung cancer | 4193 | MDM2 | MDM2 | CTD_human | 21,268,124 | MDM2 SNP309 contributes to non-small cell lung cancer survival in Chinese. | 0.208517 | <span class="gene" id="21268124-0-0-4">MDM2</span> SNP309 contributes to <span class="disease" id="21268124-0-27-53">non-small cell lung cancer</span> survival in Chinese. | CTD_human |
3 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 3690 | ITGB3 | ITGB3 | CTD_human | 16,724,005 | Variation in ITGB3 is associated with whole-blood serotonin level and autism susceptibility. | 0.217017 | Variation in <span class="gene" id="16724005-0-13-18">ITGB3</span> is associated with whole-blood serotonin level and <span class="disease" id="16724005-0-70-76">autism</span> susceptibility. | CTD_human |
1 | 0 | Biomarker | C0003873 | Rheumatoid Arthritis | disease | RA | 6355 | CCL8 | CCL8 | CTD_human | 17,568,789 | HOXD10, HOXD11, HOXD13, CCL8 and LIM homeobox 2 were highly and exclusively expressed in RA and CLU, sarcoglycan-gamma, GPR64, POU3F3, peroxisome proliferative activated receptor-gamma and tripartite motif-containing 2 were expressed only in OA. | 0.200275 | HOXD10, HOXD11, HOXD13, <span class="gene" id="17568789-4-24-28">CCL8</span> and LIM homeobox 2 were highly and exclusively expressed in <span class="disease" id="17568789-4-89-91">RA</span> and CLU, sarcoglycan-gamma, GPR64, POU3F3, peroxisome proliferative activated receptor-gamma and tripartite motif-containing 2 were expressed only in OA. | CTD_human |
null | null | Negative | MESH:D009336 | null | null | necrosis | 24498 | null | interleukin-6 | null | 28,092,336 | Compared with the control group, the experimental group showed more proinflammatory cytokines: interleukin-1b, interleukin-6, tumor necrosis factor-a, and macrophage migration inhibitory factor. | null | null | null |
null | null | Negative | MESH:D030342 | null | null | autosomal dominant disease | 672 | null | BRCA1 | null | 28,184,945 | Hereditary breast and ovarian cancer syndrome is an autosomal dominant disease caused primarily by germline mutations in the BRCA1 or BRCA2 gene. | null | null | null |
null | null | Negative | MESH:D006967 | null | null | allergy | 59086 | null | TGF-b | null | 28,049,206 | CONCLUSIONS: The prebiotic action of GMP on allergy-protective microbiota, an increase in TGF-b production, and a reduction in mast cell response to allergens are novel mechanisms that explain the antiallergic activity of GMP. | null | null | null |
null | null | Negative | MESH:D016510 | null | null | angiogenesis | 4360 | null | CD206 | null | 28,032,600 | Interestingly, GM1-stimulated macrophages secreted monocyte chemoattractant protein-1 (MCP-1/CCL2) through a CD206/yc/STAT6-mediated signaling pathway and induced angiogenesis. | null | null | null |
51 | 124 | Biomarker | C1142166 | Brugada Syndrome (disorder) | disease | Brugada syndrome | 6331 | SCN5A | SCN5A | CTD_human | 16,239,976 | A novel nonsense mutation in the SCN5A gene leads to Brugada syndrome and a silent gene mutation carrier state. | 0.843536 | A novel nonsense mutation in the <span class="gene" id="16239976-0-33-38">SCN5A</span> gene leads to <span class="disease" id="16239976-0-53-69">Brugada syndrome</span> and a silent gene mutation carrier state. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Therapeutic | C0036323 | Schistosomiasis | disease | schistosomiasis | 5052 | PRDX1 | Prx-1 | CTD_human | 19,041,905 | These findings suggest that Prx-1 may become a novel target of drugs and vaccines for schistosomiasis. | 0.2 | These findings suggest that <span class="gene" id="19041905-10-28-33">Prx-1</span> may become a novel target of drugs and vaccines for <span class="disease" id="19041905-10-86-101">schistosomiasis</span>. | CTD_human |
2 | 7 | Biomarker | C0238198 | Gastrointestinal Stromal Tumors | group | GIST | 5156 | PDGFRA | PDGFRA | CTD_human | 20,028,860 | Gastrointestinal stromal tumors (GIST) are caused by activating mutations in the KIT or PDGFRA receptor tyrosine kinase genes. | 0.73862 | <span class="disease" id="20028860-1-0-31">Gastrointestinal stromal tumors</span> (<span class="disease" id="20028860-1-33-37">GIST</span>) are caused by activating mutations in the KIT or <span class="gene" id="20028860-1-88-94">PDGFRA</span> receptor tyrosine kinase genes. | CTD_human;HPO;ORPHANET;UNIPROT |
3 | 0 | Therapeutic | C0036572 | Seizures | phenotype | seizure | 3350 | HTR1A | 5-HT 1A | CTD_human | 16,313,900 | Stimulation of 5-HT 1A receptors increases the seizure threshold for picrotoxin in mice. | 0.2 | Stimulation of <span class="gene" id="16313900-0-15-22">5-HT 1A</span> receptors increases the <span class="disease" id="16313900-0-47-54">seizure</span> threshold for picrotoxin in mice. | CTD_human |
1 | 0 | Biomarker | C0007137 | Squamous cell carcinoma | disease | SCC | 2944 | GSTM1 | GSTM1 | CTD_human | 22,072,123 | Moreover, a significant increase in the risk to SCC of lung in the cases carrying combination of variant genotype of CYP1A2 with either CYP1A1 or GSTM1 have shown that gene-gene interactions may play an important role in squamous cell lung cancer risk. | 0.305478 | Moreover, a significant increase in the risk to <span class="disease" id="22072123-6-48-51">SCC</span> of lung in the cases carrying combination of variant genotype of CYP1A2 with either CYP1A1 or <span class="gene" id="22072123-6-146-151">GSTM1</span> have shown that gene-gene interactions may play an important role in squamous cell lung cancer risk. | CTD_human |
null | null | Negative | MESH:D017887 | null | null | ossification of the posterior longitudinal ligament | 7933 | null | OPLL | null | 28,053,773 | INTRODUCTION: We report a case of acute tetraplegia, without any trauma or symptoms prior to onset, who presented with ossification of the posterior longitudinal ligament (OPLL) in the cervical spine with concomitant spinal cord infarction. | null | null | null |
