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1 | 0 | Biomarker | C0001403 | Addison Disease | disease | primary adrenal insufficiency | 4261 | CIITA | CIITA | CTD_human | 18,593,762 | Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiency. | 0.205089 | Polymorphisms in CLEC16A and <span class="gene" id="18593762-0-29-34">CIITA</span> at 16p13 are associated with <span class="disease" id="18593762-0-64-93">primary adrenal insufficiency</span>. | CTD_human |
2 | 0 | Biomarker | C0023890 | Liver Cirrhosis | disease | liver cirrhosis | 213 | ALB | albumin | CTD_human | 21,851,314 | This study aimed to assess IMA and IMAR as a liver function test and to investigate whether albumin infusion changes IMAR in patients with liver cirrhosis. | 0.204121 | This study aimed to assess IMA and IMAR as a liver function test and to investigate whether <span class="gene" id="21851314-3-92-99">albumin</span> infusion changes IMAR in patients with <span class="disease" id="21851314-3-139-154">liver cirrhosis</span>. | CTD_human |
null | null | Negative | MESH:D003677 | null | null | dramatically in deficiency | 14775 | null | GPX1 | null | 28,140,330 | Robust biomarkers, such as liver GPX1 and plasma GPX3 activity for selenium, should be specific for the nutrient, fall dramatically in deficiency, and reach well-defined plateaus. | null | null | null |
1 | 0 | Biomarker | C0524620 | Metabolic Syndrome X | disease | metabolic syndrome | 9970 | NR1I3 | CAR | CTD_human | 20,869,355 | CAR and PXR are involved in the development of certain diseases, including diabetes, metabolic syndrome and obesity. | 0.2 | <span class="gene" id="20869355-2-0-3">CAR</span> and PXR are involved in the development of certain diseases, including diabetes, <span class="disease" id="20869355-2-85-103">metabolic syndrome</span> and obesity. | CTD_human |
69 | 0 | Therapeutic | C0020538 | Hypertensive disease | group | hypertension | 183 | AGT | Angiotensin II | CTD_human | 16,868,307 | Angiotensin II, interstitial inflammation, and the pathogenesis of salt-sensitive hypertension. | 0.52 | <span class="gene" id="16868307-0-0-14">Angiotensin II</span>, interstitial inflammation, and the pathogenesis of salt-sensitive <span class="disease" id="16868307-0-82-94">hypertension</span>. | CTD_human |
1 | 0 | Biomarker | C0007124 | Noninfiltrating Intraductal Carcinoma | disease | DCIS | 6513 | SLC2A1 | GLUT1 | CTD_human | 20,526,721 | GLUT1 and CAIX were expressed only in DCIS (56.8% and 25.0%) and IDC (44.1% and 30.5%), with higher expression in high grade DCIS than low/intermediate grade DCIS (79.2% vs. 30.0%, p = 0.001 and 37.5% vs. 10.0%, p = 0.036, respectively). | 0.200549 | <span class="gene" id="20526721-9-0-5">GLUT1</span> and CAIX were expressed only in <span class="disease" id="20526721-9-38-42">DCIS</span> (56.8% and 25.0%) and IDC (44.1% and 30.5%), with higher expression in high grade <span class="disease" id="20526721-9-125-129">DCIS</span> than low/intermediate grade DCIS (79.2% vs. 30.0%, p = 0.001 and 37.5% vs. 10.0%, p = 0.036, respectively). | CTD_human |
null | null | Negative | MESH:D029424 | null | null | chronic obstructive pulmonary disease | 260431 | null | COPD | null | 28,182,144 | INTRODUCTION: Intergenerational associations in chronic obstructive pulmonary disease (COPD) have been well recognized and may result from genetic, gene environment, or exposure to life course factors. | null | null | null |
null | null | Negative | MESH:D007635 | null | null | dendrites to the soma | 12346 | null | CA1 | null | 28,195,219 | Furthermore, DIEDML mice showed increased dendritic complexity in the proximal portion of apical CA1 dendrites to the soma. | null | null | null |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autistic disorder | 4520 | MTF1 | MTF1 | CTD_human | 15,446,388 | We performed family-based association studies of polymorphisms in metal-regulatory transcription factor 1(MTF1), a multispecific organic anion transporter (ABCC1), proton-coupled divalent metal ion transporters (SLC11A3 and SLC11A2), paraoxonase 1 (PON1), and glutathione S-transferase (GSTP1) genes in 196 autistic disorder families. | 0.2 | We performed family-based association studies of polymorphisms in <span class="gene" id="15446388-4-66-105">metal-regulatory transcription factor 1</span>(<span class="gene" id="15446388-4-106-110">MTF1</span>), a multispecific organic anion transporter (ABCC1), proton-coupled divalent metal ion transporters (SLC11A3 and SLC11A2), paraoxonase 1 (PON1), and glutathione S-transferase (GSTP1) genes in 196 <span class="disease" id="15446388-4-307-324">autistic disorder</span> families. | CTD_human |
null | null | Negative | MESH:D030342 | null | null | MET gene amplification | 1956 | null | EGFR | null | 28,023,482 | Progression occurs when resistance to erlotinib develops-through the emergence of EGFR-T790M or MET gene amplification. | null | null | null |
1 | 0 | Biomarker | C0345967 | Malignant mesothelioma | disease | MM | 4803 | NGF | NGF | CTD_human | 25,162,674 | A specific pattern of cytokines were found highly expressed in Asb-workers: IFN-alpha (p<0.05), EOTAXIN (p<0.01), RANTES (p<0.001), and in MM patients: IL-12(p40), IL-3, IL-1 alpha, MCP-3, beta-NGF, TNF-beta, RANTES (p<0.001). | 0.200275 | A specific pattern of cytokines were found highly expressed in Asb-workers: IFN-alpha (p<0.05), EOTAXIN (p<0.01), RANTES (p<0.001), and in <span class="disease" id="25162674-8-139-141">MM</span> patients: IL-12(p40), IL-3, IL-1 alpha, MCP-3, beta-<span class="gene" id="25162674-8-194-197">NGF</span>, TNF-beta, RANTES (p<0.001). | CTD_human |
