document_id string | document_text string | title string | abstract string | annotation_ids list | annotation_texts list | annotation_offsets list | annotation_lengths list | annotation_groundings list | annotation_types list | relation_entity1 list | relation_entity2 list | relation_type list | relation_novel list |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
10491763 | Hepatocyte nuclear factor-6: associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion.
The transcription factor hepatocyte nuclear factor (HNF)-6 is an upstream regulator of several genes involved in the pathogenesis of maturity-onset diabetes of t... | Hepatocyte nuclear factor-6: associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion. | The transcription factor hepatocyte nuclear factor (HNF)-6 is an upstream regulator of several genes involved in the pathogenesis of maturity-onset diabetes of the young. We therefore tested the hypothesis that variability in the HNF-6 gene is associated with subsets of Type II (non-insulin-dependent) diabetes mellitus... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22",
"23",
"24",
"25",
"26",
"27",
"28",
"29",
"30",
"31"
] | [
"Hepatocyte nuclear factor-6",
"type II diabetes",
"insulin",
"hepatocyte nuclear factor (HNF)-6",
"maturity-onset diabetes",
"HNF-6",
"Type II (non-insulin-dependent) diabetes mellitus",
"insulin",
"glucose",
"HNF-6",
"MODY",
"MODY1",
"MODY3",
"MODY4",
"patients",
"Type II diabetes",
... | [
0,
74,
140,
184,
292,
389,
430,
497,
518,
620,
676,
715,
722,
732,
754,
779,
1070,
1143,
1216,
1230,
1304,
1379,
1413,
1443,
1460,
1573,
1595,
1606,
1667,
1702,
1738,
1759
] | [
27,
16,
7,
33,
23,
5,
49,
7,
7,
5,
4,
5,
5,
5,
8,
16,
9,
8,
8,
25,
7,
7,
7,
16,
8,
7,
7,
9,
5,
16,
7,
7
] | [
"3175",
"D003924",
"3630",
"3175",
"D003924",
"3175",
"D003924",
"3630",
"D005947",
"3175",
"3172,3651,6927",
"3172",
"6927",
"3651",
"9606",
"D003924",
"rs74805019",
"rs74805019",
"9606",
"D003924",
"D005947",
"D005947",
"D005947",
"D003924",
"9606",
"D005947",
"... | [
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"ChemicalEntity",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"GeneOrGeneProdu... | [
"3175",
"D005947",
"D005947"
] | [
"D003924",
"3630",
"D003924"
] | [
"Association",
"Positive_Correlation",
"Association"
] | [
"No",
"No",
"No"
] |
10661407 | Langerin, a novel C-type lectin specific to Langerhans cells, is an endocytic receptor that induces the formation of Birbeck granules.
We have identified a type II Ca2+-dependent lectin displaying mannose-binding specificity, exclusively expressed by Langerhans cells (LC), and named Langerin. LC are uniquely characteri... | Langerin, a novel C-type lectin specific to Langerhans cells, is an endocytic receptor that induces the formation of Birbeck granules. | We have identified a type II Ca2+-dependent lectin displaying mannose-binding specificity, exclusively expressed by Langerhans cells (LC), and named Langerin. LC are uniquely characterized by Birbeck granules (BG), which are organelles consisting of superimposed and zippered membranes. Here, we have shown that Langerin... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9"
] | [
"Langerin",
"C-type lectin",
"type II Ca2+-dependent lectin",
"mannose",
"Langerin",
"Langerin",
"Langerin",
"Langerin",
"Langerin",
"Langerin"
] | [
0,
18,
156,
197,
284,
447,
514,
590,
699,
890
] | [
8,
13,
29,
7,
8,
8,
8,
8,
8,
8
] | [
"50489",
"50489",
"50489",
"D008358",
"50489",
"50489",
"50489",
"50489",
"50489",
"50489"
] | [
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"ChemicalEntity",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"GeneOrGeneProduct"
] | [
"50489"
] | [
"D008358"
] | [
"Bind"
] | [
"Novel"
] |
10788334 | Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.
We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with... | Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. | We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the thre... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22",
"23"
] | [
"BRCA1",
"breast-ovarian cancer",
"BRCA1",
"BRCA2",
"cancer",
"breast or ovarian cancer",
"cancer",
"breast and ovarian cancers",
"ovarian cancers",
"breast cancers",
"woman",
"BRCA1",
"BRCA2",
"BRCA1",
"BRCA1 abnormalities",
"ovarian cancer",
"breast and ovarian cancer",
"breast c... | [
25,
60,
147,
157,
260,
321,
358,
474,
517,
559,
667,
719,
729,
970,
982,
1044,
1097,
1155,
1200,
1223,
1448,
1470,
1480,
1490
] | [
5,
21,
5,
5,
6,
24,
6,
26,
15,
14,
5,
5,
5,
5,
19,
14,
25,
13,
5,
30,
19,
8,
4,
8
] | [
"672",
"D061325",
"672",
"675",
"D009369",
"D001943,D010051",
"D009369",
"D001943,D010051",
"D010051",
"D001943",
"9606",
"672",
"675",
"672",
"OMIM:604370",
"D010051",
"D001943,D010051",
"D001943",
"675",
"D061325",
"OMIM:604370",
"c|INS|5382|C",
"rs28897672",
"c|DEL|4... | [
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"OrganismTaxon",
"Gen... | [
"D001943",
"D001943",
"D001943",
"D010051",
"D010051",
"D010051",
"c|INS|5382|C",
"c|DEL|4153|A",
"rs28897672",
"OMIM:604370",
"OMIM:604370",
"OMIM:604370",
"672",
"672",
"672",
"672"
] | [
"c|INS|5382|C",
"c|DEL|4153|A",
"rs28897672",
"c|INS|5382|C",
"c|DEL|4153|A",
"rs28897672",
"D061325",
"D061325",
"D061325",
"c|INS|5382|C",
"c|DEL|4153|A",
"rs28897672",
"D001943",
"D010051",
"OMIM:604370",
"D061325"
] | [
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Ass... | [
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"No",
"No",
"Novel",
"No"
] |
11009181 | Apomorphine: an underutilized therapy for Parkinson's disease.
Apomorphine was the first dopaminergic drug ever used to treat symptoms of Parkinson's disease. While powerful antiparkinsonian effects had been observed as early as 1951, the potential of treating fluctuating Parkinson's disease by subcutaneous administrat... | Apomorphine: an underutilized therapy for Parkinson's disease. | Apomorphine was the first dopaminergic drug ever used to treat symptoms of Parkinson's disease. While powerful antiparkinsonian effects had been observed as early as 1951, the potential of treating fluctuating Parkinson's disease by subcutaneous administration of apomorphine has only recently become the subject of syst... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22"
] | [
"Apomorphine",
"Parkinson's disease",
"Apomorphine",
"dopaminergic drug",
"Parkinson's disease",
"Parkinson's disease",
"apomorphine",
"apomorphine",
"levodopa",
"apomorphine",
"patients",
"apomorphine",
"patients",
"dopamine agonists",
"COMT inhibitors",
"apomorphine",
"apomorphine"... | [
0,
42,
63,
89,
138,
273,
327,
493,
590,
608,
678,
745,
827,
930,
951,
1055,
1174,
1248,
1265,
1316,
1407,
1505,
1542
] | [
11,
19,
11,
17,
19,
19,
11,
11,
8,
11,
8,
11,
8,
17,
15,
11,
11,
8,
11,
11,
25,
11,
19
] | [
"D001058",
"D010300",
"D001058",
"D004298",
"D010300",
"D010300",
"D001058",
"D001058",
"D007980",
"D001058",
"9606",
"D001058",
"9606",
"D018491",
"D065098",
"D001058",
"D001058",
"D007980",
"D004409",
"D001058",
"D001523",
"D001058",
"D010300"
] | [
"ChemicalEntity",
"DiseaseOrPhenotypicFeature",
"ChemicalEntity",
"ChemicalEntity",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"ChemicalEntity",
"ChemicalEntity",
"ChemicalEntity",
"ChemicalEntity",
"OrganismTaxon",
"ChemicalEntity",
"OrganismTaxon",
"ChemicalEntity",
"C... | [
"D007980",
"D001058",
"D001058",
"D001058"
] | [
"D004409",
"D007980",
"D004409",
"D010300"
] | [
"Positive_Correlation",
"Negative_Correlation",
"Negative_Correlation",
"Negative_Correlation"
] | [
"No",
"Novel",
"Novel",
"Novel"
] |
11054569 | Rab6c, a new member of the rab gene family, is involved in drug resistance in MCF7/AdrR cells.