null | null | Negative | MESH:D003072 | null | null | deficiency in OBs impairs | 228357 | null | Lrp4 | null | 28,193,701 | However, it is unclear how Lrp4 deficiency in OBs impairs osteoclastogenesis. | null | null | null |
1 | 0 | Biomarker | C0085605 | Liver Failure | disease | hepatic failure | 2147 | F2 | prothrombin | CTD_human | 18,618,250 | Patients (n = 47) with reactivated hepatitis due to lamivudine-resistant HBV were classified into two groups, with and without potential for progression to hepatic failure, according to the criteria using the data of serum bilirubin level and prothrombin activity after the reactivated hepatitis. | 0.200549 | Patients (n = 47) with reactivated hepatitis due to lamivudine-resistant HBV were classified into two groups, with and without potential for progression to <span class="disease" id="18618250-2-156-171">hepatic failure</span>, according to the criteria using the data of serum bilirubin level and <span class="gene" id="18618250-2-243-254">prothrombin</span> activity after the reactivated hepatitis. | CTD_human |
null | null | Negative | MESH:D056005 | null | null | indeterminate | 4318 | null | MMP-9 | null | 28,118,356 | We evaluated by flow cytometry the expression of MMP-2, MMP-9, IL-1b, TNF-a, TGF-b and IL-10 by neutrophils and monocytes from patients with indeterminate (IND) and cardiac (CARD) clinical forms of Chagas disease and non-infected individuals (NI), before and after in vitro stimulation with Trypanosoma cruzi antigens. | null | null | null |
12 | 8 | Biomarker | C0795864 | Smith-Magenis syndrome | disease | SMS | 10743 | RAI1 | RAI1 | CTD_human | 16,845,274 | Although RAI1 is the primary gene responsible for most features of SMS, other genes within 17p11.2 contribute to the variable features and overall severity of the syndrome. | 0.48989 | Although <span class="gene" id="16845274-8-9-13">RAI1</span> is the primary gene responsible for most features of <span class="disease" id="16845274-8-67-70">SMS</span>, other genes within 17p11.2 contribute to the variable features and overall severity of the syndrome. | CTD_human;ORPHANET |
6 | 0 | Biomarker | C0004153 | Atherosclerosis | disease | atherosclerosis | 5444 | PON1 | PON1 | CTD_human | 16,229,851 | The abnormal serum PON1 distribution in diabetic patients, could be responsible for the accelerated atherosclerosis development in these patients. | 0.286433 | The abnormal serum <span class="gene" id="16229851-9-19-23">PON1</span> distribution in diabetic patients, could be responsible for the accelerated <span class="disease" id="16229851-9-100-115">atherosclerosis</span> development in these patients. | CTD_human |
null | null | Negative | MESH:D014947 | null | null | hepatobiliary injury | 83567 | null | MCHR1 | null | 28,025,230 | In conclusion, hepatobiliary injury by thienopyrimidinone MCHR1 antagonists was driven through a CYP-mediated bioactivation pathway. | null | null | null |
1 | 0 | Biomarker | C0024299 | Lymphoma | group | lymphomas | 1030 | CDKN2B | p15INK4b | CTD_human | 9,488,045 | Inactivations of p16INK4a-alpha, p16INK4a-beta and p15INK4b genes in 2',3'-dideoxycytidine- and 1,3-butadiene-induced murine lymphomas. | 0.205154 | Inactivations of p16INK4a-alpha, p16INK4a-beta and <span class="gene" id="9488045-0-51-59">p15INK4b</span> genes in 2',3'-dideoxycytidine- and 1,3-butadiene-induced murine <span class="disease" id="9488045-0-125-134">lymphomas</span>. | CTD_human |
1 | 0 | Biomarker | C0001418 | Adenocarcinoma | group | adenocarcinomas | 8289 | ARID1A | ARID1A | CTD_human | 22,484,628 | Frequently mutated genes in the adenocarcinomas included TP53 (11/15 tumors), PIK3CA (3/15) and ARID1A (3/15). | 0.203557 | Frequently mutated genes in the <span class="disease" id="22484628-3-32-47">adenocarcinomas</span> included TP53 (11/15 tumors), PIK3CA (3/15) and <span class="gene" id="22484628-3-96-102">ARID1A</span> (3/15). | CTD_human |
2 | 0 | Biomarker | C1832200 | Peroxisome biogenesis disorders | group | peroxisome biogenesis disorders | 9409 | PEX16 | PEX16 | CTD_human | 11,890,679 | A nonsense mutation (R176ter) in the PEX16 gene has been reported in the case of only one patient (D-01) belonging to complementation group D of the peroxisome biogenesis disorders. | 0.200549 | A nonsense mutation (R176ter) in the <span class="gene" id="11890679-2-37-42">PEX16</span> gene has been reported in the case of only one patient (D-01) belonging to complementation group D of the <span class="disease" id="11890679-2-149-180">peroxisome biogenesis disorders</span>. | CTD_human |
null | null | Negative | MESH:D001847 | null | null | bone-destruction | 16171 | null | IL-17 | null | 28,044,086 | Histological analysis showed that phloretin suppressed the severity of RA and effectively mitigated joint inflammation and cartilage- and bone-destruction via reducing proinflammatory cytokine productions (TNF-a, IL-6, IL-1b, and IL-17). | null | null | null |
24 | 14 | Biomarker | C0338451 | Frontotemporal dementia | disease | frontotemporal dementia | 4137 | MAPT | tau | CTD_human | 10,802,785 | Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene. | 0.701663 | Two brothers with <span class="disease" id="10802785-0-18-41">frontotemporal dementia</span> and parkinsonism with an N279K mutation of the <span class="gene" id="10802785-0-89-92">tau</span> gene. | CTD_human;HPO;UNIPROT |
null | null | Negative | MESH:D003924 | null | null | type 2 diabetes mellitus | 14652 | null | glucagon-like peptide-1 receptor | null | 28,138,003 | UNASSIGNED: Liraglutide is the glucagon-like peptide-1 receptor agonist widely used for the treatment of type 2 diabetes mellitus. | null | null | null |
2 | 0 | Biomarker | C0033578 | Prostatic Neoplasms | group | prostate tumor | 4804 | NGFR | p75NTR | CTD_human | 17,409,433 | The aryl propionic acid R-flurbiprofen selectively induces p75NTR-dependent decreased survival of prostate tumor cells. | 0.200824 | The aryl propionic acid R-flurbiprofen selectively induces <span class="gene" id="17409433-0-59-65">p75NTR</span>-dependent decreased survival of <span class="disease" id="17409433-0-98-112">prostate tumor</span> cells. | CTD_human |
