text
stringlengths 27
1.82k
| relation
stringclasses 4
values | h
dict | t
dict |
|---|---|---|---|
CONCLUSIONS: Patients with HCC or cholangiocarcinoma do not have an increased incidence of monoallelic MYH mutations pre-disposing them to disease. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
27,
3
]
} | {
"id": "C0206698",
"name": "Cholangiocarcinoma",
"pos": [
34,
18
]
} |
Single nucleotide polymorphisms (SNPs, n = 114) in nine RAAS-related genes (AGT, REN, ACE, ACE2, AGTR1, CYP11B2, NR3C2, MAS1, and CMA1) were assessed for their correlation with blood pressure and hypertension using genotype data of 8842 individuals from the Korea Association Resource subject pool. | NA | {
"id": 185,
"name": "AGTR1",
"pos": [
97,
5
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
177,
14
]
} |
Neither of the two LOXL1 SNPs was significantly associated with POAG. | genomic_alterations | {
"id": 4016,
"name": "LOXL1",
"pos": [
19,
5
]
} | {
"id": "C0339573",
"name": "Glaucoma, Primary Open Angle",
"pos": [
64,
4
]
} |
The deduced amino acid sequence for the teratocarcinoma autotaxin has 94% identity to the melanoma-derived protein, 90% identity to rat brain phosphodiesterase I/nucleotide pyrophosphatase (PD-I alpha), and 44% identity to the plasma cell membrane marker PC-I. | biomarker | {
"id": 3868,
"name": "KRT16",
"pos": [
255,
4
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
90,
8
]
} |
In this study, we evaluated the staining characteristics of PVNS/TGCT and reactive synovitides for CSF1 and CSF1R by in situ hybridization and immunohistochemistry on tissue microarrays and correlated these findings with the recently described translocation. | NA | {
"id": 1436,
"name": "CSF1R",
"pos": [
108,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
244,
13
]
} |
PPL Therapeutics is developing transgenic alpha-1-antitrypsin for the treatment of cystic fibrosis lung disease and other conditions in which connective tissue is broken down irreversibly. | NA | {
"id": 5493,
"name": "PPL",
"pos": [
0,
3
]
} | {
"id": "C0024115",
"name": "Lung diseases",
"pos": [
99,
12
]
} |
The relationships between hypoxia-dependent markers: HIF-1alpha, EPO and EPOR in colorectal cancer. | NA | {
"id": 2056,
"name": "EPO",
"pos": [
65,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
26,
7
]
} |
This prospective study aimed to investigate the associations between MTHFR 677C>T, MTHFR 1298A>C, MTR 2756A>G, MTRR 66A>G, and CBS 844ins68 polymorphisms and spontaneous abortion (SA) with fetal chromosomal aneuploidy. | NA | {
"id": 4548,
"name": "MTR",
"pos": [
98,
3
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
207,
10
]
} |
To highlight possible similarities and differences in receptor tyrosine kinase (RTK) and downstream signalling activation profiles between clear-cell sarcomas (CCS) and metastatic melanomas (MM), frozen, and paired-matched fixed samples of six CCS with EWSR1 rearrangement (EWSR1+), five CCS without EWSR1 rearrangement (EWSR1-), and seven MM were investigated by means of biochemical, immunohistochemical, FISH, molecular analyses, and immunofluorescence confocal microscopy. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
407,
4
]
} | {
"id": "C1261473",
"name": "Sarcoma",
"pos": [
150,
8
]
} |
Expression of MUC2, MUC5AC and MUC6 was strongly associated with features associated with tumorigenesis via the serrated neoplasia pathway, including methylator positivity, somatic BRAF p.V600E mutation, and mismatch repair deficiency, as well as proximal location, poor differentiation, lymphocytic response, and increased T stage (all P<0.001). | NA | {
"id": 4583,
"name": "MUC2",
"pos": [
14,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
90,
13
]
} |
No germline or somatic mutations in the ATP4A gene were found in sporadic gastric NET patients. | NA | {
"id": 495,
"name": "ATP4A",
"pos": [
40,
10
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
65,
8
]
} |
Our data suggest that HOXB2 and HOXB3 act as tumor suppressors in FLT3-ITD driven AML. | biomarker | {
"id": 3212,
"name": "HOXB2",
"pos": [
22,
5
]
} | {
"id": "C0023467",
"name": "Leukemia, Myelocytic, Acute",
