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Six cell clones were identified with retroviral genome integrations in the same orientation in a single locus, designated breast cancer antiestrogen resistance locus-1 (bcar-1). | genomic_alterations | {
"id": 9564,
"name": "BCAR1",
"pos": [
169,
6
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
122,
13
]
} |
Because the minor wing of SRY folds on DNA binding, the inherited mutation presumably hinders induced fit. | NA | {
"id": 6736,
"name": "SRY",
"pos": [
26,
3
]
} | {
"id": "C0036572",
"name": "Seizures",
"pos": [
102,
3
]
} |
Using data from the Tennessee Colorectal Polyp Study, a large colonoscopy-based study, including 1,002 polyp cases (557 adenoma only, 250 hyperplastic polyp only, 195 both polyps) and 1,493 polyp-free patients, we evaluated the association of colorectal polyp risk with carcinogen exposure from meat and genetic polymorphisms in enzymes involved in heterocyclic amine (HCA) metabolism, including N-acetyltransferase 1 (NAT1) and N-acetyltransferase 2 (NAT2), cytochrome P450 1A2 (CYP1A2), and aryl hydrocarbon receptor (AhR). | NA | {
"id": 196,
"name": "AHR",
"pos": [
493,
25
]
} | {
"id": "C0001430",
"name": "Adenoma",
"pos": [
120,
7
]
} |
The TCAP was analyzed in 346 patients with HCM (236 familial and 110 sporadic cases) and 136 patients with DCM (34 familial and 102 sporadic cases). | NA | {
"id": 8557,
"name": "TCAP",
"pos": [
4,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
132,
8
]
} |
In Cox multivariate analysis CA IX expression, patient age and histological component (pure oligodendroglioma vs. mixed oligoastrocytoma) showed independent prognostic values (p = 0.009, p = 0.003 and p = 0.022, respectively), CA IX positivity predicting poorer outcome. | NA | {
"id": 768,
"name": "CA9",
"pos": [
227,
5
]
} | {
"id": "C0547065",
"name": "Mixed oligoastrocytoma",
"pos": [
114,
22
]
} |
While hypoxia induced clear changes in actin organization compared with parallel normoxic cultures of neuroblastoma, the precise role of tropomyosins in this hypoxic actin reorganization remains to be determined. | biomarker | {
"id": 83667,
"name": "SESN2",
"pos": [
6,
15
]
} | {
"id": "C4086165",
"name": "Childhood Neuroblastoma",
"pos": [
102,
13
]
} |
In our experience, detection of 8q24 abnormalities could be optimized by a two-probe approach involving the application of both IGH-MYC dual-fusion and MYC break-apart selected kits. | NA | {
"id": 3492,
"name": "IGH",
"pos": [
128,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
37,
13
]
} |
Experimental results on cancer data sets show that the NPPC ensemble offers comparable testing accuracy to that of SVM ensemble with reduced training time on average. | NA | {
"id": 4880,
"name": "NPPC",
"pos": [
55,
4
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
24,
6
]
} |
In our previous study, we demonstrated MARCH7 promoted malignant behavior of ovarian cancer via the nuclear factor (NF)-κB and Wnt/β-catenin signaling pathway. | biomarker | {
"id": 64844,
"name": "MARCHF7",
"pos": [
39,
6
]
} | {
"id": "C1140680",
"name": "Malignant neoplasm of ovary",
"pos": [
77,
14
]
} |
The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar overgrowth condition resembling Sotos Syndrome as well as in patients with Marshall-Smith syndrome. | NA | {
"id": 4782,
"name": "NFIC",
"pos": [
67,
3
]
} | {
"id": "C1849265",
"name": "Overgrowth",
"pos": [
153,
10
]
} |
In conclusion, the P209L mutation in Bag3 does not cause cardiomyopathy in mice up to 16 mo of age under baseline conditions. | genomic_alterations | {
"id": 9531,
"name": "BAG3",
"pos": [
37,
4
]
} | {
"id": "C0878544",
"name": "Cardiomyopathies",
"pos": [
57,
14
]
} |
Inhaled irritants activate transient receptor potential ankyrin-1 (TRPA1), resulting in cough, bronchoconstriction, and inflammation/edema. | NA | {
"id": 8989,
"name": "TRPA1",
"pos": [
67,
5
]
} | {
"id": "C0013604",
"name": "Edema",
"pos": [
133,
5
]
} |
Phosphorylation of PLB, induced by forskolin, caused an increase in FRET from CFP-SERCA to YFP-PLB, indicating that SERCA inhibition can be relieved without dissociation of the complex. | NA | {