2 | 0 | Biomarker | C0005695 | Bladder Neoplasm | disease | bladder cancer | 2944 | GSTM1 | GSTM1 | CTD_human | 18,505,952 | When the OR used to determine statistical power was lowered to 1.2, 2 of the 4 noteworthy associations remained so: GSTM1 null with bladder cancer and acute leukemia. | 0.258298 | When the OR used to determine statistical power was lowered to 1.2, 2 of the 4 noteworthy associations remained so: <span class="gene" id="18505952-11-116-121">GSTM1</span> null with <span class="disease" id="18505952-11-132-146">bladder cancer</span> and acute leukemia. | CTD_human |
null | null | Negative | MESH:D010146 | null | null | pain-induced depression | 12257 | null | TSPO | null | 28,108,322 | However, the role of TSPO in SCI-pain and pain-induced depression remains unknown. | null | null | null |
null | null | Negative | MESH:D001714 | null | null | bipolar affective disorder | 100126593 | null | BPAD | null | 28,155,203 | BACKGROUND: Despite the use of maintenance medication, recurrence rates in bipolar affective disorder (BPAD) are high. | null | null | null |
null | null | Negative | MESH:D012170 | null | null | retinal vein occlusion | 5171 | null | PDR | null | 28,074,184 | Vitreous fluid was similarly collected from patients with macular hole (MH), epiretinal membrane, proliferative diabetic retinopathy (PDR), and retinal vein occlusion as controls. | null | null | null |
40 | 0 | Therapeutic | C1458155 | Mammary Neoplasms | group | breast tumors | 2064 | ERBB2 | ERBB2 | CTD_human | 19,075,277 | mRNA levels of 10 BCAR genes (AKT1, AKT2, BCAR1, BCAR3, EGFR, ERBB2, GRB7, SRC, TLE3, and TRERF1) were measured in estrogen receptor-positive breast tumors using quantitative reverse-transcriptase polymerase chain reaction. | 0.369628 | mRNA levels of 10 BCAR genes (AKT1, AKT2, BCAR1, BCAR3, EGFR, <span class="gene" id="19075277-3-62-67">ERBB2</span>, GRB7, SRC, TLE3, and TRERF1) were measured in estrogen receptor-positive <span class="disease" id="19075277-3-142-155">breast tumors</span> using quantitative reverse-transcriptase polymerase chain reaction. | CTD_human |
null | null | Negative | MESH:D007003 | null | null | hypoglycemia | 105613195 | null | insulin | null | 28,200,173 | Placental insufficiency and intrauterine growth restriction (IUGR) are common obstetrical complications associated with fetal hypoglycemia and hypoxia that reduce the b-cell mass and insulin secretion. | null | null | null |
1 | 0 | Biomarker | C0020981 | Angioimmunoblastic Lymphadenopathy | disease | AITL | 3418 | IDH2 | IDH2 | CTD_human | 24,413,737 | Although frequent mutations in TET2, IDH2 and DNMT3A, which are common to various hematologic malignancies, have been identified in AITL, the molecular pathogenesis specific to this lymphoma subtype is unknown. | 0.202198 | Although frequent mutations in TET2, <span class="gene" id="24413737-2-37-41">IDH2</span> and DNMT3A, which are common to various hematologic malignancies, have been identified in <span class="disease" id="24413737-2-132-136">AITL</span>, the molecular pathogenesis specific to this lymphoma subtype is unknown. | CTD_human |
1 | 0 | Biomarker | C0028754 | Obesity | disease | obesity | 7351 | UCP2 | UCP2 | CTD_human | 11,381,268 | A common polymorphism in the promoter of UCP2 is associated with decreased risk of obesity in middle-aged humans. | 0.306923 | A common polymorphism in the promoter of <span class="gene" id="11381268-0-41-45">UCP2</span> is associated with decreased risk of <span class="disease" id="11381268-0-83-90">obesity</span> in middle-aged humans. | CTD_human |
1 | 0 | Biomarker | C0948089 | Acute Coronary Syndrome | disease | Acute Coronary Syndrome | 5444 | PON1 | PON1 | CTD_human | 26,241,956 | Association between Paraoxonase 1 (PON1) Polymorphisms and the Risk of Acute Coronary Syndrome in a North African Population. | 0.208869 | Association between <span class="gene" id="26241956-0-20-33">Paraoxonase 1</span> (<span class="gene" id="26241956-0-35-39">PON1</span>) Polymorphisms and the Risk of <span class="disease" id="26241956-0-71-94">Acute Coronary Syndrome</span> in a North African Population. | CTD_human |
9 | 0 | Biomarker | C0020429 | Hyperalgesia | phenotype | hyperalgesia | 6863 | TAC1 | substance P | CTD_human | 19,231,294 | In contrast, intrathecal substance P 100 nmol produced hyperalgesia, and intrathecal DAMGO 10 nmol produced antinociception. | 0.2 | In contrast, intrathecal <span class="gene" id="19231294-6-25-36">substance P</span> 100 nmol produced <span class="disease" id="19231294-6-55-67">hyperalgesia</span>, and intrathecal DAMGO 10 nmol produced antinociception. | CTD_human |
1 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | hepatocellular carcinoma | 83597 | RTP3 | TMEM7 | CTD_human | 17,693,185 | The interferon-alpha responsive gene TMEM7 suppresses cell proliferation and is downregulated in human hepatocellular carcinoma. | 0.203008 | The interferon-alpha responsive gene <span class="gene" id="17693185-0-37-42">TMEM7</span> suppresses cell proliferation and is downregulated in human <span class="disease" id="17693185-0-103-127">hepatocellular carcinoma</span>. | CTD_human |
null | null | Negative | MESH:D030342 | null | null | erythropoietic disorders | 71876 | null | Myelodysplasia/myeloid leukemia factor 1-interacting protein | null | 28,173,615 | Myelodysplasia/myeloid leukemia factor 1-interacting protein (MLF1IP) appears to be an erythroid lineage-specific gene in mice; however, its role in normal erythropoiesis and erythropoietic disorders have not yet been elucidated. | null | null | null |
