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The objective of this study was to investigate the association between 61 SNPs in eight CHRN genes (CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7, CHRNB2, CHRNB3, CHRNB4) and dizziness at first inhalation. | NA | {
"id": 1142,
"name": "CHRNB3",
"pos": [
148,
6
]
} | {
"id": "C0004048",
"name": "Inspiration function",
"pos": [
187,
10
]
} |
Such stress-induced Mhrt repression is essential for cardiomyopathy to develop: restoring Mhrt to the pre-stress level protects the heart from hypertrophy and failure. | NA | {
"id": 104564225,
"name": "MHRT",
"pos": [
90,
4
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
143,
11
]
} |
Prognostic impacts of EGFR mutation status and subtype in patients with surgically resected lung adenocarcinoma. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
22,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
92,
19
]
} |
Co-heredity of silent CAP + 1570 T>C (HBB:c*96T>C) defect and severe β-thal mutation: a cause of mild β-thalassemia intermedia. | genomic_alterations | {
"id": 10580,
"name": "SORBS1",
"pos": [
22,
3
]
} | {
"id": "C0472767",
"name": "Beta thalassemia intermedia",
"pos": [
108,
24
]
} |
Expression of the REG IV gene in ulcerative colitis. | NA | {
"id": 8114,
"name": "IV",
"pos": [
22,
7
]
} | {
"id": "C0009324",
"name": "Ulcerative Colitis",
"pos": [
33,
18
]
} |
The enzymes 12R-LOX and eLOX3 are mutated in a rare form of congenital ichthyosis, and, in vitro, the two enzymes function together to convert arachidonic acid to a specific hepoxilin. | genomic_alterations | {
"id": 59344,
"name": "ALOXE3",
"pos": [
24,
5
]
} | {
"id": "C0079583",
"name": "Ichthyosiform Erythroderma, Congenital",
"pos": [
60,
21
]
} |
A female proband homozygous for both Hb Luton [α89(FG1)His→Leu (CAC>CTC), HBA2: c.269A>T (or HBA1)], a high oxygen affinity hemoglobin (Hb), and for α(+)-thalassemia (α-thal), (-α(4.2), leftward deletion) was first described in 2012. | NA | {
"id": 3040,
"name": "HBA2",
"pos": [
74,
4
]
} | {
"id": "C2239101",
"name": "Hemoglobin, CTCAE",
"pos": [
124,
10
]
} |
Recent research has shown that mutations in the SCN5A gene, encoding the cardiac sodium channel Nav1.5, are associated with both rare forms of ventricular arrhythmia, as well as the most frequent form of arrhythmia, atrial fibrillation (AF). | NA | {
"id": 6331,
"name": "SCN5A",
"pos": [
96,
6
]
} | {
"id": "C0085611",
"name": "Atrial arrhythmia",
"pos": [
204,
18
]
} |
We analyzed genetic factors, including 14 single nucleotide polymorphisms (SNPs), environmental risk factors (body mass index, age at menarche, pregnancy, age at first birth, breastfeeding, family history of breast cancer, age at menopause, use of hormone replacement therapy, alcohol intake, and smoking), serum hormones and growth factors (estradiol, testosterone, prolactin, insulin-like growth factor 1 [IGF1] and IGF binding protein 3 [IGFBP3]), and mammographic density in 913 women with breast cancer and 278 disease-free controls. | NA | {
"id": 3479,
"name": "IGF1",
"pos": [
408,
4
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
297,
7
]
} |
This study therefore aims to clarify the relationship between single nucleotide polymorphisms (SNPs) in BDNF and a genetic predisposition to AR and asthma in an ethnic Chinese population of Singapore. | genomic_alterations | {
"id": 627,
"name": "BDNF",
"pos": [
104,
4
]
} | {
"id": "C0004096",
"name": "Asthma",
"pos": [
148,
6
]
} |
Vesicular monoamine transporter 1 gene polymorphism and white matter integrity in major depressive disorder. | genomic_alterations | {
"id": 6571,
"name": "SLC18A2",
"pos": [
10,
21
]
} | {
"id": "C1269683",
"name": "Major Depressive Disorder",
"pos": [
82,
25
]
} |
Because the same reverse transcription-polymerase chain reaction expression pattern was observed in both normal and tumor-derived primary cell cultures, these results argue against a significant role for FHIT in epithelial ovarian tumorigenesis. | NA | {
"id": 2272,
"name": "FHIT",
"pos": [
204,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
231,
13
]
} |