"pos": [
82,
3
]
} |
Blockade of IL-10R by Ab or genetic deficiency of IL-10 resulted in 3-5-fold higher concentrations of IL-27(p28) in endotoxic shock and polymicrobial sepsis. | NA | {
"id": 3586,
"name": "IL10",
"pos": [
50,
5
]
} | {
"id": "C0036981",
"name": "Endotoxic shock",
"pos": [
116,
15
]
} |
DNA sequencing analysis disclosed a missense mutation from CTG (Leu) to CGG (Arg) at codon 352 located within the sixth transmembrane domain of octn2. | genomic_alterations | {
"id": 6584,
"name": "SLC22A5",
"pos": [
144,
5
]
} | {
"id": "C1864172",
"name": "Peroxisome Biogenesis Disorder, Complementation Group G",
"pos": [
77,
3
]
} |
The symptoms developed 17 months after treatment for acute myeloblastic leukemia (AML, M2 subtype according to the French-American-British [FAB] classification) involving a chromosome abnormality at t(8;21)(q22;q22). | NA | {
"id": 2187,
"name": "FANCB",
"pos": [
140,
3
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
173,
22
]
} |
To address this issue, we used ACHN cells derived from malignant pleural effusion of a patient with metastatic RCC. | NA | {
"id": 55323,
"name": "LARP6",
"pos": [
31,
4
]
} | {
"id": "C0080032",
"name": "Pleural Effusion, Malignant",
"pos": [
55,
26
]
} |
Transfection of miR-7 into glioma cell lines causes inhibition of cell migration and invasion and suppression of tumorigenesis. | biomarker | {
"id": 10859,
"name": "LILRB1",
"pos": [
16,
5
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
85,
8
]
} |
Corticotropin-releasing hormone receptors mediate apoptosis via cytosolic calcium-dependent phospholipase A₂ and migration in prostate cancer cell RM-1. | biomarker | {
"id": 1392,
"name": "CRH",
"pos": [
0,
31
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
126,
15
]
} |
Galectin-3 and VCAM-1 could serve as a promising dual biomarker for prognostic assessment, considering their joint effects on pathogenesis of leukocyte trafficking and atherothrombosis. | biomarker | {
"id": 3958,
"name": "LGALS3",
"pos": [
0,
10
]
} | {
"id": "C1963943",
"name": "Atherothrombosis",
"pos": [
168,
16
]
} |
Sixteen patients with ulcerative colitis (UC), 14 with Crohn's disease (CD) and three with indeterminate colitis (IC) were enrolled in the study (median age 13 years, range 0.6-16 years, n = 19 boys). | NA | {
"id": 2537,
"name": "IFI6",
"pos": [
175,
4
]
} | {
"id": "C0009324",
"name": "Ulcerative Colitis",
"pos": [
22,
18
]
} |
Most BWS cases are sporadic and result from imprinting errors (epimutations) involving either of the two 11p15.5 imprinting control regions (IC1 and IC2). | NA | {
"id": 1781,
"name": "DYNC1I2",
"pos": [
149,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
19,
8
]
} |
MiR-21 expression was evaluated in formalin-fixed paraffin-embedded samples from patients with esophageal squamous-cell carcinoma (SCC) by quantitative RT-PCR. | NA | {
"id": 406991,
"name": "MIR21",
"pos": [
0,
6
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
95,
10
]
} |
We report the case of a female HA patient with a moderate decrease of factor (F) VIII activity and antigen (FVIII:C 3.4%, FVIII:Ag 4.2%) and severe bleeding symptoms. | NA | {
"id": 2157,
"name": "F8",
"pos": [
122,
5
]
} | {
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
148,
8
]
} |
An examination of the genomic region upstream of miR-122 uncovered hyper-methylation in hESCs and HCCs, while the same region is de-methylated and occupied by a transcription initiating protein, RNA polymerase II (RNAPII), in hPHs. | biomarker | {
"id": 406906,
"name": "MIR122",
"pos": [
49,
7
]
} | {
"id": "C0424295",
"name": "Hyperactive behavior",
"pos": [
67,
5
]
} |
We examined the expression of DLEC1 by semi-quantitative reverse transcription (RT)-PCR, and evaluated the promoter methylation of DLEC1 by methylation-specific PCR (MSP) and bisulfite genomic sequencing (BGS) in common lymphoma cell lines and tumors. | NA | {
"id": 89782,
"name": "LMLN",
"pos": [
166,
3
]
} | {
"id": "C0024299",
"name": "Lymphoma",
"pos": [
220,
8
]
} |
This alteration was associated with the evidence of mental retardation in the FHH carriers and appears to be a novel inactivating mutation in the CASR gene. | genomic_alterations | {