69 | 0 | Therapeutic | C0020538 | Hypertensive disease | group | hypertension | 183 | AGT | angiotensin II | CTD_human | 9,024,144 | Role of superoxide in angiotensin II-induced but not catecholamine-induced hypertension. | 0.52 | Role of superoxide in <span class="gene" id="9024144-0-22-36">angiotensin II</span>-induced but not catecholamine-induced <span class="disease" id="9024144-0-75-87">hypertension</span>. | CTD_human |
1 | 0 | Biomarker | C0018801 | Heart failure | disease | heart failure | 2194 | FASN | FASN | CTD_human | 26,670,611 | The development of disturbed substrate utilization of FASN transgenic cardiomyocytes and signs of heart failure were retarded by the transgenic expression of GRKInh, a peptide inhibitor of GRK2. | 0.2 | The development of disturbed substrate utilization of <span class="gene" id="26670611-6-54-58">FASN</span> transgenic cardiomyocytes and signs of <span class="disease" id="26670611-6-98-111">heart failure</span> were retarded by the transgenic expression of GRKInh, a peptide inhibitor of GRK2. | CTD_human |
3 | 0 | Biomarker | C0004364 | Autoimmune Diseases | group | autoimmunity | 3565 | IL4 | IL-4 | CTD_human | 19,077,085 | Therefore, the attenuated autoimmunity following loss of IL-4 and IL-6 is dose-dependent, as higher doses of Hg are able to override the attenuation observed using lower doses. | 0.209 | Therefore, the attenuated <span class="disease" id="19077085-7-26-38">autoimmunity</span> following loss of <span class="gene" id="19077085-7-57-61">IL-4</span> and IL-6 is dose-dependent, as higher doses of Hg are able to override the attenuation observed using lower doses. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumor | 24498 | null | interleukin (IL)-6 | null | 28,077,129 | Body weight, food consumption, blood (serum) levels of glucose, C peptide, Hb A1C, insulin, tumor necrosis factor (TNF)-a and interleukin (IL)-6 were determined for all groups. | null | null | null |
null | null | Negative | MESH:D007680 | null | null | renal (PCDHA), and lung (PCDHA) cancers | 56115 | null | PCDHG | null | 28,142,416 | Other deleterious genomic changes in the PCDH locus were identified in ovarian (PCDHG), renal (PCDHA), and lung (PCDHA) cancers. | null | null | null |
null | null | Negative | MESH:D001749 | null | null | bladder cancer | 19205 | null | PTBP1 | null | 28,106,737 | This combination treatment could be a novel RNA-interference strategy through the systemic silencing of the Warburg effect-promoting driver oncogene PTBP1 in bladder cancer cells. | null | null | null |
4 | 2 | Biomarker | C0003873 | Rheumatoid Arthritis | disease | rheumatoid arthritis | 7128 | TNFAIP3 | TNFAIP3 | CTD_human | 21,841,782 | A20 (TNFAIP3) deficiency in myeloid cells triggers erosive polyarthritis resembling rheumatoid arthritis. | 0.242974 | A20 (<span class="gene" id="21841782-0-5-12">TNFAIP3</span>) deficiency in myeloid cells triggers erosive polyarthritis resembling <span class="disease" id="21841782-0-84-104">rheumatoid arthritis</span>. | CTD_human |
17 | 15 | Biomarker | C0265216 | X-linked hydrocephalus syndrome | disease | X-linked hydrocephalus | 3897 | L1CAM | L1CAM | CTD_human | 7,920,660 | Since it has been shown that X-linked hydrocephalus can be caused by mutations in L1CAM, a neuronal cell adhesion molecule, we performed an L1CAM mutation analysis in eight unrelated patients with MASA syndrome. | 0.612088 | Since it has been shown that <span class="disease" id="7920660-2-29-51">X-linked hydrocephalus</span> can be caused by mutations in <span class="gene" id="7920660-2-82-87">L1CAM</span>, a neuronal cell adhesion molecule, we performed an <span class="gene" id="7920660-2-140-145">L1CAM</span> mutation analysis in eight unrelated patients with MASA syndrome. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D017827 | null | null | spinocerebellar ataxia type-5 | 6712 | null | SCA5 | null | 28,173,092 | Clinical phenotypes of spinocerebellar ataxia type-5 (SCA5) and spectrin-associated autosomal recessive cerebellar ataxia type-1 (SPARCA1) are mirrored in mice lacking b-III spectrin (b-III-/-). | null | null | null |
null | null | Negative | MESH:D053448 | null | null | prostate specific antigen | 8000 | null | PSCA | null | 28,023,416 | UNASSIGNED: 4535 Background: CV9103 is a prostate cancer (PCA) vaccine that contains the four antigens PSA (prostate specific antigen), PSCA, PSMA and STEAP1 as self-adjuvanted full-length mRNAs. | null | null | null |
1 | 0 | Biomarker | C0206729 | Neurofibrosarcoma | disease | neurofibrosarcoma | 4893 | NRAS | N-Ras | CTD_human | 16,239,399 | Affinity purification showed N-Ras to be the predominant activated isoform of Ras in two independent neurofibrosarcoma cell lines from NF1 patients (lines ST88-14 and NF90-8). | 0.200275 | Affinity purification showed <span class="gene" id="16239399-3-29-34">N-Ras</span> to be the predominant activated isoform of Ras in two independent <span class="disease" id="16239399-3-101-118">neurofibrosarcoma</span> cell lines from NF1 patients (lines ST88-14 and NF90-8). | CTD_human |
1 | 0 | Biomarker | C0003873 | Rheumatoid Arthritis | disease | RA | 9052 | GPRC5A | retinoic acid induced 3 | CTD_human | 17,379,860 | Treatment with methotrexate resulted in the reversion of the RA-related expression profile of genes associated with growth and apoptosis including insulin-like growth factor binding protein 3, retinoic acid induced 3, and caveolin 2 as well as in the re-expression of the cell adhesion molecule integrin alpha6. | 0.200275 | Treatment with methotrexate resulted in the reversion of the <span class="disease" id="17379860-6-61-63">RA</span>-related expression profile of genes associated with growth and apoptosis including insulin-like growth factor binding protein 3, <span class="gene" id="17379860-6-193-216">retinoic acid induced 3</span>, and caveolin 2 as well as in the re-expression of the cell adhesion molecule integrin alpha6. | CTD_human |