Five of six patients with partial response to selumetinib had BRAF mutant tumors. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
62,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
74,
6
]
} |
In vitro, overexpression of a cleavable ErbB4 isoform in ER-positive breast cancer cells resulted in translocation of a proteolytically released intracellular ErbB4 receptor fragment into the nucleus, as well as, enhanced proliferation, anchorage-independent growth, and estrogen response element-mediated transcriptional activity. | NA | {
"id": 2066,
"name": "ERBB4",
"pos": [
159,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
101,
13
]
} |
Tumor cells had mild atypism and were immunoreactive for vimentin, alpha-smooth muscle actin, and anaplastic lymphoma kinase (ALK). | NA | {
"id": 238,
"name": "ALK",
"pos": [
126,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
16,
4
]
} |
Given the phenotypic overlap of individuals with CFZS, MBS, and NAM, we screened STAC3 in 12 individuals diagnosed with CFZS and in 50 individuals diagnosed with MBS or a congenital facial weakness disorder. | genomic_alterations | {
"id": 246329,
"name": "STAC3",
"pos": [
81,
5
]
} | {
"id": "C1850746",
"name": "Myopathy, congenital nonprogressive with Moebius and Robin sequences",
"pos": [
120,
4
]
} |
Its adverse prognostic effect is most likely mediated by hypoxia, the driving force for HIF-1alpha accumulation. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
88,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
57,
7
]
} |
Activating PIK3CA mutations are present in up to 35% of patients and are now the most actionable genomic alteration in HR<sup>+</sup>/HER2<sup>-</sup> advanced breast cancer with the recent approval of alpelisib and fulvestrant. | genomic_alterations | {
"id": 5290,
"name": "PIK3CA",
"pos": [
11,
6
]
} | {
"id": "C3495917",
"name": "Advanced breast cancer",
"pos": [
175,
22
]
} |
However, CD55 is abundantly present on fibroblast-like synoviocytes and is also a ligand of the adhesion-class heptahelical receptor CD97, which is expressed by infiltrating macrophages. | NA | {
"id": 976,
"name": "ADGRE5",
"pos": [
133,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
96,
8
]
} |
Aside from the expected strong association between SLE and the HLA region on chromosome 6p21 and the previously confirmed non-HLA locus IRF5 on chromosome 7q32, we found evidence of association with replication (1.1 x 10(-7) < P(overall) < 1.6 x 10(-23); odds ratio = 0.82-1.62) in four regions: 16p11.2 (ITGAM), 11p15.5 (KIAA1542), 3p14.3 (PXK) and 1q25.1 (rs10798269). | genomic_alterations | {
"id": 57661,
"name": "PHRF1",
"pos": [
328,
8
]
} | {
"id": "C0024141",
"name": "Lupus Erythematosus, Systemic",
"pos": [
51,
3
]
} |
They were divided into large artery atherosclerosis (LAA), cardioembolism (CE), small artery occlusion (SAA), stroke of other determined etiology (SOE) and stroke of undetermined etiology (SUE) according to TOAST (Trail of ORG 10172 in Acute Stroke Treatment) criteria; and they were divided into mild, moderate and severe types ischemic stroke according to their scores of neurologic impairment. | NA | {
"id": 6288,
"name": "SAA1",
"pos": [
104,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
297,
4
]
} |
The goal of this study was to evaluate the prevalence of PALB2 mutations in women with breast cancer without BRCA1/2 mutations who also had a personal or family history of pancreatic cancer. | genomic_alterations | {
"id": 79728,
"name": "PALB2",
"pos": [
57,
5
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
87,
13
]
} |
We found that the frequencies of the alleles ADH2*2 (57%), ADH3*1 (78%) and ALDH2*2 (9%) in the alcoholic cirrhotic patients were significantly lower than those in the healthy controls and in the patients with cirrhosis from viral hepatitis and with gastric and duodenal ulcer. | NA | {
"id": 125,
"name": "ADH1B",
"pos": [
45,
4
]
} | {
"id": "C1963279",
"name": "Viral Hepatitis, CTCAE 3",
"pos": [
225,
15
]
} |
Therefore, we investigated whether the K121Q polymorphism of the PC-1 gene association with insulin sensitivity, insulin levels, and the prevalence of diabetes and hypertension in adult life depends on size at birth in 489 subjects born in Helsinki during 1924-1933. | genomic_alterations | {