A new Rab6 homolog cDNA, Rab6c, was discovered by a hypermethylated DNA fragment probe that was isolated from a human multidrug resistant (MDR) breast cancer cell line, MCF7/AdrR, by the methylation sensitive-representational... | Rab6c, a new member of the rab gene family, is involved in drug resistance in MCF7/AdrR cells. | A new Rab6 homolog cDNA, Rab6c, was discovered by a hypermethylated DNA fragment probe that was isolated from a human multidrug resistant (MDR) breast cancer cell line, MCF7/AdrR, by the methylation sensitive-representational difference analysis (MS-RDA) technique. Rab6c was found to be under-expressed in MCF7/AdrR and... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22",
"23"
] | [
"Rab6c",
"rab",
"MCF7/AdrR",
"Rab6",
"Rab6c",
"human",
"breast cancer",
"MCF7/AdrR",
"Rab6c",
"MCF7/AdrR",
"MES-SA/Dx5",
"human",
"uterine sarcoma",
"MCF7/AdrR",
"Rab6c",
"doxorubicin",
"DOX",
"taxol",
"vinblastine",
"vincristine",
"DOX",
"Rab6c",
"Rab6c",
"MCF7/AdrR"
] | [
0,
27,
78,
101,
120,
207,
239,
264,
361,
402,
416,
430,
440,
516,
557,
627,
640,
646,
653,
670,
821,
892,
927,
967
] | [
5,
3,
9,
4,
5,
5,
13,
9,
5,
9,
10,
5,
15,
9,
5,
11,
3,
5,
11,
11,
3,
5,
5,
9
] | [
"84084",
"5870,84084",
" CVCL_1452",
"5870",
"84084",
"9606",
"D001943",
" CVCL_1452",
"84084",
" CVCL_1452",
"CVCL_2598",
"9606",
"D014594",
" CVCL_1452",
"84084",
"D004317",
"D004317",
"D017239",
"D014747",
"D014750",
"D004317",
"84084",
"84084",
" CVCL_1452"
] | [
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"CellLine",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"OrganismTaxon",
"DiseaseOrPhenotypicFeature",
"CellLine",
"GeneOrGeneProduct",
"CellLine",
"CellLine",
"OrganismTaxon",
"DiseaseOrPhenotypicFeature",
"CellLine",
"GeneOrGeneProduct",
"Chemi... | [
"D014594",
"84084",
"84084",
"84084",
"84084"
] | [
"84084",
"D014750",
"D014747",
"D017239",
"D004317"
] | [
"Association",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation"
] | [
"Novel",
"Novel",
"Novel",
"Novel",
"Novel"
] |
11773892 | End-stage renal disease (ESRD) after orthotopic liver transplantation (OLTX) using calcineurin-based immunotherapy: risk of development and treatment.
BACKGROUND: The calcineurin inhibitors cyclosporine and tacrolimus are both known to be nephrotoxic. Their use in orthotopic liver transplantation (OLTX) has dramaticall... | End-stage renal disease (ESRD) after orthotopic liver transplantation (OLTX) using calcineurin-based immunotherapy: risk of development and treatment. | BACKGROUND: The calcineurin inhibitors cyclosporine and tacrolimus are both known to be nephrotoxic. Their use in orthotopic liver transplantation (OLTX) has dramatically improved success rates. Recently, however, we have had an increase of patients who are presenting after OLTX with end-stage renal disease (ESRD). Thi... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22",
"23",
"24",
"25",
"26",
"27",
"28",
"29",
"30",
"31",
"32",
"33",
"34",
"35",
"36",
"37",
"38",
"39",
"40",
... | [
"End-stage renal disease",
"ESRD",
"calcineurin",
"calcineurin",
"cyclosporine",
"tacrolimus",
"nephrotoxic",
"patients",
"end-stage renal disease",
"ESRD",
"ESRD",
"chronic renal failure",
"CRF",
"patients",
"Patients",
"Patients",
"CRF",
"ESRD",
"CRF",
"creatinine",
"ESRD",... | [
0,
25,
83,
167,
190,
207,
239,
392,
436,
461,
533,
542,
565,
578,
597,
797,
851,
858,
871,
892,
925,
1051,
1092,
1155,
1184,
1197,
1231,
1241,
1249,
1254,
1293,
1336,
1350,
1480,
1627,
1762,
1769,
1948,
1965,
2027,
2047,
2089,
2109,... | [
23,
4,
11,
11,
12,
10,
11,
8,
23,
4,
4,
21,
3,
8,
8,
8,
3,
4,
3,
10,
4,
4,
4,
17,
3,
4,
8,
3,
4,
8,
10,
8,
20,
10,
10,
3,
4,
8,
4,
8,
4,
4,
8,
8,
4,
8,
3,
4,
4,
8,
8,
4,
10,
20,
10,
3,
4
] | [
"D007676",
"D007676",
"5530",
"5530",
"D016572",
"D016559",
"D007674",
"9606",
"D007676",
"D007676",
"D007676",
"D007676",
"D007676",
"9606",
"9606",
"9606",
"D007676",
"D007676",
"D007676",
"D003404",
"D007676",
"D007676",
"D007676",
"D007674",
"D007676",
"D007676"... | [
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"ChemicalEntity",
"ChemicalEntity",
"DiseaseOrPhenotypicFeature",
"OrganismTaxon",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypi... | [
"5530",
"5530",
"D006530",
"D016559",
"D007676",
"D016572"
] | [
"D016559",
"D016572",
"D003404",
"D007674",
"D003404",
"D007674"
] | [
"Negative_Correlation",
"Negative_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation"
] | [
"No",
"No",
"Novel",
"No",
"Novel",
"No"
] |
12442272 | D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype.