"id": 846,
"name": "CASR",
"pos": [
146,
4
]
} | {
"id": "C0025362",
"name": "Mental Retardation",
"pos": [
52,
18
]
} |
DGCR8 rs3757 and AGO1 rs636832 were found to have significant association with depression, and GEMIN4 rs7813 did not affect susceptibility to depression. | genomic_alterations | {
"id": 50628,
"name": "GEMIN4",
"pos": [
95,
6
]
} | {
"id": "C0011570",
"name": "Mental Depression",
"pos": [
142,
10
]
} |
Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such as intellectual disability and developmental delay, glaucoma, cataract and band keratopathy. | genomic_alterations | {
"id": 8671,
"name": "SLC4A4",
"pos": [
38,
6
]
} | {
"id": "C0424605",
"name": "Developmental delay (disorder)",
"pos": [
180,
19
]
} |
Mutations in BRCA1 and BRCA2 account for hereditary breast and ovarian cancer syndrome in a majority of families and 14% of epithelial ovarian cancer cases. | genomic_alterations | {
"id": 672,
"name": "BRCA1",
"pos": [
13,
5
]
} | {
"id": "C0677886",
"name": "Epithelial ovarian cancer",
"pos": [
124,
25
]
} |
Carriage of NOD2 mutations predispose to small-intestinal, stricturing CD, a phenotype also associated with smoking. | NA | {
"id": 64127,
"name": "NOD2",
"pos": [
13,
4
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
109,
7
]
} |
ZEB1-mediated vasculogenic mimicry formation associates with epithelial-mesenchymal transition and cancer stem cell phenotypes in prostate cancer. | biomarker | {
"id": 6935,
"name": "ZEB1",
"pos": [
0,
4
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
99,
6
]
} |
Increased hepatic receptor interacting protein kinase 3 expression due to impaired proteasomal functions contributes to alcohol-induced steatosis and liver injury. | therapeutic | {
"id": 11035,
"name": "RIPK3",
"pos": [
18,
30
]
} | {
"id": "C4277682",
"name": "Chemical and Drug Induced Liver Injury",
"pos": [
150,
12
]
} |
Altering the level of 15-LO1 yields inverse changes in HIF-1α and HIF-1 transcriptional activity, under both normoxia and hypoxia, and even in CoCl2 -treated cells where HIF-1α has been artificially elevated. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
170,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
122,
7
]
} |
The APOB and APOA1/C3/A4 loci appear to contribute to the development of NIDDM in individuals who are of lean/normal weight and overweight, respectively. | NA | {
"id": 338,
"name": "APOB",
"pos": [
4,
4
]
} | {
"id": "C0497406",
"name": "Overweight",
"pos": [
128,
10
]
} |
To study the significance of CHEK2 I157T for EC, we have genotyped 268 patients and 449 female controls. | genomic_alterations | {
"id": 11200,
"name": "CHEK2",
"pos": [
29,
5
]
} | {
"id": "C0007103",
"name": "Malignant neoplasm of endometrium",
"pos": [
45,
2
]
} |
Therefore, OPN levels were investigated in bronchoalveolar lavage (BAL) cells in 11 patients with pulmonary Langerhans cell histiocytosis (PLCH), 15 patients with desquamative interstitial pneumonitis (DIP), 10 patients with idiopathic pulmonary fibrosis, 5 patients with sarcoidosis, 13 otherwise healthy smokers, and 19 non-smoking controls. | NA | {
"id": 6696,
"name": "SPP1",
"pos": [
11,
3
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
326,
7
]
} |
HHG is thought to affect all NR0B1 mutated patients who reach puberty and, as understanding of the disease has improved, more of these patients survive while presenting different features of the disease, this emphasizing the value of genetic testing in boys with primary adrenal insufficiency and suspected X-linked CAH. | genomic_alterations | {
"id": 190,
"name": "NR0B1",
"pos": [
29,
5
]
} | {
"id": "C0520463",
"name": "Chronic active hepatitis",
"pos": [
316,
3
]
} |
Stimulation of 5-HT 1A receptors increases the seizure threshold for picrotoxin in mice. | therapeutic | {
"id": 3350,
"name": "HTR1A",
"pos": [
15,
6
]
} | {
"id": "C0751496",
"name": "Seizures, Sensory",
"pos": [
47,
7
]
} |
These data indicate that the analysis of CARD14 mutations could help stratify pustular psoriasis cohorts but would be mostly uninformative in the context of psoriasis and sporadic PRP. | NA | {