1 | 0 | Biomarker | C0020456 | Hyperglycemia | disease | hyperglycaemia | 2200 | FBN1 | fibrillin 1 | CTD_human | 20,836,762 | In the present study, we have investigated the hyperinsulinaemia/hyperglycaemia-induced epigenetic changes and alteration of Fbn1 (fibrillin 1) and Col3A1 (collagen type III ?1) gene expression. | 0.200275 | In the present study, we have investigated the hyperinsulinaemia/<span class="disease" id="20836762-2-65-79">hyperglycaemia</span>-induced epigenetic changes and alteration of <span class="gene" id="20836762-2-125-129">Fbn1</span> (<span class="gene" id="20836762-2-131-142">fibrillin 1</span>) and Col3A1 (collagen type III α1) gene expression. | CTD_human |
null | null | Negative | MESH:D009456 | null | null | Neurofibromatosis type 1 | 18015 | null | NF1 | null | 28,135,565 | UNASSIGNED: Neurofibromatosis type 1 (NF1) is a common neurogenetic disorder in which affected children and adults are predisposed to the development of benign and malignant nervous system tumors. | null | null | null |
null | null | Negative | MESH:D016553 | null | null | ITP | 1067445 | null | t=4.259 | null | 28,024,504 | RESULTS: Before treatment, the plasma HMGB1 level in ITP group was significantly higher than that in control group (t=4.259, P<0.01), while after treatment it significantly decreased and close to level in control group (t=1.267, P>0.05). | null | null | null |
null | null | Negative | MESH:D018205 | null | null | WAT | 24835 | null | TNF-a | null | 28,077,915 | In stressed rats (IS), fasting reduced visceral WAT TNF-a, subcutaneous WAT IL-1b, and plasma insulin and leptin. | null | null | null |
null | null | Negative | MESH:C535741 | null | null | oligosaccharides | 100532204 | null | milk | null | 28,139,923 | UNASSIGNED: Human milk oligosaccharides (OS) play an important role in protecting the neonate. | null | null | null |
1 | 0 | Biomarker | C0004509 | Azoospermia | disease | azoospermia | 596 | BCL2 | BCL2 | CTD_human | 20,610,805 | BCL2 Ala43Thr is a functional variant associated with protection against azoospermia in a Han-Chinese population. | 0.202682 | <span class="gene" id="20610805-0-0-4">BCL2</span> Ala43Thr is a functional variant associated with protection against <span class="disease" id="20610805-0-73-84">azoospermia</span> in a Han-Chinese population. | CTD_human |
1 | 0 | Biomarker | C0149521 | Pancreatitis, Chronic | disease | chronic pancreatitis | 5644 | PRSS1 | cationic trypsinogen | CTD_human | 18,206,817 | Mutations in the PRSS1 gene, encoding cationic trypsinogen, play a causative role in chronic pancreatitis. | 0.254182 | Mutations in the <span class="gene" id="18206817-6-17-22">PRSS1</span> gene, encoding <span class="gene" id="18206817-6-38-58">cationic trypsinogen</span>, play a causative role in <span class="disease" id="18206817-6-85-105">chronic pancreatitis</span>. | CTD_human |
1 | 0 | Biomarker | C3711376 | Isodicentric Chromosome 15 Syndrome | disease | IDIC-15 | 2562 | GABRB3 | GABRB3 | CTD_human | 23,663,378 | Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes. | 0.200275 | Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (<span class="disease" id="23663378-0-92-99">IDIC-15</span>) syndrome involving duplications of the <span class="gene" id="23663378-0-140-146">GABRB3</span>, GABRA5 and GABRG3 genes. | CTD_human |
13 | 0 | Therapeutic | C0028754 | Obesity | disease | obesity | 3952 | LEP | leptin | CTD_human | 25,551,525 | Biologically inactive leptin and early-onset extreme obesity. | 0.72 | Biologically inactive <span class="gene" id="25551525-0-22-28">leptin</span> and early-onset extreme <span class="disease" id="25551525-0-53-60">obesity</span>. | CTD_human;HPO |
1 | 0 | Biomarker | C0003123 | Anorexia | disease | anorexia | 1392 | CRH | Corticotropin-releasing factor | CTD_human | 16,420,149 | Corticotropin-releasing factor-1 receptors in the basolateral amygdala mediate stress-induced anorexia. | 0.200824 | <span class="gene" id="16420149-0-0-30">Corticotropin-releasing factor</span>-1 receptors in the basolateral amygdala mediate stress-induced <span class="disease" id="16420149-0-94-102">anorexia</span>. | CTD_human |
1 | 0 | Biomarker | C0010314 | Cri-du-Chat Syndrome | disease | Cri du chat syndrome | 7015 | TERT | telomerase reverse transcriptase | CTD_human | 12,629,597 | Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome. | 0.203557 | Deletion of the <span class="gene" id="12629597-0-16-48">telomerase reverse transcriptase</span> gene and haploinsufficiency of telomere maintenance in <span class="disease" id="12629597-0-104-124">Cri du chat syndrome</span>. | CTD_human |
null | null | Negative | MESH:D053632 | null | null | SCID | 2523 | null | HSC | null | 28,020,217 | CONCLUSIONS: Eltrombopag expanded HSC/HPC of CB in vitro, promoted human platelet and WBC proliferation/differentiation in NOD/SCID mice, and human HSC/HPC in mouse BM. | null | null | null |
null | null | Negative | MESH:D008133 | null | null | SPS | 365057 | null | ASK1 | null | 28,210,980 | Protein and mRNA expressions of IRE1a, ASK1, JNK, P38, CHOP, Bcl-2, and Bax in the control and SPS groups were detected via Western blot and RT-PCR, respectively. | null | null | null |
1 | 0 | Biomarker | C0031117 | Peripheral Neuropathy | group | peripheral neuropathy | 4644 | MYO5A | MYO5A | CTD_human | 20,864,405 | In late-onset bortezomib-induced peripheral neuropathy, the significant genes were SOD2 (upregulated by 1·18 times; p=9·6×10(-3)) and MYO5A (1·93 times; p=3·2×10(-2)), involved in development and function of the nervous system. | 0.200275 | In late-onset bortezomib-induced <span class="disease" id="20864405-11-33-54">peripheral neuropathy</span>, the significant genes were SOD2 (upregulated by 1·18 times; p=9·6×10(-3)) and <span class="gene" id="20864405-11-134-139">MYO5A</span> (1·93 times; p=3·2×10(-2)), involved in development and function of the nervous system. | CTD_human |
