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1 | 0 | Biomarker | C0025202 | melanoma | disease | melanoma | 6392 | SDHD | SDHD | CTD_human | 25,261,935 | SDHD promoter mutations are frequent in melanoma and are associated with reduced gene expression and poor prognosis. | 0.200549 | <span class="gene" id="25261935-7-0-4">SDHD</span> promoter mutations are frequent in <span class="disease" id="25261935-7-40-48">melanoma</span> and are associated with reduced gene expression and poor prognosis. | CTD_human |
1 | 0 | Biomarker | C0400966 | Non-alcoholic Fatty Liver Disease | disease | NAFLD | 2950 | GSTP1 | GSTP1 | CTD_human | 23,643,483 | This is the first report to show that the combination of current-smoking and harboring high-risk GSTM1, GSTP1 and/or GSTA1 genotypes is interactively associated with the risk of NAFLD. | 0.200824 | This is the first report to show that the combination of current-smoking and harboring high-risk GSTM1, <span class="gene" id="23643483-8-104-109">GSTP1</span> and/or GSTA1 genotypes is interactively associated with the risk of <span class="disease" id="23643483-8-178-183">NAFLD</span>. | CTD_human |
null | null | Negative | MESH:D006009 | null | null | AMD | 7852 | null | CXCR4 | null | 28,134,535 | An HPMA-based polymeric prodrug of a CXCR4 antagonist, AMD3465 (P-SS-AMD), was developed as a dual-function carrier of therapeutic miRNA. | null | null | null |
null | null | Negative | MESH:D001943 | null | null | breast cancer | 13649 | null | epidermal growth factor receptor | null | 28,178,603 | Here, we show that exosomes can efficiently deliver microRNA (miRNA) to epidermal growth factor receptor (EGFR)-expressing breast cancer cells. | null | null | null |
null | null | Negative | MESH:D008477 | null | null | mediastinal disease | 51371 | null | POMP | null | 28,020,187 | Pts with mediastinal disease received radiation therapy followed by 24 cycles of vincristine, prednisone, mercaptopurine, methotrexate (POMP maintenance). | null | null | null |
3 | 0 | Biomarker | C0008370 | Cholestasis | disease | cholestasis | 1244 | ABCC2 | Mrp2 | CTD_human | 22,521,610 | ANIT-induced biliary injury is a commonly used model of experimental cholestasis and has been shown to be dependent upon Mrp2-mediated efflux of an ANIT glutathione conjugate that selectively injures biliary epithelial cells. | 0.282198 | ANIT-induced biliary injury is a commonly used model of experimental <span class="disease" id="22521610-6-69-80">cholestasis</span> and has been shown to be dependent upon <span class="gene" id="22521610-6-121-125">Mrp2</span>-mediated efflux of an ANIT glutathione conjugate that selectively injures biliary epithelial cells. | CTD_human |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autistic | 5443 | POMC | pro-opiomelanocortin | CTD_human | 8,570,775 | These results suggest a possible linkage between abnormal plasma chemistries, especially those related to the pro-opiomelanocortin system, and autistic symptoms. | 0.201099 | These results suggest a possible linkage between abnormal plasma chemistries, especially those related to the <span class="gene" id="8570775-8-110-130">pro-opiomelanocortin</span> system, and <span class="disease" id="8570775-8-143-151">autistic</span> symptoms. | CTD_human |
1 | 0 | Biomarker | C0023434 | Chronic Lymphocytic Leukemia | disease | chronic lymphocytic leukemia | 23451 | SF3B1 | SF3B1 | CTD_human | 22,158,541 | Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia. | 0.208517 | Exome sequencing identifies recurrent mutations of the splicing factor <span class="gene" id="22158541-0-71-76">SF3B1</span> gene in <span class="disease" id="22158541-0-85-113">chronic lymphocytic leukemia</span>. | CTD_human |
null | null | Negative | MESH:C536415 | null | null | AR | 22371 | null | vWF | null | 28,057,038 | Changes in the above molecules were detected upon inhibiting NOX4 or AR, and serum H2O2 and vWF levels were measured in vivo. | null | null | null |
6 | 24 | Biomarker | C0403814 | Congenital bilateral aplasia of vas deferens | disease | CAVD | 1080 | CFTR | CFTR | CTD_human | 10,875,853 | Congenital absence of the vas deferens (CAVD) is a heterogeneous disorder, largely due to mutations in the cystic fibrosis (CFTR) gene. | 0.711528 | Congenital absence of the vas deferens (<span class="disease" id="10875853-1-40-44">CAVD</span>) is a heterogeneous disorder, largely due to mutations in the cystic fibrosis (<span class="gene" id="10875853-1-124-128">CFTR</span>) gene. | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:C536528 | null | null | LPS | 3596 | null | IL-13 | null | 28,212,865 | CKIP-1 expression was strongly induced by pro-inflammatory M1 stimuli (LPS and IFN-y) and robustly suppressed by M2 stimuli (IL-4 and IL-13) in human and murine macrophage. | null | null | null |
null | null | Negative | MESH:D057180 | null | null | frontotemporal dementia | 23435 | null | TDP-43 | null | 28,007,900 | This finding prompted us to re-analyze published datasets from a recent report on TDP-43, an RBP implicated in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), as it was demonstrated that TDP-43 represses cryptic exon splicing to promote cell survival. | null | null | null |
2 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 4897 | NRCAM | NRCAM | CTD_human | 18,664,314 | Association of the neuronal cell adhesion molecule (NRCAM) gene variants with autism. | 0.286188 | Association of the <span class="gene" id="18664314-0-19-50">neuronal cell adhesion molecule</span> (<span class="gene" id="18664314-0-52-57">NRCAM</span>) gene variants with <span class="disease" id="18664314-0-78-84">autism</span>. | CTD_human |
null | null | Negative | MESH:D011471 | null | null | PCa | 381379 | null | Med19 | null | 28,125,713 | However, the roles of Med19 in PCa are still obscure. | null | null | null |