"id": 5199,
"name": "CFP",
"pos": [
78,
3
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
157,
12
]
} |
Macrophage migration inhibitory factor (MIF) is a pleiotropic cytokine that regulates innate and adaptive immune responses to bacterial and parasitic infections. | NA | {
"id": 4282,
"name": "MIF",
"pos": [
40,
3
]
} | {
"id": "C0030499",
"name": "Parasitic Diseases",
"pos": [
140,
20
]
} |
To investigate functional abnormalities in mutations in the peripherin (RDS) gene leading to different clinical types of autosomal dominant retinal disease--macular degeneration and retinitis pigmentosa. | NA | {
"id": 5630,
"name": "PRPH",
"pos": [
60,
10
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
26,
13
]
} |
Although only low or undetectable amounts of IL9 mRNA and IL-9 protein were present in nonatopic control subjects and atopic asthmatic patients at baseline, there was an increase after segmental allergen challenge in the atopic subjects. | NA | {
"id": 3578,
"name": "IL9",
"pos": [
58,
4
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
221,
6
]
} |
One patient belonging to the TC2 group overexpressed cyclin D1 and lacked both trisomy and translocation, suggesting that cyclin D1 can be dysregulated by additional mechanisms. | NA | {
"id": 595,
"name": "CCND1",
"pos": [
122,
9
]
} | {
"id": "C0041107",
"name": "Trisomy",
"pos": [
79,
7
]
} |
Patients with no flow-limiting stenosis after MI had increased frequencies of 2 inherited thrombophilias (Factor V Leiden and beta-fibrinogen 448 A allele), and there was a trend toward an increased frequency of prothrombin variant G20210A compared with patients with > or =1 stenosis. | genomic_alterations | {
"id": 2244,
"name": "FGB",
"pos": [
126,
15
]
} | {
"id": "C0027051",
"name": "Myocardial Infarction",
"pos": [
46,
2
]
} |
Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene. | genomic_alterations | {
"id": 3767,
"name": "KCNJ11",
"pos": [
256,
6
]
} | {
"id": "C0014548",
"name": "Epilepsy, Generalized",
"pos": [
172,
20
]
} |
Mutations in the fms-like tyrosine kinase 3 (FLT3) gene, such as internal tandem duplication (FLT3/ITD) in the juxtamembrane domain and point mutations in the tyrosine kinase domain, are the most common abnormalities in acute myeloid leukemia (AML). | NA | {
"id": 2322,
"name": "FLT3",
"pos": [
94,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
203,
13
]
} |
To more fully understand the function of posttranslational regulation of GCK, we examined two naturally occurring GCK mutations that map to residues proximal to the S-nitrosylated cysteine and cause mild fasting hyperglycemia (maturity-onset diabetes of the young; subtype glucokinase). | NA | {
"id": 2645,
"name": "GCK",
"pos": [
114,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
199,
4
]
} |
Flow cytometric MRD detection by the establishment of a leukemia-associated phenotype (LAP) at diagnosis can be used in 80% of AML patients, allowing detection and functional characterization of MRD in follow-up bone marrow. | NA | {
"id": 53,
"name": "ACP2",
"pos": [
87,
3
]
} | {
"id": "C0023418",
"name": "leukemia",
"pos": [
56,
8
]
} |
Primary lung adenocarcinoma with morule-like components: a unique histologic hallmark of aggressive behavior and EGFR mutation. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
113,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
8,
19
]
} |
These methylation epigenotypes, with specific genomic aberrations, are mostly completed by the adenoma stage, and additional molecular aberration, such as TP53 mutation, is suggested to lead to cancer development with the corresponding epigenotype. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
155,
4
]
} | {
"id": "C0001430",
"name": "Adenoma",
"pos": [
95,
7
]
} |
In an analysis stratified by ENPP1, rs1974201 polymorphism, circulating levels of TIMP-1 in GG patients were coherently associated with two markers of concentric remodelling [relative wall thickness (RWT) and LV mass-to-volume ratio] as well as with a marker of diastolic dysfunction (E/A ratio) (P ranging from 0.005 to 0.02), whereas no such associations existed in CC or CG patients. | NA | {