6 | 2 | Biomarker | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | type 2 diabetes | 169026 | SLC30A8 | SLC30A8 | CTD_human | 19,479,076 | A polymorphism in the SLC30A8 gene is associated with susceptibility to type 2 diabetes, although the molecular mechanism through which this phenotype is manifest is incompletely understood. | 0.301703 | A polymorphism in the <span class="gene" id="19479076-2-22-29">SLC30A8</span> gene is associated with susceptibility to <span class="disease" id="19479076-2-72-87">type 2 diabetes</span>, although the molecular mechanism through which this phenotype is manifest is incompletely understood. | CTD_human |
1 | 0 | Biomarker | C2931618 | Gestational trophoblastic disease | disease | gestational trophoblastic disease | 5460 | POU5F1 | Oct4 | CTD_human | 18,440,631 | Oct4 is epigenetically regulated by methylation in normal placenta and gestational trophoblastic disease. | 0.200275 | <span class="gene" id="18440631-0-0-4">Oct4</span> is epigenetically regulated by methylation in normal placenta and <span class="disease" id="18440631-0-71-104">gestational trophoblastic disease</span>. | CTD_human |
null | null | Negative | MESH:D015179 | null | null | colorectal cancer | 24525 | null | KRAS | null | 28,008,623 | BACKGROUND: While the significance of carcinoembryonic antigen (CEA), lactate dehydrogenase (LDH), and Kirsten rat sarcoma (KRAS) status as individual prognostic factors for patients with metastatic colorectal cancer has been addressed, the relationship and interdependence between these prognostic factors on survival is limited. | null | null | null |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 23394 | ADNP | ADNP | CTD_human | 24,531,329 | A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. | 0.201374 | A SWI/SNF-related <span class="disease" id="24531329-0-18-24">autism</span> syndrome caused by de novo mutations in <span class="gene" id="24531329-0-65-69">ADNP</span>. | CTD_human |
null | null | Negative | MESH:D008258 | null | null | WM | 2208 | null | CD23 | null | 28,014,496 | The expression of CD5, CD10, and CD23 in WM remains controversial, and confusion with other B-cell malignancies has often resulted. | null | null | null |
null | null | Negative | MESH:D008133 | null | null | SPS | 116554 | null | JNK | null | 28,210,980 | Protein and mRNA expressions of IRE1a, ASK1, JNK, P38, CHOP, Bcl-2, and Bax in the control and SPS groups were detected via Western blot and RT-PCR, respectively. | null | null | null |
null | null | Negative | MESH:D055370 | null | null | lung injury | 24494 | null | IL-1b | null | 28,076,507 | RESULTS:: Clinical scores, TNF-a, IL-1b, liver/kidney proof levels, and lung injury were significantly reduced in coconut water+NaCl 3%+simvastatin group treated rats, comparing with the other resuscitation treatments. | null | null | null |
null | null | Negative | MESH:C536987 | null | null | mitotic checkpoint complex | 991 | null | Cdc20 | null | 28,096,334 | When this checkpoint is active, a mitotic checkpoint complex (MCC), composed of the checkpoint proteins Mad2, BubR1, Bub3, and Cdc20, is assembled. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | biliary cancer | 963084 | null | CPT11 | null | 28,014,548 | This combination of CDDP and CPT11, considered to be active against biliary cancer (overall response was 37%) with acceptable toxicity, should be further assessed in the future trials. | null | null | null |
2 | 0 | Biomarker | C0015695 | Fatty Liver | disease | hepatic steatosis | 79661 | NEIL1 | neil1 | CTD_human | 21,285,402 | Following a 5-wk high-fat diet challenge, neil1(-/-) mice gained significantly more body weight than neil1(+/+) littermates and had increased body fat accumulation and moderate to severe hepatic steatosis. | 0.2 | Following a 5-wk high-fat diet challenge, <span class="gene" id="21285402-5-42-47">neil1</span>(-/-) mice gained significantly more body weight than <span class="gene" id="21285402-5-101-106">neil1</span>(+/+) littermates and had increased body fat accumulation and moderate to severe <span class="disease" id="21285402-5-187-204">hepatic steatosis</span>. | CTD_human |
1 | 0 | Biomarker | C1510586 | Autism Spectrum Disorders | disease | ASD | 54674 | LRRN3 | LRRN3 | CTD_human | 20,678,249 | Overall, our findings implicate the neuronal leucine-rich genes LRRN3 and LRRTM3 in ASD susceptibility. | 0.2 | Overall, our findings implicate the neuronal leucine-rich genes <span class="gene" id="20678249-8-64-69">LRRN3</span> and LRRTM3 in <span class="disease" id="20678249-8-84-87">ASD</span> susceptibility. | CTD_human |
null | null | Negative | MESH:D007022 | null | null | pulmonary and systemic arterial pressures | 19012 | null | mPAP | null | 28,165,252 | For acute studies, we monitored both mean pulmonary and systemic arterial pressures (mPAP and mSAP) for 2 to 6 h after a single dose of the plain drugs or formulations. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 111979 | null | EL4 | null | 28,112,593 | We determined the induction of NS3-specific cellular immunity by cytokine quantification, intracellular cytokine staining, and a cytotoxic T lymphocyte (CTL) assay targeting EL4 tumor cells expressing NS3/4A protein (EL4-NS3/4A). | null | null | null |
null | null | Negative | MESH:D009369 | null | null | cancer | 433759 | null | HDAC1 | null | 28,004,751 | Our results support that Daxx can act as a repressor in controlling HIF-1a/HDAC1/Slug-mediated cancer cell invasion and is a potential therapeutic target for inhibition of cancer metastasis. | null | null | null |
1 | 0 | Biomarker | C0018923 | Hemangiosarcoma | disease | angiosarcoma | 5335 | PLCG1 | PLCG1 | CTD_human | 24,633,157 | Recurrent PTPRB and PLCG1 mutations in angiosarcoma. | 0.201099 | Recurrent PTPRB and <span class="gene" id="24633157-0-20-25">PLCG1</span> mutations in <span class="disease" id="24633157-0-39-51">angiosarcoma</span>. | CTD_human |
null | null | Negative | MESH:D009369 | null | null | tumors | 15977 | null | IFN-b | null | 28,098,415 | First, we show that a single intracranial injection of AAV encoding human IFN-b eliminates invasive human GBM8 tumors and promotes long-term survival. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | cancer | 209011 | null | SIRT7 | null | 28,147,277 | In this study, we demonstrate that SIRT7 depletion in breast cancer cells results in Akt hyper-phosphorylation and increases cell survival following genotoxic stress. | null | null | null |