1 | 0 | Biomarker | C0038220 | Status Epilepticus | disease | SE | 8645 | KCNK5 | TASK-2 | CTD_human | 19,220,408 | In addition, TASK-2 immunoreactivity is gradually increased in perivascular regions following SE. | 0.2 | In addition, <span class="gene" id="19220408-5-13-19">TASK-2</span> immunoreactivity is gradually increased in perivascular regions following <span class="disease" id="19220408-5-94-96">SE</span>. | CTD_human |
2 | 0 | Therapeutic | C0017636 | Glioblastoma | disease | glioblastomas | 7052 | TGM2 | Transglutaminase 2 | CTD_human | 17,099,729 | Transglutaminase 2 inhibitor, KCC009, disrupts fibronectin assembly in the extracellular matrix and sensitizes orthotopic glioblastomas to chemotherapy. | 0.200549 | <span class="gene" id="17099729-0-0-18">Transglutaminase 2</span> inhibitor, KCC009, disrupts fibronectin assembly in the extracellular matrix and sensitizes orthotopic <span class="disease" id="17099729-0-122-135">glioblastomas</span> to chemotherapy. | CTD_human |
null | null | Negative | MESH:C562591 | null | null | XPD | 7508 | null | XPC | null | 28,115,302 | Thirty-eight polymorphisms in eight NER genes were genotyped by Sequenom MassARRAY platform, including XPA, XPC, DDB2, XPB (ERCC3), XPD (ERCC2), ERCC1, XPF (ERCC4), and XPG (ERCC5). | null | null | null |
1 | 0 | Biomarker | C0035222 | Respiratory Distress Syndrome, Adult | disease | ARDS | 5321 | PLA2G4A | cPLA2 | CTD_human | 10,881,173 | Using a murine model of acute lung injury induced by septic syndrome or acid aspiration, we investigated the role of cytosolic phospholipase A2 (cPLA2) in ARDS. | 0.2 | Using a murine model of acute lung injury induced by septic syndrome or acid aspiration, we investigated the role of <span class="gene" id="10881173-3-117-143">cytosolic phospholipase A2</span> (<span class="gene" id="10881173-3-145-150">cPLA2</span>) in <span class="disease" id="10881173-3-155-159">ARDS</span>. | CTD_human |
4 | 3 | Biomarker | C0033860 | Psoriasis | disease | psoriasis | 51752 | ERAP1 | ERAP1 | CTD_human | 20,953,187 | ERAP1 and ZNF816A were associated with type 1 (early onset) psoriasis in the Chinese Han population (test for heterogeneity P = 6.5 × 10?³ and P = 1.5 × 10?³, respectively). | 0.203571 | <span class="gene" id="20953187-4-0-5">ERAP1</span> and ZNF816A were associated with type 1 (early onset) <span class="disease" id="20953187-4-60-69">psoriasis</span> in the Chinese Han population (test for heterogeneity P = 6.5 × 10?³ and P = 1.5 × 10?³, respectively). | CTD_human |
null | null | Negative | MESH:D064420 | null | null | toxicity | 8094685 | null | DNase | null | 28,060,574 | Further, all duplications of the cognate immunity protein contributed to neutralize the DNase toxicity of Pyocin S3 and Colicin, which has not been reported previously. | null | null | null |
null | null | Negative | MESH:D029424 | null | null | chronic obstructive pulmonary disease | 260431 | null | COPD | null | 28,170,284 | The heritability of chronic obstructive pulmonary disease (COPD) cannot be fully explained by recognized genetic risk factors identified as achieving genome-wide significance. | null | null | null |
null | null | Negative | MESH:D005124 | null | null | developmental eye defects | 40336 | null | parkin | null | 28,106,473 | In addition, the effect of Buffy overexpression upon parkin-induced developmental eye defects was examined through GMR-Gal4-dependent expression. | null | null | null |
null | null | Negative | MESH:D016518 | null | null | NF2 | 4763 | null | NF1 | null | 28,078,568 | Whatever diagnosis we could consider these tumours could be secondary to a (local) mosaic loss of heterozygosity and ultimately represent type 2 segmental manifestations superimposed on an ordinary autosomal dominant trait (i.e., NF1, NF2 or SWTNS). | null | null | null |
68 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 5443 | POMC | ACTH | CTD_human | 2,821,097 | Children who develop hypertension during ACTH therapy should be considered at risk for hypertrophic cardiomyopathy and should undergo routine echocardiographic evaluation. | 0.203846 | Children who develop <span class="disease" id="2821097-5-21-33">hypertension</span> during <span class="gene" id="2821097-5-41-45">ACTH</span> therapy should be considered at risk for hypertrophic cardiomyopathy and should undergo routine echocardiographic evaluation. | CTD_human |
1 | 0 | Therapeutic | C0004153 | Atherosclerosis | disease | atherosclerosis | 246 | ALOX15 | 12/15-Lipoxygenase | CTD_human | 16,303,615 | 12/15-Lipoxygenase gene disruption and vitamin E administration diminish atherosclerosis and oxidative stress in apolipoprotein E deficient mice through a final common pathway. | 0.224904 | <span class="gene" id="16303615-0-0-18">12/15-Lipoxygenase</span> gene disruption and vitamin E administration diminish <span class="disease" id="16303615-0-73-88">atherosclerosis</span> and oxidative stress in apolipoprotein E deficient mice through a final common pathway. | CTD_human |
null | null | Negative | MESH:D000740 | null | null | anemia | 3716;3717 | null | JAK1/2 | null | 28,188,131 | Results from a phase 2 study for the treatment of MF with the Janus kinase 1/2 (JAK1/2) inhibitor momelotinib (MMB) demonstrated that MMB treatment ameliorated anemia, which was unexpected for a JAK1/2 inhibitor, because erythropoietin-mediated JAK2 signaling is essential for erythropoiesis. | null | null | null |
null | null | Negative | MESH:C535387 | null | null | PPD | 3458 | null | interferon-gamma | null | 28,043,584 | Mycobacterial antigen (PPD) and mitogen-stimulated SOCS1, SOCS3, interferon-gamma (IFN-y), IL-6, and tumor necrosis factor alpha (TNFa) mRNA expression levels were determined using real-time polymerase chain reaction. | null | null | null |