"id": 5167,
"name": "ENPP1",
"pos": [
29,
5
]
} | {
"id": "C0520863",
"name": "Diastolic dysfunction",
"pos": [
262,
21
]
} |
We have determined the allelotypes of 215 established lung cancer cell lines by PCR analysis at six loci on the short arm of chromosome 3 (3p): D3S3 (3p12-p13), D3S30 (3p13), D3S2 (3p14-p21.1), D3S32 (3p21), D3F15S2 (3p21), and THRB (3p24). | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
155,
3
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
54,
11
]
} |
The father had similar findings, but additionally displayed corneal clouding and pannus, decreased best-corrected visual acuity, and his ERG demonstrated a larger reduction in ERG cone-driven responses. | NA | {
"id": 2078,
"name": "ERG",
"pos": [
176,
3
]
} | {
"id": "C0010038",
"name": "Corneal Opacity",
"pos": [
60,
16
]
} |
Upon infusion of des-(741-1668)-factor VIII at a dosage of 50 units/kg body weight, a rise of 1.0 +/- 0.3 unit/ml in factor VIII activity was obtained. | NA | {
"id": 2157,
"name": "F8",
"pos": [
32,
11
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
71,
11
]
} |
The differential response to treatment with TNF-α or IL-1 blocking agents sheds light into disease pathogenesis; it supports the hypothesis that Majeed syndrome is an IL-1β dependent autoinflammatory disorder, and further underscores the importance of IL-1 in sterile bone inflammation. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
44,
5
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
260,
7
]
} |
The SNP adjacent to DICER1 also showed osteoblast cis-regulatory activity of GSC, in which mutations have previously been reported to cause hip dysplasia. | genomic_alterations | {
"id": 145258,
"name": "GSC",
"pos": [
77,
3
]
} | {
"id": "C1328407",
"name": "Hip Dysplasia",
"pos": [
140,
13
]
} |
Vaccination with tumor cells expressing IL-15 and IL-15Rα inhibits murine breast and prostate cancer. | biomarker | {
"id": 3601,
"name": "IL15RA",
"pos": [
50,
7
]
} | {
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
85,
15
]
} |
The aim of this study was to evaluate improvement in reproducibility of SWE, using the propagation display method in normal pancreas ([NP] phase 1) and to examine the differences in PEM between NP and chronic pancreatitis (CP), intraductal papillary mucinous neoplasm (IPMN) and autoimmune pancreatitis ([AIP] phase 2). | biomarker | {
"id": 9049,
"name": "AIP",
"pos": [
305,
3
]
} | {
"id": "C2609129",
"name": "Autoimmune pancreatitis",
"pos": [
279,
23
]
} |
This mutational pattern is comparable with the pattern of p53 mutations in squamous cell and basal cell carcinomas of the skin and is related to exposure to ultraviolet B (UV-B) wavelength radiation. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
58,
3
]
} | {
"id": "C4721806",
"name": "Carcinoma, Basal Cell",
"pos": [
93,
21
]
} |
The in vivo effect of recombinant human erythropoietin (rHuEpo) and granulocyte colony-stimulating factor (G-CSF) combined treatment on CD34(+) cells was evaluated by fluorescence in situ hybridization (FISH) in 13 myelodysplastic syndrome (MDS) patients with known cytogenetic abnormalities. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
203,
4
]
} | {
"id": "C3463824",
"name": "MYELODYSPLASTIC SYNDROME",
"pos": [
215,
24
]
} |
A total of 58 thymoma patients with MG (23 GMG and 35 OMG) and 73 thymoma patients without MG were analyzed using immunohistochemistry for CD4, CD25, Foxp3 and CXCL13. | NA | {
"id": 4974,
"name": "OMG",
"pos": [
54,
3
]
} | {
"id": "C0040100",
"name": "Thymoma",
"pos": [
66,
7
]
} |
Initial damage may evoke irreversible scarring, which involves production of a number of proinflammatory and fibrogenic cytokines, including platelet-derived growth factor (PDGF) and transforming growth factor beta (TGF-beta). | NA | {
"id": 7040,
"name": "TGFB1",
"pos": [
216,
8
]
} | {
"id": "C2004491",
"name": "Cicatrix",
"pos": [
38,
8
]
} |