null | null | Negative | MESH:D007249 | null | null | inflammation | 16193 | null | IL-6 | null | 28,036,277 | By adopting a classic diethylnitrosamine (DEN)-induced murine HCC model, DJ-1 knockout (KO) mice displayed reduced tumorigenesis and cell proliferation, accompanied by decreased hepatic inflammation and IL-6/STAT3 activation. | null | null | null |
null | null | Negative | MESH:C536773 | null | null | PSS | 6351 | null | MIP-1b | null | 28,143,443 | In the HIV-infected PSS group (but not the HIV-infected LS or HIV-uninfected PSS groups) the IP-10, MIP-1b, IL-6 and IL-8 were raised compared to the controls. | null | null | null |
null | null | Negative | MESH:D011928 | null | null | Raynaud's phenomenon | 944749 | null | b=0.006 | null | 28,023,947 | Pts with Raynaud's phenomenon had a higher age-related IMT increase (Raynaud: b=0.12 [SE=0.004], P=0.009; no Raynaud: b=0.006 [SE=0.002], P=0.002). | null | null | null |
1 | 0 | Biomarker | C0017638 | Glioma | disease | gliomas | 23512 | SUZ12 | SUZ12 | CTD_human | 25,119,042 | Here we provide genomic, cellular, and mouse modelling data demonstrating that the polycomb group gene SUZ12 functions as tumour suppressor in PNS tumours, high-grade gliomas and melanomas by cooperating with mutations in NF1. | 0.2 | Here we provide genomic, cellular, and mouse modelling data demonstrating that the polycomb group gene <span class="gene" id="25119042-3-103-108">SUZ12</span> functions as tumour suppressor in PNS tumours, high-grade <span class="disease" id="25119042-3-167-174">gliomas</span> and melanomas by cooperating with mutations in NF1. | CTD_human |
2 | 0 | Biomarker | C2239176 | Liver carcinoma | disease | HCC | 6720 | SREBF1 | sterol regulatory element-binding protein 1 | CTD_human | 21,147,110 | Suppression of the genes adenosine triphosphate citrate lyase, acetyl-CoA carboxylase, fatty acid synthase, stearoyl-CoA desaturase 1, or sterol regulatory element-binding protein 1, which are involved in lipogenesis, reduced proliferation, and survival of HCC cell lines and AKT-dependent cell proliferation. | 0.204656 | Suppression of the genes adenosine triphosphate citrate lyase, acetyl-CoA carboxylase, fatty acid synthase, stearoyl-CoA desaturase 1, or <span class="gene" id="21147110-9-138-181">sterol regulatory element-binding protein 1</span>, which are involved in lipogenesis, reduced proliferation, and survival of <span class="disease" id="21147110-9-257-260">HCC</span> cell lines and AKT-dependent cell proliferation. | CTD_human |
1 | 0 | Biomarker | C0040034 | Thrombocytopenia | phenotype | thrombocytopenia | 4524 | MTHFR | MTHFR | CTD_human | 19,391,036 | Subjects with MTHFR polymorphism for A1298C (AC, CC) had significantly higher MTX levels at 48 h (p = 0.02), and had more grade III/IV anemia (p = 0.02), thrombocytopenia (p = 0.0001), elevated AST levels (p = 0.04) and frequent febrile neutropenic episodes (p = 0.004). | 0.207496 | Subjects with <span class="gene" id="19391036-6-14-19">MTHFR</span> polymorphism for A1298C (AC, CC) had significantly higher MTX levels at 48 h (p = 0.02), and had more grade III/IV anemia (p = 0.02), <span class="disease" id="19391036-6-154-170">thrombocytopenia</span> (p = 0.0001), elevated AST levels (p = 0.04) and frequent febrile neutropenic episodes (p = 0.004). | CTD_human |
null | null | Negative | MESH:D001008 | null | null | anxiety | 14652 | null | Glp1r | null | 28,053,040 | Finally, Glp1r knockdown reduced anxiety-like behavior, implicating PVN GLP-1 signaling in behavioral stress reactivity. | null | null | null |
11 | 0 | Biomarker | C0003469 | Anxiety Disorders | group | anxiety | 1392 | CRH | corticotropin-releasing hormone | CTD_human | 7,816,204 | The neurosteroid tetrahydroprogesterone counteracts corticotropin-releasing hormone-induced anxiety and alters the release and gene expression of corticotropin-releasing hormone in the rat hypothalamus. | 0.206868 | The neurosteroid tetrahydroprogesterone counteracts <span class="gene" id="7816204-0-52-83">corticotropin-releasing hormone</span>-induced <span class="disease" id="7816204-0-92-99">anxiety</span> and alters the release and gene expression of <span class="gene" id="7816204-0-146-177">corticotropin-releasing hormone</span> in the rat hypothalamus. | CTD_human |
1 | 0 | Biomarker | C0038525 | Subarachnoid Hemorrhage | disease | SAH | 1906 | EDN1 | ET1 | CTD_human | 8,587,695 | In the cerebrospinal fluid, SAH increased endothelin-1 (ET1) and big ET1 by 6 and 3.8 times, respectively; in the basilar artery, SAH increased ET1 concentration, big ET1 concentration, and ET-converting enzyme activity by 1.3, 2, and 2.7 times, respectively. | 0.204381 | In the cerebrospinal fluid, <span class="disease" id="8587695-8-28-31">SAH</span> increased <span class="gene" id="8587695-8-42-54">endothelin-1</span> (<span class="gene" id="8587695-8-56-59">ET1</span>) and big <span class="gene" id="8587695-8-69-72">ET1</span> by 6 and 3.8 times, respectively; in the basilar artery, <span class="disease" id="8587695-8-130-133">SAH</span> increased <span class="gene" id="8587695-8-144-147">ET1</span> concentration, big <span class="gene" id="8587695-8-167-170">ET1</span> concentration, and ET-converting enzyme activity by 1.3, 2, and 2.7 times, respectively. | CTD_human |
null | null | Negative | MESH:D007249 | null | null | inflammation | 11540 | null | Adora2a | null | 28,060,378 | In mice, mild, TLR4-dependent inflammation in the lungs and peritoneum caused a rapid increase in macrophage Adora2a and Adora2b levels, and CD73 was required to limit neutrophil influx in this peritonitis model. | null | null | null |