1 | 0 | Biomarker | C0376634 | Craniofacial Abnormalities | group | craniofacial abnormalities | 6495 | SIX1 | Six 1 | CTD_human | 12,834,866 | Thymus, kidney and craniofacial abnormalities in Six 1 deficient mice. | 0.2 | Thymus, kidney and <span class="disease" id="12834866-0-19-45">craniofacial abnormalities</span> in <span class="gene" id="12834866-0-49-54">Six 1</span> deficient mice. | CTD_human |
null | null | Negative | MESH:D014388 | null | null | lymph node | 5376 | null | DSS | null | 28,130,622 | In the multivariate analysis, a lymph node (LN) ratio of 0.113 or higher was a significant poor prognostic factor for OS (hazard ratio [HR] 1.89; 95% confidence interval [CI] 1.17-3.05; p = 0.009), DSS (HR 2.17; 95% CI 1.29-3.64; p = 0.003), and DFS (HR, 2.24; 95% CI 1.12-4.52; p = 0.024) in stage 4 hypopharyngeal cancer. | null | null | null |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 7249 | TSC2 | TSC2 | CTD_human | 14,627,686 | Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism. | 0.484107 | Association of INPP1, PIK3CG, and <span class="gene" id="14627686-0-34-38">TSC2</span> gene variants with <span class="disease" id="14627686-0-58-75">autistic disorder</span>: implications for phosphatidylinositol signalling in <span class="disease" id="14627686-0-129-135">autism</span>. | CTD_human;HPO |
null | null | Negative | MESH:D012164 | null | null | Children's Hospital of Philadelphia Retinopathy of Prematurity | 5956 | null | ROP | null | 28,056,115 | Importance: The Telemedicine Approaches to Evaluating Acute-Phase Retinopathy of Prematurity (e-ROP) Study telemedicine system of remote fundus image grading and The Children's Hospital of Philadelphia Retinopathy of Prematurity (CHOP-ROP) postnatal weight gain predictive model are 2 approaches for improving ROP screening efficiency. | null | null | null |
null | null | Negative | MESH:D011818 | null | null | rabies | 16196 | null | interleukin-7 | null | 28,100,620 | In this study, a recombinant rabies virus (RABV) that expressed murine interleukin-7 (IL-7), referred to here as rLBNSE-IL-7, was constructed, and its effectiveness was evaluated in a mouse model. | null | null | null |
null | null | Negative | MESH:D011475 | null | null | Median survival | 3791 | null | VEGFR | null | 28,016,220 | RESULTS: Median survival (MS) among VEGFR-I(-) pts(n= 17, 8/17 died) was longer compared to VEGFR-I(+) pts (n= 5, 3/5 died)[26 vs. 11 mos, p=0.5244]. | null | null | null |
2 | 1 | Biomarker | C0009324 | Ulcerative Colitis | disease | ulcerative colitis | 3586 | IL10 | IL10 | CTD_human | 18,836,448 | Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. | 0.250926 | Sequence variants in <span class="gene" id="18836448-0-21-25">IL10</span>, ARPC2 and multiple other loci contribute to <span class="disease" id="18836448-0-71-89">ulcerative colitis</span> susceptibility. | CTD_human |
null | null | Negative | MESH:D015223 | null | null | LIP | 4914 | null | neurotrophic tyrosine kinase receptor type 1 | null | 28,008,255 | When compared with free NGF, NGF-SM-ApoE-LIP upregulated the expression of phosphorylated neurotrophic tyrosine kinase receptor type 1 on cholinergic neurons and significantly improved their survival. | null | null | null |
1 | 0 | Biomarker | C0027627 | Neoplasm Metastasis | phenotype | metastasis | 2877 | GPX2 | glutathione peroxidase 2 | CTD_human | 23,867,582 | Expression of glutathione peroxidase 2 is associated with not only early hepatocarcinogenesis but also late stage metastasis. | 0.200549 | Expression of <span class="gene" id="23867582-0-14-38">glutathione peroxidase 2</span> is associated with not only early hepatocarcinogenesis but also late stage <span class="disease" id="23867582-0-114-124">metastasis</span>. | CTD_human |
3 | 0 | Biomarker | C0014804 | Erythromelalgia | disease | erythromelalgia | 6335 | SCN9A | SCN9A | CTD_human | 19,549,232 | Treatment with carbamazepine and gabapentin of a patient with primary erythermalgia (erythromelalgia) identified to have a mutation in the SCN9A gene, encoding a voltage-gated sodium channel. | 0.419145 | Treatment with carbamazepine and gabapentin of a patient with primary erythermalgia (<span class="disease" id="19549232-0-85-100">erythromelalgia</span>) identified to have a mutation in the <span class="gene" id="19549232-0-139-144">SCN9A</span> gene, encoding a voltage-gated sodium channel. | CTD_human;ORPHANET |
3 | 0 | Biomarker | C0030567 | Parkinson Disease | disease | Parkinson's Disease | 6647 | SOD1 | Cu/Zn-superoxide dismutase | CTD_human | 21,318,773 | Table 1 Biochemical Alterations in Substantia Nigra of Parkinson's Disease Indicating Oxidative Stress Elevated Decreased Iron (in microglia, astrocytes, oligodendrocytes, and melanized dopamine neurons and mitochondria) GSH (GSSG unchanged); GSH/GSSG ratio decreased Mitochondrial complex I Ferritin Calcium binding protein (calbindin 28) Mitochondrial monoamine oxidase B Transferrin and transferrin receptor Lipofuscin Vitamins E and C Ubiquitin Copper Cu/Zn-superoxide dismutase Cytotoxic cytokines (TNF-a, IL-1, IL-6) Inflammatory transcription factor NFKB Heme oxygenase-1 Ratio of oxidized to reduced glutathione (GSSG/GSH) Nitric oxide Neuromelanin. | 0.209587 | Table 1 Biochemical Alterations in Substantia Nigra of <span class="disease" id="21318773-12-55-74">Parkinson's Disease</span> Indicating Oxidative Stress Elevated Decreased Iron (in microglia, astrocytes, oligodendrocytes, and melanized dopamine neurons and mitochondria) GSH (GSSG unchanged); GSH/GSSG ratio decreased Mitochondrial complex I Ferritin Calcium binding protein (calbindin 28) Mitochondrial monoamine oxidase B Transferrin and transferrin receptor Lipofuscin Vitamins E and C Ubiquitin Copper <span class="gene" id="21318773-12-456-482">Cu/Zn-superoxide dismutase</span> Cytotoxic cytokines (TNF-a, IL-1, IL-6) Inflammatory transcription factor NFKB Heme oxygenase-1 Ratio of oxidized to reduced glutathione (GSSG/GSH) Nitric oxide Neuromelanin. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | cancer | 20848 | null | STAT3 | null | 28,209,618 | In this study, we show that STAT3 is hyperactivated in ovarian cancer spheroids and that STAT3 disruption in this setting is sufficient to relieve chemoresistance. | null | null | null |