"id": 5310,
"name": "PKD1",
"pos": [
65,
4
]
} | {
"id": "C0011847",
"name": "Diabetes",
"pos": [
151,
8
]
} |
To further investigate the interaction between Dmrt1 and genetic background we compared mRNA expression in wild type and Dmrt1 mutant fetal testes of 129Sv and B6 mice at embryonic day 15.5 (E15.5), prior to overt tumorigenesis. | NA | {
"id": 1761,
"name": "DMRT1",
"pos": [
121,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
214,
13
]
} |
The data suggest that the HCRTR2 gene or a linked locus significantly modulates the risk for cluster headache. | genomic_alterations | {
"id": 3062,
"name": "HCRTR2",
"pos": [
26,
6
]
} | {
"id": "C0009088",
"name": "Cluster Headache",
"pos": [
93,
16
]
} |
The purpose of this study was to investigate the correlation between clinical scores on the Scales for the Assessment of Positive and Negative Symptoms (SAPS-SANS) and expression of 43 highly annotated genes within the UPS pathway in blood from patients with psychosis. | NA | {
"id": 124590,
"name": "USH1G",
"pos": [
158,
4
]
} | {
"id": "C0033975",
"name": "Psychotic Disorders",
"pos": [
259,
9
]
} |
Forty-two tumour samples were analysed for the presence of K-RAS codon 12 gene mutations using a RT-PCR mutant allele-specific amplification (MASA) technique. | NA | {
"id": 58478,
"name": "ENOPH1",
"pos": [
142,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
10,
6
]
} |
We then screened a total of 75 SBRCTs lacking EWSR1, FUS, SYT, CIC, and BCOR-CCNB3 abnormalities for BCOR break-apart probes by fluorescence in situ hybridization to detect potential recurrent BCOR gene rearrangements outside the typical X-chromosomal inversion. | NA | {
"id": 23152,
"name": "CIC",
"pos": [
63,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
83,
13
]
} |
The role of activating and inactivating calcium-sensing receptor (CaSR) mutations is discussed in detail with respect to familial hypocalciuric hypercalcemia (FHH) and autosomal dominant hypocalemia (ADH). | NA | {
"id": 551,
"name": "AVP",
"pos": [
200,
3
]
} | {
"id": "C0342637",
"name": "Hypocalciuric hypercalcemia, familial, type 1",
"pos": [
121,
36
]
} |
CLIP-PCR, by use of dried blood spots with a pooling strategy, efficiently offers a highly sensitive and high-throughput approach to detect asymptomatic submicroscopic infections with reduced cost and labor, making it an ideal tool for large-scale malaria surveillance in elimination settings. | NA | {
"id": 6249,
"name": "CLIP1",
"pos": [
0,
4
]
} | {
"id": "C0024530",
"name": "Malaria",
"pos": [
248,
7
]
} |
Pivotal role of the RanBP9-cofilin pathway in Aβ-induced apoptosis and neurodegeneration. | NA | {
"id": 10048,
"name": "RANBP9",
"pos": [
20,
6
]
} | {
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
71,
17
]
} |
These results afford SSX a functional role in normal stem cell migration and suggest a potentially similar function in cancer cell metastases. | biomarker | {
"id": 727837,
"name": "SSX2B",
"pos": [
21,
3
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
131,
10
]
} |
Parallel in vivo studies revealed ventricular ectopy on short-term isoproterenol challenge and increased (4-fold) propensity to arrhythmias, including nonsustained ventricular tachycardia, after myocardial infarction in Ala96 HRC mice. | NA | {
"id": 3270,
"name": "HRC",
"pos": [
226,
3
]
} | {
"id": "C0027051",
"name": "Myocardial Infarction",
"pos": [
195,
21
]
} |
Reconstitution of MnSOD expression in several human cancer cell lines leads to reversion of malignancy and induces a resistant phenotype to the cytotoxic effects of TNF and hyperthermia. | therapeutic | {
"id": 6648,
"name": "SOD2",
"pos": [
18,
5
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
52,
6
]
} |
The risk-conferring T allele in the PTPRD gene was associated with greater increase in homoeostasis model assessment of insulin resistance (HOMA-IR) (P = 0·04) over time. | NA | {
"id": 5789,
"name": "PTPRD",
"pos": [
36,
10
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