1 | 0 | Biomarker | C0034069 | Pulmonary Fibrosis | disease | pulmonary fibrosis | 3146 | HMGB1 | HMGB1 | CTD_human | 27,616,297 | Mounting evidence indicates that high-mobility group box 1 (HMGB1) is involved in pulmonary fibrosis. | 0.203008 | Mounting evidence indicates that <span class="gene" id="27616297-2-33-58">high-mobility group box 1</span> (<span class="gene" id="27616297-2-60-65">HMGB1</span>) is involved in <span class="disease" id="27616297-2-82-100">pulmonary fibrosis</span>. | CTD_human |
null | null | Negative | MESH:D001249 | null | null | asthma | 260431 | null | COPD | null | 28,100,233 | COPD and asthma are important chronic inflammatory disorders with a high associated morbidity. | null | null | null |
1 | 0 | Biomarker | C0026764 | Multiple Myeloma | disease | MM | 2052 | EPHX1 | microsomal epoxide hydrolase | CTD_human | 16,949,155 | Individuals who carried polymorphisms for GSTT1 null and/or high activity microsomal epoxide hydrolase (mEH 113YY+139HR or 113YY+139RR or 113YH+139RR) and/or low activity NAD(P)H:quinone oxidoreductase 1 (NQO1 187PS/SS) were 1.65, 2.49 and 13 times more likely to have MM (P(trend)=0.001). | 0.205638 | Individuals who carried polymorphisms for GSTT1 null and/or high activity <span class="gene" id="16949155-3-74-102">microsomal epoxide hydrolase</span> (mEH 113YY+139HR or 113YY+139RR or 113YH+139RR) and/or low activity NAD(P)H:quinone oxidoreductase 1 (NQO1 187PS/SS) were 1.65, 2.49 and 13 times more likely to have <span class="disease" id="16949155-3-269-271">MM</span> (P(trend)=0.001). | CTD_human |
1 | 0 | Biomarker | C3494422 | Retrognathia | disease | retrognathia | 5396 | PRRX1 | PRRX1 | CTD_human | 23,444,262 | We studied the PRRX1 gene in a non-consanguineous Indonesian female infant who was diagnosed prenatally with severe retrognathia (bilateral Pruzansky type III). | 0.200275 | We studied the <span class="gene" id="23444262-2-15-20">PRRX1</span> gene in a non-consanguineous Indonesian female infant who was diagnosed prenatally with severe <span class="disease" id="23444262-2-116-128">retrognathia</span> (bilateral Pruzansky type III). | CTD_human |
3 | 0 | Biomarker | C0025202 | melanoma | disease | melanoma | 2194 | FASN | Fatty acid synthase | CTD_human | 18,770,866 | Fatty acid synthase inhibition with Orlistat promotes apoptosis and reduces cell growth and lymph node metastasis in a mouse melanoma model. | 0.200549 | <span class="gene" id="18770866-0-0-19">Fatty acid synthase</span> inhibition with Orlistat promotes apoptosis and reduces cell growth and lymph node metastasis in a mouse <span class="disease" id="18770866-0-125-133">melanoma</span> model. | CTD_human |
3 | 0 | Biomarker | C0553580 | Ewings sarcoma | disease | Ewing sarcoma | 2313 | FLI1 | FLI1 | CTD_human | 26,214,589 | Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite. | 0.421913 | Chimeric EWSR1-<span class="gene" id="26214589-0-15-19">FLI1</span> regulates the <span class="disease" id="26214589-0-34-47">Ewing sarcoma</span> susceptibility gene EGR2 via a GGAA microsatellite. | CTD_human;ORPHANET |
null | null | Negative | OMIM:135300 | null | null | HGF | 7422 | null | VEGF | null | 28,136,573 | METHODS: The dtectDx Breast test measures the concentrations of IL-8, IL-12, VEGF, CEA, and HGF via ELISA. | null | null | null |
null | null | Negative | MESH:D020241 | null | null | WD | 24088;142980;21898 | null | TLR2, 4 | null | 28,094,890 | C57BL/6J mice deficient for TLR2, 4, 9, or NOD2 and wild-type (WT) were fed a WD or a standard diet for 3 months. | null | null | null |
null | null | Negative | MESH:D003920 | null | null | diabetic | 24835 | null | TNF-a | null | 28,054,921 | The messenger ribonucleic acid expression of TNF-a and COX- 2 in DEP-treated fibroblasts increased in both normal and diabetic fibroblasts, while IL-6 expression remained unchanged. | null | null | null |
6 | 14 | Biomarker | C0175701 | Aarskog syndrome | disease | Aarskog-Scott syndrome | 2245 | FGD1 | FGD1 | CTD_human | 10,930,571 | A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). | 0.607967 | A mutation in the pleckstrin homology (PH) domain of the <span class="gene" id="10930571-0-57-61">FGD1</span> gene in an Italian family with <span class="disease" id="10930571-0-93-115">faciogenital dysplasia</span> (<span class="disease" id="10930571-0-117-139">Aarskog-Scott syndrome</span>). | CTD_human;ORPHANET;UNIPROT |
null | null | Negative | MESH:D007249 | null | null | inflammation | 25107 | null | Avpr1a | null | 28,105,924 | Four of them (Avpr1a, Hsd11b2, Agt, Ephx2) may provoke the hypertension development, and Mpo may contribute to insulin resistance and inflammation in the ISIAH rats. | null | null | null |
1 | 0 | Biomarker | C0014175 | Endometriosis | disease | endometriosis | 5076 | PAX2 | Paired-box gene 2 | CTD_human | 22,473,392 | Paired-box gene 2 is down-regulated in endometriosis and correlates with low epidermal growth factor receptor expression. | 0.200275 | <span class="gene" id="22473392-0-0-17">Paired-box gene 2</span> is down-regulated in <span class="disease" id="22473392-0-39-52">endometriosis</span> and correlates with low epidermal growth factor receptor expression. | CTD_human |
null | null | Negative | MESH:D012772 | null | null | septic shock | 6962 | null | T cell receptor | null | 28,072,859 | The objectives of this study were 1) to determine the relation of lymphocyte dysfunction to viral reactivation and mortality, and 2) to evaluate recovery of lymphocyte function during septic shock, including T cell receptor (TCR) diversity and the expression of programmed death 1 (PD-1). | null | null | null |