More than 100 different heterozygous mutations in copper/zinc superoxide dismutase (SOD1) have been found in patients with amyotrophic lateral sclerosis (ALS), a f... | D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype. | More than 100 different heterozygous mutations in copper/zinc superoxide dismutase (SOD1) have been found in patients with amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease. Uniquely, D90A-SOD1 has been identified in recessive, dominant and apparently sporadic pedigrees. The phenotype of homozygote... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19"
] | [
"D90A",
"SOD1",
"amyotrophic lateral sclerosis",
"copper/zinc superoxide dismutase",
"SOD1",
"patients",
"amyotrophic lateral sclerosis",
"ALS",
"neurodegenerative disease",
"D90A",
"SOD1",
"D90A",
"SOD1",
"ALS",
"ALS",
"D90A",
"SOD1",
"D90A",
"SOD1",
"ALS"
] | [
0,
5,
19,
207,
241,
266,
280,
311,
325,
362,
367,
585,
590,
659,
777,
1041,
1346,
1459,
1464,
1511
] | [
4,
4,
29,
32,
4,
8,
29,
3,
25,
4,
4,
4,
4,
3,
3,
4,
4,
4,
4,
3
] | [
"rs80265967",
"6647",
"D000690",
"6647",
"6647",
"9606",
"D000690",
"D000690",
"D019636",
"rs80265967",
"6647",
"rs80265967",
"6647",
"D000690",
"D000690",
"rs80265967",
"6647",
"rs80265967",
"6647",
"D000690"
] | [
"SequenceVariant",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"OrganismTaxon",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"SequenceVariant",
"GeneOrGeneProduct",
"SequenceVariant",
"GeneOrGenePro... | [
"6647",
"rs80265967"
] | [
"D000690",
"D000690"
] | [
"Association",
"Negative_Correlation"
] | [
"Novel",
"Novel"
] |
1353340 | Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.
We report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In ... | Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. | We report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In contrast to alleles that cause early-onset MLD, the arginine84 to glutamine su... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14"
] | [
"metachromatic leukodystrophy",
"arylsulfatase A",
"ARSA",
"metachromatic leukodystrophy",
"MLD",
"arginine84",
"arylsulfatase",
"MLD",
"arginine84 to glutamine",
"ARSA",
"ARSA",
"patients",
"MLD",
"ARSA",
"MLD"
] | [
11,
111,
128,
159,
189,
210,
264,
363,
372,
442,
484,
562,
576,
655,
712
] | [
28,
15,
4,
28,
3,
10,
13,
3,
23,
4,
4,
8,
3,
4,
3
] | [
"D007966",
"410",
"410",
"D007966",
"D007966",
"rs74315458",
"410",
"D007966",
"rs74315458",
"410",
"410",
"9606",
"D007966",
"410",
"D007966"
] | [
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"SequenceVariant",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"SequenceVariant",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"OrganismTaxon",
"DiseaseOrPh... | [
"410",
"rs74315458"
] | [
"D007966",
"D007966"
] | [
"Association",
"Positive_Correlation"
] | [
"No",
"Novel"
] |
14722929 | Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants.
A large proportion of non-syndromic autosomal recessive deafness (NSARD) in many populations is caused by variants of the GJB2 gene. Here, the frequency of GJB2 variants was studied in 406 and 183 apparently unrelated childre... | Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants. | A large proportion of non-syndromic autosomal recessive deafness (NSARD) in many populations is caused by variants of the GJB2 gene. Here, the frequency of GJB2 variants was studied in 406 and 183 apparently unrelated children from Kenya and Sudan, respectively, with mostly severe to profound non-syndromic deafness. Ni... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22",
"23",
"24",
"25",
"26",
"27",
"28",
"29",
"30",
"31",
"32",
"33",
"34",
"35",
"36",
"37",
"38",
"39",
"40",
... | [
"deafness",
"GJB2",
"GJB2",
"non-syndromic autosomal recessive deafness",
"NSARD",
"GJB2",
"GJB2",
"non-syndromic deafness",
"GJB2",
"GJB2",
"g.3318-6T>A",
"g.3318-15C>T",
"g.3318-34C>T",
"g.3318-35T>G",
"g.3455_3460del",
"p.Asp46_Gln48delinsGlu",
"g.3512C>A",
"p.Tyr65X",
"g.3395... | [
17,
37,
80,
117,
161,
217,
251,
389,
538,
729,
749,
762,
776,
790,
829,
845,
906,
917,
950,
961,
971,
982,
992,
1003,
1047,
1058,
1120,
1152,
1162,
1172,
1183,
1196,
1207,
1221,
1232,
1250,
1261,
1313,
1330,
1490,
1558,
1611,
1718
] | [
8,
4,
4,
42,
5,
4,
4,
22,
4,
4,
11,
12,
12,
12,
14,
22,
9,
8,
9,
7,
9,
7,
9,
8,
9,
11,
10,
6,
7,
9,
10,
9,
11,
9,
11,
9,
11,
12,
10,
5,
8,
4,
8
] | [
"D003638",
"2706",
"2706",
"C567134",
"C567134",
"2706",
"2706",
"D003638",
"2706",
"2706",
"g|SUB|T|3318-6|A",
"g|SUB|C|3318-15|T",
"g|SUB|C|3318-34|T",
"g|SUB|T|3318-35|G",
"g|DEL|3455_3460|",
"p|INDEL|46_48|Glu",
"rs763572195",
"rs763572195",
"g|SUB|C|3395|T",
"p|Allele|T|26... | [
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"SequenceVariant",
"SequenceVariant",
"Sequenc... | [
"2706"
] | [
"C567134"
] | [
"Association"
] | [
"No"
] |
15099351 | Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia.
Proprotein convertase subtilisin/kexin type 9 (PCSK9) is at a locus for autosomal dominant hypercholesterolemia, and recent data indicate that the PCSK9 gene is involved in cholesterol biosynthesis. Mutations within this gen... | Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia. | Proprotein convertase subtilisin/kexin type 9 (PCSK9) is at a locus for autosomal dominant hypercholesterolemia, and recent data indicate that the PCSK9 gene is involved in cholesterol biosynthesis. Mutations within this gene have previously been found to segregate with hypercholesterolemia. In this study, DNA sequenci... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22"
] | [
"PCSK9",
"autosomal dominant hypercholesterolemia",
"Proprotein convertase subtilisin/kexin type 9",
"PCSK9",
"autosomal dominant hypercholesterolemia",
"PCSK9",
"cholesterol",
"hypercholesterolemia",
"PCSK9",
"familial hypercholesterolemia",
"low-density lipoprotein receptor",
"R3500Q",
"ap... | [
17,
55,
96,
143,
168,
243,
269,
367,
442,
526,
579,
630,
644,
766,
782,
814,
829,
867,
877,
884,
906,
1055,
1072
] | [
5,
39,
45,
5,
39,
5,
11,
20,
5,
29,
32,
6,
20,
5,
8,
5,
7,
5,
5,
5,
20,
5,
39
] | [
"255738",
"D006938",
"255738",
"255738",
"D006938",
"255738",
"D002784",
"D006937",
"255738",
"D006937",
"3949",
"rs5742904",
"338",
"255738",
"9606",
"rs137852912",
"9606",
"rs137852912",
"rs143117125",
"rs137852912",
"D006937",
"255738",
"D006938"
] | [
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"ChemicalEntity",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"SequenceVariant",
"GeneOrGe... | [
"rs143117125",
"D006938",
"255738",
"255738",
"rs137852912",
"D006937"
] | [
"D006938",
"255738",
"D002784",
"D006937",
"D006938",
"rs137852912"
] | [
"Positive_Correlation",
"Association",
"Association",
"Association",
"Positive_Correlation",
"Association"
] | [
"Novel",
"Novel",
"No",
"No",
"Novel",
"Novel"
] |
15122708 | Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.
Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes accoun... | Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. | Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22",
"23",
"24",
"25",
"26",
"27",
"28",
"29",
"30",
"31",
"32"
] | [
"Desmin-related myopathy",
"selenoprotein N",
"Desmin-related myopathies",
"DRMs",
"muscle disorders",
"desmin",
"desmin",
"alpha-B crystallin",
"DRM",
"DRMs",
"patients",
"selenoprotein N",
"SEPN1",
"SEPN-related myopathy",
"SEPN-RM",
"myopathy",
"rigid spine muscular dystrophy",
... | [
0,
88,
110,
137,
172,
249,
274,
289,
357,
501,
547,
585,
607,
633,
656,
687,
754,
818,
924,
976,
984,
1010,
1077,
1127,
1143,
1186,
1238,
1246,
1319,
1348,
1416,
1458,
1551
] | [
23,
15,
25,
4,
16,
6,
6,
18,
3,
4,
8,
15,
5,
21,
7,
8,
30,
21,
7,
3,
5,
3,
5,
5,
25,
8,
3,
7,
3,
7,
3,
7,
10
] | [
"C563319",
"57190",
"C563319",
"C563319",
"D009135",
"1674",
"1674",
"1410",
"C563319",
"C563319",
"9606",
"57190",
"57190",
"D009135",
"D009135",
"D009135",
"C535683",
"C564969",
"D009135",
"C563319",
"57190",
"C563319",
"57190",
"57190",
"c|DEL|-19_+73|92",
"9606"... | [
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"OrganismTaxon",
"GeneOrGenePr... | [
"1410",
"1674",
"57190",
"57190",
"57190",
"C563319",
"C563319"
] | [
"C563319",
"C563319",
"C564969",
"C535683",
"D009135",
"c|DEL|-19_+73|92",
"57190"
] | [
"Association",
"Association",
"Association",
"Association",
"Association",
"Positive_Correlation",
"Association"
] | [
"No",
"No",
"No",
"No",
"No",
"Novel",
"Novel"
] |
15177686 | Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes.
DiGeorge and Velocardiofacial syndromes (DGS/VCFS) are endowed by a similar complex phenotype including cardiovascular, craniofacial, and thymic malformations, and are associated with heterozygous deletions of 22q11 chro... | Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes. | DiGeorge and Velocardiofacial syndromes (DGS/VCFS) are endowed by a similar complex phenotype including cardiovascular, craniofacial, and thymic malformations, and are associated with heterozygous deletions of 22q11 chromosomal band. The Typically Deleted Region in the 22q11.21 subband (here called TDR22) is very gene-... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16"
] | [
"HIRA",
"Tuple1",
"DiGeorge and Velocardiofacial syndromes",
"DiGeorge and Velocardiofacial syndromes",
"DGS",
"VCFS",
"cardiovascular, craniofacial, and thymic malformations",
"DGS",
"VCFS",
"HIRA",
"Tuple1",
"DGS",
"VCFS",
"HIRA",
"Tuple1",
"DGS",
"VCFS"
] | [
34,
39,
59,
100,
141,
145,
204,
608,
612,
675,
680,
724,
728,
845,
850,
1214,
1218
] | [
4,
6,
39,
39,
3,
4,
54,
3,
4,
4,
6,
3,
4,
4,
6,
3,
4
] | [
"7290",
"7290",
"D004062",
"D004062",
"D004062",
"D004062",
"D018376,D019465",
"D004062",
"D004062",
"7290",
"7290",
"D004062",
"D004062",
"7290",
"7290",
"D004062",
"D004062"
] | [
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
... | [
"7290"
] | [
"D004062"
] | [
"Association"
] | [
"Novel"
] |
15188772 | Severe reversible left ventricular systolic and diastolic dysfunction due to accidental iatrogenic epinephrine overdose.
Catecholamine-induced cardiomyopathy due to chronic excess of endogenous catecholamines has been recognized for decades as a clinical phenomenon. In contrast, reports of myocardial dysfunction due to... | Severe reversible left ventricular systolic and diastolic dysfunction due to accidental iatrogenic epinephrine overdose. | Catecholamine-induced cardiomyopathy due to chronic excess of endogenous catecholamines has been recognized for decades as a clinical phenomenon. In contrast, reports of myocardial dysfunction due to acute iatrogenic overdose are rare. A 35-year-old woman whose cervix uteri was inadvertently injected with 8 mg of epine... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10"
] | [
"left ventricular systolic and diastolic dysfunction",
"epinephrine",
"Catecholamine",
"cardiomyopathy",
"catecholamines",
"myocardial dysfunction",
"woman",
"epinephrine",
"myocardial stunning",
"left ventricular systolic and diastolic dysfunction",
"myocardial necrosis"
] | [
18,
99,
121,
143,
194,
291,
371,
436,
458,
563,
666
] | [
51,
11,
13,
14,
14,
22,
5,
11,
19,
51,
19
] | [
"D018487",
"D004837",
"D002395",
"D009202",
"D002395",
"D009202",
"9606",
"D004837",
"D017682",
"D018487",
"D009202"
] | [
"DiseaseOrPhenotypicFeature",
"ChemicalEntity",
"ChemicalEntity",
"DiseaseOrPhenotypicFeature",
"ChemicalEntity",
"DiseaseOrPhenotypicFeature",
"OrganismTaxon",
"ChemicalEntity",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature"
] | [
"D002395",
"D009202",
"D004837",
"D018487"
] | [
"D009202",
"D004837",
"D017682",
"D004837"
] | [
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation"
] | [
"No",
"Novel",
"Novel",
"Novel"
] |
15266215 | Effects of the cyclooxygenase-2 specific inhibitor valdecoxib versus nonsteroidal antiinflammatory agents and placebo on cardiovascular thrombotic events in patients with arthritis.
There have been concerns that the risk of cardiovascular thrombotic events may be higher with cyclooxygenase (COX)-2-specific inhibitors t... | Effects of the cyclooxygenase-2 specific inhibitor valdecoxib versus nonsteroidal antiinflammatory agents and placebo on cardiovascular thrombotic events in patients with arthritis. | There have been concerns that the risk of cardiovascular thrombotic events may be higher with cyclooxygenase (COX)-2-specific inhibitors than nonselective nonsteroidal antiinflammatory drugs (NSAIDs). We evaluated cardiovascular event data for valdecoxib, a new COX-2-specific inhibitor in approximately 8000 patients wi... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22",
"23",
"24",
"25",
"26",
"27",
"28",
"29",
"30",
"31",
"32",
"33",
"34",
"35",
"36",
"37",
"38",
"39",
"40",
... | [
"cyclooxygenase-2",
"valdecoxib",
"nonsteroidal antiinflammatory agents",
"thrombotic",
"patients",
"arthritis",
"thrombotic",
"cyclooxygenase (COX)-2",
"nonsteroidal antiinflammatory drugs",
"NSAIDs",
"valdecoxib",
"COX-2",
"patients",
"osteoarthritis",
"rheumatoid arthritis",
"thromb... | [
15,
51,
69,
136,
157,
171,
239,
276,
337,
374,
426,
444,
491,
505,
524,
632,
713,
760,
802,
809,
831,
856,
913,
932,
1047,
1113,
1148,
1210,
1245,
1257,
1298,
1342,
1359,
1412,
1443,
1474,
1501,
1557,
1616,
1751,
1818,
1861,
1882,
... | [
16,
10,
36,
10,
8,
9,
10,
22,
35,
6,
10,
5,
8,
14,
20,
10,
10,
10,
5,
10,
9,
8,
14,
20,
8,
7,
7,
10,
10,
6,
10,
10,
10,
7,
7,
10,
6,
7,
10,
10,
10,
6,
14,
20,
8
] | [
"5743",
"C406224",
"D000894",
"D013927",
"9606",
"D001168",
"D013927",
"5743",
"D000894",
"D000894",
"C406224",
"5743",
"9606",
"D010003",
"D001172",
"D013927",
"D013927",
"C406224",
"D000894",
"D004008",
"D007052",
"D009288",
"D010003",
"D001172",
"9606",
"D001241"... | [
"GeneOrGeneProduct",
"ChemicalEntity",
"ChemicalEntity",
"DiseaseOrPhenotypicFeature",
"OrganismTaxon",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"ChemicalEntity",
"ChemicalEntity",
"ChemicalEntity",
"GeneOrGeneProduct",
"OrganismTaxon",
"DiseaseOrPhe... | [
"D013927",
"C406224",
"C406224",
"C406224",
"C406224",
"5743"
] | [
"D001241",
"D001172",
"D010003",
"D000894",
"D001168",
"C406224"
] | [
"Positive_Correlation",
"Negative_Correlation",
"Negative_Correlation",
"Comparison",
"Negative_Correlation",
"Negative_Correlation"
] | [
"Novel",
"No",
"No",
"Novel",
"No",
"No"
] |
16005363 | Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome.
Wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive optic atrophy, sensorineural deafness and diabetes insipidus. Affected individuals may also have renal... | Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome. | Wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive optic atrophy, sensorineural deafness and diabetes insipidus. Affected individuals may also have renal tract abnormalities as well as neurogical and psychiatric syndromes. WFS1 encoding a transmembrane ... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22",
"23"
] | [
"WFS1",
"AFF344-345ins",
"patients",
"Wolfram syndrome",
"Wolfram syndrome",
"WFS",
"autosomal recessive disorder",
"diabetes mellitus",
"optic atrophy",
"sensorineural deafness",
"diabetes insipidus",
"renal tract abnormalities",
"psychiatric syndromes",
"WFS1",
"WFS",
"WFS1",
"pati... | [
26,
41,
68,
82,
100,
118,
129,
187,
218,
233,
260,
315,
367,
390,
471,
559,
578,
622,
649,
691,
716,
764,
835,
905
] | [
4,
13,
8,
16,
16,
3,
28,
17,
13,
22,
18,
25,
21,
4,
3,
4,
8,
25,
13,
8,
15,
3,
3,
3
] | [
"7466",
"p|INS|344_345|AFF",
"9606",
"D014929",
"D014929",
"D014929",
"D030342",
"D003920",
"D009896",
"D006319",
"D003919",
"D007674",
"D001523",
"7466",
"D014929",
"7466",
"9606",
"c|INS||9",
"p|INS|344_345|AFF",
"9606",
"D007018",
"D014929",
"D014929",
"D014929"
] | [
"GeneOrGeneProduct",
"SequenceVariant",
"OrganismTaxon",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",... | [
"c|INS||9",
"7466",
"p|INS|344_345|AFF"
] | [
"D014929",
"D014929",
"D014929"
] | [
"Positive_Correlation",
"Association",
"Positive_Correlation"
] | [
"Novel",
"Novel",
"Novel"
] |
16200390 | A genetic analysis of serotonergic biosynthetic and metabolic enzymes in migraine using a DNA pooling approach.
Migraine is a common debilitating primary headache disorder with significant mental, physical and social health implications. The brain neurotransmitter 5-hydroxytryptamine (5-HT; serotonin) is involved in no... | A genetic analysis of serotonergic biosynthetic and metabolic enzymes in migraine using a DNA pooling approach. | Migraine is a common debilitating primary headache disorder with significant mental, physical and social health implications. The brain neurotransmitter 5-hydroxytryptamine (5-HT; serotonin) is involved in nociceptive pathways and has been implicated in the pathophysiology of migraine. With few genetic studies investig... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21"
] | [
"migraine",
"Migraine",
"headache disorder",
"neurotransmitter",
"5-hydroxytryptamine",
"5-HT",
"serotonin",
"migraine",
"5-HT",
"migraine",
"human",
"tryptophan hydroxylase",
"TPH",
"amino acid decarboxylase",
"AADC",
"monoamine oxidase A",
"MAOA",
"migraine",
"TPH",
"AADC",
... | [
73,
112,
154,
248,
265,
286,
292,
389,
495,
535,
618,
624,
648,
654,
680,
690,
711,
726,
1340,
1345,
1354,
1395
] | [
8,
8,
17,
16,
19,
4,
9,
8,
4,
8,
5,
22,
3,
24,
4,
19,
4,
8,
3,
4,
4,
8
] | [
"D008881",
"D008881",
"D020773",
"D018377",
"D012701",
"D012701",
"D012701",
"D008881",
"D012701",
"D008881",
"9606",
"7166",
"7166",
"1644",
"1644",
"4128",
"4128",
"D008881",
"7166",
"1644",
"4128",
"D008881"
] | [
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"ChemicalEntity",
"ChemicalEntity",
"ChemicalEntity",
"ChemicalEntity",
"DiseaseOrPhenotypicFeature",
"ChemicalEntity",
"DiseaseOrPhenotypicFeature",
"OrganismTaxon",
"GeneOrGeneProduct",
"GeneOrGenePro... | [
"D012701"
] | [
"D008881"
] | [
"Positive_Correlation"
] | [
"No"
] |
16369751 | 5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine.
Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was... | 5-Fluorouracil cardiotoxicity induced by alpha-fluoro-beta-alanine. | Cardiotoxicity is a rare complication occurring during 5-fluorouracil (5-FU) treatment for malignancies. We herein report the case of a 70-year-old man with 5-FU-induced cardiotoxicity, in whom a high serum level of alpha-fluoro-beta-alanine (FBAL) was observed. The patient, who had unresectable colon cancer metastases... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22",
"23",
"24",
"25",
"26",
"27",
"28",
"29",
"30",
"31",
"32",
"33",
"34",
"35",
"36",
"37",
"38",
"39",
"40",
... | [
"5-Fluorouracil",
"cardiotoxicity",
"alpha-fluoro-beta-alanine",
"Cardiotoxicity",
"5-fluorouracil",
"5-FU",
"malignancies",
"man",
"5-FU",
"cardiotoxicity",
"alpha-fluoro-beta-alanine",
"FBAL",
"patient",
"colon cancer",
"metastases",
"patient",
"5-FU",
"precordial pain",
"right... | [
0,
15,
41,
68,
123,
139,
159,
216,
225,
238,
284,
311,
335,
365,
378,
525,
579,
612,
633,
700,
743,
851,
864,
888,
931,
944,
982,
1034,
1055,
1114,
1152,
1220,
1230,
1246,
1353,
1388,
1424,
1497,
1597,
1616,
1629,
1645,
1679,
1693... | [
14,
14,
25,
14,
14,
4,
12,
3,
4,
14,
25,
4,
7,
12,
10,
7,
4,
15,
25,
4,
15,
4,
15,
7,
4,
14,
4,
3,
4,
3,
17,
4,
4,
4,
3,
16,
7,
3,
4,
4,
14,
3,
8,
4,
14
] | [
"D005472",
"D066126",
"C032348",
"D066126",
"D005472",
"D005472",
"D009369",
"9606",
"D005472",
"D066126",
"C032348",
"C032348",
"9606",
"D003110",
"D009362",
"9606",
"D005472",
"D002637",
"D002037",
"C032348",
"D002637",
"D005472",
"D002637",
"9606",
"D005472",
"D0... | [
"ChemicalEntity",
"DiseaseOrPhenotypicFeature",
"ChemicalEntity",
"DiseaseOrPhenotypicFeature",
"ChemicalEntity",
"ChemicalEntity",
"DiseaseOrPhenotypicFeature",
"OrganismTaxon",
"ChemicalEntity",
"DiseaseOrPhenotypicFeature",
"ChemicalEntity",
"ChemicalEntity",
"OrganismTaxon",
"DiseaseOr... | [
"C079198",
"D006331",
"D066126",
"D066126",
"D002637",
"D002637",
"C032348",
"D002037",
"D005472",
"D005472",
"D005472",
"D005472"
] | [
"D005472",
"C079198",
"C079198",
"C032348",
"C032348",
"D005472",
"C079198",
"C032348",
"D009369",
"D066126",
"C032348",
"D002037"
] | [
"Comparison",
"Negative_Correlation",
"Negative_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Negative_Correlation",
"Positive_Correlation",
"Negative_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation"
] | [
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"No",
"Novel",
"Novel",
"Novel"
] |
16596970 | Pilocarpine seizures cause age-dependent impairment in auditory location discrimination.