120,
18
]
} |
Our work highlights the need to better investigate the association between EGFR and KRAS mutations and alterations in tumor suppressor pathways. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
75,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
118,
5
]
} |
Therefore, GPC-3 might be a potential target for tumor imaging or therapy. | NA | {
"id": 2995,
"name": "GYPC",
"pos": [
11,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
49,
5
]
} |
The closest protein-coding genes were respectively GDF7 (rs3072), which encodes a ligand in the bone morphogenetic protein pathway, and TBX5 (rs2701108), which encodes a transcription factor that regulates esophageal and cardiac development. | NA | {
"id": 151449,
"name": "GDF7",
"pos": [
51,
4
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
206,
10
]
} |
CD4(+) T cells that express the T-cell receptor (TCR) Tcra-V11.1 and/or Tcrb-V8.2 play a key role in the pathogenesis of arthritis in the DBA/1 mouse (H2(q)). | NA | {
"id": 920,
"name": "CD4",
"pos": [
0,
3
]
} | {
"id": "C0003864",
"name": "Arthritis",
"pos": [
121,
9
]
} |
Measurement of serum cystatin C: A valuable tool for evaluating dyskinesia in Parkinson's disease. | biomarker | {
"id": 1471,
"name": "CST3",
"pos": [
21,
10
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
78,
19
]
} |
Further, OCL precursors from transgenic mice in which TAF12 expression was targeted to the OCL lineage (tartrate-resistant acid phosphatase [TRAP]-TAF12 mice), formed OCLs at very low levels of 1,25-(OH)₂D₃, although the OCLs failed to exhibit other hallmarks of PD OCLs, including receptor activator of NF-κB ligand (RANKL) hypersensitivity and hypermultinucleation. | NA | {
"id": 54,
"name": "ACP5",
"pos": [
141,
4
]
} | {
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
325,
16
]
} |
acute encephalitis of non-HSV origin (approximately 50% with other known aetiology, 50% of unknown origin) treated on the suspicion of HSE but in whom no signs of intrathecal HSV antibody synthesis were found, and samples from an additional 42 patients with other verified or suspected diseases of the CNS. | NA | {
"id": 8630,
"name": "HSD17B6",
"pos": [
135,
3
]
} | {
"id": "C0014038",
"name": "Encephalitis",
"pos": [
6,
12
]
} |
The KCNQ1 and HERG genes mutations are responsible for specific types of congenital long QT syndrome (LQT). | genomic_alterations | {
"id": 3784,
"name": "KCNQ1",
"pos": [
4,
5
]
} | {
"id": "C1141890",
"name": "Congenital long QT syndrome",
"pos": [
73,
27
]
} |
To evaluate the evolution of proviral load in asymptomatic individuals and HAM/TSP patients in order to help determine periodicity for measuring proviral load. | NA | {
"id": 7057,
"name": "THBS1",
"pos": [
79,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
46,
12
]
} |
Adrenocorticotropic hormone and vigabatrin treatment of children with infantile spasms underlying cerebral palsy. | therapeutic | {
"id": 5443,
"name": "POMC",
"pos": [
0,
27
]
} | {
"id": "C0154695",
"name": "Diplegic Infantile Cerebral Palsy",
"pos": [
98,
14
]
} |
In the present study we determined whether or not the calciotrophic hormones PTH 1-34 (PTH) and less- calcemic vitamin D analog QW as well as hyperglycemia can regulate DNA synthesis and CK. | genomic_alterations | {
"id": 5741,
"name": "PTH",
"pos": [
77,
5
]
} | {
"id": "C0020456",
"name": "Hyperglycemia",
"pos": [
142,
13
]
} |
These integrated efforts have identified FOXQ1 as a tumor promoter and might provide promising approaches for colorectal cancer metastasis treatment. | biomarker | {
"id": 94234,
"name": "FOXQ1",
"pos": [
41,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
52,
5
]
} |
Twenty cases of healthy subjects, 11 cases with asymptomatic HCV/genotype 4 carriers (ASC), 28 chronic hepatitis (CH) cases and 32 patients with HCC were enrolled in this study. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
145,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
48,
12
]
} |
Expression of long noncoding RNA MALAT1 correlates with increased levels of Nischarin and inhibits oncogenic cell functions in breast cancer. | therapeutic | {
