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This study suggests that AMPD1 C34T genotype is not a predictor of survival in heart disease patients, except possibly those with HxMI. | genomic_alterations | {
"id": 270,
"name": "AMPD1",
"pos": [
25,
5
]
} | {
"id": "C0018799",
"name": "Heart Diseases",
"pos": [
79,
13
]
} |
Thus, targeting MCT1 in both tumor cells and brain EC may be a promising therapeutic strategy for the treatment of GBM. | biomarker | {
"id": 1215,
"name": "CMA1",
"pos": [
16,
4
]
} | {
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
115,
3
]
} |
Here we show that a cellular ligand for NKp44 (NKp44L) is expressed during HIV-1 infection and is correlated with both the progression of CD4+ T cell depletion and the increase of viral load. | NA | {
"id": 920,
"name": "CD4",
"pos": [
138,
3
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
180,
10
]
} |
Our findings have important potential implications demonstrating that together with clinical prognostic factors such as radiotherapy and age, CXCR4 and IGF-1R negatively influences survival in patients with localized SS. | biomarker | {
"id": 3479,
"name": "IGF1",
"pos": [
152,
3
]
} | {
"id": "C0279982",
"name": "Childhood Synovial Sarcoma",
"pos": [
217,
2
]
} |
Bronchial mucosal expression of the genes encoding chemokines RANTES and MCP-3 in symptomatic atopic and nonatopic asthmatics: relationship to the eosinophil-active cytokines interleukin (IL)-5, granulocyte macrophage-colony-stimulating factor, and IL-3. | NA | {
"id": 6354,
"name": "CCL7",
"pos": [
73,
5
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
94,
6
]
} |
RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations. | genomic_alterations | {
"id": 5921,
"name": "RASA1",
"pos": [
0,
5
]
} | {
"id": "C0003857",
"name": "Congenital arteriovenous malformation",
"pos": [
69,
27
]
} |
We hypothesized that analysis of plasma for EGFR and KRAS mutations from shed tumor DNA would have clinical utility. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
44,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
78,
5
]
} |
CYP ω-hydroxylase promotes tumor angiogenesis and metastasis by upregulation of VEGF and MMP-9 via PI3 K and ERK1/2 signaling in human NSCLC cells. | NA | {
"id": 5266,
"name": "PI3",
"pos": [
99,
3
]
} | {
"id": "C1519670",
"name": "Tumor Angiogenesis",
"pos": [
27,
18
]
} |
The evidence presented here suggests that disuse muscle atrophy is associated with activation of an alternative NF-kappaB pathway that involves the activation of p50 but not p65. | NA | {
"id": 8874,
"name": "ARHGEF7",
"pos": [
162,
3
]
} | {
"id": "C0264122",
"name": "Atrophy, Disuse",
"pos": [
42,
21
]
} |
ECRG4 promoter methylation was detected with methylation-specific PCR in 49 samples of gastric cancer tissues, 30 samples of peri-cancerous tissues and 15 samples of normal tissues. | NA | {
"id": 84417,
"name": "ECRG4",
"pos": [
0,
5
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
87,
14
]
} |
These findings suggest that S-protein does not render the MAC inactive in X-linked vacuolated myopathy. | NA | {
"id": 4082,
"name": "MARCKS",
"pos": [
58,
3
]
} | {
"id": "C0026848",
"name": "Myopathy",
"pos": [
94,
8
]
} |
Included in the deletion interval is the MEF2C gene that usually causes severe mental disability when haploinsufficient, illustrating the complexity of clinic-cytogenetic correlation even with defined segmental aneuploidy. | NA | {
"id": 4208,
"name": "MEF2C",
"pos": [
41,
10
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
211,
10
]
} |
We studied 15 patients (14 men, age 67±5 years) fulfilling the following strict inclusion criteria: (1) recent PCI (<6 months), with drug-eluting stent, of coronary artery stenoses for stable angina, with evidence of full success (no residual stenosis >20% in any vessel); (2) persistence of ST-segment depression induction during EST. | genomic_alterations | {
"id": 6783,
"name": "SULT1E1",
"pos": [
337,
3
]
} | {
"id": "C0242231",
"name": "Coronary Stenosis",
"pos": [
159,
24
]