Children who have status epilepticus have continuous or rapidly repeating seizures that may be life-threatening and may cause life-long changes in brain and behavior. The extent to which status epilepticus causes deficits in audito... | Pilocarpine seizures cause age-dependent impairment in auditory location discrimination. | Children who have status epilepticus have continuous or rapidly repeating seizures that may be life-threatening and may cause life-long changes in brain and behavior. The extent to which status epilepticus causes deficits in auditory discrimination is unknown. A naturalistic auditory location discrimination method was ... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22",
"23",
"24",
"25",
"26",
"27"
] | [
"Pilocarpine",
"seizures",
"impairment in auditory location discrimination",
"status epilepticus",
"seizures",
"status epilepticus",
"deficits in auditory discrimination",
"status epilepticus",
"rats",
"pilocarpine",
"Pilocarpine",
"status epilepticus",
"status epilepticus",
"CA3",
"seiz... | [
0,
12,
41,
107,
163,
276,
302,
465,
505,
585,
612,
646,
666,
704,
734,
756,
793,
810,
911,
962,
987,
1074,
1099,
1185,
1207,
1246,
1326,
1371
] | [
11,
8,
46,
18,
8,
18,
35,
18,
4,
11,
11,
18,
18,
3,
8,
4,
8,
4,
4,
18,
4,
18,
4,
18,
3,
37,
41,
6
] | [
"D010862",
"D012640",
"D001308",
"D013226",
"D012640",
"D013226",
"D001308",
"D013226",
"10116",
"D010862",
"D010862",
"D013226",
"D013226",
"CVCL_JW73",
"D012640",
"10116",
"D012640",
"10116",
"10116",
"D013226",
"10116",
"D013226",
"10116",
"D013226",
"10116",
"D0... | [
"ChemicalEntity",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"OrganismTaxon",
"ChemicalEntity",
"ChemicalEntity",
"DiseaseOrPhe... | [
"D010862",
"D010862",
"D010862"
] | [
"D013226",
"D001308",
"D012640"
] | [
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation"
] | [
"Novel",
"Novel",
"No"
] |
17000021 | No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations.
INTRODUCTION: The PTPN22 is a negative regulator of the T cell response. Its +1858C>T (R620W) polymorphism has been shown to associate with a risk ... | No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations. | INTRODUCTION: The PTPN22 is a negative regulator of the T cell response. Its +1858C>T (R620W) polymorphism has been shown to associate with a risk for multiple autoimmune diseases, including type 1 diabetes (T1D) and juvenile idiopathic arthritis (JIA). The minor (susceptibility) allele is absent in Asian populations, ... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22",
"23",
"24",
"25",
"26",
"27",
"28",
"29"
] | [
"-1123 G>C",
"+2740 A>G",
"PTPN22",
"type 1 diabetes",
"juvenile idiopathic arthritis",
"PTPN22",
"+1858C>T",
"R620W",
"autoimmune diseases",
"type 1 diabetes",
"T1D",
"juvenile idiopathic arthritis",
"JIA",
"PTPN22",
"T1D",
"JIA",
"T1D",
"rs2488457",
"rs2476601",
"R620W",
"r... | [
27,
40,
81,
93,
113,
191,
250,
260,
333,
364,
381,
390,
421,
712,
789,
802,
823,
900,
919,
934,
966,
1049,
1072,
1144,
1549,
1593,
1672,
1751,
1846,
2099
] | [
9,
9,
6,
15,
29,
6,
8,
5,
19,
15,
3,
29,
3,
6,
3,
3,
3,
9,
9,
5,
9,
3,
3,
3,
23,
3,
3,
23,
21,
6
] | [
"rs2488457",
"rs1217412",
"26191",
"D003922",
"D001171",
"26191",
"rs2476601",
"rs2476601",
"D001327",
"D003922",
"D003922",
"D001171",
"D001171",
"26191",
"D003922",
"D001171",
"D003922",
"rs2488457",
"rs2476601",
"rs2476601",
"rs1217412",
"D003922",
"D001171",
"D00392... | [
"SequenceVariant",
"SequenceVariant",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"SequenceVariant",
"SequenceVariant",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeatur... | [
"26191",
"26191",
"26191",
"rs2476601",
"rs2476601",
"rs2476601",
"rs2488457"
] | [
"D001327",
"D003922",
"D001171",
"D001327",
"D003922",
"D001171",
"rs1217412"
] | [
"Association",
"Association",
"Association",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Association"
] | [
"No",
"No",
"No",
"No",
"Novel",
"No",
"Novel"
] |
17006606 | A polymorphism of C-to-T substitution at -31 IL1B is associated with the risk of advanced gastric adenocarcinoma in a Japanese population.
Proinflammatory cytokine gene polymorphisms have been demonstrated to associate with gastric cancer risk, of which IL1B-31T/C and -511C/T changes have been well investigated due to ... | A polymorphism of C-to-T substitution at -31 IL1B is associated with the risk of advanced gastric adenocarcinoma in a Japanese population. | Proinflammatory cytokine gene polymorphisms have been demonstrated to associate with gastric cancer risk, of which IL1B-31T/C and -511C/T changes have been well investigated due to the possibility that they may alter the IL1B transcription. The signal transduction target upon interleukin 1 beta (IL1beta) stimulation, t... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22",
"23",
"24",
"25",
"26",
"27",
"28",
"29",
"30",
"31",
"32",
"33",
"34",
"35",
"36",
"37",
"38",
"39",
"40",
... | [
"C-to-T substitution at -31",
"IL1B",
"gastric adenocarcinoma",
"Proinflammatory cytokine",
"gastric cancer",
"IL1B",
"-31T/C",
"-511C/T",
"IL1B",
"interleukin 1 beta",
"IL1beta",
"nuclear factor of kappa B",
"NFkappaB",
"cancer",
"FS-7 cell-associated cell surface antigen",
"FAS",
"... | [
18,
45,
90,
139,
224,
254,
258,
269,
360,
416,
436,
462,
489,
520,
584,
627,
727,
749,
804,
819,
849,
867,
937,
960,
1090,
1115,
1147,
1172,
1191,
1249,
1267,
1329,
1360,
1455,
1459,
1469,
1473,
1617,
1621,
1631,
1635,
1716,
1720,
... | [
26,
4,
22,
24,
14,
4,
6,
7,
4,
18,
7,
25,
8,
6,
41,
3,
8,
6,
14,
8,
4,
3,
22,
8,
16,
15,
16,
15,
4,
4,
3,
22,
3,
4,
5,
4,
6,
4,
5,
4,
6,
4,
5,
4,
6
] | [
"rs1143627",
"3553",
"D013274",
"3553",
"D013274",
"3553",
"rs1143627",
"rs1143634",
"3553",
"3553",
"3553",
"4790",
"4790",
"D009369",
"355",
"355",
"4790",
"D009369",
"D013274",
"9606",
"3553",
"355",
"D013274",
"9606",
"rs1143634",
"rs1143627",
"rs1143634",
"... | [
"SequenceVariant",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"SequenceVariant",
"SequenceVariant",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"Dise... | [
"rs1143634",
"4790",
"3553",
"3553",
"3553",
"D013274",
"rs1143627"
] | [
"rs1143627",
"D009369",
"D009369",
"4790",
"D013274",
"rs1143634",
"D013274"
] | [
"Association",
"Association",
"Association",
"Association",
"Association",
"Positive_Correlation",
"Positive_Correlation"
] | [
"Novel",
"No",
"No",
"No",
"Novel",
"No",
"Novel"
] |
17035713 | Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy.
Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. Depletion of sulfhydryl (SH) groups has been repor... | Chloroacetaldehyde as a sulfhydryl reagent: the role of critical thiol groups in ifosfamide nephropathy. | Chloroacetaldehyde (CAA) is a metabolite of the alkylating agent ifosfamide (IFO) and putatively responsible for renal damage following anti-tumor therapy with IFO. Depletion of sulfhydryl (SH) groups has been reported from cell culture, animal and clinical studies. In this work the effect of CAA on human proximal tubu... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22",
"23",
"24",
"25",
"26",
"27",
"28",
"29",
"30",
"31",
"32",
"33",
"34",
"35",
"36",
"37",
"38",
"39",
"40",
... | [
"Chloroacetaldehyde",
"sulfhydryl reagent",
"thiol",
"ifosfamide",
"nephropathy",
"Chloroacetaldehyde",
"CAA",
"alkylating agent",
"ifosfamide",
"IFO",
"renal damage",
"tumor",
"IFO",
"sulfhydryl",
"SH",
"CAA",
"human",
"hRPTEC",
"Toxicity",
"CAA",
"LDH",
"trypan blue",
"... | [
0,
24,
65,
81,
92,
105,
125,
153,
170,
182,
218,
246,
265,
283,
295,
399,
406,
454,
480,
492,
544,
557,
589,
614,
660,
672,
741,
767,
785,
797,
820,
839,
850,
864,
877,
899,
926,
991,
1071,
1078,
1111,
1198,
1207,
1253,
1260,
... | [
18,
18,
5,
10,
11,
18,
3,
16,
10,
3,
12,
5,
3,
10,
2,
3,
5,
6,
8,
3,
3,
11,
9,
6,
3,
6,
6,
8,
3,
8,
18,
9,
9,
11,
7,
9,
3,
3,
3,
17,
6,
3,
5,
3,
8,
5,
17,
3,
6,
8,
6,
3,
11,
8
] | [
"C004656",
"D013439",
"D013438",
"D007069",
"D007674",
"C004656",
"C004656",
"D000477",
"D007069",
"D007069",
"D007674",
"D009369",
"D007069",
"D013439",
"D013439",
"C004656",
"9606",
"CVCL_K278",
"D064420",
"C004656",
"D007770",
"D014343",
"836",
"D013438",
"C004656"... | [
"ChemicalEntity",
"ChemicalEntity",
"ChemicalEntity",
"ChemicalEntity",
"DiseaseOrPhenotypicFeature",
"ChemicalEntity",
"ChemicalEntity",
"ChemicalEntity",
"ChemicalEntity",
"ChemicalEntity",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"ChemicalEntity",
"ChemicalEntity",
... | [
"D002945",
"841",
"836",
"C004656",
"C004656",
"C004656",
"C004656",
"C004656",
"C004656",
"D007674",
"D009369"
] | [
"C004656",
"D002945",
"D002945",
"1508",
"841",
"836",
"D009336",
"D013438",
"D007674",
"D007069",
"D007069"
] | [
"Negative_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Negative_Correlation",
"Negative_Correlation",
"Negative_Correlation",
"Positive_Correlation",
"Negative_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Negative_Correlation"
] | [
"Novel",
"No",
"No",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"No",
"No",
"No"
] |
1711760 | Delayed institution of hypertension during focal cerebral ischemia: effect on brain edema.
The effect of induced hypertension instituted after a 2-h delay following middle cerebral artery occlusion (MCAO) on brain edema formation and histochemical injury was studied. Under isoflurane anesthesia, the MCA of 14 spontaneo... | Delayed institution of hypertension during focal cerebral ischemia: effect on brain edema. | The effect of induced hypertension instituted after a 2-h delay following middle cerebral artery occlusion (MCAO) on brain edema formation and histochemical injury was studied. Under isoflurane anesthesia, the MCA of 14 spontaneously hypertensive rats was occluded. In the control group (n = 7), the mean arterial pressu... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22",
"23",
"24",
"25",
"26",
"27",
"28",
"29",
"30",
"31"
] | [
"hypertension",
"cerebral ischemia",
"brain edema",
"hypertension",
"middle cerebral artery occlusion",
"MCAO",
"brain edema",
"isoflurane",
"hypertensive",
"rats",
"hypertensive",
"MCAO",
"MCAO",
"rats",
"ischemia",
"MCAO",
"ischemic",
"neuronal injury",
"2,3,5-triphenyltetrazol... | [
23,
49,
78,
113,
165,
199,
208,
274,
325,
338,
448,
532,
555,
565,
684,
705,
823,
858,
892,
936,
1052,
1107,
1134,
1319,
1405,
1427,
1461,
1485,
1498,
1530,
1560,
1626
] | [
12,
17,
11,
12,
32,
4,
11,
10,
12,
4,
12,
4,
4,
4,
8,
4,
8,
15,
26,
8,
8,
5,
12,
12,
13,
12,
4,
5,
8,
5,
8,
20
] | [
"D006973",
"D002545",
"D001929",
"D006973",
"D020244",
"D020244",
"D001929",
"D007530",
"D006973",
"10116",
"D006973",
"D020244",
"D020244",
"10116",
"D007511",
"D020244",
"D007511",
"D009410",
"C009591",
"D007511",
"D007511",
"D004487",
"D006973",
"D006973",
"D010656... | [
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"ChemicalEntity",
"DiseaseOrPhenotypicFeature",
"OrganismTaxon",
"DiseaseOrPhenotypicF... | [
"D010656"
] | [
"D006973"
] | [
"Positive_Correlation"
] | [
"No"
] |
17391797 | The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population.