Genetic polymorphisms associated with PD (<i>LRRK2, GBA, PINK1, SPG11, SNCA</i>) increase availability of lipids within human cells, providing a suitable environment for <i>Malassezia</i>. | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
51,
5
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
38,
2
]
} |
Overexpression of ZBTB4 or restoration of ZBTB4 by using an antagomir inhibit growth and invasion of breast cancer cells, and this effect is due, in part, to ZBTB4-dependent repression of the specificity protein 1 (Sp1), Sp3 and Sp4 genes, and subsequent downregulation of several Sp-dependent oncogenes, in part, through competition between ZBTB4 and Sp transcription factors for GC-rich promoter sequences. | NA | {
"id": 6671,
"name": "SP4",
"pos": [
229,
3
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
101,
13
]
} |
The mechanisms responsible for the low factor VIII (fVIII) activity in the plasma of patients with mild/moderate hemophilia A are poorly understood. | NA | {
"id": 2157,
"name": "F8",
"pos": [
39,
11
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
99,
4
]
} |
Undercarboxylated matrix Gla protein, osteocalcin, and periostin appear to be responsible for these defects which are also observed in cases of fetal warfarin syndrome. | NA | {
"id": 4256,
"name": "MGP",
"pos": [
18,
18
]
} | {
"id": "C0265374",
"name": "Warfarin syndrome",
"pos": [
144,
23
]
} |
We explored cell-to-cell communication between 435 carcinoma cells and a human osteoblastic cell line, hFOB1.19, to determine whether carcinoma cells can form gap junctions with bone cells and to explore the role of these heterotypic gap junctions and the BRMS1 gene in breast cancer metastasis to bone. | NA | {
"id": 25855,
"name": "BRMS1",
"pos": [
256,
10
]
} | {
"id": "C0007097",
"name": "Carcinoma",
"pos": [
134,
9
]
} |
These findings thus reveal EB1 as a critical regulator of paclitaxel sensitivity and have important implications in breast cancer chemotherapy. | NA | {
"id": 56899,
"name": "ANKS1B",
"pos": [
27,
3
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
116,
13
]
} |
The ABCB1 genotype CC was associated with lymph node formation (p = 0.012) and distant metastases (p = 0.019). | genomic_alterations | {
"id": 5243,
"name": "ABCB1",
"pos": [
4,
5
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
87,
10
]
} |
In human cancer, ARID1A possesses not only features of a gatekeeper, regulating cell cycle progression, but also features of a caretaker, preventing genomic instability. | NA | {
"id": 8289,
"name": "ARID1A",
"pos": [
17,
6
]
} | {
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
149,
19
]
} |
Proliferating cell nuclear antigen counts as markers of cell proliferation in head and neck cancer. | biomarker | {
"id": 5111,
"name": "PCNA",
"pos": [
0,
34
]
} | {
"id": "C0278996",
"name": "Malignant Head and Neck Neoplasm",
"pos": [
78,
20
]
} |
In STZ diabetes, pituitary SSTR1, SSTR2, and SSTR3 mRNA expression was reduced 50-80%, with levels of SSTR1 partially restored by insulin, whereas SSTR4 mRNA was unchanged. | NA | {
"id": 6753,
"name": "SSTR3",
"pos": [
45,
5
]
} | {
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
7,
8
]
} |
Patients with two TPMT variant alleles who are TPMT deficient have a substantial increase in their risk of myelotoxicity (86% of deficient patients developed myelosuppression). | NA | {
"id": 7172,
"name": "TPMT",
"pos": [
47,
4
]
} | {
"id": "C0854467",
"name": "Myelosuppression",
"pos": [
158,
16
]
} |
A sporadic patient from Germany was studied, who presented with an early onset CMS associated with feeding difficulties, ptosis, a moderate general weakness responsive to anticholinesterase treatment and recurrent episodes of respiratory insufficiency provoked by infections. | NA | {
"id": 23607,
"name": "CD2AP",
"pos": [
79,
3
]
} | {
"id": "C0005745",
"name": "Blepharoptosis",
"pos": [
121,
6
]
} |
This suggests that engagement of CR3 by opsonized Schu S4 contributes specifically to the immune suppression during and shortly following phagocytosis which we demonstrate by CD11b siRNA knockdown in hMDMs. | biomarker | {
"id": 3684,
"name": "ITGAM",
"pos": [
175,
5
]
} | {
"id": "C1840264",
"name": "IMMUNE SUPPRESSION",