} |
Both protein and mRNA levels of CIRP in 3 types of pituitary adenoma samples were quantified by Western blotting and real-time PCR, respectively. | NA | {
"id": 1153,
"name": "CIRBP",
"pos": [
32,
4
]
} | {
"id": "C0032000",
"name": "Pituitary Adenoma",
"pos": [
51,
17
]
} |
Relationship between cyclin G1 and human papilloma virus infection in cervical intraepithelial neoplasia and cervical carcinoma. | NA | {
"id": 900,
"name": "CCNG1",
"pos": [
21,
9
]
} | {
"id": "C0343641",
"name": "Human papilloma virus infection",
"pos": [
35,
31
]
} |
We have also found that FF genotype of VDR FokI and lower serum levels of vitamin D (25-OH) showed association with childhood autism (CHA), a subgroup of NDD. | genomic_alterations | {
"id": 7421,
"name": "VDR",
"pos": [
39,
3
]
} | {
"id": "C1535926",
"name": "Neurodevelopmental Disorders",
"pos": [
154,
3
]
} |
Infusion of antiserum against salusin-β attenuated the induction of VCAM-1, monocyte chemoattractant protein (MCP)-1, and IL-1β and as well as nuclear translocation of NF-κB in aortic endothelial cells (ECs) of LDL receptor-deficient mice, which led to the prevention of monocyte adhesion to aortic ECs. | NA | {
"id": 822,
"name": "CAPG",
"pos": [
110,
3
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
280,
8
]
} |
We therefore demonstrate that STAT5A and STAT5B differentially regulate behavior of human mammary carcinoma cells. | NA | {
"id": 6777,
"name": "STAT5B",
"pos": [
41,
6
]
} | {
"id": "C4704874",
"name": "Mammary Carcinoma, Human",
"pos": [
84,
23
]
} |
Enhanced endothelin-1/Rho-kinase signalling and coronary microvascular dysfunction in hypertensive myocardial hypertrophy. | biomarker | {
"id": 1906,
"name": "EDN1",
"pos": [
9,
12
]
} | {
"id": "C3696962",
"name": "Coronary microvascular dysfunction",
"pos": [
48,
34
]
} |
We also assessed by ChIP assay that HIF-1α and GPER are both recruited to the VEGF promoter sequence and required for VEGF promoter stimulation upon hypoxic condition. | NA | {
"id": 2852,
"name": "GPER1",
"pos": [
47,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
149,
7
]
} |
In this study, FISH is compared to Southern, Northern and Western blot analyses as well as immunohistochemistry in a large cohort of archival human breast cancer specimens. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
15,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
148,
13
]
} |
EGFR mutations were frequently found in lung adenocarcinoma with GGO on HRCT in this study. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
0,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
40,
19
]
} |
Real-time PCR and Western blotting were performed to detect the expression of GRP78, p-eIF2α, spliced XBP1, ATF6, ATF4 and p-IRE1α in the lenses of normal human subjects and patients with age-related, myopia-related or congenital cataracts. | NA | {
"id": 7494,
"name": "XBP1",
"pos": [
102,
4
]
} | {
"id": "C0027092",
"name": "Myopia",
"pos": [
201,
6
]
} |
We demonstrate that generalized atrophy occurs presymptomatically in CHMP2B gene mutation carriers. | NA | {
"id": 25978,
"name": "CHMP2B",
"pos": [
69,
11
]
} | {
"id": "C0333641",
"name": "Atrophic",
"pos": [
32,
7
]
} |
We tested 61 common (allele frequency ≥ 0.1) tagging single nucleotide polymorphisms (SNPs) that captured most of the genetic variation across RPTOR in 374 subjects of normal lifespan and 439 subjects with a lifespan exceeding 95 years for association with overweight/obesity, essential hypertension, and isolated systolic hypertension. | NA | {
"id": 57521,
"name": "RPTOR",
"pos": [
143,
5
]
} | {
"id": "C0221155",
"name": "Systolic hypertension",
"pos": [
314,
21
]
} |
Polymorphisms in genes of the renin-angiotensin-aldosterone system and renal cell cancer risk: interplay with hypertension and intakes of sodium, potassium and fluid. | genomic_alterations | {
"id": 5972,
"name": "REN",
"pos": [
30,
5
]
} | {
"id": "C0007134",
"name": "Renal Cell Carcinoma",
"pos": [
71,
17
]
} |