"id": 79092,
"name": "CARD14",
"pos": [
41,
6
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
171,
8
]
} |
Variants in the transcription factor 7-like2 (TCF7L2) gene have been associated with an increased risk for type 2 diabetes in adults. | genomic_alterations | {
"id": 6932,
"name": "TCF7",
"pos": [
16,
22
]
} | {
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
107,
15
]
} |
In this study, we performed immunophenotypic analysis of peripheral blood NK cells with regard to CD56, CD16, Nkp46, and CD25 markers, as well as IL-10 levels quantification in the sera samples of asymptomatic, H. pylori (Hp)-infected or uninfected individuals, and combined these results with our previous findings on lymphocyte cytotoxic activity. | NA | {
"id": 2214,
"name": "FCGR3A",
"pos": [
104,
4
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
197,
12
]
} |
Tissue bank samples of formalin fixed paraffin embedded neuroblastoma tissue from patients for whom clinical outcome data were available were sectioned and stained with haematoxylin and eosin, and monoclonal antibodies directed against NAT and SSTR2. | biomarker | {
"id": 6752,
"name": "SSTR2",
"pos": [
244,
5
]
} | {
"id": "C0700095",
"name": "Central neuroblastoma",
"pos": [
56,
13
]
} |
We did not confirm the association of early overgrowth with involvement of YWHAE and CRK, or growth failure with duplications of LIS1. | NA | {
"id": 7531,
"name": "YWHAE",
"pos": [
75,
5
]
} | {
"id": "C0015544",
"name": "Failure to Thrive",
"pos": [
93,
14
]
} |
Mutations in inhibitory GABAA receptor subunit genes (GABRA1, GABRB3, GABRG2 and GABRD) have been associated with genetic epilepsy syndromes including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile seizures (FS), generalized epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS)/severe myoclonic epilepsy in infancy (SMEI). | genomic_alterations | {
"id": 2562,
"name": "GABRB3",
"pos": [
62,
6
]
} | {
"id": "C0009952",
"name": "Febrile Convulsions",
"pos": [
225,
16
]
} |
We performed extensive mutation analyses of all 51 coding exons of the LRRK2 gene in index cases from 226 Parkinson's disease families compatible with autosomal dominant inheritance, mostly from France (n = 182) and North Africa (n = 14). | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
71,
5
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
106,
19
]
} |
Both HMSD-v and HMSD transcripts were selectively expressed at higher levels in mature dendritic cells and primary leukemia cells, especially those of myeloid lineage. | NA | {
"id": 284293,
"name": "HMSD",
"pos": [
16,
4
]
} | {
"id": "C0023418",
"name": "leukemia",
"pos": [
115,
8
]
} |
Two of the polyneuropathy patients with IgM amyloidosis had antibodies to MAG based on Western blot (WB) positivity. | NA | {
"id": 2068,
"name": "ERCC2",
"pos": [
74,
3
]
} | {
"id": "C0152025",
"name": "Polyneuropathy",
"pos": [
11,
14
]
} |
Thus we investigated Na+-glucose cotransporter (SGLT2) activity and expression in proximal tubules from renovascular hypertensive rats. | NA | {
"id": 6524,
"name": "SLC5A2",
"pos": [
48,
5
]
} | {
"id": "C0268790",
"name": "Renal vascular disorder",
"pos": [
104,
12
]
} |
The MANBA genotypes were related to CRC risk in the Swedish population (p=0.03), but not in the Chinese population. | genomic_alterations | {
"id": 4126,
"name": "MANBA",
"pos": [
4,
5
]
} | {
"id": "C0009402",
"name": "Colorectal Carcinoma",
"pos": [
36,
3
]
} |
A natural analogy is made of SGLT2 inhibition to observations with inactivating mutations of SGLT2 in patients with FRG, the hereditary condition that results in benign glucosuria. | NA | {
"id": 9855,
"name": "FARP2",
"pos": [
116,
3
]
} | {
"id": "C0017979",
"name": "Glycosuria",
"pos": [
169,
10
]
} |
Recently, expression of the alpha 4 integrin subunit has been shown to be inversely correlated with the invasive potential of B16 mouse epidermal melanoma. | NA | {
"id": 3476,
"name": "IGBP1",
"pos": [
28,
7
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
146,
8
]
} |
Follicular lymphoma is characterized by chromosomal translocation involving BCL2 and immunoglobulin heavy chain genes (IgH). | NA | {