16 | 285 | Biomarker | C0013264 | Muscular Dystrophy, Duchenne | disease | DMD | 1756 | DMD | dystrophin | CTD_human | 24,349,043 | Duchenne Muscular Dystrophy (DMD) is a recessive X-linked genetic disease, caused by mutations in the gene encoding dystrophin. | 0.85109 | <span class="disease" id="24349043-1-0-27">Duchenne Muscular Dystrophy</span> (<span class="disease" id="24349043-1-29-32">DMD</span>) is a recessive X-linked genetic disease, caused by mutations in the gene encoding <span class="gene" id="24349043-1-116-126">dystrophin</span>. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C0005695 | Bladder Neoplasm | disease | bladder cancer | 5646 | PRSS3 | PRSS3 | CTD_human | 15,987,713 | We, therefore, examined, in a population-based study of human bladder cancer, the relationship between epigenetic silencing of three tumor suppressor genes, p16(INK4A), RASSF1A and PRSS3, and exposure to both tobacco and arsenic in bladder cancer. | 0.203557 | We, therefore, examined, in a population-based study of human <span class="disease" id="15987713-5-62-76">bladder cancer</span>, the relationship between epigenetic silencing of three tumor suppressor genes, p16(INK4A), RASSF1A and <span class="gene" id="15987713-5-181-186">PRSS3</span>, and exposure to both tobacco and arsenic in <span class="disease" id="15987713-5-232-246">bladder cancer</span>. | CTD_human |
null | null | Negative | MESH:D001943 | null | null | breast cancer | 403787 | null | S100A4 | null | 28,074,628 | UNASSIGNED: In breast cancer research S100A4-positive tumour-associated stromal cells are assumed as primary source of Tenascin C (TNC) in the metastatic environment. | null | null | null |
24 | 0 | Biomarker | C0002736 | Amyotrophic Lateral Sclerosis | disease | ALS | 6647 | SOD1 | SOD-1 | CTD_human | 9,065,559 | A predilection for disease onset in the lower limbs appears to be a distinguishing feature of familial ALS with SOD-1 mutations, and accords with findings in transgenic mouse models. | 0.798512 | A predilection for disease onset in the lower limbs appears to be a distinguishing feature of familial <span class="disease" id="9065559-6-103-106">ALS</span> with <span class="gene" id="9065559-6-112-117">SOD-1</span> mutations, and accords with findings in transgenic mouse models. | CTD_human;HPO;ORPHANET |
null | null | Negative | MESH:D040181 | null | null | X-linked recessive hypomyelination disorder | 5354 | null | proteolipid protein 1 | null | 28,101,371 | UNASSIGNED: Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelination disorder caused by mutations in the proteolipid protein 1 gene (PLP1) located on chromosome Xq22. | null | null | null |
null | null | Negative | MESH:D004194 | null | null | Glial hypertrophy | 42549 | null | insulin | null | 28,019,653 | Glial hypertrophy is phenocopied when overexpressing gain-of-function mutants of the Drosophila insulin receptor (InR) and the FGFR homolog Heartless (Htl) in wild type SPG, and is suppressed by inhibiting Htl and InR activity in egh. | null | null | null |
null | null | Negative | MESH:D007022 | null | null | hypotension | 100188846 | null | AIS 5 | null | 28,188,356 | Stepwise logistic regression analysis identified age >= 65 years, hypotension on admission, AIS 4 and AIS 5 as independent predictors for mortality. | null | null | null |
1 | 0 | Biomarker | C0014859 | Esophageal Neoplasms | group | esophageal cancer | 5243 | ABCB1 | ABCB1 | CTD_human | 21,332,314 | Impact of ABCB1 C3435T polymorphism on lymph node regression in multimodality treatment of locally advanced esophageal cancer. | 0.201648 | Impact of <span class="gene" id="21332314-0-10-15">ABCB1</span> C3435T polymorphism on lymph node regression in multimodality treatment of locally advanced <span class="disease" id="21332314-0-108-125">esophageal cancer</span>. | CTD_human |
1 | 0 | Biomarker | C0019112 | Hemorrhoids | disease | hemorrhoids | 5444 | PON1 | PON1 | CTD_human | 19,022,366 | The PON1 Q/R polymorphism was found to have significant association with hypertension (p=0.046) and chronic constipation (p=0.028) whereas, the L/M polymorphism, with diabetes (p=0.036), arteritis (trend p=0.022) and hemorrhoids (trend p=0.027). | 0.200275 | The <span class="gene" id="19022366-7-4-8">PON1</span> Q/R polymorphism was found to have significant association with hypertension (p=0.046) and chronic constipation (p=0.028) whereas, the L/M polymorphism, with diabetes (p=0.036), arteritis (trend p=0.022) and <span class="disease" id="19022366-7-217-228">hemorrhoids</span> (trend p=0.027). | CTD_human |
1 | 0 | Biomarker | C0002878 | Anemia, Hemolytic | disease | hemolytic anemia | 2729 | GCLC | gamma-glutamylcysteine synthetase | CTD_human | 10,515,893 | A patient with hemolytic anemia and low red blood cell glutathione levels was found to have a deficiency of gamma-glutamylcysteine synthetase activity. | 0.400824 | A patient with <span class="disease" id="10515893-3-15-31">hemolytic anemia</span> and low red blood cell glutathione levels was found to have a deficiency of <span class="gene" id="10515893-3-108-141">gamma-glutamylcysteine synthetase</span> activity. | CTD_human;HPO |
1 | 0 | Biomarker | C0012236 | DiGeorge Syndrome | disease | velo-cardio-facial syndrome | 1312 | COMT | catechol-O-methyltransferase | CTD_human | 8,886,163 | Association of codon 108/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome. | 0.436064 | Association of codon 108/158 <span class="gene" id="8886163-0-29-57">catechol-O-methyltransferase</span> gene polymorphism with the psychiatric manifestations of <span class="disease" id="8886163-0-115-142">velo-cardio-facial syndrome</span>. | CTD_human;ORPHANET |