A switch from AR<sup>-</sup> primary tumour to AR<sup>+</sup> lymph node metastasis was seen in 60/72 discrepant cases. | biomarker | {
"id": 367,
"name": "AR",
"pos": [
59,
2
]
} | {
"id": "C0686619",
"name": "Secondary malignant neoplasm of lymph node",
"pos": [
86,
21
]
} |
Application of palliative targeted therapies with oral tyrosine kinase inhibitors (TKIs) in advanced/metastatic lung ACs harboring abnormalities in EGFR (gefitinib, erlotinib, afatinib) and ALK/ROS1/MET (crizotinib) has consistently led to more favorable outcomes compared with traditional cytotoxic agents. | NA | {
"id": 238,
"name": "ALK",
"pos": [
190,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
131,
13
]
} |
Together, these compelling data suggest that APRIL-induced tumorigenesis and metastasis of CRC cells may be accomplished through activation of the PI3K/Akt pathway. | NA | {
"id": 5290,
"name": "PIK3CA",
"pos": [
147,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
59,
13
]
} |
Polymorphisms of N-acetyltransferase 2, glutathione S-transferase mu and theta genes as risk factors of bladder cancer in relation to asthma and tuberculosis. | genomic_alterations | {
"id": 27306,
"name": "HPGDS",
"pos": [
40,
25
]
} | {
"id": "C0004096",
"name": "Asthma",
"pos": [
134,
6
]
} |
We find enrichment in the Her2 subtype and ductal carcinoma among those observations exhibiting greater cluster correspondence across expression and CNA data. | genomic_alterations | {
"id": 2064,
"name": "ERBB2",
"pos": [
26,
4
]
} | {
"id": "C1527349",
"name": "Ductal Breast Carcinoma",
"pos": [
43,
16
]
} |
Taken together, our data indicate that newly identified NUP98-IQCG fusion protein may play an essential role in leukemogenesis, but by itself may not be sufficient to induce leukemia. | NA | {
"id": 84223,
"name": "IQCG",
"pos": [
62,
4
]
} | {
"id": "C0023418",
"name": "leukemia",
"pos": [
174,
8
]
} |
Pediatric GBMs have a distinctive molecular pathogenesis, as H3F3A and DAXX mutations are frequent, and their gene expression profile is different than adult GBMs. | genomic_alterations | {
"id": 3020,
"name": "H3-3A",
"pos": [
61,
5
]
} | {
"id": "C1621958",
"name": "Glioblastoma Multiforme",
"pos": [
158,
3
]
} |
We also screened 408 sporadic patients with CHDs and identified a case with ASD and a 17-bp deletion in ACTC1 predicting a non-functional protein. | NA | {
"id": 70,
"name": "ACTC1",
"pos": [
104,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
21,
8
]
} |
We have identified a mechanism for FFR involving heart rate dependent phosphorylation of the major cardiac sarcoplasmic reticulum calcium release channel/ryanodine receptor (RyR2), at Ser2814, by calcium/calmodulin-dependent serine/threonine kinase-delta (CaMKIIdelta). | NA | {
"id": 738,
"name": "VPS51",
"pos": [
35,
3
]
} | {
"id": "C0018810",
"name": "heart rate",
"pos": [
49,
10
]
} |
Furthermore, 20q13 correlated, as did MDM2 amplification, to aneuploidy. | NA | {
"id": 4193,
"name": "MDM2",
"pos": [
38,
4
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
61,
10
]
} |
In the current review, we describe recent progress on regulation and signaling of IL-17A, and highlight its impacts on lipid metabolism and atherosclerosis. | biomarker | {
"id": 3605,
"name": "IL17A",
"pos": [
82,
6
]
} | {
"id": "C0004153",
"name": "Atherosclerosis",
"pos": [
140,
15
]
} |
The majority of eosinophilic stratified (4/6; 67%) and eosinophilic papillary (12/14; 86%) cases were positive for CK7 and had variable staining for AMACR, CD10, or CAIX, suggesting a differentiation more aligned with papillary renal cell carcinoma. | biomarker | {
"id": 23600,
"name": "AMACR",
"pos": [
149,
5
]
} | {
"id": "C1306837",
"name": "Papillary Renal Cell Carcinoma",
"pos": [
218,
30
]
} |
Older patients (n = 8 studies; OR: 1.05, 95% CI: 1.03-1.08/year), non-compliant ones (n = 11; 1.51, 1.06-2.16), diabetics (n = 7; 1.80, 1.26-2.57), those with IL-1-polymorphism (n = 3; 1.80; 1.29-2.52) and smokers (n = 15; 1.98, 1.58-2.48) had a significantly higher risk of tooth loss. | genomic_alterations | {
"id": 3552,
"name": "IL1A",
"pos": [