1 | 0 | Biomarker | C3463824 | MYELODYSPLASTIC SYNDROME | group | myelodysplastic syndromes | 648 | BMI1 | BMI1 | CTD_human | 24,571,310 | In this study, we found that the patients of both myelodysplastic syndromes and chronic myeloid leukaemia with BMI1 overexpression had a higher risk in malignant myeloid progression. | 0.201923 | In this study, we found that the patients of both <span class="disease" id="24571310-3-50-75">myelodysplastic syndromes</span> and chronic myeloid leukaemia with <span class="gene" id="24571310-3-111-115">BMI1</span> overexpression had a higher risk in malignant myeloid progression. | CTD_human |
1 | 0 | Biomarker | C0020615 | Hypoglycemia | disease | hypoglycemia | 5465 | PPARA | PPARalpha | CTD_human | 16,777,972 | Here we compared PPARalpha knockout mice with wild type and confirmed that the former developed hypoglycemia during fasting. | 0.2 | Here we compared <span class="gene" id="16777972-2-17-26">PPARalpha</span> knockout mice with wild type and confirmed that the former developed <span class="disease" id="16777972-2-96-108">hypoglycemia</span> during fasting. | CTD_human |
37 | 100 | Biomarker | C0751951 | Central Core Myopathy (disorder) | disease | central core disease | 6261 | RYR1 | RYR1 | CTD_human | 14,708,096 | A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation. | 0.725713 | A new mutation in the skeletal ryanodine receptor gene (<span class="gene" id="14708096-0-56-60">RYR1</span>) is potentially causative of malignant hyperthermia, <span class="disease" id="14708096-0-114-134">central core disease</span>, and severe skeletal malformation. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 3361 | HTR5A | HTR5A | CTD_human | 17,203,304 | We report a significant main effect of the HTR5A gene in autism (P = 0.0088), and a significant three-locus model comprising a synergistic interaction between the ITGB3 and SLC6A4 genes with an additive effect of HTR5A (P < 0.0010). | 0.202682 | We report a significant main effect of the <span class="gene" id="17203304-6-43-48">HTR5A</span> gene in <span class="disease" id="17203304-6-57-63">autism</span> (P = 0.0088), and a significant three-locus model comprising a synergistic interaction between the ITGB3 and SLC6A4 genes with an additive effect of <span class="gene" id="17203304-6-213-218">HTR5A</span> (P < 0.0010). | CTD_human |
1 | 2 | Biomarker | C1850318 | Omodysplasia type 1 | disease | omodysplasia | 10082 | GPC6 | GPC6 | CTD_human | 19,481,194 | Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. | 0.400824 | Mutations in the heparan-sulfate proteoglycan <span class="gene" id="19481194-0-46-56">glypican 6</span> (<span class="gene" id="19481194-0-58-62">GPC6</span>) impair endochondral ossification and cause recessive <span class="disease" id="19481194-0-117-129">omodysplasia</span>. | CTD_human;ORPHANET |
null | null | Negative | MESH:D012507 | null | null | sarcoidosis | 22084 | null | TSC2 | null | 28,092,373 | Collectively, TSC2 maintains macrophage quiescence and prevents mTORC1-dependent granulomatous disease with clinical implications for sarcoidosis. | null | null | null |
null | null | Negative | MESH:D017827 | null | null | wild-type | 16819 | null | LCN2 | null | 28,070,126 | At a time corresponding to peak LCN2 induction in wild-type (WT) mice injected with LPS, Lcn2-/- mice challenged with LPS had exacerbated levels of pro-inflammatory cytokines and exhibited significantly worsened behavioral phenotypes. | null | null | null |
null | null | Negative | MESH:D059350 | null | null | chronic pain | 24166 | null | PACAP | null | 28,057,459 | CONCLUSIONS: Our data suggest that chronic pain-induced PACAP neuroplasticity and signaling in spinoparabrachioamygdaloid projections have an impact on CeA stress- and nociception-associated maladaptive responses, which can be ameliorated upon receptor antagonism even during injury progression. | null | null | null |
1 | 0 | Therapeutic | C0007370 | Catalepsy | disease | catalepsy | 4922 | NTS | neurotensin | CTD_human | 20,882,060 | Effects of pallidal neurotensin on haloperidol-induced parkinsonian catalepsy: behavioral and electrophysiological studies. | 0.2 | Effects of pallidal <span class="gene" id="20882060-0-20-31">neurotensin</span> on haloperidol-induced parkinsonian <span class="disease" id="20882060-0-68-77">catalepsy</span>: behavioral and electrophysiological studies. | CTD_human |
2 | 0 | Biomarker | C0004943 | Behcet Syndrome | disease | Beh?et's disease | 3106 | HLA-B | HLA-B | CTD_human | 20,622,878 | We confirmed the known association of Beh?et's disease with HLA-B*51 and identified a second, independent association within the MHC Class I region. | 0.511261 | We confirmed the known association of <span class="disease" id="20622878-3-38-54">BehÇet's disease</span> with <span class="gene" id="20622878-3-60-65">HLA-B</span>*51 and identified a second, independent association within the MHC Class I region. | CTD_human;ORPHANET |
3 | 0 | Biomarker | C0002878 | Anemia, Hemolytic | disease | haemolytic anaemia | 2539 | G6PD | glucose-6-phosphate dehydrogenase | CTD_human | 2,502,894 | Aspirin-induced acute haemolytic anaemia in glucose-6-phosphate dehydrogenase-deficient children with systemic arthritis. | 0.22187 | Aspirin-induced acute <span class="disease" id="2502894-0-22-40">haemolytic anaemia</span> in <span class="gene" id="2502894-0-44-77">glucose-6-phosphate dehydrogenase</span>-deficient children with systemic arthritis. | CTD_human |
null | null | Negative | MESH:D011125 | null | null | APC | 963084 | null | CPT-11 | null | 28,015,612 | UNASSIGNED: 2010 Background: CPT-11 is oxidized to inactivated metabolites (including APC) by CYP3A enzymes and activated to SN-38 by carboxylesterase-2 (CES-2). | null | null | null |