"pos": [
90,
18
]
} |
In PLN p.Arg14del mutation associated cardiomyopathy, myocardial fibrosis is predominantly present in the left posterolateral wall and to a lesser extent in the right ventricular wall, whereas fatty changes are more pronounced in the right ventricular wall. | NA | {
"id": 5350,
"name": "PLN",
"pos": [
3,
3
]
} | {
"id": "C0151654",
"name": "Myocardial fibrosis",
"pos": [
54,
19
]
} |
A collection of 33 cases of BCC were screened for mutations of p53 and BAX genes, p53 and BCL2 expression, loss of heterozygosity (LOH) and apoptosis. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
63,
3
]
} | {
"id": "C4721806",
"name": "Carcinoma, Basal Cell",
"pos": [
28,
3
]
} |
Previous studies have identified several common genetic variants in VDR, GC and CYP2R1 to be associated with circulating levels of 25-hydroxyvitamin D [25(OH)D] and vitamin D deficiency in Western populations. | genomic_alterations | {
"id": 7421,
"name": "VDR",
"pos": [
68,
3
]
} | {
"id": "C0042870",
"name": "Vitamin D Deficiency",
"pos": [
165,
20
]
} |
MUC1 is associated with tumour aggressiveness in human breast cancer. | NA | {
"id": 4582,
"name": "MUC1",
"pos": [
0,
4
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
31,
14
]
} |
CD98 is a type II transmembrane glycoprotein whose expression increases in intestinal epithelial cells (IECs) during intestinal inflammation. | NA | {
"id": 10457,
"name": "GPNMB",
"pos": [
18,
26
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
128,
12
]
} |
AIM: To investigate human epidermal growth factor receptor 2 (HER2) amplification and protein expression in mixed gastric carcinoma. | NA | {
"id": 922,
"name": "CD5L",
"pos": [
0,
3
]
} | {
"id": "C0699791",
"name": "Stomach Carcinoma",
"pos": [
114,
17
]
} |
It is not surprising that additional chromosome abnormalities occur in patients with Ph-positive CML in BP, but it is of interest that t(9;11)(p22;q23), characteristic of acute myeloid leukemia French-American-British (FAB) type M5 (ANLL-M5) was observed. | NA | {
"id": 11261,
"name": "CHP1",
"pos": [
144,
3
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
38,
24
]
} |
Finally, gene expression data retrieved from The Cancer Genome Atlas (TCGA) consortium indicated that KEAP1 mutation significantly affects NRF2 signaling activity in patients with NSCLC. | genomic_alterations | {
"id": 9817,
"name": "KEAP1",
"pos": [
102,
5
]
} | {
"id": "C0007131",
"name": "Non-Small Cell Lung Carcinoma",
"pos": [
180,
5
]
} |
Molecular characterization of a variant Ph1 translocation t(9;22;11) (q34;q11;q13) in chronic myelogenous leukemia (CML) reveals the translocation of the 3'-part of BCR gene to the chromosome band 11q13. | NA | {
"id": 189,
"name": "AGXT",
"pos": [
40,
3
]
} | {
"id": "C0023473",
"name": "Myeloid Leukemia, Chronic",
"pos": [
86,
28
]
} |
OBJECTIVES: CD44 is a promising target for therapy in head and neck squamous cell carcinoma (HNSCC) and has two defined roles in tumorigenesis: it is a cancer stem cell (CSC) marker and it promotes migration and proliferation through interaction with many signaling molecules. | NA | {
"id": 960,
"name": "CD44",
"pos": [
12,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
129,
13
]
} |
Folate and B12 in prostate cancer. | NA | {
"id": 4709,
"name": "NDUFB3",
"pos": [
11,
3
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
18,
15
]
} |
There was no relationship of weight-for-age or BMI-for-age and EFS in univariate analyses (P = 0.28, log-rank test for both comparisons). | NA | {
"id": 10278,
"name": "EFS",
"pos": [
63,
3
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
29,
6
]
} |
Hsp90 inhibitor partially corrects nephrogenic diabetes insipidus in a conditional knock-in mouse model of aquaporin-2 mutation. | therapeutic | {
"id": 359,
"name": "AQP2",
"pos": [
105,
11
]
} | {
"id": "C1563706",
"name": "Nephrogenic Diabetes Insipidus, Type II",
"pos": [
35,
30
]
} |
We also found associations between multiple RARB, VDR, and RXRA SNPs/haplotypes and measles-specific IL-2, IL-6, IL-10, IFN-α, IFN-γ, IFNλ-1, and TNF-α cytokine secretions. | NA | {