159,
4
]
} | {
"id": "C0080233",
"name": "Tooth Loss",
"pos": [
275,
10
]
} |
Surgery, chemotherapy, and radiotherapy have been the standard treatment for lung cancer, and targeted molecular therapy has greatly improved the clinical course of patients with non-small-cell lung cancer (NSCLC) harboring driver mutations, such as in epidermal growth factor receptor and anaplastic lymphoma kinase genes. | genomic_alterations | {
"id": 238,
"name": "ALK",
"pos": [
290,
26
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
77,
11
]
} |
Rare germline variants of CYP11B2 (encoding aldosterone synthase), CLCN2 (encoding voltage-gated chloride channel ClC-2), KCNJ5, CACNA1H (encoding a subunit of T-type voltage-gated calcium channel Ca<sub>V</sub>3.2), and CACNA1D have been reported in different subtypes of familial hyperaldosteronism. | genomic_alterations | {
"id": 1181,
"name": "CLCN2",
"pos": [
67,
5
]
} | {
"id": "C3713420",
"name": "Familial Hyperaldosteronism",
"pos": [
285,
27
]
} |
In multivariate analyses adjusted for critical factors such as IL28B genotype and baseline viral load, presence of significant fibrosis (Ishak stage > 2) was found to independently reduce the odds of achieving an initial reduction (calculated from day 0 to day 4) in HCV RNA of ≥2 logIU/mL (adjusted OR 0.03, P = 0.004) but was not associated with the second-phase slope of viral decline (calculated from day 8 to day 29). | NA | {
"id": 282617,
"name": "IFNL3",
"pos": [
63,
5
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
127,
8
]
} |
Aberrant methylation of Reprimo was present in 32% (six of 19) of non-small cell lung cancer (NSCLC) cell lines, 6% (one of 16) of small cell lung cancer (SCLC) cell lines, and 31% (51 of 167) of primary tumors. | NA | {
"id": 56475,
"name": "RPRM",
"pos": [
24,
7
]
} | {
"id": "C0007131",
"name": "Non-Small Cell Lung Carcinoma",
"pos": [
66,
26
]
} |
Spitz naevi from 32 (63%) patients did not show cytogenetic abnormalities (FISH-). | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
75,
4
]
} | {
"id": "C0027962",
"name": "Melanocytic nevus",
"pos": [
6,
5
]
} |
Mantle cell lymphoma is characterized by the t(11;14) chromosomal translocation, resulting in the overexpression of cyclin D1 (CycD1). | NA | {
"id": 595,
"name": "CCND1",
"pos": [
116,
9
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
54,
25
]
} |
Thus, inhibition COX-2/PGE2 signaling will likely be beneficial in the treatment of EOC. | biomarker | {
"id": 4513,
"name": "COX2",
"pos": [
17,
5
]
} | {
"id": "C0677886",
"name": "Epithelial ovarian cancer",
"pos": [
84,
3
]
} |
The finding of deleterious MAGMAS mutations in an early lethal skeletal dysplasia supports a key role for this mitochondrial protein in the ossification process. | NA | {
"id": 51025,
"name": "PAM16",
"pos": [
27,
6
]
} | {
"id": "C4021626",
"name": "Lethal skeletal dysplasia",
"pos": [
56,
25
]
} |
The mRNA levels of HIF-1alpha were unchanged whether or not DHEA was applied under chemical and gas hypoxia, as compared to controls in normoxia, suggesting a post-transcriptional effect of the steroid. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
19,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
100,
7
]
} |
Resveratrol, an activator of SIRT1, upregulates AMPK and improves cardiac function in heart failure. | therapeutic | {
"id": 23411,
"name": "SIRT1",
"pos": [
29,
5
]
} | {
"id": "C0023212",
"name": "Left-Sided Heart Failure",
"pos": [
86,
13
]
} |
Association with the β2 -GPI phenotype was investigated through variance component analysis, and the most significant results were followed up for association with coronary artery disease (CAD) in an independent in silico analysis involving 5765 CAD cases from the PROCARDIS Project and 7264 controls from the PROCARDIS Project and the Wellcome Trust Case Control Consortium (WTCCC) collection. | NA | {
"id": 10007,
"name": "GNPDA1",
"pos": [
25,
3
]
} | {
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
164,
23
]
} |