1 | 0 | Biomarker | C0020452 | Hyperemia | disease | hyperemia | 183 | AGT | angiotensin II | CTD_human | 15,815,331 | The unanticipated interaction of angiotensin II and isoflurane producing a sustained cerebral hyperemia suggests that previous studies that used angiotensin II to support MABP during isoflurane may have reported the effects of angiotensin II in addition to or rather than the effects of isoflurane. | 0.2 | The unanticipated interaction of <span class="gene" id="15815331-10-33-47">angiotensin II</span> and isoflurane producing a sustained cerebral <span class="disease" id="15815331-10-94-103">hyperemia</span> suggests that previous studies that used <span class="gene" id="15815331-10-145-159">angiotensin II</span> to support MABP during isoflurane may have reported the effects of <span class="gene" id="15815331-10-227-241">angiotensin II</span> in addition to or rather than the effects of isoflurane. | CTD_human |
null | null | Negative | MESH:D008080 | null | null | liposarcoma | 17246 | null | murine double minute 2 | null | 28,155,209 | We therefore wished to begin to explore this idea by evaluating atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDL) cells, because murine double minute 2 (MDM2) gene amplification, which leads to p53 hypofunction, is found in almost all ALT/WDLs. | null | null | null |
2 | 6 | Biomarker | C0265246 | Townes syndrome | disease | Townes-Brocks syndrome | 6299 | SALL1 | SALL1 | CTD_human | 9,425,907 | Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. | 0.488242 | Mutations in the <span class="gene" id="9425907-0-17-22">SALL1</span> putative transcription factor gene cause <span class="disease" id="9425907-0-64-86">Townes-Brocks syndrome</span>. | CTD_human;ORPHANET |
1 | 0 | Biomarker | C0001418 | Adenocarcinoma | group | adenocarcinomas | 9420 | CYP7B1 | CYP7B1 | CTD_human | 17,639,508 | The immunohistochemical results demonstrate that high expression of CYP7B1 protein occurs in high-grade prostatic intraepithelial neoplasia (PIN) and adenocarcinomas. | 0.200275 | The immunohistochemical results demonstrate that high expression of <span class="gene" id="17639508-6-68-74">CYP7B1</span> protein occurs in high-grade prostatic intraepithelial neoplasia (PIN) and <span class="disease" id="17639508-6-150-165">adenocarcinomas</span>. | CTD_human |
null | null | Negative | MESH:D030342 | null | null | oculomotor disorders | 4179 | null | MCP | null | 28,072,384 | A significant correlation was found between MCP mean FA and total ataxia score (R=-0.7, p=0.03), and subscores for kinetic functions (R=-0.74, p=0.03) and oculomotor disorders (R=-0.70, p=0.04). | null | null | null |
4 | 0 | Biomarker | C1319853 | Asthma, Aspirin-Induced | disease | aspirin-induced asthma | 4056 | LTC4S | Leukotriene C4 synthase | CTD_human | 9,393,345 | Leukotriene C4 synthase promoter polymorphism and risk of aspirin-induced asthma. | 0.206462 | <span class="gene" id="9393345-0-0-23">Leukotriene C4 synthase</span> promoter polymorphism and risk of <span class="disease" id="9393345-0-58-80">aspirin-induced asthma</span>. | CTD_human |
4 | 0 | Biomarker | C0271694 | Familial partial lipodystrophy | disease | familial partial lipodystrophy | 4000 | LMNA | LMNA | CTD_human | 19,793,595 | Sequencing of candidate genes LMNA, PPARG, AKT2, caveolin-1, as well as the PPARG4 promoter gene, which are known to be associated with familial partial lipodystrophy, revealed no genetic abnormalities, suggesting that this case may involve a novel gene. | 0.238599 | Sequencing of candidate genes <span class="gene" id="19793595-4-30-34">LMNA</span>, PPARG, AKT2, caveolin-1, as well as the PPARG4 promoter gene, which are known to be associated with <span class="disease" id="19793595-4-136-166">familial partial lipodystrophy</span>, revealed no genetic abnormalities, suggesting that this case may involve a novel gene. | CTD_human |
1 | 0 | Therapeutic | C0007131 | Non-Small Cell Lung Carcinoma | disease | nonsmall cell lung cancer | 5744 | PTHLH | Parathyroid hormone-related protein | CTD_human | 17,676,588 | Parathyroid hormone-related protein varies with sex and androgen status in nonsmall cell lung cancer. | 0.200549 | <span class="gene" id="17676588-0-0-35">Parathyroid hormone-related protein</span> varies with sex and androgen status in <span class="disease" id="17676588-0-75-100">nonsmall cell lung cancer</span>. | CTD_human |
1 | 0 | Biomarker | C0025500 | Mesothelioma | disease | mesothelioma | 5154 | PDGFA | PDGF-A | CTD_human | 11,415,934 | Our data indicate, surprisingly, that for mesothelioma cells in vitro, high-level activation of a PDGF-A-PDGF receptor loop is antiproliferative whereas abrogation of PDGF-A expression stimulates growth. | 0.200275 | Our data indicate, surprisingly, that for <span class="disease" id="11415934-6-42-54">mesothelioma</span> cells in vitro, high-level activation of a <span class="gene" id="11415934-6-98-104">PDGF-A</span>-PDGF receptor loop is antiproliferative whereas abrogation of <span class="gene" id="11415934-6-167-173">PDGF-A</span> expression stimulates growth. | CTD_human |
2 | 0 | Biomarker | C0027794 | Neural Tube Defects | group | neural tube defects | 81839 | VANGL1 | VANGL1 | CTD_human | 19,319,979 | Novel mutations in VANGL1 in neural tube defects. | 0.20488 | Novel mutations in <span class="gene" id="19319979-0-19-25">VANGL1</span> in <span class="disease" id="19319979-0-29-48">neural tube defects</span>. | CTD_human |
null | null | Negative | MESH:D012175 | null | null | retinoblastoma | 1674 | null | desmin | 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 |
null | null | Negative | MESH:C536394 | null | null | NHC | 717 | null | CO2 | null | 28,067,512 | The current study shows that this solvent effect is general across a wide range of NHC complexes with CO2. | null | null | null |
null | null | Negative | MESH:D024801 | null | null | tauopathies | 23435 | null | TDP-43 | null | 28,062,563 | The most common neurodegenerative disorders are amyloidoses, tauopathies, a-synucleinopathies, and TDP-43 proteinopathies. | null | null | null |