"id": 378938,
"name": "MALAT1",
"pos": [
33,
6
]
} | {
"id": "C1257931",
"name": "Mammary Neoplasms, Human",
"pos": [
127,
13
]
} |
To determine (1) clinical features that distinguish maculopathy due to the R345W substitution in fibulin-3 from other forms of inherited or early-onset drusen, (2) the phenotypic variability, and (3) the extent of retinal disease in those with a positive molecular diagnosis. | genomic_alterations | {
"id": 2202,
"name": "EFEMP1",
"pos": [
97,
9
]
} | {
"id": "C0035309",
"name": "Retinal Diseases",
"pos": [
214,
15
]
} |
Protein kinase D1 (PKD1) is a serine-threonine kinase that regulates various functions within the cell, including cell proliferation, apoptosis, adhesion, and cell motility. | NA | {
"id": 5310,
"name": "PKD1",
"pos": [
19,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
145,
8
]
} |
In a mouse model, cardiomyopathy caused by the dominant CryAB(R120G) missense mutation was suppressed by mutation of the gene that encodes glucose 6-phosphate dehydrogenase (G6PD), one of the cell's primary sources of reducing equivalents in the form of NADPH. | NA | {
"id": 1056,
"name": "CEL",
"pos": [
192,
6
]
} | {
"id": "C0878544",
"name": "Cardiomyopathies",
"pos": [
18,
14
]
} |
The data highlight the role of SLCO1B1 c.521C>T SNP as a replicable genetic risk factor for statin myopathy. | genomic_alterations | {
"id": 10599,
"name": "SLCO1B1",
"pos": [
31,
7
]
} | {
"id": "C0026848",
"name": "Myopathy",
"pos": [
102,
8
]
} |
While the encephalopathy has been traditionally attributed to the MECP2 gene duplication in patients with Lubs syndrome, here we propose that the enteric phenotype in our patient might be due to the dosage variation of the L1CAM protein, together with additional molecular events not identified yet. | NA | {
"id": 3897,
"name": "L1CAM",
"pos": [
223,
5
]
} | {
"id": "C0085584",
"name": "Encephalopathies",
"pos": [
10,
14
]
} |
Splicing mutations of Int 8 (+5) G>A in cousins and insertion of 1023 C in unrelated families presented as both XLT and classic WAS phenotype in the same mutations. | genomic_alterations | {
"id": 55656,
"name": "INTS8",
"pos": [
22,
5
]
} | {
"id": "C0043194",
"name": "Wiskott-Aldrich Syndrome",
"pos": [
131,
3
]
} |
A total of 5 x 10(9) plaque-forming units (pfu) of an E1/E3-deleted adenovirus expressing either human LPL (Ad-LPL) or the bacterial beta-galactosidase gene (Ad-LacZ) as a control were administered to mice heterozygous for targeted disruption in the LPL gene (n = 57). | NA | {
"id": 4023,
"name": "LPL",
"pos": [
250,
8
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
68,
10
]
} |
A multivariate graphical display on a subset of the most informative cases revealed that bcl-2 expression parallels ER/PGR status and is of importance in separating tumour clusters with different degrees of aggressiveness. | NA | {
"id": 596,
"name": "BCL2",
"pos": [
89,
5
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
207,
14
]
} |
Fibronectin, type IV collagen, and matrix rigidity are significant regulators of lapatinib resistance in HER2-amplified breast cancer cells. | biomarker | {
"id": 2064,
"name": "ERBB2",
"pos": [
105,
4
]
} | {
"id": "C0026837",
"name": "Muscle Rigidity",
"pos": [
42,
8
]
} |
We previously developed a mouse model of lethal C3 glomerulopathy with factor H and properdin gene double mutations. | genomic_alterations | {
"id": 5199,
"name": "CFP",
"pos": [
84,
9
]
} | {
"id": "C4087273",
"name": "C3 glomerulopathy",
"pos": [
48,
17
]
} |
We identified the MNNG HOS transforming gene (MET)-anaplastic lymphoma receptor tyrosine kinase (ALK) inhibitor crizotinib as the top hit of our drug screen, whereas compounds targeting the vascular endothelial growth factor (VEGF) or mammalian target of rapamycin (mTOR) pathway showed no or only minor in vitro activity. | NA | {
"id": 238,
"name": "ALK",
"pos": [
97,
3
]
} | {
"id": "C0272285",
"name": "Heparin-induced thrombocytopenia",
"pos": [
134,
3
]
} |
The persistence of these deposits within the atrophic lesion may account for the distinct grayish FAF appearance, which differs from the markedly reduced signal in other forms of GA. (ClinicalTrials.gov number, NCT00393692. | NA | {