The consequence of GLIPR1 on growth of lung cancer cells in the tissue culture and lung tumor xenografts in the nude mice was observed. | biomarker | {
"id": 11010,
"name": "GLIPR1",
"pos": [
19,
6
]
} | {
"id": "C0024121",
"name": "Lung Neoplasms",
"pos": [
83,
10
]
} |
Immunohistochemistry for DAF and C3 and nonradioactive in situ hybridization with digoxigenin-labeled oligonucleotide probe for DAF and C3 mRNA were performed in 22 tissue samples of kidneys from patients with IgA nephropathy (IgAN), 6 with membranous nephropathy (MN), 6 with lupus nephritis (LN), and five normal kidneys. | NA | {
"id": 1604,
"name": "CD55",
"pos": [
128,
3
]
} | {
"id": "C0017665",
"name": "Membranous glomerulonephritis",
"pos": [
241,
22
]
} |
In addition, PDE4D inhibitors decreased the weight of the prostate in wild-type mice. | NA | {
"id": 5144,
"name": "PDE4D",
"pos": [
13,
5
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
44,
6
]
} |
The silencing of TIMP‑2 suppressed cancer cell invasion and the activation of pro‑matrix metalloproteinase‑2 (pro‑MMP‑2). | biomarker | {
"id": 7077,
"name": "TIMP2",
"pos": [
17,
6
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
35,
6
]
} |
IgH partner breakpoint sequences provide evidence that AID initiates t(11;14) and t(8;14) chromosomal breaks in mantle cell and Burkitt lymphomas. | NA | {
"id": 57379,
"name": "AICDA",
"pos": [
55,
3
]
} | {
"id": "C0333704",
"name": "Chromosome Breaks",
"pos": [
90,
18
]
} |
Twenty-one cases (9%) were initially misclassified, including the following: 13 presenting with skin +/- peripheral blood involvement and misclassified as mycosis fungoides/Sezary syndrome; 7 with lymphomatous disease, absence of leukemic involvement, and diffuse CD30 expression, misclassified as ALK- negative anaplastic large-cell lymphoma; 1 thought to represent T-prolymphocytic leukemia with TCL-1 gene rearrangement and diffuse marrow involvement. | genomic_alterations | {
"id": 9623,
"name": "TCL1B",
"pos": [
398,
5
]
} | {
"id": "C1332078",
"name": "Anaplastic large cell lymphoma, ALK negative",
"pos": [
298,
44
]
} |
Control cells showed a round shape and contained normal-looking organelles, nucleus, and chromatin, while adenovirus PI3K(I)-RNAi-GFP (50 MOI)-treated cells exhibited the typical signs of autophagy. | NA | {
"id": 5290,
"name": "PIK3CA",
"pos": [
117,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
106,
10
]
} |
SMYD3 contributes to a more aggressive phenotype of prostate cancer and targets Cyclin D2 through H4K20me3. | biomarker | {
"id": 894,
"name": "CCND2",
"pos": [
80,
9
]
} | {
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
52,
15
]
} |
A 30-year-old male patient, with a history of genital malformations, a Wilms tumor manifested during the treatment of acute lymphoid leukemia (ALL) at the age of 4, and a cerebellar angioblastoma, was referred with proteinuria and a reduced glomerular filtration rate (GFR).Kidney biopsy revealed FSGS. | biomarker | {
"id": 81,
"name": "ACTN4",
"pos": [
297,
4
]
} | {
"id": "C1332900",
"name": "Cerebellar hemangioblastoma",
"pos": [
171,
24
]
} |
We identified inactivation of another member of the SWI/SNF chromatin-remodeling complex, its ATPase subunit SMARCA4 (also known as BRG1), due to a SMARCA4/BRG1 germline mutation and loss of heterozygosity by uniparental disomy in the tumor cells of two sisters with rhabdoid tumors lacking SMARCB1 mutations. | NA | {
"id": 6597,
"name": "SMARCA4",
"pos": [
156,
4
]
} | {
"id": "C0949628",
"name": "Uniparental Disomy",
"pos": [
209,
18
]
} |
Multivariate analyses demonstrated tumor location (hazard ratio [HR], 6.07, 95% confidence interval [CI], 1.57-23.44, p = 0.009), resection status (HR, 6.58, 95% CI, 1.92-22.51, p = 0.003) and EGFR mutational status (HR, 0.18, 95% CI, 0.04-0.75, p = 0.018) were independent prognostic factors for OS. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
193,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
35,
5
]
} |
Our data strongly support the candidacy of MPDZ as a novel congenital hydrocephalus disease gene. | NA | {