1 | 0 | Biomarker | C0002395 | Alzheimer's Disease | disease | Alzheimer disease | 7019 | TFAM | TFAM | CTD_human | 17,192,785 | In addition to identifying the epsilon4 allele of APOE and related effects, we pinpointed over a dozen potential Alzheimer disease susceptibility genes (ACE, CHRNB2, CST3, ESR1, GAPDHS, IDE, MTHFR, NCSTN, PRNP, PSEN1, TF, TFAM and TNF) with statistically significant allelic summary odds ratios (ranging from 1.11-1.38 for risk alleles and 0.92-0.67 for protective alleles). | 0.223363 | In addition to identifying the epsilon4 allele of APOE and related effects, we pinpointed over a dozen potential <span class="disease" id="17192785-5-113-130">Alzheimer disease</span> susceptibility genes (ACE, CHRNB2, CST3, ESR1, GAPDHS, IDE, MTHFR, NCSTN, PRNP, PSEN1, TF, <span class="gene" id="17192785-5-222-226">TFAM</span> and TNF) with statistically significant allelic summary odds ratios (ranging from 1.11-1.38 for risk alleles and 0.92-0.67 for protective alleles). | CTD_human |
null | null | Negative | MESH:D001506 | null | null | BWS | 174 | null | alpha-fetoprotein | null | 28,160,403 | Until recently, this screening has been employed uniformly across all genetic and epigenetic causes of BWS, including the utilization of ultrasonography to detect abdominal tumors and alpha-fetoprotein (AFP) to detect hepatoblastoma. | null | null | null |
null | null | Negative | MESH:D064420 | null | null | toxicity | 404306 | null | EGFR | null | 28,193,671 | eBAT abated expected toxicity associated with EGFR targeting, a finding supported by mouse studies. | null | null | null |
69 | 0 | Biomarker | C0020538 | Hypertensive disease | group | hypertension | 183 | AGT | angiotensinogen | CTD_human | 21,393,355 | The hypertensive double-transgenic (dTG) rat strain, expressing human renin and angiotensinogen, develops severe hypertension and organ damage and 50% of individuals die by 7 weeks of age. | 0.52 | The hypertensive double-transgenic (dTG) rat strain, expressing human renin and <span class="gene" id="21393355-1-80-95">angiotensinogen</span>, develops severe <span class="disease" id="21393355-1-113-125">hypertension</span> and organ damage and 50% of individuals die by 7 weeks of age. | CTD_human |
null | null | Negative | MESH:D001943 | null | null | breast cancer | 2099;5241 | null | Estrogen Receptor and Progesterone Receptor | null | 28,009,468 | We present an automated method for co-localized scoring of Estrogen Receptor and Progesterone Receptor (ER/PR) in breast cancer core biopsies using whole slide images. | null | null | null |
3 | 2 | Biomarker | C0035334 | Retinitis Pigmentosa | disease | RP | 23418 | CRB1 | CRB1 | CTD_human | 10,508,521 | In ten unrelated RP patients with preserved para-arteriolar RPE, we identified a homozygous AluY insertion disrupting the ORF, five homozygous missense mutations and four compound heterozygous mutations in CRB1. | 0.610634 | In ten unrelated <span class="disease" id="10508521-7-17-19">RP</span> patients with preserved para-arteriolar RPE, we identified a homozygous AluY insertion disrupting the ORF, five homozygous missense mutations and four compound heterozygous mutations in <span class="gene" id="10508521-7-206-210">CRB1</span>. | CTD_human;HPO;ORPHANET |
null | null | Negative | MESH:D014923 | null | null | WAS | 884548 | null | CT750 | null | 28,036,832 | IMAGES WERE OBTAINED VIA HELICAL SCANS THAT WERE PERFORMED USING A GE DISCOVERY CT750 HD WITH THE COPD GENE/SARP PROTOCOLS EXCEPT TUBE CURRENT WAS VARIED FROM 790 TO 50 MA, AND LUNG INFLATION WAS FIXED VIA MECHANICAL VENTILATOR. | null | null | null |
7 | 0 | Biomarker | C0001206 | Acromegaly | disease | acromegaly | 2688 | GH1 | growth hormone | CTD_human | 18,388,193 | Epithelial sodium channel is a key mediator of growth hormone-induced sodium retention in acromegaly. | 0.210714 | Epithelial sodium channel is a key mediator of <span class="gene" id="18388193-0-47-61">growth hormone</span>-induced sodium retention in <span class="disease" id="18388193-0-90-100">acromegaly</span>. | CTD_human |
null | null | Negative | MESH:D003677 | null | null | SHOX deficiency | 2688 | null | growth hormone | null | 28,002,818 | BACKGROUND/AIMS: To assess auxological and safety data for growth hormone (GH)-treated children with SHOX deficiency. | null | null | null |
null | null | Negative | MESH:D030342 | null | null | inherited disease | 23479 | null | ISCU | null | 28,007,899 | ISCU myopathy is an inherited disease that primarily affects individuals of northern Swedish descent who share a single point mutation in the fourth intron of the ISCU gene. | null | null | null |
1 | 0 | Biomarker | C0079154 | Congenital Nonbullous Ichthyosiform Erythroderma | disease | lamellar ichthyosis | 26154 | ABCA12 | ABCA12 | CTD_human | 16,675,967 | No de novo mutation in ABCA12 has yet been reported either in HI or lamellar ichthyosis. | 0.409572 | No de novo mutation in <span class="gene" id="16675967-10-23-29">ABCA12</span> has yet been reported either in HI or <span class="disease" id="16675967-10-68-87">lamellar ichthyosis</span>. | CTD_human;ORPHANET |
3 | 3 | Biomarker | C0242383 | Age related macular degeneration | disease | Age-related macular degeneration | 387715 | ARMS2 | LOC387715 | CTD_human | 18,511,946 | Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. | 0.368536 | <span class="disease" id="18511946-0-0-32">Age-related macular degeneration</span> is associated with an unstable <span class="gene" id="18511946-0-64-69">ARMS2</span> (<span class="gene" id="18511946-0-71-80">LOC387715</span>) mRNA. | CTD_human |
null | null | Negative | MESH:D040181 | null | null | XLH | 5251 | null | X-linked hypophosphatemic | null | 28,194,480 | UNASSIGNED: In X-linked hypophosphatemic (XLH) rickets, dual-energy X-ray absorptiometry (DXA) measurements must be analyzed with caution. | null | null | null |