null | null | Negative | MESH:D009102 | null | null | multiple organ system dysfunction | 4961449 | null | interleukin-6 | null | 28,087,540 | Human herpesvirus-8 (HHV-8)-negative, idiopathic multicentric Castleman disease (iMCD) is a rare and life-threatening disorder involving systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6. | null | null | null |
null | null | Negative | MESH:D003920 | null | null | diabetes | 404677 | null | CIMT | null | 28,208,908 | We also tried to compare and correlate the changes in CIMT if any, among the study group with relation to family history of diabetes and hypertension. | null | null | null |
null | null | Negative | MESH:D015458 | null | null | T cell leukemia | 29072 | null | SET-2 | null | 28,022,752 | METHODS: The in vitro activity of BSK805, a new JAK II inhibitor (Novartis Pharmaceuticals), was analyzed in 10 hematopoietic cell lines, including 5 BCR-ABL positive (K-562, KCL-22, KU812, Lama-87, BV173), 4 JAK II V617F positive (CHRF-288, SET-2, UKE-1, HEL) and the T cell leukemia line Jurkat. | null | null | null |
1 | 0 | Therapeutic | C0243026 | Sepsis | disease | septicemia | 1440 | CSF3 | granulocyte colony-stimulating factor | CTD_human | 17,505,274 | In those patients who survive the initial phase of poisoning, filgrastim (granulocyte colony-stimulating factor) offers an effective method of treating pancytopenia and preventing overwhelming septicemia. | 0.208213 | In those patients who survive the initial phase of poisoning, <span class="gene" id="17505274-7-62-72">filgrastim</span> (<span class="gene" id="17505274-7-74-111">granulocyte colony-stimulating factor</span>) offers an effective method of treating pancytopenia and preventing overwhelming <span class="disease" id="17505274-7-193-203">septicemia</span>. | CTD_human |
2 | 0 | Biomarker | C0020429 | Hyperalgesia | phenotype | hyperalgesia | 3586 | IL10 | interleukin-10 | CTD_human | 7,582,491 | Cytokine-mediated inflammatory hyperalgesia limited by interleukin-10. | 0.28 | Cytokine-mediated inflammatory <span class="disease" id="7582491-0-31-43">hyperalgesia</span> limited by <span class="gene" id="7582491-0-55-69">interleukin-10</span>. | CTD_human |
3 | 0 | Therapeutic | C0036572 | Seizures | phenotype | convulsions | 590 | BCHE | BChE | CTD_human | 20,971,807 | Pretreatment with the BChE mutant (i.e., 1 min before cocaine administration) dose-dependently protected mice against cocaine-induced convulsions and lethality. | 0.200549 | Pretreatment with the <span class="gene" id="20971807-6-22-26">BChE</span> mutant (i.e., 1 min before cocaine administration) dose-dependently protected mice against cocaine-induced <span class="disease" id="20971807-6-134-145">convulsions</span> and lethality. | CTD_human |
null | null | Negative | MESH:C536528 | null | null | cardiorespiratory condition | 3486 | null | IGFBP-3 | null | 28,011,098 | The body composition and cardiorespiratory condition of the swimmers did not vary significantly throughout the season, exhibiting behaviour independent of IGF-I or IGFBP-3. | null | null | null |
1 | 0 | Biomarker | C0033860 | Psoriasis | disease | psoriasis | 29785 | CYP2S1 | CYP2S1 | CTD_human | 12,711,469 | Cutaneous expression of cytochrome P450 CYP2S1: individuality in regulation by therapeutic agents for psoriasis and other skin diseases. | 0.200275 | Cutaneous expression of cytochrome P450 <span class="gene" id="12711469-0-40-46">CYP2S1</span>: individuality in regulation by therapeutic agents for <span class="disease" id="12711469-0-102-111">psoriasis</span> and other skin diseases. | CTD_human |
1 | 1 | Biomarker | C0023343 | Leprosy | disease | leprosy | 55509 | BATF3 | BATF3 | CTD_human | 25,642,632 | Besides confirming all previously published loci, we discovered six new susceptibility loci, and further gene prioritization analysis of these loci implicated BATF3, CCDC88B and CIITA-SOCS1 as new susceptibility genes for leprosy. | 0.200275 | Besides confirming all previously published loci, we discovered six new susceptibility loci, and further gene prioritization analysis of these loci implicated <span class="gene" id="25642632-4-159-164">BATF3</span>, CCDC88B and CIITA-SOCS1 as new susceptibility genes for <span class="disease" id="25642632-4-222-229">leprosy</span>. | CTD_human |
1 | 0 | Biomarker | C0028754 | Obesity | disease | Obese | 3667 | IRS1 | Irs1 | CTD_human | 23,954,404 | Obese mouse ovaries had decreased Irs1, Foxo3a, Cyp2e1, MiR-103, and MiR-21 but increased Kitlg, Akt1, and miR-184 levels relative to lean littermates. | 0.299518 | <span class="disease" id="23954404-4-0-5">Obese</span> mouse ovaries had decreased <span class="gene" id="23954404-4-34-38">Irs1</span>, Foxo3a, Cyp2e1, MiR-103, and MiR-21 but increased Kitlg, Akt1, and miR-184 levels relative to lean littermates. | CTD_human |
null | null | Negative | MESH:D003711 | null | null | damage, myelin impairment | 83765 | null | Nogo-A | null | 28,090,244 | Here, we explored the patterns of microglial activation, astrocytosis, oligodendrocyte damage, myelin impairment, and Nogo-A immunoreactivity between 3 and 30 postlesion days (PLDs) after experimental striatal stroke in adult rats induced by microinjections of endothelin-1 (ET-1). | null | null | null |
null | null | Negative | MESH:D054221 | null | null | MDS | 3563 | null | CD123 | null | 28,159,737 | Overexpression of several markers such as interleukin-1 (IL-1) receptor accessory protein (IL1RAP), CD99, T-cell immunoglobulin mucin-3, and CD123 have begun to differentiate MDS HSPCs from healthy counterparts. | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumors | 338399 | null | PS 1 | null | 28,022,538 | As of January 20, 2011, 48 pts (22 male; median age 60.5 yrs, ECOG PS 0 [N=11], PS 1 [N=36], PS 2 [N=1]) with solid tumors were enrolled. | null | null | null |