"id": 84708,
"name": "LNX1",
"pos": [
43,
4
]
} | {
"id": "C0020256",
"name": "Congenital Hydrocephalus",
"pos": [
59,
24
]
} |
These data indicate that the expression of the HBx gene in HCC may play an important role in hepatocarcinogenesis. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
59,
3
]
} | {
"id": "C1512409",
"name": "Hepatocarcinogenesis",
"pos": [
93,
20
]
} |
We sought to investigate whether genetic variation in GSNOR is associated with childhood asthma and atopy. | NA | {
"id": 128,
"name": "ADH5",
"pos": [
54,
5
]
} | {
"id": "C0264408",
"name": "Childhood asthma",
"pos": [
79,
16
]
} |
Acute myeloid leukemia (AML) with translocation t(8;16)(p11;p13) is an infrequent leukemia subtype with characteristic clinicobiological features. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
60,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
34,
13
]
} |
To analyze the profile of the HLA-B27 and B7 cross-reactive group (CREG) alleles and the role of these markers in disease characterization and progression in patients with undifferentiated spondyloarthropathies (uSpA). | NA | {
"id": 8804,
"name": "CREG1",
"pos": [
67,
4
]
} | {
"id": "C0949691",
"name": "Spondylarthropathies",
"pos": [
189,
21
]
} |
t(9;11)(p22;p15) in acute myeloid leukemia results in a fusion between NUP98 and the gene encoding transcriptional coactivators p52 and p75-lens epithelium-derived growth factor (LEDGF). | genomic_alterations | {
"id": 11168,
"name": "PSIP1",
"pos": [
128,
3
]
} | {
"id": "C0023467",
"name": "Leukemia, Myelocytic, Acute",
"pos": [
20,
22
]
} |
Mutations in MSX1, PAX9, AXIN2 and the ectodermal dysplasia genes EDA, EDAR and EDARADD have been detected in familial severe tooth agenesis. | NA | {
"id": 8313,
"name": "AXIN2",
"pos": [
25,
5
]
} | {
"id": "C4083050",
"name": "Tooth agenesis",
"pos": [
126,
14
]
} |
Pretreatment of the animals with BbCI (2.5 mg·kg(-1)), 30 min before carrageenan-induced inflammation, effectively reduced paw oedema and bradykinin release, neutrophil migration into the pleural cavity. | therapeutic | {
"id": 3827,
"name": "KNG1",
"pos": [
143,
10
]
} | {
"id": "C0013604",
"name": "Edema",
"pos": [
132,
6
]
} |
CTLA-4 +49 and TNF-alpha-308 gene polymorphisms in celiac patients with exocrine pancreatic insufficiency. | NA | {
"id": 1493,
"name": "CTLA4",
"pos": [
0,
6
]
} | {
"id": "C0267963",
"name": "Exocrine pancreatic insufficiency",
"pos": [
72,
33
]
} |
ILD were diagnosed clinically in nine infants: four, three, and two had interstitial pneumonitis, hereditary pulmonary alveolar proteinosis (hPAP), and alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV), respectively. | NA | {
"id": 54,
"name": "ACP5",
"pos": [
141,
4
]
} | {
"id": "C0206061",
"name": "Pneumonia, Interstitial",
"pos": [
72,
24
]
} |
Analysis of large-scale melanoma exome data by this approach discovered six novel melanoma genes (PPP6C, RAC1, SNX31, TACC1, STK19, and ARID2), three of which-RAC1, PPP6C, and STK19-harbored recurrent and potentially targetable mutations. | NA | {
"id": 6867,
"name": "TACC1",
"pos": [
118,
5
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
82,
8
]
} |
Recessive p.R56W CRYAB mutation shows variable expressivity for lens opacity. | NA | {
"id": 1410,
"name": "CRYAB",
"pos": [
17,
5
]
} | {
"id": "C1861403",
"name": "Variable expressivity",
"pos": [
38,
21
]
} |
Colorectal cancer (CRC) is characterised by hypoxia, which activates gene transcription through hypoxia-inducible factors (HIF), as well as by expression of epidermal growth factor (EGF) and EGF receptors, targeting of which has been demonstrated to provide therapeutic benefit in CRC. | NA | {
"id": 1950,
"name": "EGF",
"pos": [
182,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
96,
7
]
} |
DGI type I is the oral manifestation of osteogenesis imperfecta (OI), a systemic disease typically caused by defects in COL1A1 or COL1A2. | genomic_alterations | {
"id": 1277,
"name": "COL1A1",
"pos": [
120,
6
]
} | {
"id": "C0029434",
"name": "Osteogenesis Imperfecta",
"pos": [