1 | 0 | Biomarker | C0345967 | Malignant mesothelioma | disease | malignant mesothelioma | 7431 | VIM | vimentin | CTD_human | 22,784,439 | Immunohistochemical analysis for epithelial membrane antigen, calretinin, vimentin, ?-catenin, melan-A, glucose transporter-1, cytokeratin CAM5.2, Wilms tumor antigen-1, D2-40, CD146, progesterone receptor, estrogen receptor, and cytokeratin 5/6 was indicative of malignant mesothelioma. | 0.200275 | Immunohistochemical analysis for epithelial membrane antigen, calretinin, <span class="gene" id="22784439-5-74-82">vimentin</span>, β-catenin, melan-A, glucose transporter-1, cytokeratin CAM5.2, Wilms tumor antigen-1, D2-40, CD146, progesterone receptor, estrogen receptor, and cytokeratin 5/6 was indicative of <span class="disease" id="22784439-5-264-286">malignant mesothelioma</span>. | CTD_human |
1 | 0 | Biomarker | C0014175 | Endometriosis | disease | endometriosis | 5617 | PRL | Prolactin | CTD_human | 11,925,390 | Prolactin and growth hormone secretion after thyrotrophin-releasing hormone infusion and dopaminergic (DA2) blockade in infertile patients with minimal/mild endometriosis. | 0.201099 | <span class="gene" id="11925390-0-0-9">Prolactin</span> and growth hormone secretion after thyrotrophin-releasing hormone infusion and dopaminergic (DA2) blockade in infertile patients with minimal/mild <span class="disease" id="11925390-0-157-170">endometriosis</span>. | CTD_human |
null | null | Negative | MESH:D057180 | null | null | FTD | 64396 | null | GCL | null | 28,106,555 | OBJECTIVE: To obtain cross-sectional information on RNFL and GCL-IPL thickness among MCI, AD, FTD, and healthy controls (HC), and their correlations with dementia severity. | null | null | null |
2 | 1 | Biomarker | C0011615 | Dermatitis, Atopic | disease | AD | 3596 | IL13 | IL-13 | CTD_human | 22,355,542 | These studies indicate that IL-13 induces AD and atopic march via a TSLP dependent mechanism. | 0.303676 | These studies indicate that <span class="gene" id="22355542-6-28-33">IL-13</span> induces <span class="disease" id="22355542-6-42-44">AD</span> and atopic march via a TSLP dependent mechanism. | CTD_human |
2 | 4 | Biomarker | C0796176 | STUVE-WIEDEMANN SYNDROME | disease | SWS | 3977 | LIFR | leukemia inhibitory factor receptor | CTD_human | 19,603,067 | The Stüve-Wiedemann Syndrome (SWS) is a frequently lethal chondrodysplasia caused by null mutations in the leukemia inhibitory factor receptor gene (LIFR) responsible for an impaired activation of the JAK-STAT pathway after LIF stimulation. | 0.601923 | The <span class="disease" id="19603067-1-4-28">Stüve-Wiedemann Syndrome</span> (<span class="disease" id="19603067-1-30-33">SWS</span>) is a frequently lethal chondrodysplasia caused by null mutations in the <span class="gene" id="19603067-1-107-142">leukemia inhibitory factor receptor</span> gene (LIFR) responsible for an impaired activation of the JAK-STAT pathway after LIF stimulation. | CTD_human;ORPHANET;UNIPROT |
10 | 18 | Biomarker | C0221018 | Hereditary sideroblastic anemia | disease | X-linked sideroblastic anaemia | 212 | ALAS2 | ALAS2 | CTD_human | 18,637,800 | The most frequent form is X-linked sideroblastic anaemia, caused by mutations of delta-aminolevulinic acid synthase 2 (ALAS2), the enzyme that catalyses the first and regulatory step of haem synthesis in erythroid precursors and is post-transcriptionally controlled by the iron regulatory proteins. | 0.60989 | The most frequent form is <span class="disease" id="18637800-2-26-56">X-linked sideroblastic anaemia</span>, caused by mutations of delta-aminolevulinic acid synthase 2 (<span class="gene" id="18637800-2-119-124">ALAS2</span>), the enzyme that catalyses the first and regulatory step of haem synthesis in erythroid precursors and is post-transcriptionally controlled by the iron regulatory proteins. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C0878544 | Cardiomyopathies | group | cardiomyopathy | 5563 | PRKAA2 | Prkaa2 | CTD_human | 21,037,199 | A novel coexpression and integrated pathway network analysis indicated Prkaa2, Pdk2, Rhoj, and Sgcb are likely to play a central role in the pathophysiology of murine progressive cardiomyopathy in C3H/HeJ mice. | 0.200275 | A novel coexpression and integrated pathway network analysis indicated <span class="gene" id="21037199-7-71-77">Prkaa2</span>, Pdk2, Rhoj, and Sgcb are likely to play a central role in the pathophysiology of murine progressive <span class="disease" id="21037199-7-179-193">cardiomyopathy</span> in C3H/HeJ mice. | CTD_human |
null | null | Negative | MESH:D018235 | null | null | ASM | 3791 | null | phospho-VEGF receptor 2 | null | 28,056,993 | METHODS: In order to elucidate the precise mechanism underlying the effect of 1,25(OH)2D3 on VEGF-induced ADAM33 expression and ASM cell proliferation, we tested the effects of 1,25(OH)2D3 on cell cycle progression and evaluated the levels of phospho-VEGF receptor 2 (VEGFR2), phospho-extracellular signal-regulated kinase 1/2 (ERK1/2), and phospho-Akt in VEGF-stimulated ASM cells. | null | null | null |
null | null | Negative | MESH:D009203 | null | null | MI | 50689;116590 | null | ERK1/2 | null | 28,039,938 | CONCLUSIONS: The administration of P2X7 R RNAi during the acute inflammatory response phase prevented the process of sympathetic hyperinnervation after MI, which was associated in part with inhibiting the Akt and ERK1/2 pathways and NF-kB activation. | null | null | null |
null | null | Negative | MESH:D053632 | null | null | SCID | 3560 | null | CD122 | null | 28,164,571 | 1 x 107 SKM-1 cells were inoculated into anti-mouse CD122 monoantibody conditioned nonobese diabetic severe combined immunodeficiency (NOD/SCID) mice by intravenous injection. | null | null | null |