"id": 3492,
"name": "IGH",
"pos": [
85,
32
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
40,
25
]
} |
Recent studies have shown that a variant TATA-box in the promoter region of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene is associated with the development of cholelithiasis. | genomic_alterations | {
"id": 54577,
"name": "UGT1A7",
"pos": [
80,
31
]
} | {
"id": "C0008350",
"name": "Cholelithiasis",
"pos": [
164,
14
]
} |
The ages at the time of 50% thrombosis-free survival were as follows: 34 years for AT deficiency, (19 years with FVL, 21 years with PT20210A), 62 years for PC deficiency (33 years with FVL, 44 years with PT20210A), 37 years for PS deficiency (24 years with FVL, 36 years with PT20210A), 50 years for the FVL mutation (52 years with PT20210A), and 65 years for the PT20210A mutation. | genomic_alterations | {
"id": 5627,
"name": "PROS1",
"pos": [
228,
2
]
} | {
"id": "C0034341",
"name": "Pyruvate Carboxylase Deficiency Disease",
"pos": [
156,
13
]
} |
MALAT1 long ncRNA promotes gastric cancer metastasis by suppressing PCDH10. | biomarker | {
"id": 378938,
"name": "MALAT1",
"pos": [
0,
6
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
27,
14
]
} |
Recent advancements in cancer genetics and molecular biology methods have elucidated the COL1A1-PDGFB fusion gene, some novel fusion gene variants and pathways related to DFSP pathogenesis that have resulted in the evolution of cutaneous sarcoma diagnosis and treatment. | genomic_alterations | {
"id": 5155,
"name": "PDGFB",
"pos": [
96,
5
]
} | {
"id": "C0392784",
"name": "Dermatofibrosarcoma Protuberans",
"pos": [
171,
4
]
} |
Mutations in the THAP1 DNA binding domain, an atypical zinc finger (THAP-zf), have recently been found to cause DYT6 dystonia, a neurological disease characterized by twisting movements and abnormal postures. | NA | {
"id": 55145,
"name": "THAP1",
"pos": [
17,
5
]
} | {
"id": "C0027765",
"name": "nervous system disorder",
"pos": [
129,
20
]
} |
A new asthma susceptibility gene, the G protein-coupled receptor for asthma susceptibility (GPRA, GPR154), has recently been identified and the association was replicated in 2 white populations, but not in a Korean population. | NA | {
"id": 387129,
"name": "NPSR1",
"pos": [
98,
6
]
} | {
"id": "C1869116",
"name": "ASTHMA, SUSCEPTIBILITY TO (finding)",
"pos": [
6,
21
]
} |
Parental Karpas 299 cells also exhibited higher collagenase I activity and greater adhesion to collagenase I than CD26-knockdown or versican-knockdown cells. | NA | {
"id": 1462,
"name": "VCAN",
"pos": [
132,
8
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
83,
8
]
} |
Constitutive GST gene polymorphisms may be associated with increased risk for cancer development. | genomic_alterations | {
"id": 133482,
"name": "SLCO6A1",
"pos": [
13,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
78,
6
]
} |
Impairment in T-cell egress from lymph nodes through decreased S1P responsiveness may contribute to HIV-1-associated LN enlargement and to immune dysregulation in a key organ of immune homeostasis. | NA | {
"id": 8720,
"name": "MBTPS1",
"pos": [
63,
3
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
120,
11
]
} |
T-bet:Eomes balance, effector function, and proliferation of cytomegalovirus-specific CD8+ T cells during primary infection differentiates the capacity for durable immune control. | NA | {
"id": 30009,
"name": "TBX21",
"pos": [
0,
5
]
} | {
"id": "C0010823",
"name": "Cytomegalovirus Infections",
"pos": [
61,
15
]
} |
Galectin-9 as a Predictive Marker for the Onset of Immune-Related Adverse Effects Associated with Anti-CCR4 MoAb Therapy in Patients with Adult T Cell Leukemia. | biomarker | {
"id": 3965,
"name": "LGALS9",
"pos": [
0,
10
]
} | {
"id": "C0023492",
"name": "Leukemia, T-Cell",
"pos": [
138,
21
]
} |
It is possible that genes other than SMN and NAIP may be involved, while somatic mosaicism of SMN gene mutations could be implicated in the segmental nature of distal upper limb SMA. | genomic_alterations | {
"id": 8926,
"name": "SNURF",
"pos": [
94,
3
]
} | {
"id": "C0026847",