40,
23
]
} |
This study aimed to investigate the association between the genotypes of CYP2D6, CYP3A4, and CYP2C9 genes to the clinical efficacy and tolerability of cholinesterase inhibitors (ChEIs) in Chinese patients with AD. | genomic_alterations | {
"id": 1576,
"name": "CYP3A4",
"pos": [
81,
6
]
} | {
"id": "C0002395",
"name": "Alzheimer's Disease",
"pos": [
210,
2
]
} |
Our results suggest that the decrease in hepatic SR-BI levels due to LPS and cytokines during infection and inflammation may decrease selective uptake of cholesteryl ester into the liver and result in impaired reverse cholesterol transport. | NA | {
"id": 949,
"name": "SCARB1",
"pos": [
49,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
108,
12
]
} |
Protective CD8+ T-cell immunity to human malaria induced by chimpanzee adenovirus-MVA immunisation. | NA | {
"id": 925,
"name": "CD8A",
"pos": [
11,
3
]
} | {
"id": "C0024530",
"name": "Malaria",
"pos": [
41,
7
]
} |
We did not confirm the association of early overgrowth with involvement of YWHAE and CRK, or growth failure with duplications of LIS1. | NA | {
"id": 1398,
"name": "CRK",
"pos": [
85,
3
]
} | {
"id": "C1849265",
"name": "Overgrowth",
"pos": [
44,
10
]
} |
Our data show no difference between familial and sporadic PTC with respect to telomere length, TERT copy number, or expression in our cohort. | NA | {
"id": 7015,
"name": "TERT",
"pos": [
95,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
49,
8
]
} |
To examine functional interleukin-6 (IL-6) -174 G-->C allelic variants in relation to bone turnover and bone mineral density (BMD) in postmenopausal women. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
37,
4
]
} | {
"id": "C0005938",
"name": "Bone Density",
"pos": [
104,
20
]
} |
The results were substantially the same when a preterm spontaneous labour group (PTL) (n=26), exclusive of deliveries complicated by pre-eclampsia (n=1) or intrauterine growth restriction (n=3), was compared to the CST and SLT groups. | NA | {
"id": 84539,
"name": "MCHR2",
"pos": [
223,
3
]
} | {
"id": "C0015934",
"name": "Fetal Growth Retardation",
"pos": [
156,
31
]
} |
We conclude that a diverse spectrum of mutations in the HSD3B7 gene underlies this rare form of neonatal cholestasis. | genomic_alterations | {
"id": 80270,
"name": "HSD3B7",
"pos": [
56,
6
]
} | {
"id": "C1112213",
"name": "Cholestasis in newborn",
"pos": [
96,
20
]
} |
A focused survey of BRCA1-regulated genes in prostate carcinoma reveals that multiple regulators of genome stability and cell-cycle control, including BLM, FEN1, DDB2, H3F3B, BRCA2, CCNB2, MAD2L1, and GADD153, are direct transcriptional targets of BRCA1. | NA | {
"id": 9133,
"name": "CCNB2",
"pos": [
182,
5
]
} | {
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
45,
18
]
} |
Our results indicate that a major region of LOH in cervical cancer exists within a 3.6-Mb stretch of DNA on 11q23.3-q24.1 and that somatic mutations in RNF26, USP2, TRIM29, POU2F3, or PPP2R1B probably are not important for cervical carcinogenesis. | NA | {
"id": 9099,
"name": "USP2",
"pos": [
159,
4
]
} | {
"id": "C4048328",
"name": "cervical cancer",
"pos": [
51,
15
]
} |
Our results suggest that renal injury in PGD is associated with ER stress and ER stress may be involved in the rapid progression of PGN to renal failure. | NA | {
"id": 5226,
"name": "PGD",
"pos": [
41,
3
]
} | {
"id": "C0035078",
"name": "Kidney Failure",
"pos": [
139,
13
]
} |
The aim of this study was to determine whether tagging single nucleotide polymorphisms (tSNPs) of MCHR2 and MCHR2-AS1 are associated with the body mass index (BMI) in the psychiatric and in the general population. | NA | {
"id": 84539,
"name": "MCHR2",
"pos": [
98,
5
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
142,
15
]
} |
Mutations in G6PC3 have been identified as the cause of neutropenia in a minority of previously molecularly undefined cases. | genomic_alterations | {
"id": 92579,
"name": "G6PC3",
"pos": [
13,
5
]
} | {
"id": "C0023530",
"name": "Leukopenia",
"pos": [
56,
11
]
} |