1 | 0 | Biomarker | C0001418 | Adenocarcinoma | group | adenocarcinoma | 1029 | CDKN2A | p16 | CTD_human | 20,135,361 | Implication of p16 inactivation in tumorigenic activity of respiratory epithelial cell lines and adenocarcinoma cell line established from plutonium-induced lung tumor in rat. | 0.263722 | Implication of <span class="gene" id="20135361-0-15-18">p16</span> inactivation in tumorigenic activity of respiratory epithelial cell lines and <span class="disease" id="20135361-0-97-111">adenocarcinoma</span> cell line established from plutonium-induced lung tumor in rat. | CTD_human |
16 | 285 | Biomarker | C0013264 | Muscular Dystrophy, Duchenne | disease | Duchenne muscular dystrophy | 1756 | DMD | dystrophin | CTD_human | 12,966,700 | Aim of the study was to investigate whether the administration of gentamicin could restore dystrophin expression in striated muscles of patients with Duchenne muscular dystrophy caused by premature stop codon, as reported in mdx mice. | 0.85109 | Aim of the study was to investigate whether the administration of gentamicin could restore <span class="gene" id="12966700-1-91-101">dystrophin</span> expression in striated muscles of patients with <span class="disease" id="12966700-1-150-177">Duchenne muscular dystrophy</span> caused by premature stop codon, as reported in mdx mice. | CTD_human;ORPHANET;UNIPROT |
1 | 0 | Biomarker | C1136249 | Mental Retardation, X-Linked | disease | X-linked mental retardation | 2245 | FGD1 | FGD1 | CTD_human | 11,940,089 | Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. | 0.203008 | Non-syndromic <span class="disease" id="11940089-0-14-41">X-linked mental retardation</span> associated with a missense mutation (P312L) in the <span class="gene" id="11940089-0-93-97">FGD1</span> gene. | CTD_human |
null | null | Negative | MESH:D018235 | null | null | smooth muscle actin | 7431 | null | vimentin | null | 28,022,216 | The genes were crossed against approximately 200 clinically used antibodies; 3 were selected: thyroid transcription factor 1 (TTF1), smooth muscle actin (SMA), and vimentin (VIM). | null | null | null |
1 | 0 | Biomarker | C0023493 | Adult T-Cell Lymphoma/Leukemia | disease | human T-Cell leukemia | 7014 | TERF2 | TRF2 | CTD_human | 17,643,074 | Telomere attrition and chromosome instability via downregulation of TRF2 contributes to arsenic trioxide-induced apoptosis of human T-Cell leukemia cell line molt-4 cells. | 0.203282 | Telomere attrition and chromosome instability via downregulation of <span class="gene" id="17643074-0-68-72">TRF2</span> contributes to arsenic trioxide-induced apoptosis of <span class="disease" id="17643074-0-126-147">human T-Cell leukemia</span> cell line molt-4 cells. | CTD_human |
null | null | Negative | MESH:D001260 | null | null | T-helper 2 | 16153 | null | IL-10 | null | 28,078,033 | Intravenous injection of BMSCs significantly reduced allergic symptoms, eosinophil infiltration, OVA-specific immunoglobulin E (IgE), T-helper 2 (Th2) cytokine profile (interleukin (IL)-4, IL-5 and IL-13) and regulatory cytokines (IL-10). | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 24494 | null | interleukin-1beta | null | 28,152,042 | Western blot analysis was performed to determine protein expression of high-mobility group box 1 (HMGB1), toll-like receptor-4 (TLR-4), phosphorylated nuclear factor-kappa B (p-NF-kB), interleukin-1beta (IL-1b), tumor necrosis factor-alpha (TNF-a), phosphorylated inducible and endothelial nitric oxide synthase (p-iNOS, p-eNOS), Bcl-2, Bax, Cytochrome C, and caspase-3 in the brain. | null | null | null |
3 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autistic | 5649 | RELN | Reelin | CTD_human | 11,814,262 | Dysregulation of Reelin and Bcl-2 proteins in autistic cerebellum. | 0.232791 | Dysregulation of <span class="gene" id="11814262-0-17-23">Reelin</span> and Bcl-2 proteins in <span class="disease" id="11814262-0-46-54">autistic</span> cerebellum. | CTD_human |
null | null | Negative | MESH:D020295 | null | null | Stemness | 9332 | null | CD163 | null | 28,114,366 | Stemness features of tumoral hepatocytes (EpCAM, K19, Oct3/4, c-KIT, c-MET, and CD133), and tumor stromal cells expressing a-smooth muscle actin (a-SMA), CD68, CD163, and IL-6 were analyzed in 36 low grade dysplastic nodules (DNs), 48 high grade DNs, 30 early HCCs (eHCCs), and 51 progressed HCCs (pHCCs) by immunohistochemistry or real-time PCR. | null | null | null |
1 | 0 | Biomarker | C0024796 | Marfan Syndrome | disease | MFS | 4313 | MMP2 | MMP-2 | CTD_human | 18,178,469 | This study demonstrates that doxycycline significantly delays aneurysm rupture in MFS-like mice by inhibiting expression of tissue MMP-2 and MMP-9 and thus, degradation of the elastic matrix. | 0.200275 | This study demonstrates that doxycycline significantly delays aneurysm rupture in <span class="disease" id="18178469-15-82-85">MFS</span>-like mice by inhibiting expression of tissue <span class="gene" id="18178469-15-131-136">MMP-2</span> and MMP-9 and thus, degradation of the elastic matrix. | CTD_human |
7 | 0 | Biomarker | C0040034 | Thrombocytopenia | phenotype | thrombocytopenia | 5196 | PF4 | PF4 | CTD_human | 8,282,825 | These findings indicate that antibodies associated with HITP react with PF4 complexed with heparin in solution or with glycosaminoglycan molecules on the surface of endothelial cells and provide the basis for a new hypothesis to explain the development of thrombocytopenia with thrombosis or disseminated intravascular coagulation in patients sensitive to heparin. | 0.204931 | These findings indicate that antibodies associated with HITP react with <span class="gene" id="8282825-8-72-75">PF4</span> complexed with heparin in solution or with glycosaminoglycan molecules on the surface of endothelial cells and provide the basis for a new hypothesis to explain the development of <span class="disease" id="8282825-8-256-272">thrombocytopenia</span> with thrombosis or disseminated intravascular coagulation in patients sensitive to heparin. | CTD_human |