"id": 6256,
"name": "RXRA",
"pos": [
59,
4
]
} | {
"id": "C0025007",
"name": "Measles",
"pos": [
84,
7
]
} |
Previous work has identified that following viral infection, type I IFN signaling induces the production of the 2'-5'-oligoadenylate synthetase (OAS) family, which include OAS1, OAS2, OAS3, and OAS-like (OASL) protein. | biomarker | {
"id": 4940,
"name": "OAS3",
"pos": [
184,
4
]
} | {
"id": "C0042769",
"name": "Virus Diseases",
"pos": [
44,
15
]
} |
Stevia-derived compounds attenuate the toxic effects of ectopic lipid accumulation in the liver of obese mice: a transcriptomic and metabolomic study. | therapeutic | {
"id": 3952,
"name": "LEP",
"pos": [
99,
2
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
64,
18
]
} |
At baseline, after 2 and 4 months and every 6 months thereafter, glomerular filtration rate (GFR), albuminuria, and 24-h blood pressure were determined. | NA | {
"id": 9771,
"name": "RAPGEF5",
"pos": [
93,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
121,
14
]
} |
Fragile X syndrome, the most prevalent inherited cause of mental retardation, is related to hyperexpansion of a polymorphic CGG repeat of the FMR1 gene. | NA | {
"id": 2332,
"name": "FMR1",
"pos": [
142,
9
]
} | {
"id": "C0020449",
"name": "Hyperdistention",
"pos": [
92,
14
]
} |
In vivo, the volume and weight of transplanted tumor and the number of liver metastases in the PRRX2 shRNA group were significantly reduced, with the similar protein expression patterns as in vitro. | genomic_alterations | {
"id": 51450,
"name": "PRRX2",
"pos": [
95,
5
]
} | {
"id": "C0494165",
"name": "Secondary malignant neoplasm of liver",
"pos": [
71,
16
]
} |
Evidence for the participation of cocaine- and amphetamine-regulated transcript peptide (CART) in the fluoxetine-induced anti-hyperalgesia in neuropathic rats. | therapeutic | {
"id": 9607,
"name": "CARTPT",
"pos": [
34,
45
]
} | {
"id": "C0751211",
"name": "Hyperalgesia, Primary",
"pos": [
126,
12
]
} |
SLC19A1 80G allele as a biomarker of methotrexate-related gastrointestinal toxicity in Portuguese rheumatoid arthritis patients. | NA | {
"id": 6573,
"name": "SLC19A1",
"pos": [
0,
7
]
} | {
"id": "C0003864",
"name": "Arthritis",
"pos": [
109,
9
]
} |
Xp22.3 deletion in males can be associated with short stature (SHOX), chondrodysplasia punctata (ARSE), mental retardation (MRX49 locus), ichthyosis (STS), Kallmann syndrome (KAL1) and ocular albinism (OA1), according to the size of the deletion. | NA | {
"id": 415,
"name": "ARSL",
"pos": [
97,
4
]
} | {
"id": "C3714756",
"name": "Intellectual Disability",
"pos": [
104,
18
]
} |
At baseline, blood glucose and plasma insulin were similar in the three groups while the group with a positive family history of hypertension had a significantly lower plasma renin activity (PRA) (0.85 +/- 0.09 compared with the weight-matched but not with the lean control group (1.36 +/- 0.13 and 1.06 +/- 0.15 ng AI.ml-1.h-1; p < 0.01 and NS, respectively). | NA | {
"id": 6277,
"name": "S100A6",
"pos": [
191,
3
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
229,
6
]
} |
Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. | NA | {
"id": 57492,
"name": "ARID1B",
"pos": [
111,
11
]
} | {
"id": "C0019209",
"name": "Hepatomegaly",
"pos": [
50,
12
]
} |
Arterio-venous gradients of plasma LPL activity and mass across adipose tissue and skeletal muscle were measured in 16 type 2 diabetic patients in a double-blind, placebo-controlled, cross-over randomised trial of rosiglitazone. | NA | {
"id": 3936,
"name": "LCP1",
"pos": [
35,
3
]
} | {
"id": "C0456909",
"name": "Blindness",
"pos": [
156,
5
]
} |
These findings (a) represent the first example of genetic modifiers of RCC risk in VHL disease, (b) replicate a previous report of an association between MMP1/MMP3 variants and sporadic RCC and (c) further implicate MMP1/MMP3-related pathways in the pathogenesis of familial and sporadic RCC. | NA | {
"id": 4314,
"name": "MMP3",
"pos": [
221,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
279,
8
]
} |