1 | 0 | Biomarker | C0011849 | Diabetes Mellitus | group | Diabetes | 2335 | FN1 | fibronectin | CTD_human | 20,551,625 | Diabetes was associated with increasing renal fibronectin and type IV collagen protein expression, with the combination regimen resulting in the highest decrease in extracellular matrix accumulation. | 0.20467 | <span class="disease" id="20551625-7-0-8">Diabetes</span> was associated with increasing renal <span class="gene" id="20551625-7-46-57">fibronectin</span> and type IV collagen protein expression, with the combination regimen resulting in the highest decrease in extracellular matrix accumulation. | CTD_human |
64 | 0 | Biomarker | C0002871 | Anemia | disease | anemia | 2056 | EPO | Erythropoietin | CTD_human | 11,245,434 | Erythropoietin restores the anemia-induced reduction in cyclophosphamide cytotoxicity in rat tumors. | 0.24092 | <span class="gene" id="11245434-0-0-14">Erythropoietin</span> restores the <span class="disease" id="11245434-0-28-34">anemia</span>-induced reduction in cyclophosphamide cytotoxicity in rat tumors. | CTD_human |
69 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 183 | AGT | angiotensinogen | CTD_human | 1,394,429 | Molecular basis of human hypertension: role of angiotensinogen. | 0.52 | Molecular basis of human <span class="disease" id="1394429-0-25-37">hypertension</span>: role of <span class="gene" id="1394429-0-47-62">angiotensinogen</span>. | CTD_human |
1 | 0 | Biomarker | C0026848 | Myopathy | group | myopathy | 4128 | MAOA | MAO-A | CTD_human | 15,946,989 | We suggest that MAO-A-mediated oxidative stress can lead to cell damage, representing a novel pathogenetic mechanism for glucocorticoid-induced myopathy and a potential target for therapeutic intervention. | 0.200275 | We suggest that <span class="gene" id="15946989-9-16-21">MAO-A</span>-mediated oxidative stress can lead to cell damage, representing a novel pathogenetic mechanism for glucocorticoid-induced <span class="disease" id="15946989-9-144-152">myopathy</span> and a potential target for therapeutic intervention. | CTD_human |
null | null | Negative | MESH:D017564 | null | null | RP | 727897 | null | MUC5B | null | 28,189,065 | MUC5B rs35705950 was genotyped, and Kaplan-Meier and Cox regression analyses were used to evaluate associations between MUC5B rs35705950 and the risk of RP or OS. | null | null | null |
1 | 0 | Therapeutic | C0022658 | Kidney Diseases | group | nephropathy | 2056 | EPO | EPO | CTD_human | 20,606,417 | rhEPO is involved in the pathophysiology of DXR nephropathy. rhEPO mitigated elevated plasma phosphate concentrations in an experimental model of chronic kidney disease via the expression of Klotho. | 0.201923 | rh<span class="gene" id="20606417-12-2-5">EPO</span> is involved in the pathophysiology of DXR <span class="disease" id="20606417-12-48-59">nephropathy</span>. rhEPO mitigated elevated plasma phosphate concentrations in an experimental model of chronic kidney disease via the expression of Klotho. | CTD_human |
3 | 0 | Biomarker | C0038358 | Gastric ulcer | disease | gastric ulcers | 4843 | NOS2 | NOS | CTD_human | 12,481,160 | We investigated the effects of COX and NOS inhibitors on the healing of duodenal ulcers, in comparison with gastric ulcers, in rats. | 0.202733 | We investigated the effects of COX and <span class="gene" id="12481160-2-39-42">NOS</span> inhibitors on the healing of duodenal ulcers, in comparison with <span class="disease" id="12481160-2-108-122">gastric ulcers</span>, in rats. | CTD_human |
2 | 0 | Biomarker | C0001430 | Adenoma | group | adenomas | 476 | ATP1A1 | ATP1A1 | CTD_human | 23,416,519 | Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. | 0.200824 | Somatic mutations in <span class="gene" id="23416519-0-21-27">ATP1A1</span> and ATP2B3 lead to aldosterone-producing <span class="disease" id="23416519-0-69-77">adenomas</span> and secondary hypertension. | CTD_human |
1 | 0 | Biomarker | C0023903 | Liver neoplasms | group | liver tumors | 10 | NAT2 | NAT2 | CTD_human | 19,666,988 | Our results are consistent with the tumor target specificity of PhIP and MeIQx and with increased susceptibility to MeIQx-induced liver tumors in rapid NAT2 acetylators. | 0.209628 | Our results are consistent with the tumor target specificity of PhIP and MeIQx and with increased susceptibility to MeIQx-induced <span class="disease" id="19666988-9-130-142">liver tumors</span> in rapid <span class="gene" id="19666988-9-152-156">NAT2</span> acetylators. | CTD_human |
1 | 0 | Biomarker | C0344523 | Cataract, congenital, cerulean type 1 | disease | cerulean cataract | 1415 | CRYBB2 | CRYBB2 | CTD_human | 9,158,139 | Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. | 0.600549 | Autosomal dominant <span class="disease" id="9158139-0-19-36">cerulean cataract</span> is associated with a chain termination mutation in the human beta-crystallin gene <span class="gene" id="9158139-0-119-125">CRYBB2</span>. | CTD_human;HPO;ORPHANET |
1 | 0 | Biomarker | C0024121 | Lung Neoplasms | group | lung tumor | 345 | APOC3 | apolipoprotein-C3 | CTD_human | 19,180,532 | Notably, expression of alpha-2-macroglobulin, transthyretin, alpha-1-antitrypsin, and properdin was in common in different lung tumor models, but regulation of orosomucoid-8, apolipoprotein-A1, apolipoprotein-C3, apolipoprotein-E, glutathione peroxidase-3, plasma retinol-binding protein, and serum amyloid P component was unique when the serum proteomes of c-myc and c-raf tumor bearing mice were compared. | 0.2 | Notably, expression of alpha-2-macroglobulin, transthyretin, alpha-1-antitrypsin, and properdin was in common in different <span class="disease" id="19180532-8-123-133">lung tumor</span> models, but regulation of orosomucoid-8, apolipoprotein-A1, <span class="gene" id="19180532-8-194-211">apolipoprotein-C3</span>, apolipoprotein-E, glutathione peroxidase-3, plasma retinol-binding protein, and serum amyloid P component was unique when the serum proteomes of c-myc and c-raf tumor bearing mice were compared. | CTD_human |
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