"name": "Spinal Muscular Atrophy",
"pos": [
178,
3
]
} |
Zebrafish has a single ortholog of each human FANC gene and unexpectedly, mutations in at least two of them (fancl and fancd1(brca2)) lead to female-to-male sex reversal. | NA | {
"id": 55120,
"name": "FANCL",
"pos": [
109,
5
]
} | {
"id": "C4022995",
"name": "Sex reversal",
"pos": [
157,
12
]
} |
Revisiting liver disease progression in HIV/HCV-coinfected patients: the influence of vitamin D, insulin resistance, immune status, IL28B and PNPLA3. | NA | {
"id": 282617,
"name": "IFNL3",
"pos": [
132,
5
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
97,
18
]
} |
While EpCAM-positive exosomes were detectable in both patients with benign ovarian disease and ovarian cancer, exosomal microRNA from ovarian cancer patients exhibited similar profiles, which were significantly distinct from profiles observed in benign disease. | NA | {
"id": 4072,
"name": "EPCAM",
"pos": [
6,
5
]
} | {
"id": "C0029928",
"name": "Ovarian Diseases",
"pos": [
75,
15
]
} |
Haplotypes in human PTPRJ have also been associated with protective effects for breast cancer risk. | genomic_alterations | {
"id": 5795,
"name": "PTPRJ",
"pos": [
20,
5
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
80,
13
]
} |
This implicates additional tissues and NTD mechanisms in Grhl3 null embryos. | genomic_alterations | {
"id": 57822,
"name": "GRHL3",
"pos": [
57,
5
]
} | {
"id": "C0027794",
"name": "Neural Tube Defects",
"pos": [
39,
3
]
} |
rs13093 in the promoter region of GNG5 may be associated with an increased risk of essential hypertension in the Polish population. | genomic_alterations | {
"id": 2787,
"name": "GNG5",
"pos": [
34,
4
]
} | {
"id": "C0085580",
"name": "Essential Hypertension",
"pos": [
83,
22
]
} |
In cases that lacked a cytogenetically demonstrable t(11;14) translocation, no cyclin D1 transcript was detected. | NA | {
"id": 595,
"name": "CCND1",
"pos": [
79,
9
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
61,
13
]
} |
Using the Multiple intestinal neoplasia/+ (Min/+) mouse model of intestinal tumorigenesis, we found twice as many intestinal polyps overall, twice as many large polyps (>3 mm diameter), and more progression to invasive adenocarcinoma in Min/+ Ahsg-/- mice than in littermates expressing Ahsg. | NA | {
"id": 197,
"name": "AHSG",
"pos": [
287,
4
]
} | {
"id": "C0032584",
"name": "polyps",
"pos": [
161,
6
]
} |
We evaluated the associations between 15 SNPs in 8 candidate pigmentation genes (TYR, TYRP1, OCA2, SLC24A5, SLC45A2, POMC, ASIP and ATRN) and both pigmentary phenotypes (hair color, skin color and tanning ability) and skin cancer risk in a nested case-control study of Caucasians within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases and 870 common controls. | NA | {
"id": 283652,
"name": "SLC24A5",
"pos": [
99,
7
]
} | {
"id": "C0007114",
"name": "Malignant neoplasm of skin",
"pos": [
218,
11
]
} |
The expression of VEGF in liver tissues was proportional to progress of viral hepatitis to cirrhosis with more expression in cases progressed to malignant changes. | NA | {
"id": 7422,
"name": "VEGFA",
"pos": [
18,
4
]
} | {
"id": "C1963279",
"name": "Viral Hepatitis, CTCAE 3",
"pos": [
72,
15
]
} |
This review will describe the evidence that demonstrates the integration of three established pathways: the tumour-suppressive TGF-beta (transforming growth factor-beta) pathway, the tumorigenic PI3K/Akt (phosphoinositide 3-kinase/protein kinase B) pathway and the tumour-suppressive PTEN (phosphatase and tensin homologue deleted on chromosome 10) pathway. | NA | {
"id": 7145,
"name": "TNS1",
"pos": [
306,
6
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
265,
6
]
} |
We have also applied the sensitive fluorescence in situ hybridization (FISH) tandem probe assay to elucidate the frequency of chromosome breakage among a subgroup of the studied individuals harboring the NAT1*10 allele (17 lung cancer patients, 17 smoking controls and 7 non-smoking controls). | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
71,
4
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
223,
11
]
} |