In comparison with unstimulated cell lines, incubation of the three lines with various amounts of IL-2 over 3 and 14 days did not increase their growth or change message expression of IL-2R, IL-10, and TGF-beta and surface expression of the adhesion molecules CD 11, CD 18, CD 29 and CD 54. | NA | {
"id": 3586,
"name": "IL10",
"pos": [
191,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
241,
8
]
} |
The minor allele variants of SNPs in the HLA-C and HCP5 gene regions are also in the ACS associated with a lower viral load at set point and additionally with delayed HIV-1 disease progression. | genomic_alterations | {
"id": 3107,
"name": "HLA-C",
"pos": [
41,
5
]
} | {
"id": "C0742343",
"name": "Acute Chest Syndrome",
"pos": [
85,
3
]
} |
The five groups and dietary phosphate content were: group 1--normal renal function (NRF) + 0.6% P + vehicle; group 2--NRF + 0.6% P + CTR; group 3--renal failure (RF) + 0.6% P + vehicle; group 4--RF + 1.2% P + CTR; and group 5--RF + 0.6% P + CTR. | NA | {
"id": 799,
"name": "CALCR",
"pos": [
241,
3
]
} | {
"id": "C0035078",
"name": "Kidney Failure",
"pos": [
147,
13
]
} |
This suggests a novel strategy targeting RhoA-JNK-c-Jun signaling to reduce osteosarcoma cell tumorigenesis. | biomarker | {
"id": 5599,
"name": "MAPK8",
"pos": [
46,
3
]
} | {
"id": "C1332986",
"name": "Childhood Osteosarcoma",
"pos": [
76,
12
]
} |
Altered patterns of transcription of the septin gene, SEPT9, in ovarian tumorigenesis. | NA | {
"id": 10801,
"name": "SEPTIN9",
"pos": [
54,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
72,
13
]
} |
In conclusion, we report the first mutation of the GnRH-R gene that can induce a total loss of function of this receptor and is associated with a phenotype of complete hypogonadotropic hypogonadism. | genomic_alterations | {
"id": 2798,
"name": "GNRHR",
"pos": [
51,
6
]
} | {
"id": "C0022735",
"name": "Klinefelter Syndrome",
"pos": [
168,
29
]
} |
Thus, although underpowered, our preliminary data suggest that SNP-216 polymorphism of the EGFR gene could be useful in predicting tumor response and the appearance of severe skin rash might also be associated. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
91,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
131,
5
]
} |
Protein kinase D (PKD) signaling plays a critical role in the regulation of DNA synthesis, proliferation, cell survival, adhesion, invasion/migration, motility, and angiogenesis. | NA | {
"id": 5587,
"name": "PRKD1",
"pos": [
0,
16
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
121,
8
]
} |
In order to determine the possible use of uveal melanoma cell lines as stimulators in immunotherapy, we evaluated the expression of the human genes for MAGE-1, -2 and -3, gp100 and tyrosinase in uveal melanoma cell lines. mRNA expression of the MAGE-1, -2 and -3, gp100 and tyrosinase genes and the HLA class I specificity were determined in five primary and three metastatic uveal melanoma cell lines. | genomic_alterations | {
"id": 7299,
"name": "TYR",
"pos": [
274,
10
]
} | {
"id": "C4725091",
"name": "metastatic intraocular melanoma",
"pos": [
365,
25
]
} |
Reinstitution of good control failed to protect inactivation of GAPDH, its covalent modification, and translocation to the nucleus. | NA | {
"id": 2597,
"name": "GAPDH",
"pos": [
64,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
102,
13
]
} |
No single variant of PPARG was significantly associated with height, weight or BMI. | NA | {
"id": 5468,
"name": "PPARG",
"pos": [
21,
5
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
69,
6
]
} |
miR-27a-3p Functions as a Tumor Suppressor and Regulates Non-Small Cell Lung Cancer Cell Proliferation via Targeting HOXB8. | biomarker | {
"id": 407018,
"name": "MIR27A",
"pos": [
0,
7
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
26,
5
]
} |
We performed regression analysis of association of 18 OPRM1 variants with a change of viral load and CD4 cell count during 2 periods: between admission to WIHS and the start of highly active antiretroviral therapy (HAART) (interval X) and between the start of HAART and the most recent WIHS visit (interval Y), and examined the association of these variants with HIV status. | NA | {