null | null | Negative | MESH:D018455 | null | null | S deficiency | 5624 | null | protein C | null | 28,133,551 | Coagulability workup returned positive for protein C and S deficiency. | null | null | null |
68 | 0 | Therapeutic | C0020538 | Hypertensive disease | group | hypertension | 5443 | POMC | ACTH | CTD_human | 15,110,907 | These data suggest that EPO is not causal in ACTH-induced hypertension. | 0.203846 | These data suggest that EPO is not causal in <span class="gene" id="15110907-13-45-49">ACTH</span>-induced <span class="disease" id="15110907-13-58-70">hypertension</span>. | CTD_human |
null | null | Negative | MESH:D011502 | null | null | energy balance dysregulation | 24241 | null | CGRP | null | 28,077,715 | Here, we used neuroanatomical tracing, immunofluorescence, and confocal imaging to demonstrate that virtually all NTS > lPBN and lPBN > CeA CGRP projections coexpress vesicular glutamate transporter 2 (VGLUT2), providing evidence that excitatory projections mediate cisplatin-induced energy balance dysregulation. | null | null | null |
null | null | Negative | MESH:D004194 | null | null | multisystem disorder | 9361 | null | LONP1 | null | 28,148,925 | UNASSIGNED: Cerebral, ocular, dental, auricular, skeletal (CODAS) syndrome is a rare autosomal recessive multisystem disorder caused by mutations in LONP1. | null | null | null |
null | null | Negative | MESH:D005355 | null | null | fibrosis | 100508689 | null | mucin | null | 28,099,617 | The diagnosis is based on four criteria: generalized papular and sclerodermoid lesions; mucin deposition, fibroblast proliferation, and fibrosis in the histopathology; monoclonal gammopathy; and no thyroid disorders. | null | null | null |
null | null | Negative | MESH:D006332 | null | null | splenic enlargement | 28509 | null | DM1 | null | 28,110,417 | BACKGROUND: An association between trastuzumab-emtansine (T-DM1) and splenic enlargement is reported in preclinical data, and has been noted anecdotally in patients receiving T-DM1 at our institution. | null | null | null |
1 | 0 | Biomarker | C0020619 | Hypogonadism | disease | hypogonadism | 5617 | PRL | PRL | CTD_human | 15,829,128 | Half of all men with prolactin (PRL)-producing macroadenomas present with hypogonadism, decreased libido and impotence, and therefore require testosterone replacement. | 0.2 | Half of all men with <span class="gene" id="15829128-1-21-30">prolactin</span> (<span class="gene" id="15829128-1-32-35">PRL</span>)-producing macroadenomas present with <span class="disease" id="15829128-1-74-86">hypogonadism</span>, decreased libido and impotence, and therefore require testosterone replacement. | CTD_human |
3 | 0 | Biomarker | C1832200 | Peroxisome biogenesis disorders | group | peroxisome-biogenesis disorders | 5194 | PEX13 | PEX13 | CTD_human | 10,441,568 | PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders. | 0.200824 | <span class="gene" id="10441568-0-0-5">PEX13</span> is mutated in complementation group 13 of the <span class="disease" id="10441568-0-52-83">peroxisome-biogenesis disorders</span>. | CTD_human |
null | null | Negative | MESH:D006984 | null | null | Hypertrophic parameters | 25402 | null | caspase-3 | null | 28,181,211 | Hypertrophic parameters, left ventricular (LV) remodelling, and gene expression of Apel, apelin receptor (Apelr), Bax, caspase-3 (Casp-3), and Bcl-2 by real-time polymerase chain reaction and cardiomyocytes apoptosis by TUNEL immunostaining were assessed on day 14 post-MI. | null | null | null |
1 | 0 | Biomarker | C0007124 | Noninfiltrating Intraductal Carcinoma | disease | DCIS | 768 | CA9 | CAIX | 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 | GLUT1 and <span class="gene" id="20526721-9-10-14">CAIX</span> 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:D012891 | null | null | sleep apnea | 15369 | null | heme oxygenase-2 | null | 28,115,703 | Here, we report that mice deficient in heme oxygenase-2 (HO-2), which generates the gaseous molecule carbon monoxide (CO), exhibit sleep apnea characterized by high apnea and hypopnea indices during rapid eye movement (REM) sleep. | null | null | null |
null | null | Negative | MESH:D009455 | null | null | neurofibroma | 23189 | null | KANK1 | null | 28,067,315 | Consistently, knockdown of KANK1 in neurofibroma cells promoted cell growth. | null | null | null |
1 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 2944 | GSTM1 | GSTM1 | CTD_human | 16,472,391 | Analysis of case-parent trios at a locus with a deletion allele: association of GSTM1 with autism. | 0.205689 | Analysis of case-parent trios at a locus with a deletion allele: association of <span class="gene" id="16472391-0-80-85">GSTM1</span> with <span class="disease" id="16472391-0-91-97">autism</span>. | CTD_human |
null | null | Negative | MESH:C565469 | null | null | IMD | 39753 | null | Diap1 | null | 28,085,885 | We demonstrate that NF-kB/IMD signaling antagonizes apoptosis by up-regulating expression of the anti-apoptotic protein Diap1. | null | null | null |
null | null | Negative | MESH:D007896 | null | null | leishmaniasis | 216799 | null | NLRP3 | null | 28,192,528 | Using murine models of inflammation induced by the protozoan parasite leishmania, and data obtained from patients with cutaneous leishmaniasis, we uncovered a previously unrecognized role for NLRP3 inflammasome activation and IL-1b release as a detrimental consequence of CD8+ T cell-mediated cytotoxicity, ultimately resulting in chronic inflammation. | null | null | null |