"id": 2188,
"name": "FANCF",
"pos": [
98,
3
]
} | {
"id": "C0333641",
"name": "Atrophic",
"pos": [
45,
8
]
} |
It is concluded that although pS2, SP and ITF belong to the same family of inflammation- and cancer-associated regulatory peptides, they do not control identical signaling networks. | NA | {
"id": 5664,
"name": "PSEN2",
"pos": [
30,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
75,
12
]
} |
Tumors from a prospective cohort of adult patients with newly diagnosed glioblastoma (n=73), treated uniformly with radiochemotherapy, were examined for 10q23/PTEN deletion by fluorescence in situ hybridization (FISH). | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
212,
4
]
} | {
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
72,
12
]
} |
However, the role of AXIN1 in the tumorigenesis and progression of hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC) is less clear. | NA | {
"id": 8312,
"name": "AXIN1",
"pos": [
21,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
34,
13
]
} |
Brain tumours with higher MIB-1 indices showed a tendency to higher apoptotic indices. | biomarker | {
"id": 57534,
"name": "MIB1",
"pos": [
26,
5
]
} | {
"id": "C0006118",
"name": "Brain Neoplasms",
"pos": [
0,
13
]
} |
In order to evaluate the role of RET proto-oncogene in the development and growth of pheochromocytomas, we examined mutations in RET and expression of RET in 7 cases of sporadic pheochromocytomas. | NA | {
"id": 5979,
"name": "RET",
"pos": [
151,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
169,
8
]
} |
We found that gain-of-function of CBP rescues Aβ42 mediated neurodegeneration by blocking cell death. | NA | {
"id": 1387,
"name": "CREBBP",
"pos": [
34,
3
]
} | {
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
60,
17
]
} |
Specific inhibition of the β1 integrin or proliferation-associated signaling molecules revealed a critical function of JNK, PI3K, and p38 MAPK in glioblastoma cell invasion. | biomarker | {
"id": 1398,
"name": "CRK",
"pos": [
134,
3
]
} | {
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
146,
12
]
} |
This study also demonstrated that IkappaBalpha -881G was associated with the occurrence of vasculitis in SLE patients. | NA | {
"id": 4792,
"name": "NFKBIA",
"pos": [
34,
12
]
} | {
"id": "C0042384",
"name": "Vasculitis",
"pos": [
91,
10
]
} |
Impact of interferon-alpha in combined chemoradioimmunotherapy for pancreatic adenocarcinoma (CapRI): first data from the immunomonitoring. | therapeutic | {
"id": 3439,
"name": "IFNA1",
"pos": [
10,
19
]
} | {
"id": "C0205642",
"name": "Adenocarcinoma, Oxyphilic",
"pos": [
67,
25
]
} |
Gcm1(+/-) placentas had syncytiotrophoblast abnormalities including reduced gene expression of Gcm1-regulated SynB, elevated expression of sFlt1, a thickened interhemal membrane separating maternal and fetal circulations, and electron microscopic evidence in syncytiotrophoblast of necrosis and impaired maternal-fetal transfer. | NA | {
"id": 8521,
"name": "GCM1",
"pos": [
95,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
44,
13
]
} |
The Tsukuba hypertensive mouse (transgenic mouse carrying human genes for both renin and angiotensinogen) as a model of human malignant hypertension: development of lesions and morphometric analysis. | biomarker | {
"id": 5972,
"name": "REN",
"pos": [
79,
5
]
} | {
"id": "C0020540",
"name": "Malignant Hypertension",
"pos": [
126,
22
]
} |
We propose that in TIPS, Tax recruits HDAC1 to the SHP-1 P2 promoter and forms an inhibitory complex that results in deacetylation and dissociation of NF-kappaB from the promoter and attenuation of SHP-1 expression. | NA | {
"id": 3065,
"name": "HDAC1",
"pos": [
38,
5
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
135,
12
]
} |
Four weeks after MI, rats were randomly divided into a control group (n=11), HGF group (Adenovirus vector carrying human HGF (Ad-HGF)-transfected MSC transplanted into the infarct zone; n=11), G-CSF group (intraperitoneal injection with G-CSF; n=11), and HGF + G-CSF group (Ad-HGF-transfected MSC transplanted into the infarct zone and intraperitoneal injection with G-CSF; n=11). | NA | {