2 | 0 | Biomarker | C0023487 | Acute Promyelocytic Leukemia | disease | acute promyelocytic leukemia | 960 | CD44 | CD44 | CTD_human | 16,208,414 | CD44 ligation induces apoptosis via caspase- and serine protease-dependent pathways in acute promyelocytic leukemia cells. | 0.203008 | <span class="gene" id="16208414-0-0-4">CD44</span> ligation induces apoptosis via caspase- and serine protease-dependent pathways in <span class="disease" id="16208414-0-87-115">acute promyelocytic leukemia</span> cells. | CTD_human |
null | null | Negative | MESH:D064420 | null | null | toxicity | 338399 | null | PS 1 | null | 28,014,170 | RESULTS: Between 2/2001 and 8/2003, 37 patients have been included, all evaluables for toxicity, and 36 for response: median age 62 years (range 37-80; median PS 1. | null | null | null |
null | null | Negative | MESH:D018205 | null | null | hypodermal adiposity | 24835 | null | tumor necrosis factor a | null | 28,137,427 | The day of balanopreputial separation, sexual behavior, sexual organ weight, hypodermal adiposity, striatal dopamine and serotonin, serum testosterone, and tumor necrosis factor a (TNF-a) were evaluated. | null | null | null |
1 | 0 | Biomarker | C0030567 | Parkinson Disease | disease | Parkinson's Disease | 3162 | HMOX1 | Heme oxygenase-1 | CTD_human | 21,318,773 | Table 1 Biochemical Alterations in Substantia Nigra of Parkinson's Disease Indicating Oxidative Stress Elevated Decreased Iron (in microglia, astrocytes, oligodendrocytes, and melanized dopamine neurons and mitochondria) GSH (GSSG unchanged); GSH/GSSG ratio decreased Mitochondrial complex I Ferritin Calcium binding protein (calbindin 28) Mitochondrial monoamine oxidase B Transferrin and transferrin receptor Lipofuscin Vitamins E and C Ubiquitin Copper Cu/Zn-superoxide dismutase Cytotoxic cytokines (TNF-a, IL-1, IL-6) Inflammatory transcription factor NFKB Heme oxygenase-1 Ratio of oxidized to reduced glutathione (GSSG/GSH) Nitric oxide Neuromelanin. | 0.210569 | Table 1 Biochemical Alterations in Substantia Nigra of <span class="disease" id="21318773-12-55-74">Parkinson's Disease</span> Indicating Oxidative Stress Elevated Decreased Iron (in microglia, astrocytes, oligodendrocytes, and melanized dopamine neurons and mitochondria) GSH (GSSG unchanged); GSH/GSSG ratio decreased Mitochondrial complex I Ferritin Calcium binding protein (calbindin 28) Mitochondrial monoamine oxidase B Transferrin and transferrin receptor Lipofuscin Vitamins E and C Ubiquitin Copper Cu/Zn-superoxide dismutase Cytotoxic cytokines (TNF-a, IL-1, IL-6) Inflammatory transcription factor NFKB <span class="gene" id="21318773-12-562-578">Heme oxygenase-1</span> Ratio of oxidized to reduced glutathione (GSSG/GSH) Nitric oxide Neuromelanin. | CTD_human |
2 | 0 | Biomarker | C1868720 | Periventricular Nodular Heterotopia | disease | periventricular heterotopia | 2316 | FLNA | filamin 1 | CTD_human | 9,883,725 | Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. | 0.490714 | Mutations in <span class="gene" id="9883725-0-13-22">filamin 1</span> prevent migration of cerebral cortical neurons in human <span class="disease" id="9883725-0-79-106">periventricular heterotopia</span>. | CTD_human;ORPHANET |
3 | 0 | Biomarker | C0019202 | Hepatolenticular Degeneration | disease | Wilson's disease | 1356 | CP | ceruloplasmin | CTD_human | 7,849,148 | The diminution of ceruloplasmin, which until a few years ago was mistakenly thought to be the pathogenetic cause of Wilson's disease, is an epiphenomenon of the underlying metabolic defect characterized by defective copper biliary excretion. | 0.211264 | The diminution of <span class="gene" id="7849148-3-18-31">ceruloplasmin</span>, which until a few years ago was mistakenly thought to be the pathogenetic cause of <span class="disease" id="7849148-3-116-132">Wilson's disease</span>, is an epiphenomenon of the underlying metabolic defect characterized by defective copper biliary excretion. | CTD_human |
null | null | Negative | MESH:D012175 | null | null | retinoblastoma | 6521 | null | AE1 | null | 28,045,832 | Pan-cytokeratin (AE1/AE3), desmin, alpha-SMA, EMA, bcl-2, p53, and remarkably retinoblastoma protein (pRb) were negative. | null | null | null |
1 | 0 | Biomarker | C0037769 | West Syndrome | disease | infantile spasms | 3295 | HSD17B4 | D-bifunctional protein | CTD_human | 16,919,904 | D-bifunctional protein deficiency associated with drug resistant infantile spasms. | 0.200275 | <span class="gene" id="16919904-0-0-22">D-bifunctional protein</span> deficiency associated with drug resistant <span class="disease" id="16919904-0-65-81">infantile spasms</span>. | CTD_human |
null | null | Negative | MESH:D008545 | null | null | Melanoma | 100422982 | null | miR-4286 | null | 28,005,927 | Melanoma cells were transfected with miR-4286 inhibitor to evaluate the influence of this microRNA on the viability, proliferation, apoptosis, migration, and invasion of melanoma cells. | null | null | null |
null | null | Negative | MESH:D017695 | null | null | TF-positive cancer cells, the CAR-modified T cells | 27220 | null | CAR T | null | 28,055,955 | In the presence of TF-positive cancer cells, the CAR-modified T cells (TF-CAR T) were highly activated and showed specific cytotoxicity to TF-positive cancer cells in vitro. | null | null | null |
null | null | Negative | MESH:D008141 | null | null | lumbar lordosis | 730 | null | C7-CSVL | null | 28,059,683 | Several radiographic spinopelvic parameters were measured as follows: sagittal vertical axis (SVA), thoracic kyphosis (TK), sacral slope (SS), pelvic tilt (PT), pelvic incidence (PI), lumbar lordosis (LL), and segmental lordosis at L4-5 (SL) in the sagittal view, and C7-central sacral vertical line (C7-CSVL) in the coronal view. | null | null | null |
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