We report a case of AML with a rare 3-way translocation involving chromosomes 1, 9, and 11: t(1;9;11)(p34.2;p22;q23). | NA | {
"id": 79719,
"name": "AAGAB",
"pos": [
102,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
42,
13
]
} |
Genetic risk for acute pancreatitis (AP), recurrent acute pancreatitis (RAP) and chronic pancreatitis (CP) are increasingly recognized. | NA | {
"id": 4043,
"name": "LRPAP1",
"pos": [
72,
3
]
} | {
"id": "C0001339",
"name": "Acute pancreatitis",
"pos": [
17,
18
]
} |
The LOX-1 3'UTR188CT gene polymorphism may predispose to the development of LVH in CAD patients, dependent on blood pressure. | NA | {
"id": 4973,
"name": "OLR1",
"pos": [
4,
5
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
110,
14
]
} |
A search for epigenetic abnormalities led to the discovery of a tissue-specific differentially methylated region (DMR) downstream of the UBE3A coding exons, but the region was not abnormal in autism lymphoblasts or brain samples. | NA | {
"id": 91833,
"name": "WDR20",
"pos": [
114,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
24,
13
]
} |
According to our results sequencing of GJB2 coding regions and IVS1+1G→A specific detection should explain approximately 25% of sporadic NSHL cases and these two tests are relevant for use as routine screening protocol for NSHL in Slovakia. | NA | {
"id": 2706,
"name": "GJB2",
"pos": [
39,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
128,
8
]
} |
Here we compared two mouse models of GABRG2 loss-of-function mutations associated with epilepsy with different severities, Gabrg2<sup>+/Q390X</sup> knockin (KI) and Gabrg2<sup>+/-</sup> knockout (KO) mice. | genomic_alterations | {
"id": 2566,
"name": "GABRG2",
"pos": [
37,
6
]
} | {
"id": "C0014544",
"name": "Epilepsy",
"pos": [
87,
8
]
} |
Hypocortisolism and alteration of pigmentation are caused by the lack of POMC-derived peptides at the adrenal MC2 receptor and the skin MC1 receptor, respectively. | NA | {
"id": 4158,
"name": "MC2R",
"pos": [
110,
12
]
} | {
"id": "C0031911",
"name": "Pigmentation",
"pos": [
34,
12
]
} |
IL-31-induced itch was significantly reduced in TRPV1-deficient and transient receptor channel potential cation channel ankyrin subtype 1 (TRPA1)-deficient mice but not in c-kit or proteinase-activated receptor 2 mice. | NA | {
"id": 8989,
"name": "TRPA1",
"pos": [
139,
5
]
} | {
"id": "C0033774",
"name": "Pruritus",
"pos": [
14,
4
]
} |
Thus, increasing Nrf2 translocation by DJ-1 may represent a novel means for GI protection. | NA | {
"id": 2551,
"name": "GABPA",
"pos": [
17,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
22,
13
]
} |
Comparisons of allele frequencies by the χ(2) test revealed that rs9369640 of the phosphatase and actin regulator 1 gene (PHACTR1, FDR=0.0007), rs4977574 of the CDKN2B antisense RNA 1 gene (CDKN2B-AS1, FDR=0.0038), rs264 of the lipoprotein lipase gene (LPL, FDR=0.0061), rs599839 of the proline/serine-rich coiled-coil 1 gene (PSRC1, FDR=0.0118), rs9319428 of the fms-related tyrosine kinase 1 gene (FLT1, FDR=0.0118) and rs12413409 of the cyclin and CBS domain divalent metal cation transport mediator 2 gene (CNNM2, FDR=0.0300) were significantly associated with MI. | genomic_alterations | {
"id": 4023,
"name": "LPL",
"pos": [
228,
18
]
} | {
"id": "C0027051",
"name": "Myocardial Infarction",
"pos": [
565,
2
]
} |
All individuals were evaluated for HFE mutations, complete blood count, coagulation, glucose, kidney function, liver function, viral hepatitis, C-reactive protein, interleukin 6, tumor necrosis factor α, and serum iron, ferritin, and transferrin saturation. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
164,
13
]
} | {
"id": "C1963279",
"name": "Viral Hepatitis, CTCAE 3",
"pos": [
127,
15
]
} |
IDH1 mutation and MGMT methylation status predict survival in patients with anaplastic astrocytoma treated with temozolomide-based chemoradiotherapy. | genomic_alterations | {
"id": 3417,
"name": "IDH1",
"pos": [
0,
4
]
} | {
"id": "C0280483",
"name": "Adult Anaplastic Astrocytoma",
"pos": [
76,
22
]
} |
All pretreatment specimens from all 22 patients showed abnormalities on immunohistochemical staining and fluorescent in situ hybridization, whereas all post-RFA NSE specimens were normal. | NA | {