"id": 3082,
"name": "HGF",
"pos": [
277,
3
]
} | {
"id": "C0021308",
"name": "Infarction",
"pos": [
319,
7
]
} |
GNAS1 T393C polymorphism is associated with clinical course in patients with intrahepatic cholangiocarcinoma. | genomic_alterations | {
"id": 2778,
"name": "GNAS",
"pos": [
0,
5
]
} | {
"id": "C4284013",
"name": "Primary cholangiocarcinoma of intrahepatic biliary tract",
"pos": [
77,
31
]
} |
A fraction of acute lymphoblastic leukemia (ALL) cases carry the translocation t(9;22) (q34;q11.2) which juxtaposes the ABL proto-oncogene to the BCR gene generating a chimeric gene, BCR/ABL. | NA | {
"id": 613,
"name": "BCR",
"pos": [
146,
8
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
65,
13
]
} |
Following focal stroke and reperfusion, SOD2-/+ mice had delayed blood-brain barrier breakdown, associated with activation of matrix metalloproteinase and high brain hemorrhage rates, whereas a decrease in apoptosis and hemorrhage was observed in SOD2 overexpressors. | NA | {
"id": 6648,
"name": "SOD2",
"pos": [
247,
4
]
} | {
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
220,
10
]
} |
Multifactorial genesis of pancreatitis in primary hyperparathyroidism: evidence for "protective" (PRSS2) and "destructive" (CTRC) genetic factors. | NA | {
"id": 11330,
"name": "CTRC",
"pos": [
124,
4
]
} | {
"id": "C0221002",
"name": "Hyperparathyroidism, Primary",
"pos": [
42,
27
]
} |
The reported association between D12S1034 and lung adenocarcinoma (ADCA) risk [Yanagitani N, Kohno T, Sunaga N, et al. | NA | {
"id": 5173,
"name": "PDYN",
"pos": [
67,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
46,
19
]
} |
A genetic variation in microRNA target site of KRT81 gene is associated with survival in early-stage non-small-cell lung cancer. | NA | {
"id": 3887,
"name": "KRT81",
"pos": [
47,
10
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
116,
11
]
} |
These observations suggest that PI3K can regulate cell cycle progression and cell proliferation in human gastric tumor cells via Rb-mediated pathway, and that this effect of PI3K is mediated through a direct association with Rb via the N-terminal end of its p55 kDa regulatory subunits and modulating Rb-E2F interactions. | NA | {
"id": 2078,
"name": "ERG",
"pos": [
258,
3
]
} | {
"id": "C0038356",
"name": "Stomach Neoplasms",
"pos": [
105,
13
]
} |
The expression of HIF-1α and P-gp was significantly enhanced in LoVo MCS after treatment with hypoxia. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
18,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
94,
7
]
} |
The epidermal growth factor receptor (EGFR) plays an important role in tumorigenesis and tumor progression of colorectal cancer (CRC). | NA | {
"id": 1956,
"name": "EGFR",
"pos": [
38,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
71,
13
]
} |
We carried out a longitudinal analysis of CSF cholesterol, lathosterol and 24(S)-hydroxycholesterol before and after treatment with maximum doses of statins in 10 asymptomatic subjects, 8 of whom were heterozygous for apolipoprotein E epsilon4, and in 6 presymptomatic PS1 subjects. | NA | {
"id": 5663,
"name": "PSEN1",
"pos": [
269,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
163,
12
]
} |
CRYAB belongs to the low molecular heat shock proteins and GFAP is known as a marker of astrocytic activation in gliosis. | NA | {
"id": 1410,
"name": "CRYAB",
"pos": [
0,
5
]
} | {
"id": "C0017639",
"name": "Gliosis",
"pos": [
113,
7
]
} |
Other amplified regions containing well-known oncogenes in GBMs were also detected at 7p12 (EGFR), 7q21 (CDK6), 4q12 (PDGFRA), and 12q13-15 (MDM2 and CDK4). | biomarker | {
"id": 1021,
"name": "CDK6",
"pos": [
105,
4
]
} | {
"id": "C1621958",
"name": "Glioblastoma Multiforme",
"pos": [
59,
3
]
} |
Meanwhile, the mRNA and protein expression levels of NTSR1 were increased by the Wnt pathway activator Wnt3a and decreased by the Wnt inhibitor iCRT3 in glioblastoma cells. | biomarker | {
"id": 89780,
"name": "WNT3A",
"pos": [
103,
5
]
} | {
"id": "C0280474",
"name": "Childhood Glioblastoma",
"pos": [
153,
12
]
} |
