biomarker_id biomarker assessed_biomarker_entity assessed_biomarker_entity_id assessed_entity_type condition condition_id exposure_agent exposure_agent_id best_biomarker_role specimen specimen_id loinc_code evidence_source evidence tag vocab_pattern biomarker_controlled_vocab component_group flags AO2172-1 presence of rs78378222 mutation in TP53 TP53 dbSNP:rs78378222 gene basal cell carcinoma DOID:2513 risk PubMed:23742673 assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs78378222 sequence variation in gene TP53/NCBI:7157 6939 check_entity BD0259-1 presence of mutation in BRCA1 BRCA1 NCBI:672 gene ovarian cancer DOID:2394 prognostic;risk PubMed:21862407 In a study of 63 patients with ovarian cancer, 17 patients had BRCA1 or BRCA2 mutations and 46 patients had no BRCA mutations. Of the BRCA-positive patients, 7/17(41%; 95%CI 22-64) showed objective response to olaparib whereas only 11/46 BRCA-negative patients (24%; 95%CI 14-38) showed objective response to olaparib. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_II::presence:of:mutation:in sequence variation in gene BRCA1/NCBI:672 203485 check_entity BA8025-1 presence of rs139505845 mutation in MSI2 MSI2 dbSNP:rs139505845 gene ovarian cancer DOID:2394 risk PubMed:31488892 assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs139505845 sequence variation in gene MSI2/NCBI:124540 203486 check_entity AN5449-1 increased expression of MYC MYC NCBI:4609 gene lung small cell carcinoma DOID:5409 risk PubMed:28490518 A preclinical study to evaluate the efficacy of targeting the overexpressed CHEK1 cell cycle chekpoint kinase, including both miRNA and Prexasertib-induced inhibition. Both in vitro and in vivo, Prexasertib had strong single agent efficacy and augmented the effect of Olaparib or Cisplatin in either combination, including platinum-resistant models. CHEK1 and MYC overexpression were predictors of response. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:expression Increased expression of gene MYC/NCBI:4609 203487 AN5533-5 NTRK3 ETV6::NTRK3 mutation NTRK3 NCBI:4916 gene congenital fibrosarcoma DOID:8418 diagnostic;risk PubMed:29606586 Four out of six patients with infantile fibrosarcoma and a ETV6-NTRK3 fusion had a partial response, the remaining two had a complete response with larotrectinib. Treatment was done within a multicentre, open-label, phase 1/2 study and enrolled infants, children, and adolescents aged 1 month to 21 years with locally advanced or metastatic solid tumours or CNS tumours that had relapsed, progressed, or were non-responsive to available therapies regardless of TRK fusion Status. In total, 24 patients (n=17 with tumours harbouring TRK fusions, n=7 without a documented TRK fusion) were enrolled. Among the fusion-positive patients, eight (47%) had infantile fibrosarcoma, seven (41%) had other soft tissue sarcomas, and two (12%) had papillary thyroid cancer. 14 (93%) of 15 patients with TRK fusion-positive cancers achieved an objective response; the remaining patient had tumour regression that did not meet the criteria for objective response. None of the seven patients with TRK fusion-negative cancers had an objective response. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_I::ETV6::NTRK3 sequence variation in gene NTRK3/NCBI:4916 2122 check_entity AN6485-1 increased HOXA9 meth-ctDNA level HOXA9 NCBI:3205 gene ovarian cancer DOID:2394 predictive blood UBERON:0000178 PubMed:31865042 Detection of HOXA9 meth-ctDNA during treatment with a PARP inhibitor was associated with worse clinical outcomes. Longitudinal monitoring of HOXA9 meth-ctDNA is clinically feasible and is strongly correlated to clinical outcomes (PFS, OS), suggesting that it may serve as a valuable predictive biomarker to inform clinical decision-making in the setting of platinum-resistant BRCA-mutated OC treated with a PARP inhibitor. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition increased HOXA9 meth-ctDNA level [biomarker_term_in_review] 202394 not_mapped AN6490-1 decreased MIR-498-5P level miRNA-498-5p MRB:MI0003142 RNA liver cancer DOID:3571 diagnostic liver UBERON:0002107 PubMed:30592286 The miR-498 expression level was significantly lower in liver cancer patient tissues than that in healthy control tissues. Furthermore, ZEB2 knockdown recapitulated the inhibitory effects of miR-498 overexpression in liver cancer cells. Thus, we demonstrated that miR-498 suppresses the growth and metastasis of liver cancer cells, partly at least, by directly targeting ZEB2, suggesting that miR-498 may serve as a potential biomarker for the diagnosis and therapy of liver cancer. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:decreased;aspect_type:level Decreased level of RNA miRNA-498-5p/MRB:MI0003142 202399 AN4975-2 EGFR Exon 20 Insertion EGFR NCBI:1956 gene lung non-small cell carcinoma DOID:3908 risk PubMed:31208370 Retrospective study of six Chinese patients with EGFR exon 20 insertion mutant stage IV non-small cell lung carcinoma treated with osimertinib. Four of the patients experienced partial response (67.7%) and two had stable disease during treatment. Two patients had sustained disease control and remained on treatment. The median progression-free survival was 6.2 months (95% CI 5.0-12.9 months). assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_II::exon:20:insertion sequence variation in gene EGFR/NCBI:1956 1246 check_entity BB1524-1 increased AFP level Alpha-fetoprotein UPKB:P02771 protein liver cancer DOID:3571 diagnostic blood UBERON:0000178 PubMed:12717392 DCP was more sensitive and specific than AFP for differentiating HCC from nonmalignant chronic liver disease. Four groups were studied: G1, normal healthy subjects; G2, patients with noncirrhotic chronic hepatitis; G3, patients with compensated cirrhosis; and G4, patients with histologically proven HCC. AFP levels increased progressively from G1 to G4. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of protein AFP/UPKB:P02771 202363 AN6373-1 increased TNNI3 level Troponin I, cardiac muscle UPKB:P19429 protein COVID-19 DOID:0080600 monitoring blood UBERON:0000178 10839-9 PubMed:32169400 cTnI values are significantly increased in patients with severe SARS-CoV-2 infection compared to those with milder forms of disease. It is hence reasonable to hypothesize that initial measurement of cardiac damage biomarkers immediately after hospitalization for SARS-CoV-2 infection, as well as longitudinal monitoring during hospital stay, may help identifying a subset of patients with possible cardiac injury and thereby predict the progression of COVID-19 towards a worse clinical picture. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of protein TNNI3/UPKB:P19429 202260 BD0261-1 increased NT-proBNP level Natriuretic peptides A UPKB:P01160 protein COVID-19 DOID:0080600 monitoring blood UBERON:0000178 20569-0 PubMed:32305557 More severe COVID-19 infection is associated with higher mean troponin (SMD 0.53, 95% CI 0.30 to 0.75, p < 0.001), with a similar trend for creatine kinase-MB, myoglobin, and NT-proBNP. hsTnI and NT-proBNP levels increased during the course of hospitalization only in non-survivors. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of protein NPPA/UPKB:P01160 203488 AN6753-1 increased CK-MB level Creatine kinase MB PRO:PR_000050356 protein complex COVID-19 DOID:0080600 monitoring blood UBERON:0000178 20569-0 PubMed:32220650 Besides radiographic presentations, variables that were associated significantly with severity of COVID-19 were decreased lymphocytes, elevated body temperature, and high levels of procalcitonin, D-dimer, and creatine kinase MB. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of protein complex creatine kinase MB/PRO:PR_000050356 202287 AN6290-5 increased CRP level C-reactive protein UPKB:P02741 protein COVID-19 DOID:0080600 monitoring blood UBERON:0000178 71426-1 PubMed:32425269 The maximal level of IL-6, followed by CRP level, was highly predictive of the need for mechanical ventilation. This suggests the possibility of using IL-6 or CRP level to guide escalation of treatment in patients with COVID-19-related hyperinflammatory syndrome. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of protein CRP/UPKB:P02741 202145 AN5048-6 ERBB2 amplification ERBB2 NCBI:2064 gene colorectal cancer DOID:9256 PubMed:24146218 HER2 in high-risk rectal cancer patients treated in EXPERT-C, a randomized phase II trial of neoadjuvant capecitabine and oxaliplatin (CAPOX) and chemoradiotherapy (CRT) with or without cetuximab assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of gene ERBB2/NCBI:2064 1351 BD0262-1 presence of mutation in PIK3CA PIK3CA NCBI:5290 gene colorectal cancer DOID:9256 prognostic;risk PubMed:23435830 PIK3CA mutation is associated with poor survival among patients with metastatic colorectal cancer following anti-EGFR monoclonal antibody therapy: a meta-analysis assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_II::presence:of:mutation:in sequence variation in gene PIK3CA/NCBI:5290 203489 check_entity AN5328-1 KRAS Exon 2 mutation KRAS NCBI:3845 gene colorectal cancer DOID:9256 prognostic;risk PubMed:24559322 Regorafenib in metastatic colorectal cancer assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_II::exon:2:mutation sequence variation in gene KRAS/NCBI:3845 1784 check_entity BA9732-1 presence of rs74543909 mutation in HDLBP HDLBP dbSNP:rs74543909 gene prostate cancer DOID:10283 risk PubMed:32887889 assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs74543909 sequence variation in gene HDLBP/NCBI:3069 183507 check_entity AN5334-1 KRAS G12D mutation KRAS NCBI:3845 gene colorectal cancer DOID:9256 prognostic;risk PubMed:22948721 Impact of the specific mutation in KRAS codon 12 mutated tumors on treatment efficacy in patients with metastatic colorectal cancer receiving cetuximab-based first-line therapy: a pooled analysis of three trials assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_I::G12D sequence variation in gene KRAS/NCBI:3845 1805 check_entity AN6435-1 increased OXLDL level Oxidized low-density lipoprotein NCIt:C204113 lipoprotein colorectal cancer DOID:9256 risk blood UBERON:0000178 54238-1 PubMed:15533907 Higher levels of serum oxLDL may increase risk of colorectal cancer. Cases included both colon and rectal cancers. Risk for colon cancer only was increased with high serum oxLDL levels after adjusting for gender, age, study area, and potential confounders. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of lipoprotein oxidized low-density lipoprotein/NCIt:C204113 202331 BD0263-1 presence of mutation in BRAF BRAF NCBI:673 gene colorectal cancer DOID:9256 prognostic;risk PubMed:25673558 Predictive role of BRAF mutations in patients with advanced colorectal cancer receiving cetuximab and panitumumab: a meta-analysis assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_II::presence:of:mutation:in sequence variation in gene BRAF/NCBI:673 203490 check_entity BD0264-1 increased homocysteine level Homocysteine PCCID:91552 amino acid homocystinuria DOID:9263 diagnostic serum UBERON:0001977 PubMed:20142522 assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of amino acid homocysteine/PCCID:91552 203491 check_entity_type AN5337-2 KRAS G12V mutation KRAS NCBI:3845 gene colorectal cancer DOID:9256 risk PubMed:20978259 Association of KRAS p.G13D mutation with outcome in patients with chemotherapy-refractory metastatic colorectal cancer treated with cetuximab assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_I::G12V sequence variation in gene KRAS/NCBI:3845 1822 check_entity BA8610-1 presence of rs183117027 mutation in APOB APOB dbSNP:rs183117027 gene pancreatic cancer DOID:1793 risk PubMed:30206226 assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs183117027 sequence variation in gene APOB/NCBI:338 203492 check_entity AO1439-1 presence of rs4939827 mutation in SMAD7 SMAD7 dbSNP:rs4939827 gene colorectal cancer DOID:9256 risk PubMed:17934461 A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs4939827 sequence variation in gene SMAD7/NCBI:4092 5119 check_entity BD0265-1 increased SAA1 level SAA1 NCBI:6288 gene pancreatic cancer DOID:1793 monitoring blood UBERON:0000178 48498-0 PubMed:16211233 The level of SAA in plasma of pancreatic cancer patients correlated with clinical stage and was significantly higher than in normal volunteers. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of gene SAA1/NCBI:6288 203493 BD0266-1 Increased expression of CHI3L1 CHI3L1 NCBI:1116 gene Alzheimer's disease DOID:10652 prognostic PubMed:36142483 assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:expression Increased expression of gene CHI3L1/NCBI:1116 203494 BD0267-1 Fluoxetine Response markers HDAC5 HDAC5 NCBI:10014 gene depressive disorder DOID:1596 prognostic PubMed:22113448 assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition Fluoxetine Response markers HDAC5 [biomarker_term_in_review] 203495 not_mapped AN6448-1 increased GFAp level Glial fibrillary acidic protein UPKB:P14136 protein COVID-19 DOID:0080600 prognostic blood UBERON:0000178 PubMed:33875374 COVID-19 patients who later developed intensive care unit acquired weakness had significantly higher NfL and GFAp in the early phase of ICU care. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of protein GFAP/UPKB:P14136 202350 AN6539-1 increased sIL-6R level Interleukin-6 receptor subunit alpha UPKB:P08887 protein esophageal cancer DOID:5041 predictive blood UBERON:0000178 PubMed:31582665 Among them, the serum levels of leucine-rich alpha-2-glycoprotein 1 (LRG1) were significantly different (p < 0.01) and well discriminated (area under the curve (AUC) of the receiver operating characteristic (ROC) curve >0.8) between responder and non-responder groups. The present results suggest that LRG1 and its combination with CRP and sIL-6R are promising biomarker candidates to predict response to PCRT in esophageal cancer patients. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of protein IL6R/UPKB:P08887 202452 AN6309-1 increased TNF level Tumor necrosis factor UPKB:P01375 protein COVID-19 DOID:0080600 prognostic blood UBERON:0000178 3074-2 PubMed:32479790 When comparing biochemical indexes of COVID-19 between patients with and without cancer, we found that pro-inflammatory cytokines including TNF-alpha, IL-6, and IL-2R were higher in patients with cancer than in those without cancer. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of protein TNF/UPKB:P01375 202173 AN6284-1 increased SFER level Serum ferritin PRO:PR_000050342 protein complex COVID-19 DOID:0080600 prognostic blood UBERON:0000178 2276-4 PubMed:32286245 In hospitalized patients with respiratory distress, we recommend clinicians closely monitor WBC count, lymphocyte count, platelet count, IL-6 and serum ferritin as markers for potential progression to critical illness. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of protein complex serum ferritin/PRO:PR_000050342 202139 AN6745-1 increased D-dimer level D-dimer PRO:PR_000050369 protein complex COVID-19 DOID:0080600 monitoring blood UBERON:0000178 71427-9 PubMed:32620118 The rising trend in D-Dimer and NLR, or the test results higher than the critical values may indicate a risk of death for participants with COVID-19. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of protein complex d-dimer/PRO:PR_000050369 202163 BA8126-1 presence of rs2747652 mutation in ESR1 ESR1 dbSNP:rs2747652 gene breast cancer DOID:1612 risk PubMed:29058716 assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2747652 sequence variation in gene ESR1/NCBI:2099 196818 check_entity AN6422-1 increased HBA1C level Glycosylated hemoglobin PDB:3B75 protein COVID-19 DOID:0080600 prognostic blood UBERON:0000178 4548-4 PubMed:32416121 High HbA1c level is associated with inflammation, hypercoagulability, and low SaO2 in COVID-19 patients, and the mortality rate (27.7%) is higher in patients with diabetes. Determining HbA1c level after hospital admission is thus helpful assessing inflammation, hypercoagulability, and prognosis of COVID-19 patients. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of protein glycosylated hemoglobin/PDB:3B75 202309 AN4808-2 BRAF V600 mutation BRAF NCBI:673 gene colorectal cancer DOID:9256 risk PubMed:23325582 Massively parallel tumor multigene sequencing to evaluate response to panitumumab in a randomized phase III study of metastatic colorectal cancer assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_I::V600 sequence variation in gene BRAF/NCBI:673 959 check_entity AN6697-1 increased IGF2BP3 level Insulin-like growth factor 2 mRNA-binding protein 3 UPKB:O00425 protein kidney cancer DOID:263 prognostic kidney UBERON:0002113 PubMed:30650187 IMP3 concentration was significantly elevated in plasma samples of tumor patients compared to healthy controls (p=0.015). IMP3 mRNA expression was significantly higher in Renal Cell Carcinoma (RCC) tissues compared to tumor neighboring normal tissues (p=0.001). high IMP3 plasma concentration was an independent risk factor of Overall Survival, OS, (p=0.002) and DSS (p=0.039) and elevated IMP3 mRNA expression levels were independently associated with poor DSS (p=0.047). assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of protein IGF2BP3/UPKB:O00425 202617 AN5331-1 KRAS G12/G13 mutation KRAS NCBI:3845 gene colorectal cancer DOID:9256 prognostic;risk PubMed:20619739 Following the discovery that mutant KRAS is associated with resistance to anti-epidermal growth factor receptor (EGFR) antibodies, the tumours of patients with metastatic colorectal cancer are now profiled for seven KRAS mutations before receiving cetuximab or panitumumab assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_II::g12/g13:mutation sequence variation in gene KRAS/NCBI:3845 1793 check_entity BD0268-1 Increased 17-Hydroxyprogesterone 17-Hydroxyprogesterone PCCID:6238 metabolite congenital adrenal hyperplasia DOID:0050811 diagnostic blood UBERON:0000178 PubMed:16551734 17-hydroxyprogesterone and 21-deoxycortisol levels are elevated in patients with congenital adrenal hyperplasia, suggesting their potential use as markers for diagnosis and monitoring. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of metabolite 17-Hydroxyprogesterone/PCCID:6238 203496 BA7410-1 presence of rs2289702 mutation in CTSH CTSH dbSNP:rs2289702 gene basal cell carcinoma DOID:2513 risk PubMed:31174203 assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2289702 sequence variation in gene CTSH/NCBI:1512 196016 check_entity BA7827-1 presence of rs2268363 mutation in FSHR FSHR dbSNP:rs2268363 gene prostate cancer DOID:10283 risk PubMed:20932654 assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2268363 sequence variation in gene FSHR/NCBI:2492 203497 check_entity AN5333-2 KRAS G12C mutation KRAS NCBI:3845 gene colorectal cancer DOID:9256 risk PubMed:23313110 The G12C KRAS mutation is a strong negative predictor for EGFR-TKI treatment, whereas other KRAS mutation types have not negatively predicted treatment efficacy compared with that for the wild-type KRAS genotype. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_I::G12C sequence variation in gene KRAS/NCBI:3845 1801 check_entity AN5170-1 FLT3 ITD mutation FLT3 NCBI:2322 gene acute myeloid leukemia DOID:9119 diagnostic PubMed:21067377 In AML patients with FLT3-ITD mutations, concurrent DNMT3A mutations were associated with worse overall survival compared to those without DNMT3A mutation. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_II::itd:mutation sequence variation in gene FLT3/NCBI:2322 1553 check_entity AN5170-3 FLT3 ITD mutation FLT3 NCBI:2322 gene leukemia DOID:1240 risk PubMed:21482694 In a preclinical trial, the leukemic cell line MV4-11 with the FLT3-ITD mutation and the leukemic cell line RS4;11 with the native FLT3 gene were treated with the tyrosine kinase inhibitors (TKI) ponatinib, sorafenib, and sunitinib. Ponatinib was similarly effective in the growth inhibition of cells harboring the FLT3-ITD mutation (IC50=2 nmol/L) compared to sorafenib (IC50=4 nmol/L) and sunitinib (IC50=12 nmol/L). Conversely, all three TKIs each were not effective in the growth inhibition of cells with native FLT3 (IC50>100 nmol/L). assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_II::itd:mutation sequence variation in gene FLT3/NCBI:2322 1555 check_entity BA6766-1 presence of rs704017 mutation in ZMIZ1-AS1 ZMIZ1-AS1 dbSNP:rs704017 gene colorectal cancer DOID:9256 risk PubMed:24836286 It has been shown that ZMIZ1 may play a broader role in epithelial cancers, including CRC 52. SNP rs704010, located in intron 1 of the ZMIZ1 gene, has been associated with breast cancer assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs704017 sequence variation in gene ZMIZ1-AS1/NCBI: 203498 check_entity AV7770-1 presence of rs1800734 mutation in MLH1 MLH1 dbSNP:rs1800734 gene colorectal cancer DOID:9256 risk PubMed:17301300 Hereditary nonpolyposis colorectal cancer results from germ-line sequence mutations in mismatch-repair genes, particularly MLH1 and MSH2 assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1800734 sequence variation in gene MLH1/NCBI:4292 103443 check_entity AN5335-1 KRAS G12R mutation KRAS NCBI:3845 gene colorectal cancer DOID:9256 risk PubMed:18316791 The high positive predictive value (100% for lack of objective response rate) for mutant KRAS suggests that inhibition of the RAS/RAF/MAPK signaling pathway is primarily responsible for the clinical activity of panitumumab in metastatic CRC, and raises the possibility that mutant KRAS may be predictive in other tumor types. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_I::G12R sequence variation in gene KRAS/NCBI:3845 1816 check_entity AN4775-2 BRAD D594G mutation BRAF NCBI:673 gene colorectal cancer DOID:9256 PubMed:27404270 Colorectal cancers with BRAF D594G mutations exhibit similar clinicopathological features, microsatellite instability status, and prognosis as those with BRAF wild-type. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_I::D594G sequence variation in gene BRAF/NCBI:673 203499 check_entity AN5325-1 KRAS A146T mutation KRAS NCBI:3845 gene colorectal cancer DOID:9256 risk PubMed:20570890 Mutations in exon 4 of KRAS were found to occur commonly and to predict for a more favorable clinical outcome in patients with colorectal cancer. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_I::A146T sequence variation in gene KRAS/NCBI:3845 1778 check_entity AN5332-1 KRAS G12A mutation KRAS NCBI:3845 gene colorectal cancer DOID:9256 risk PubMed: In KRAS wild types, carriers of BRAF and NRAS mutations had a significantly lower response rate than did BRAF and NRAS wild types, with a response rate of 8.3% (2/24) in carriers of BRAF mutations versus 38.0% in BRAF wild types (124/326; OR 0.15, 95% CI 0.02-0.51; p=0.0012); and 7.7% (1/13) in carriers of NRAS mutations versus 38.1% in NRAS wild types (110/289; OR 0.14, 0.007-0.70; p=0.013). assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_I::G12A sequence variation in gene KRAS/NCBI:3845 1796 check_entity BA7537-1 presence of rs6066825 mutation in PREX1 PREX1 dbSNP:rs6066825 gene colorectal cancer DOID:9256 risk PubMed:26151821 The SNP at 20q13.13 (rs6066825) lies within an intron of the PREX1 gene that encodes the Rac-guanine nucleotide exchange factor P-Rex1, a signaling protein involved in cell migration and invasion in some cell types37. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6066825 sequence variation in gene PREX1/NCBI:57580 203500 check_entity AN4771-1 BRAF amplification BRAF NCBI:673 gene colorectal cancer DOID:9256 risk PubMed:25673644 It has been previously demonstrated by our group and others that resistance to MEK inhibitors can be promoted by molecular alterations that activate the MAPK pathway upstream of MEK, including RAS mutation or amplification and BRAF amplification, likely by leading to increased pathway flux and MEK hyperactivation that can overcome the effects of MEK inhibitors assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of gene BRAF/NCBI:673 906 AN5587-2 PIK3CA exon 10 mutation PIK3CA NCBI:5290 gene colorectal cancer DOID:9256 prognostic;risk PubMed:20619739 Objective response rates in our series were 24.4% in the unselected population, 36.3% in the KRAS wild-type selected population, and 41.2% in the KRAS, BRAF, NRAS, and PIK3CA exon 20 wild-type population. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_II::exon:10:mutation sequence variation in gene PIK3CA/NCBI:5290 203501 check_entity AN4974-1 EGFR exon 19 deletion EGFR NCBI:1956 gene lung adenocarcinoma DOID:3910 risk PubMed:23816960 A phase III clinical trial (NCT00949650) found that median progression free survival among patients with EGFR exon 19 deletion was 13.6 months for afatinib and 6.9 months for chemotherapy (HR, 0.47; 95% CI, 0.34 to 0.65; P = .001). 308 patients had either exon 19 or L858 mutations. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_II::exon:19:deletion sequence variation in gene EGFR/NCBI:1956 1243 check_entity AN5009-3 increased expression of EGFR EGFR NCBI:1956 gene head and neck squamous cell carcinoma DOID:5520 prognostic;risk PubMed:23265711 EGFR expression level was not predicitive of response to cetuximab-containing first line regimens in recurrent or metastatic head and neck squamous cell carcinoma and KRAS-wild type colorectal carcinoma. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:expression Increased expression of gene EGFR/NCBI:1956 203502 AN5009-2 increased expression of EGFR EGFR NCBI:1956 gene esophagus squamous cell carcinoma DOID:3748 prognostic;risk PubMed:26459251 55 tumor samples were analyzed for EGFR expression using IHC. The objective response rate to anti-EGFR antibody nimotuzumab did not differ significantly between EGFR high- (18 pts) and EGFR low to moderate groups (37 pts). assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:expression Increased expression of gene EGFR/NCBI:1956 203503 AN4998-4 EGFR L858R mutation EGFR NCBI:1956 gene lung non-small cell carcinoma DOID:3908 prognostic;risk PubMed:24457318 In NSCLC patients treated with EGFR tyrosine kinase inhibitors, the presence of L858R mutation is prognostic for better progression free survival. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_I::L858R sequence variation in gene EGFR/NCBI:1956 1277 check_entity AN4998-3 EGFR L858R mutation EGFR NCBI:1956 gene lung adenocarcinoma DOID:3910 risk PubMed:22452895 In a phase 2 study of patients with lung adenocarcinoma (stage IIIb with pleural effusion or stage IV) and EGFR mutations, treated with afatinib were assessed by objective response. 129 patients were treated with afatinib. 66% of the 106 patients with two common activating EGFR mutations (deletion 19 or L858R) had an objective response compared to 39% of 23 patients with less common mutations. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_I::L858R sequence variation in gene EGFR/NCBI:1956 1276 check_entity AN4998-2 EGFR L858R mutation EGFR NCBI:1956 gene high grade glioma DOID:3070 risk PubMed:17177598 In an in vitro study, a Ba/F3 cell line expressing EGFR L858R demonstrated increased sensitivity to erlotinib treatment, compared to Ba/F3 cells expressing EGFR wild-type. Variant function was assessed by EGFR auto-phosphorylation. Sensitivity was assessed by cell viability assay using stable transfection of each variant and increasing concentrations of erlotinib (0–10 uM). assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_I::L858R sequence variation in gene EGFR/NCBI:1956 1275 check_entity AN4998-1 EGFR L858R mutation EGFR NCBI:1956 gene cancer DOID:162 risk PubMed:19147750 EGFR L858R was expressed in Ba/F3 cells which do not contain endogenous EGFR, and conferred growth factor independance to the cells. Cells were plated and treated with 1st generation EGFR inhibitors Gefitinib, Erlotinib, or the the tool compound AEE788, and IC50 values were measured. L858R EGFR cells had very low IC50 nmol/L values for all three inhibitors in comparison to other constructs (Gefitinib=12, Erlotinib=6, AEE788=6), indicating sensitivity to all three constructs. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_I::L858R sequence variation in gene EGFR/NCBI:1956 1274 check_entity AN5027-4 EGFR T790M mutation EGFR NCBI:1956 gene lung non-small cell carcinoma DOID:3908 prognostic;risk PubMed:25668228 The T790M mutation in EGFR has been shown to confer resistance to the tyrosine kinase inhibitor erlotinib, and patients harboring this mutation that are placed on the drug are likely to relapse. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_I::T790M sequence variation in gene EGFR/NCBI:1956 1319 check_entity BA6984-5 presence of rs401681 mutation in CLPTM1L CLPTM1L dbSNP:rs401681 gene pancreatic cancer DOID:1793 risk PubMed:26098869 In addition we replicate regions that had previously been reported to be associated with pancreatic cancer in the Caucasian population (Supplementary Table 3). These include: 9q34.29 (ABO, rs505922, OR=1.27, 95%CI:1.19–1.35, P=1.72×10−13), 13q22.110 (KLF5, rs9543325, OR=1.24, 95%CI:1.16–1.32, P=2.26×10−10), 5p15.3310 (CLPTM1, rs401681, OR=1.2, 95% CI:1.13–1.28, P=2.7×10−8) assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs401681 sequence variation in gene CLPTM1L/NCBI:81037 180042 check_entity AO2881-3 presence of rs2736098 mutation in TERT TERT dbSNP:rs2736098 gene pancreatic cancer DOID:1793 risk PubMed:25086665 The minor allele of rs2736098 that is associated with a lower risk of pancreatic cancer in PanScan was associated with longer telomeres and lower risk of breast cancer assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2736098 sequence variation in gene TERT/NCBI:7015 180318 check_entity BA7264-1 presence of rs505922 mutation in ABO ABO dbSNP:rs505922 gene pancreatic cancer DOID:1793 risk PubMed:26098869 In addition we replicate regions that had previously been reported to be associated with pancreatic cancer in the Caucasian population (Supplementary Table 3). These include: 9q34.29 (ABO, rs505922, OR=1.27, 95%CI:1.19–1.35, P=1.72×10−13) assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs505922 sequence variation in gene ABO/NCBI:28 180040 check_entity AN4881-3 CDKN2A mutation CDKN2A NCBI:1029 gene pancreatic cancer DOID:1793 risk PubMed:35100714 Palbociclib monotherapy does not have clinical activity in patients with advanced pancreatic or biliary cancers with CDKN2A loss or mutation assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_II::mutation sequence variation in gene CDKN2A/NCBI:1029 1125 check_entity BA7268-1 presence of rs17688601 mutation in SUGCT SUGCT dbSNP:rs17688601 gene pancreatic cancer DOID:1793 risk PubMed:26098869 We observed significant association on 7p13 for rs17688601, located in an intron of the SUGCT (succinyl-CoA:glutarate-CoA transferase) gene (alias c7orf10) assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs17688601 sequence variation in gene SUGCT/NCBI:79783 180045 check_entity AN6278-5 increased IL6 level Interleukin-6 UPKB:P05231 protein COVID-19 DOID:0080600 prognostic blood UBERON:0000178 26881-3 PubMed:32479790 IL-6 plays multifaceted roles in regulation of vascular leakage, complement activation, and coagulation pathways, which ultimately causes poor outcomes for acute respiratory distress syndrome, multiple organ dysfunction syndrome, and SARS. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of protein IL6/UPKB:P05231 202129 AN6278-4 increased IL6 level Interleukin-6 UPKB:P05231 protein breast cancer DOID:1612 prognostic blood UBERON:0000178 33211-4 PubMed:28791816 The study showed that IL-6, IL-8 and TNF-alpha levels correlated with clinical disease stage and lymph node metastasis as well as with ER and HER2 antigen expression. Specifically, IL-6 and IL-8 seem to have significant potential as prognostic cancer biomarkers. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of protein IL6/UPKB:P05231 202257 AN6278-2 increased IL6 level Interleukin-6 UPKB:P05231 protein diabetes mellitus DOID:9351 prognostic blood UBERON:0000178 26881-3 PubMed:28848164 Our study is suggestive of S100A8/A9 and IL-6 being related to a persistent diabetes status post-surgically and of different pathophysiological mechanisms being involved in the post-surgical changes in the three groups, despite similar decreases in BMI. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of protein IL6/UPKB:P05231 202130 AN6278-5 increased IL6 level Interleukin-6 UPKB:P05231 protein COVID-19 DOID:0080600 predictive plasma UBERON:0001969 26881-3 PubMed:32479790 Elevated IL-6 is a showing of cytokine storm in patients undergoing CAR-T therapy, requiring early action. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of protein IL6/UPKB:P05231 202129 AN6278-7 increased IL6 level Interleukin-6 UPKB:P05231 protein bacterial sepsis DOID:0040085 diagnostic blood UBERON:0000178 26881-3 PubMed:32479790 increased IL-6 expression is commonly used to support early sepsis diagnosis due to its rapid elevation after infection begins. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of protein IL6/UPKB:P05231 203504 AN6278-5 increased IL6 level Interleukin-6 UPKB:P05231 protein COVID-19 DOID:0080600 prognostic serum UBERON:0001977 26881-3 PubMed:32479790 Serum IL-6 levels are signs of progression to multiple organ dysfunction in severe SARS-CoV-2 cases. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of protein IL6/UPKB:P05231 202129 AN6278-8 increased IL6 level Interleukin-6 UPKB:P05231 protein adult respiratory distress syndrome DOID:11394 prognostic plasma UBERON:0001969 26881-3 PubMed:32479790 IL-6 elevation in plasma are connected with poor outcomes in ARDS, causing inflammation and lung damage. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of protein IL6/UPKB:P05231 203505 AN6290-5 increased CRP level C-reactive protein UPKB:P02741 protein COVID-19 DOID:0080600 prognostic blood UBERON:0000178 1988-5 PubMed:32240105 Elevated CRP levels are linked with severe inflammatory response in COVID-19 patients and predict poor clinical outcomes. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of protein CRP/UPKB:P02741 202145 BD0266-1 increased expression of CHI3L1 CHI3L1 NCBI:1116 gene Alzheimer's disease DOID:10652 prognostic PubMed:36142483 Glial Cell-Mediated Neuroinflammation in Alzheimer's Disease assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:expression Increased expression of gene CHI3L1/NCBI:1116 203494 BD0271-1 increased expression of GFAP GFAP NCBI:2670 gene Alzheimer's disease DOID:10652 prognostic PubMed:36142483 Glial Cell-Mediated Neuroinflammation in Alzheimer's Disease assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:expression Increased expression of gene GFAP/NCBI:2670 203506 BD0272-1 increased expression of ICAM1 ICAM1 NCBI:3383 gene Alzheimer's disease DOID:10652 prognostic PubMed:36142483 Glial Cell-Mediated Neuroinflammation in Alzheimer's Disease assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:expression Increased expression of gene ICAM1/NCBI:3383 203507 BD0273-1 increased expression of TREM2 TREM2 NCBI:54209 gene Alzheimer's disease DOID:10652 prognostic PubMed:36142483 Glial Cell-Mediated Neuroinflammation in Alzheimer's Disease assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:expression Increased expression of gene TREM2/NCBI:54209 203508 BD0274-1 increased expression of S100B S100B NCBI:6285 gene Alzheimer's disease DOID:10652 prognostic PubMed:36142483 Glial Cell-Mediated Neuroinflammation in Alzheimer's Disease assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_I::S100B sequence variation in gene S100B/NCBI:6285 203509 check_entity AN6294-4 increased SAA1 level Serum amyloid A-1 protein UPKB:P0DJI8 protein pancreatic cancer DOID:1793 monitoring blood UBERON:0000178 48498-0 PubMed:16211233 The level of SAA in plasma of pancreatic cancer patients correlated with clinical stage and was significantly higher than in normal volunteers assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of protein SAA1/UPKB:P0DJI8 203510 AN5065-3 increased expression of ERBB2 ERBB2 NCBI:2064 gene pancreatic cancer DOID:1793 risk PubMed:22374460 patients with IHC 3+ HER2 expressing advanced pancreatic cancer or cancer with HER2 gene amplification of stage IVB. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:expression Increased expression of gene ERBB2/NCBI:2064 203511 AN4808-5 BRAF V600 mutation BRAF NCBI:673 gene melanoma DOID:1909 diagnostic;risk PubMed:21166657 BRAF mutations are associated with melanoma arising in non-chronic sun damaged skin and with superficial spreading melanoma. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_I::V600 sequence variation in gene BRAF/NCBI:673 962 check_entity AN7363-3 presence of rs115 71833 mutation in BRCA2 BRCA2 dbSNP:rs11571833 gene breast cancer DOID:1612 risk PubMed:11389159 BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs11571833 sequence variation in gene BRCA2/NCBI:675 9072 check_entity AN4811-7 BRAF V600E mutation BRAF NCBI:673 gene colorectal cancer DOID:9256 prognostic;risk PubMed:24594804 V600E is associated with adverse pathological features of colorectal cancer. This can be concluded as a marker of poor prognosis. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_I::V600E sequence variation in gene BRAF/NCBI:673 972 check_entity BA9211-1 presence of rs7726159 mutation in TERT TERT dbSNP:rs7726159 gene breast cancer DOID:1612 risk PubMed:27117709 Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7726159 sequence variation in gene TERT/NCBI:7015 180463 check_entity BD0276-1 increased expression of CCL2 CCL2 NCBI:6347 gene Alzheimer's disease DOID:10652 prognostic PubMed:36142483 Glial Cell-Mediated Neuroinflammation in Alzheimer's Disease. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:expression Increased expression of gene CCL2/NCBI:6347 203512 BD0277-1 increased expression of TSPO TSPO NCBI:706 gene Alzheimer's disease DOID:10652 prognostic PubMed:36142483 Glial Cell-Mediated Neuroinflammation in Alzheimer's Disease. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:expression Increased expression of gene TSPO/NCBI:706 203513 BD0278-1 increased expression of VCAM1 VCAM1 NCBI:7412 gene Alzheimer's disease DOID:10652 prognostic PubMed:36142483 Glial Cell-Mediated Neuroinflammation in Alzheimer's Disease. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:expression Increased expression of gene VCAM1/NCBI:7412 203514 BD0279-1 presence of mutation in CR2 Complement receptor type 2 UPKB:P20023 protein systemic lupus erythematosus DOID:9074 risk blood UBERON:0000178 PubMed:21527715 CR2 enhances antibody production by binding to C3d-tagged antigens, linking innate and adaptive immunity (key in autoimmune activity like lupus) assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_II::presence:of:mutation:in sequence variation in protein CR2/NCBI:1380 203515 BD0280-1 rs10069690 mutation in TERT presence TERT dbSNP:rs10069690 gene ovarian cancer DOID:2394 risk PubMed:26424050 Genome-wide association study identifies multiple susceptibility loci for glioma assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs10069690 sequence variation in gene TERT/NCBI:7015 203516 check_entity BD0259-1 presence of mutation in BRCA1 BRCA1 NCBI:672 gene ovarian cancer DOID:2394 prognostic;risk PubMed:26740259 BRCA1/2 mutations associated with progression-free survival in ovarian cancer patients in the AGO-OVAR 16 study assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_II::presence:of:mutation:in sequence variation in gene BRCA1/NCBI:672 203485 check_entity BD0281-1 increased PSA level Prostate-specific antigen UPKB:P07288 protein prostate cancer DOID:10283 diagnostic serum UBERON:0001977 2857-1 PubMed:26790878 PSA and beyond: alternative prostate cancer biomarkers assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of protein KLK3/UPKB:P07288 203517 AN6746-1 increased CA-125 level Mucin-16 UPKB:Q8WXI7 protein ovarian cancer DOID:2394 monitoring serum UBERON:0001977 10334-1 PubMed:36189508 HE4 and CA125 serum biomarker monitoring in women with epithelial ovarian cancer assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of protein MUC16/UPKB:Q8WXI7 203518 AN6320-1 increased CEACAM5 level Carcinoembryonic antigen-related cell adhesion molecule 5 UPKB:P06731 protein COVID-19 DOID:0080600 monitoring blood UBERON:0000178 PubMed:32540459 In conclusion, the serum CEA levels were found to be increased in patients with severe or critically severe SARS-CoV-2 infection. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:increased;aspect_type:level Increased level of protein CEACAM5/UPKB:P06731 202190 AN4675-4 ALK EML4::ALK mutation ALK NCBI:238 gene lung non-small cell carcinoma DOID:3908 risk PubMed:21575866 CH5424802 treatment resulted in significant tumor regression in xenograft models produced from Ba/F3 cells expressing EML4-ALK or EML4-ALK with the L1196M mutation. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_I::EML4::ALK sequence variation in gene ALK/NCBI:238 756 check_entity BD0283-1 presence of mutation in KRAS KRAS NCBI:3845 gene colorectal cancer DOID:9256 risk PubMed:21890455 TLR9 agonist immunomodulatory oligonucleotide (IMO) led to inhibited survival of LS174T colorectal cancer and AsPC1 pancreatic cancer cell lines with KRAS mutations. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_II::presence:of:mutation:in sequence variation in gene KRAS/NCBI:3845 203519 check_entity AN4811-7 BRAF V600E mutation BRAF NCBI:673 gene colorectal cancer DOID:9256 prognostic;risk PubMed:19001320 Cetuximab or panitumumab may be ineffective in patients with BRAF mutation unless BRAF inhibitor such as Sorafenib is introduced. assessed_biomarker_entity;assessed_biomarker_entity_id;best_biomarker_role;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of bmkb_I::V600E sequence variation in gene BRAF/NCBI:673 972 check_entity