1 | 0 | Biomarker | C0406704 | Rudiger syndrome 1 | disease | EEC syndrome | 8626 | TP63 | p63 | CTD_human | 11,462,173 | The combined data show that p63 is the major gene for EEC syndrome, and that it makes a modest contribution to SHFM. | 0.404945 | The combined data show that <span class="gene" id="11462173-10-28-31">p63</span> is the major gene for <span class="disease" id="11462173-10-54-66">EEC syndrome</span>, and that it makes a modest contribution to SHFM. | CTD_human;ORPHANET |
3 | 11 | Biomarker | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | type 2 diabetes mellitus | 3784 | KCNQ1 | KCNQ1 | CTD_human | 18,711,367 | Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus. | 0.297564 | Variants in <span class="gene" id="18711367-0-12-17">KCNQ1</span> are associated with susceptibility to <span class="disease" id="18711367-0-56-80">type 2 diabetes mellitus</span>. | CTD_human |
1 | 3 | Biomarker | C0030567 | Parkinson Disease | disease | PD | 683 | BST1 | BST1 | CTD_human | 19,915,576 | By comparing results of a GWAS performed on individuals of European ancestry, we identified PARK16, SNCA and LRRK2 as shared risk loci for PD and BST1 and MAPT as loci showing population differences. | 0.211342 | By comparing results of a GWAS performed on individuals of European ancestry, we identified PARK16, SNCA and LRRK2 as shared risk loci for <span class="disease" id="19915576-4-139-141">PD</span> and <span class="gene" id="19915576-4-146-150">BST1</span> and MAPT as loci showing population differences. | CTD_human |
4 | 0 | Biomarker | C0004352 | Autistic Disorder | disease | autism | 26047 | CNTNAP2 | CNTNAP2 | CTD_human | 21,310,003 | We propose that these CNTNAP2 variants increase susceptibility to SLI or autism when they occur together with other risk factors. | 0.304644 | We propose that these <span class="gene" id="21310003-7-22-29">CNTNAP2</span> variants increase susceptibility to SLI or <span class="disease" id="21310003-7-73-79">autism</span> when they occur together with other risk factors. | CTD_human |
1 | 0 | Therapeutic | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | disease | type 2 diabetes | 4090 | SMAD5 | Smad5 | CTD_human | 20,079,400 | These finding reveals Smad5 as a potential target for the therapeutic of type 2 diabetes. | 0.2 | These finding reveals <span class="gene" id="20079400-9-22-27">Smad5</span> as a potential target for the therapeutic of <span class="disease" id="20079400-9-73-88">type 2 diabetes</span>. | CTD_human |
null | null | Negative | MESH:D005909 | null | null | GBM | 387166 | null | miR-148a | null | 28,142,001 | Inhibition of two "risky" miRNAs, miR-148a and miR-31, in orthotopic xenograft GBM mouse models suppressed tumor growth and thereby prolonged animal survival. | null | null | null |
null | null | Negative | MESH:D007239 | null | null | Controlled human malaria infection | 11061 | null | CHMI | null | 28,081,133 | Controlled human malaria infection (CHMI) in healthy human volunteers is an important and powerful tool in clinical malaria vaccine development. | null | null | null |
2 | 0 | Biomarker | C2940786 | Thyroid Hormone Resistance Syndrome | disease | resistance to thyroid hormone | 7068 | THRB | thyroid hormone receptor beta | CTD_human | 10,660,344 | T426I a new mutation in the thyroid hormone receptor beta gene in a sporadic patient with resistance to thyroid hormone and dysmorphism. Mutations in brief no. 192. Online. | 0.639112 | T426I a new mutation in the <span class="gene" id="10660344-0-28-57">thyroid hormone receptor beta</span> gene in a sporadic patient with <span class="disease" id="10660344-0-90-119">resistance to thyroid hormone</span> and dysmorphism. Mutations in brief no. 192. Online. | CTD_human;HPO;ORPHANET |
25 | 0 | Biomarker | C0004153 | Atherosclerosis | disease | atherosclerosis | 348 | APOE | apolipoprotein E | CTD_human | 11,231,916 | Troglitazone inhibits atherosclerosis in apolipoprotein E-knockout mice: pleiotropic effects on CD36 expression and HDL. | 0.587329 | Troglitazone inhibits <span class="disease" id="11231916-0-22-37">atherosclerosis</span> in <span class="gene" id="11231916-0-41-57">apolipoprotein E</span>-knockout mice: pleiotropic effects on CD36 expression and HDL. | CTD_human;HPO |
null | null | Negative | MESH:C536528 | null | null | LPS | 16153 | null | IL-10 | null | 28,198,981 | Objective: This study is to determine the effects of P. gingivalis LPS and CpG on B10 cell expansion and IL-10 competency in vitro. | null | null | null |
null | null | Negative | MESH:D003327 | null | null | coronary heart disease | 20410 | null | vinexin | null | 28,209,562 | METHODS AND RESULTS: Immunoblot analysis showed that vinexin b expression is upregulated in the atherosclerotic lesions of both patients with coronary heart disease and hyperlipemic apolipoprotein E-deficient mice and is primarily localized in macrophages indicated by immunofluorescence staining. | null | null | null |
6 | 0 | Biomarker | C0027697 | Nephritis | disease | nephritis | 213 | ALB | serum albumin | CTD_human | 2,945,356 | The distribution of heparan sulfate proteoglycan (HS-PG) was examined electron microscopically by the high iron diamine (HID) method in puromycin aminonucleoside (PAN) nephrosis, accelerated Masugi nephritis (NTN), and serum sickness nephritis induced by bovine serum albumin (BSA nephritis) in the rat. | 0.2 | The distribution of heparan sulfate proteoglycan (HS-PG) was examined electron microscopically by the high iron diamine (HID) method in puromycin aminonucleoside (PAN) nephrosis, accelerated Masugi nephritis (NTN), and serum sickness <span class="disease" id="2945356-1-234-243">nephritis</span> induced by bovine <span class="gene" id="2945356-1-262-275">serum albumin</span> (BSA <span class="disease" id="2945356-1-281-290">nephritis</span>) in the rat. | CTD_human |