Although the follow-up time to date is still short, clinical outcome suggests that low-level overexpression of the MYCN gene does not enhance tumour aggressiveness and rapidity of disease progression, as is often seen in neuroblastoma with MYCN amplification. | NA | {
"id": 4613,
"name": "MYCN",
"pos": [
240,
4
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
149,
14
]
} |
These data suggest that the AGT gene could be involved in the predisposition to high blood pressure in non-overweight, but not in overweight men, possibly reflecting genetically different types of hypertension. | NA | {
"id": 183,
"name": "AGT",
"pos": [
28,
8
]
} | {
"id": "C0497406",
"name": "Overweight",
"pos": [
130,
10
]
} |
Two lines of SV40-transformed hamster cells also showed UND+ following tumorigenesis in weaning hamsters. | NA | {
"id": 7373,
"name": "COL14A1",
"pos": [
56,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
71,
13
]
} |
Microarray analysis of the mammary tumor cell lines identified a Brd4 activation signature that robustly predicted progression and/or survival in multiple human breast cancer datasets analyzed on different microarray platforms. | NA | {
"id": 23476,
"name": "BRD4",
"pos": [
65,
4
]
} | {
"id": "C0024667",
"name": "Animal Mammary Neoplasms",
"pos": [
27,
13
]
} |
Finally, we showed that, in 2,864 women, six genomic loci previously associated with both naevus count and melanoma risk (IRF4, DOCK8, MTAP, 9q31.2, KITLG and PLA2G6) have an effect on naevus count that is body site-specific, but whose effect sizes are predominantly stronger on the lower limbs. | biomarker | {
"id": 4254,
"name": "KITLG",
"pos": [
149,
5
]
} | {
"id": "C1456781",
"name": "Benign melanocytic nevus",
"pos": [
185,
6
]
} |
Loss of SIRT6 induces epigenetic changes that may be relevant to chronic liver disease and HCC development. | biomarker | {
"id": 51548,
"name": "SIRT6",
"pos": [
8,
5
]
} | {
"id": "C0341439",
"name": "Chronic liver disease",
"pos": [
65,
21
]
} |
There was a significant down-regulation of the Ghsr expression in the ventral tegmental area (VTA) in high- compared to low-alcohol consuming rats after approximately ten months of voluntary alcohol consumption. | NA | {
"id": 2693,
"name": "GHSR",
"pos": [
47,
4
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
191,
19
]
} |
PLZF mediates the PTEN/AKT/FOXO3a signaling in suppression of prostate tumorigenesis. | NA | {
"id": 207,
"name": "AKT1",
"pos": [
23,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
71,
13
]
} |
Because CAKUT is the leading cause of ESRD in children and HNF1B mutations can cause both renal hypodysplasia and diabetes, HNF1B mutations may account for a portion of the cases of NODAT in pediatric patients who have undergone kidney transplantation. | genomic_alterations | {
"id": 6928,
"name": "HNF1B",
"pos": [
59,
5
]
} | {
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
114,
8
]
} |
Patients suffering from the rare hereditary disease hypophosphatasia (HPP), which is based on mutations in the ALPL gene, tend to develop central nervous system (CNS) related issues like epileptic seizures and neuropsychiatric illnesses such as anxiety and depression, in addition to well-known problems with the mineralization of bones and teeth. | NA | {
"id": 780897,
"name": "HPP1",
"pos": [
70,
3
]
} | {
"id": "C0020630",
"name": "Hypophosphatasia",
"pos": [
52,
16
]
} |
Currently, there is a trend towards an increasing use of liquid-based cytology (LBC) to diagnose non-small cell lung cancer. | NA | {
"id": 11214,
"name": "AKAP13",
"pos": [
80,
3
]
} | {
"id": "C0007131",
"name": "Non-Small Cell Lung Carcinoma",
"pos": [
97,
26
]
} |
In light of our findings, we suggest that suppression of BRCA1 has a role to play in progression of a significant fraction of sporadic breast cancers and may additionally prove to be a useful, novel, prognostic marker for this disease type. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
57,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
126,
8
]
} |
Subsets and Splits