"id": 4988,
"name": "OPRM1",
"pos": [
54,
5
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
86,
10
]
} |
Therefore, IL-8 may promote prostate cancer bone metastasis by enhancing BSP regulation. | biomarker | {
"id": 3576,
"name": "CXCL8",
"pos": [
11,
4
]
} | {
"id": "C0153690",
"name": "Secondary malignant neoplasm of bone",
"pos": [
44,
15
]
} |
We report the case of a female infant with der(17)t(12;17)(q24.33;p13.3)pat caused by an unbalanced segregation of the parental balanced translocation of 17p with other chromosomes. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
67,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
138,
13
]
} |
Ten epidemiology studies on the association between CYP2D6 genotype and breast cancer recurrence report widely heterogeneous results with relative-risk estimates outside the range of reasonable bounds. | genomic_alterations | {
"id": 1565,
"name": "CYP2D6",
"pos": [
52,
6
]
} | {
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
72,
13
]
} |
An adaptive immune response triggered by obesity is characterized by the activation of adipose tissue CD4(+) T cells by unclear mechanisms. | NA | {
"id": 920,
"name": "CD4",
"pos": [
102,
3
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
41,
7
]
} |
p97 converts the energy derived from ATP hydrolysis into conformational changes of the p97 hexamer, which allows the dissociation of its targets from cellular structures or from larger protein complexes to facilitate their ubiquitin-dependent degradation. | NA | {
"id": 10428,
"name": "CFDP1",
"pos": [
87,
3
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
117,
12
]
} |
A statistically significant difference between the indeterminate, tuberculoid, and lepromatous clinical forms was detected, with high expression of GRP78/BiP, PERK, IRE1<i>α</i>, and ATF6 in tuberculoid forms (TT) when compared to lepromatous leprosy (LL) and indeterminate (I) leprosy. | biomarker | {
"id": 22926,
"name": "ATF6",
"pos": [
195,
4
]
} | {
"id": "C0021192",
"name": "Indeterminate leprosy",
"pos": [
287,
10
]
} |
A somatic mutation in the X-linked phosphatidylinositol glycan class A (PIGA) gene causes the loss of glycosyl phosphatidylinositol (GPI)-linked proteins on blood cells from patients with paroxysmal nocturnal hemoglobinuria. | genomic_alterations | {
"id": 5277,
"name": "PIGA",
"pos": [
72,
4
]
} | {
"id": "C0024790",
"name": "Paroxysmal nocturnal hemoglobinuria",
"pos": [
188,
35
]
} |
Atrial natriuretic peptide and long acting natriuretic peptide inhibit MEK 1/2 activation in human prostate cancer cells. | therapeutic | {
"id": 4878,
"name": "NPPA",
"pos": [
7,
21
]
} | {
"id": "C0001418",
"name": "Adenocarcinoma",
"pos": [
99,
15
]
} |
The aim of this study was to investigate the spectrum of mutations and gene variants in OPTN that might be present in people with glaucoma from a population-based study, the Blue Mountains Eye Study (BMES). | genomic_alterations | {
"id": 10133,
"name": "OPTN",
"pos": [
88,
4
]
} | {
"id": "C0017601",
"name": "Glaucoma",
"pos": [
130,
8
]
} |
Relationship between adipocytokines and angiotensin converting enzyme gene insertion/deletion polymorphism in lean women with and without polycystic ovary syndrome. | genomic_alterations | {
"id": 1636,
"name": "ACE",
"pos": [
40,
29
]
} | {
"id": "C0032460",
"name": "Polycystic Ovary Syndrome",
"pos": [
138,
25
]
} |
Although API-1 is neither an ATP competitor nor substrate mimetic, it binds to pleckstrin homology domain of Akt and blocks Akt membrane translocation. | NA | {
"id": 5345,
"name": "SERPINF2",
"pos": [
9,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
137,
13
]
} |
Analysis of covariance revealed that the interaction between the ND2-237 Leu/Met genotypes and habitual drinking was significantly associated with yearly changes in serum total cholesterol (TC) and low-density lipoprotein cholesterol (LDLC) levels (p=0.036 and p=0.006, respectively). | NA | {
"id": 4536,
"name": "ND2",
"pos": [
65,
3
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
104,
8
]
} |
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