BCOR-CCNB3-positive soft tissue sarcoma with round-cell and spindle-cell histology: a series of four cases highlighting the pitfall of mimicking poorly differentiated synovial sarcoma. | biomarker | {
"id": 85417,
"name": "CCNB3",
"pos": [
5,
5
]
} | {
"id": "C0279982",
"name": "Childhood Synovial Sarcoma",
"pos": [
167,
16
]
} |
In the past 10 years much has been published about MuRF1 and MAFbx with respect to their mRNA expression patterns under atrophy-inducing conditions, their transcriptional regulation, and their putative substrates. | NA | {
"id": 114907,
"name": "FBXO32",
"pos": [
62,
5
]
} | {
"id": "C0333641",
"name": "Atrophic",
"pos": [
121,
7
]
} |
Development of inhibitors to factor VIII, a serious complication of replacement therapy in haemophilia A patients, leads to increased bleeding, morbidity and mortality. | NA | {
"id": 1351,
"name": "COX8A",
"pos": [
36,
4
]
} | {
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
134,
8
]
} |
The occurrence of SOX2-specific autoantibodies seems to be associated with an improved prognosis in patients with monoclonal gammopathy of undetermined significance (MGUS). | NA | {
"id": 6657,
"name": "SOX2",
"pos": [
18,
4
]
} | {
"id": "C0026470",
"name": "Monoclonal Gammopathy of Undetermined Significance",
"pos": [
114,
50
]
} |
Here, we show that the RET/PTC1 oncogene, when exogenously expressed in primary normal human thyrocytes, induces the expression of a large set of genes involved in inflammation and tumor invasion, including those encoding chemokines (CCL2, CCL20, CXCL8, and CXCL12), chemokine receptors (CXCR4), cytokines (IL1B, CSF-1, GM-CSF, and G-CSF), matrix-degrading enzymes (metalloproteases and urokinase-type plasminogen activator and its receptor), and adhesion molecules (L-selectin). | NA | {
"id": 6402,
"name": "SELL",
"pos": [
467,
10
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
447,
8
]
} |
However, the mechanisms underlying the chemokine (C-C motif) ligand 20 (CCL20)/chemokine (C-C motif) receptor 6 (CCR6)-AEG-1 pathway-mediated EMT in cervical cancer (CC) have not been well featured till now. | NA | {
"id": 6364,
"name": "CCL20",
"pos": [
72,
5
]
} | {
"id": "C4048328",
"name": "cervical cancer",
"pos": [
149,
15
]
} |
Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
77,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
56,
13
]
} |
Synergistic interactions between interferon-gamma and TRAIL modulate c-FLIP in endothelial cells, mediating their lineage-specific sensitivity to thrombotic thrombocytopenic purpura plasma-associated apoptosis. | NA | {
"id": 8743,
"name": "TNFSF10",
"pos": [
54,
5
]
} | {
"id": "C0857305",
"name": "Thrombocytopenic purpura",
"pos": [
157,
24
]
} |
Finally, this PC-associated substitution as well as more frequent caries-associated SNPs, found in two of the KRT6 genes, that result in rs28538343s28538343" genes_norm="140807;286887;3853;3854;3868;3872">rs28538343</span>" genes_norm="286887;3854;3868">p.Ser143Asn</span> substitution (rs28538343 in KRT6B and rs151117600 in KRT6C), alter the assembly of K6 filaments in ameloblast-like cells. | genomic_alterations | {
"id": 286887,
"name": "KRT6C",
"pos": [
326,
5
]
} | {
"id": "C0265334",
"name": "Pachyonychia Congenita",
"pos": [
14,
2
]
} |
We report the analysis of the TCR delta gene configuration in 21 T-cell acute and chronic leukemias, 40 B-cell leukemias, 4 acute myeloid leukemias of difficult classification, and 12 normal controls. | genomic_alterations | {
"id": 5694,
"name": "PSMB6",
"pos": [
34,
5
]
} | {
"id": "C1279296",
"name": "Chronic leukemia (category)",
"pos": [
82,
17
]
} |
However, in rat gastric ulcers, IGF-1, total Akt, FoxO3a and FoxO4 were localized in proximity to the base of the ulcer margin and were also present in the granulation tissues of the gastric ulcers. | NA | {
"id": 2309,
"name": "FOXO3",
"pos": [
50,
6
]
} | {
"id": "C0041582",
"name": "Ulcer",
"pos": [
114,
5
]
} |
We observed only borderline results for the association of AXIN2 and CDH1 with CL/P with and without tooth agenesis. | NA | {
"id": 999,
"name": "CDH1",
"pos": [
69,
4
]
} | {
"id": "C4083050",
"name": "Tooth agenesis",
"pos": [
101,
14
]
} |