"id": 2026,
"name": "ENO2",
"pos": [
161,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
55,
13
]
} |
Cranial MRI revealed subcortical white matter infarcts and leukoencephalopathy. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
8,
3
]
} | {
"id": "C0270612",
"name": "Leukoencephalopathy",
"pos": [
59,
19
]
} |
Our data suggest that the G473A polymorphism of the LOX gene is associated with increased susceptibility to ovarian cancer. | genomic_alterations | {
"id": 4015,
"name": "LOX",
"pos": [
52,
3
]
} | {
"id": "C1140680",
"name": "Malignant neoplasm of ovary",
"pos": [
108,
14
]
} |
A combination of PCR assay to detect gene rearrangement of IgH and cytokine profiling (IL-10 and IL-6) is extremely useful for the diagnosis of intraocular lymphoma. | biomarker | {
"id": 3586,
"name": "IL10",
"pos": [
87,
5
]
} | {
"id": "C0281658",
"name": "Intraocular Lymphoma",
"pos": [
144,
20
]
} |
Periostin, an extracellular matrix protein involved in the process of fibrosis, expressed in tissues subjected to mechanical stress such as intervertebral disc. | NA | {
"id": 10631,
"name": "POSTN",
"pos": [
0,
9
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
70,
8
]
} |
Since expression of SV40 Large T antigen (Tag) has been reported in a subset of human lung tumors where it may inactivate RBL1 and RBL2, we also examined mesothelioma and non-mesothelioma lung tumors for Tag expression. | NA | {
"id": 5933,
"name": "RBL1",
"pos": [
122,
4
]
} | {
"id": "C0025500",
"name": "Mesothelioma",
"pos": [
175,
12
]
} |
In the present study, we used methylation-specific PCR to analyze the DNA methylation status of 11 tumor-related genes (Kip2, p16, hMLH-1, p15, p73, MGMT, DAPK, MINT1, MINT2, MINT31 and HCAD) in 21 specimens of MALT lymphoma, 5 specimens of MALT lymphoma with large cell component (high-grade MALT lymphoma), 15 specimens of diffuse large B-cell lymphoma (DLBCL), 8 specimens of complete remission of MALT lymphoma after eradication therapy, 5 specimens with no evidence of malignancy and PBMCs from 10 healthy donors. | NA | {
"id": 320,
"name": "APBA1",
"pos": [
161,
5
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
474,
10
]
} |
We examined the effects of DAT1 genotype on: Clinical diagnosis in the study sample (n = 418; 190 with schizophrenia), SPEM measures in a subgroup with completed oculomotor measures (n = 200; 87 schizophrenia), and DAT1 gene expression in FEF tissue obtained from postmortem brain samples (n = 32; 16 schizophrenia). | NA | {
"id": 55885,
"name": "LMO3",
"pos": [
215,
4
]
} | {
"id": "C0036341",
"name": "Schizophrenia",
"pos": [
301,
13
]
} |
Here, we enrolled 364 cases of AML to assess the effect of TDT on OS by fractional polynomial regression in the context of clinical parameters and genes of FLT3ITD, NPM1, CEBPA, DNMT3a, and IDH1/2 mutations. | NA | {
"id": 4869,
"name": "NPM1",
"pos": [
165,
4
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
94,
10
]
} |
The objective of this study was to to determine the molecular mechanisms of LTB(4) pathway activation in polymorphonuclear cells (PMNs) and early vascular remodeling in OSA and the specific contribution of intermittent hypoxia (IH). | NA | {
"id": 4050,
"name": "LTB",
"pos": [
76,
3
]
} | {
"id": "C3850148",
"name": "Vascular Remodeling",
"pos": [
146,
19
]
} |
The analysis of the polymorphism A326T of gene ITLN-1 showed that in healthy postmenopausal female with genotype AA birth weight, BMD L2-L4 YA (%) and BMD L2-L4 AM (%) were significantly higher (BMD-bone mineral density; L2-L4-- lumbar vertebrae no 2, 4; YA--peak adult bone mass; AM--age-matched bone mass). | NA | {
"id": 55600,
"name": "ITLN1",
"pos": [
47,
4
]
} | {
"id": "C0005938",
"name": "Bone Density",
"pos": [
297,
9
]
} |
We studied the influence of GSTM1 and GSTT1 polymorphisms on the cognition effects induced by active maternal smoking during pregnancy. | NA | {
"id": 2952,
"name": "GSTT1",
"pos": [
38,
5
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
110,
7
]
} |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.