1 | 0 | Biomarker | C0079744 | Diffuse Large B-Cell Lymphoma | disease | DLBCL | 2735 | GLI1 | GLI1 | CTD_human | 21,625,222 | Furthermore, in DLBCL tumor samples, significantly high ABCG2 and GLI1 levels were found in DLBCL tumors with lymph node involvement in comparison with DLBCL tumor cells collected from pleural and/or peritoneal effusions. | 0.201099 | Furthermore, in <span class="disease" id="21625222-6-16-21">DLBCL</span> tumor samples, significantly high ABCG2 and <span class="gene" id="21625222-6-66-70">GLI1</span> levels were found in <span class="disease" id="21625222-6-92-97">DLBCL</span> tumors with lymph node involvement in comparison with <span class="disease" id="21625222-6-152-157">DLBCL</span> tumor cells collected from pleural and/or peritoneal effusions. | CTD_human |
1 | 0 | Biomarker | C0026896 | Myasthenia Gravis | disease | MG | 355 | FAS | Fas | CTD_human | 15,169,653 | Abnormalities of apoptosis and Fas gene expression of MG patients' thymocytes, and Fas gene mutation may be related to the pathogenesis and progression of MG. | 0.2 | Abnormalities of apoptosis and <span class="gene" id="15169653-11-31-34">Fas</span> gene expression of <span class="disease" id="15169653-11-54-56">MG</span> patients' thymocytes, and <span class="gene" id="15169653-11-83-86">Fas</span> gene mutation may be related to the pathogenesis and progression of <span class="disease" id="15169653-11-155-157">MG</span>. | CTD_human |
null | null | Negative | MESH:D065632 | null | null | CHIKV | 5601 | null | MAPK9 | null | 28,105,853 | The analysis identified seven host proteins (CCDC130, CPNE6, POLR2C, MAPK9, EIF4A2, EEF1A1 and EIF3I) as putative interactors of CHIKV nsP2 which were selected for further analysis based on their roles in host cellular machinery. | null | null | null |
2 | 0 | Biomarker | C1136249 | Mental Retardation, X-Linked | disease | X-linked mental retardation | 10084 | PQBP1 | PQBP1 | CTD_human | 15,024,694 | Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. | 0.211495 | Novel truncating mutations in the <span class="gene" id="15024694-0-34-71">polyglutamine tract binding protein 1</span> gene (<span class="gene" id="15024694-0-78-83">PQBP1</span>) cause Renpenning syndrome and <span class="disease" id="15024694-0-115-142">X-linked mental retardation</span> in another family with microcephaly. | CTD_human |
64 | 0 | Therapeutic | C0002871 | Anemia | disease | anemia | 2056 | EPO | erythropoietin | CTD_human | 10,506,726 | Erythropoietin reduces anemia and transfusions: A randomized trial with or without erythropoietin during chemotherapy. | 0.24092 | <span class="gene" id="10506726-0-0-14">Erythropoietin</span> reduces <span class="disease" id="10506726-0-23-29">anemia</span> and transfusions: A randomized trial with or without <span class="gene" id="10506726-0-83-97">erythropoietin</span> during chemotherapy. | CTD_human |
null | null | Negative | MESH:D006192 | null | null | H. parasuis | 16189 | null | IL-4 | null | 28,187,951 | Our results showed that the microspheres with Omp16 induced significant higher H. parasuis-specific antibodies, and higher titers of IL-2, IL-4, and IFN-y than those by Omp16-FIA in treated mice (p<0.05). | null | null | null |
null | null | Negative | MESH:D009369 | null | null | tumor | 23802 | null | AMFR | null | 28,191,869 | We show that enzalutamide treatment in human models of prostate cancer and patient tissues is accompanied by a ubiquitin E3-ligase, AMFR, mediating loss of 11b-hydroxysteroid dehydrogenase-2 (11b-HSD2), which otherwise inactivates cortisol, sustaining tumor cortisol concentrations to stimulate GR and enzalutamide resistance. | null | null | null |
null | null | Negative | MESH:D001943 | null | null | breast cancer | 16001 | null | IGF1R | null | 28,017,727 | Gene microarray analysis revealed that silencing HS6ST3 significantly changed the expression of IGF1R and XAF1 in breast cancer cells. | null | null | null |
null | null | Negative | MESH:D019217 | null | null | attrition | 17395 | null | MMP-9 | null | 28,191,506 | Currently, we attempt to find that in MMP-9 knock out (KO) mice displayed severe attrition on teeth development. | null | null | null |
1 | 0 | Biomarker | C1510586 | Autism Spectrum Disorders | disease | autism spectrum disorders | 10743 | RAI1 | RAI1 | CTD_human | 20,981,775 | The mechanisms by which the deletion of RAI1 and contiguous genes cause psychopathology remain unknown but they provide a solid starting point for further studies of gene-brain-behavior interactions in SMS and autism spectrum disorders. | 0.200824 | The mechanisms by which the deletion of <span class="gene" id="20981775-10-40-44">RAI1</span> and contiguous genes cause psychopathology remain unknown but they provide a solid starting point for further studies of gene-brain-behavior interactions in SMS and <span class="disease" id="20981775-10-210-235">autism spectrum disorders</span>. | CTD_human |
null | null | Negative | MESH:D007239 | null | null | C infection | 155030 | null | Gag | null | 28,077,659 | Here, we employed MHC class II tetramers designed to immunodominant Gag epitopes and used them to characterize CD4<sup>+</sup>T cell responses in HIV-1 clade C infection. | null | null | null |
null | null | Negative | MESH:D009136 | null | null | muscular dystrophy | 10585 | null | POMT1 | null | 28,116,189 | Mutations in a number of genes including POMT1, POMT2, POMGNT1, POMGNT2, FKTN, FKRP, LARGE, and ISPD are known to cause alpha dystroglycan-related muscular dystrophy. | null | null | null |
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