BACKGROUND/AIMS: The genetic predisposition on the development of nonalcoholic steatohepatitis (NASH) has been poorly understood. A functional polymorphism Val175Met was ... | The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population. | BACKGROUND/AIMS: The genetic predisposition on the development of nonalcoholic steatohepatitis (NASH) has been poorly understood. A functional polymorphism Val175Met was reported in phosphatidylethanolamine N-methyltransferase (PEMT) that catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine. The ... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22",
"23",
"24",
"25",
"26",
"27",
"28",
"29",
"30",
"31",
"32",
"33",
"34",
"35",
"36"
] | [
"phosphatidylethanolamine N-methyltransferase",
"V175M",
"NASH",
"nonalcoholic steatohepatitis",
"NASH",
"Val175Met",
"phosphatidylethanolamine N-methyltransferase",
"PEMT",
"phosphatidylethanolamine",
"phosphatidylcholine",
"Val175Met",
"PEMT",
"NASH",
"patients",
"NASH",
"Val175Met",... | [
4,
54,
121,
216,
246,
306,
332,
378,
417,
445,
531,
561,
599,
635,
663,
806,
838,
883,
888,
951,
1005,
1010,
1062,
1067,
1135,
1141,
1208,
1259,
1278,
1299,
1372,
1420,
1425,
1442,
1461,
1482,
1514
] | [
44,
5,
4,
28,
4,
9,
44,
4,
24,
19,
9,
4,
4,
8,
4,
9,
4,
4,
8,
9,
4,
8,
4,
8,
5,
8,
9,
4,
9,
4,
4,
4,
8,
5,
9,
4,
4
] | [
"10400",
"rs7946",
"D065626",
"D065626",
"D065626",
"rs7946",
"10400",
"10400",
"D010714",
"D010713",
"rs7946",
"10400",
"D065626",
"9606",
"D065626",
"rs7946",
"10400",
"D065626",
"9606",
"rs7946",
"D065626",
"9606",
"D065626",
"9606",
"D009765",
"9606",
"rs7946"... | [
"GeneOrGeneProduct",
"SequenceVariant",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"SequenceVariant",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"ChemicalEntity",
"ChemicalEntity",
"SequenceVariant",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeatu... | [
"10400",
"D010714",
"rs7946",
"rs7946",
"rs7946"
] | [
"D065626",
"D010713",
"D010713",
"D010714",
"D065626"
] | [
"Association",
"Conversion",
"Association",
"Association",
"Positive_Correlation"
] | [
"Novel",
"No",
"No",
"No",
"Novel"
] |
17495183 | Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study.
We recently showed that long-term weight reduction changes the gene expression profile of adipose tissue in overweight individuals with impaired glucose tolerance (IGT). One of the responding genes was X-chromosomal tenomod... | Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study. | We recently showed that long-term weight reduction changes the gene expression profile of adipose tissue in overweight individuals with impaired glucose tolerance (IGT). One of the responding genes was X-chromosomal tenomodulin (TNMD), a putative angiogenesis inhibitor. Our aim was to study the associations of individu... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22",
"23",
"24",
"25",
"26",
"27",
"28",
"29",
"30",
"31",
"32",
"33",
"34",
"35",
"36",
"37",
"38"
] | [
"Tenomodulin",
"obesity",
"diabetes",
"diabetes",
"overweight",
"impaired glucose tolerance",
"IGT",
"tenomodulin",
"TNMD",
"adiposity",
"glucose",
"type 2 diabetes",
"T2D",
"Diabetes",
"adiposity",
"women",
"rs5966709",
"rs4828037",
"men",
"rs11798018",
"rs2073163",
"rs115... | [
0,
31,
43,
70,
205,
233,
261,
313,
326,
472,
483,
519,
536,
663,
804,
817,
824,
835,
850,
855,
876,
890,
953,
971,
1039,
1083,
1090,
1097,
1125,
1221,
1282,
1317,
1356,
1396,
1435,
1459,
1498,
1505,
1512
] | [
11,
7,
8,
8,
10,
26,
3,
11,
4,
9,
7,
15,
3,
8,
9,
5,
9,
9,
3,
10,
9,
9,
7,
3,
9,
3,
3,
3,
3,
7,
9,
9,
9,
4,
9,
7,
3,
3,
3
] | [
"64102",
"D009765",
"D003920",
"D003920",
"D050177",
"D018149",
"D018149",
"64102",
"64102",
"D009765",
"D005947",
"D003924",
"D003924",
"D003920",
"D009765",
"9606",
"rs5966709",
"rs4828037",
"9606",
"rs11798018",
"rs2073163",
"rs1155794",
"D005947",
"9606",
"rs20731... | [
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"ChemicalEntity",
"Di... | [
"rs1155974",
"rs2073162",
"rs2073162",
"rs1155794",
"D003924",
"D003924",
"rs2073163",
"rs2073163",
"D005947",
"D005947",
"D009765",
"D009765",
"D009765",
"64102",
"64102",
"64102",
"64102"
] | [
"D009765",
"D003924",
"D009765",
"D003924",
"rs1155974",
"D005947",
"D003924",
"D009765",
"rs1155794",
"rs2073163",
"rs11798018",
"rs4828037",
"rs5966709",
"D003924",
"D005947",
"D003920",
"D009765"
] | [
"Association",
"Positive_Correlation",
"Association",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Association",
"Association",
"Association",
"Association",
"Association",
"Association",
"Association",
"Association",
"Association",
... | [
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel"
] |
17595233 | Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease.
BACKGROUND AND AIMS: A number of antibodies against microbial epitopes or self-antigens have been associated with Crohn's disease. The development of antibodies reflects a loss of t... | Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease. | BACKGROUND AND AIMS: A number of antibodies against microbial epitopes or self-antigens have been associated with Crohn's disease. The development of antibodies reflects a loss of tolerance to intestinal bacteria that underlies Crohn's disease, resulting in an exaggerated adaptive immune response to these bacteria. It ... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22",
"23",
"24",
"25",
"26",
"27",
"28",
"29",
"30",
"31",
"32",
"33",
"34",
"35",
"36",
"37",
"38",
"39",
"40",
... | [
"patients",
"inflammatory bowel disease",
"Crohn's disease",
"bacteria",
"Crohn's disease",
"bacteria",
"innate immune receptor",
"nucleotide oligomerisation domain (NOD) 2",
"caspase recruitment domain (CARD) 15",
"NOD1",
"CARD4",
"TUCAN",
"CARDINAL",
"CARD8",
"Toll-like receptor (TLR) ... | [
97,
111,
253,
343,
367,
446,
701,
731,
773,
811,
816,
823,
829,
838,
845,
873,
879,
888,
959,
987,
1043,
1057,
1066,
1087,
1124,
1173,
1417,
1422,
1430,
1436,
1445,
1452,
1457,
1464,
1470,
1476,
1485,
1519,
1535,
1552,
1599,
1617,
1... | [
8,
26,
15,
8,
15,
8,
22,
41,
36,
4,
5,
5,
8,
5,
26,
4,
4,
4,
26,
3,
8,
3,
15,
18,
7,
24,
4,
6,
5,
8,
5,
4,
5,
4,
4,
4,
4,
15,
8,
6,
6,
15,
8,
8,
6,
15,
8,
4,
5,
8,
4,
5,
4,
5,
22,
6,
4,
3
] | [
"9606",
"D015212",
"D003424",
"2",
"D003424",
"2",
"10333,10392,22900,64127,7096,7097,7099",
"64127",
"64127",
"10392",
"10392",
"22900",
"22900",
"22900",
"7099",
"7097",
"7096",
"10333",
"D015212",
"D015212",
"9606",
"D015212",
"D003424",
"D003093",
"D003092",
"49... | [
"OrganismTaxon",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"OrganismTaxon",
"DiseaseOrPhenotypicFeature",
"OrganismTaxon",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"G... | [
"7097",
"7099",
"p|SUB|P|631|H",
"rs4986790",
"64127",
"D003424",
"D003424"
] | [
"D015212",
"D015212",
"D015212",
"D015212",
"D015212",
"64127",
"10392"
] | [
"Association",
"Association",
"Negative_Correlation",
"Negative_Correlation",
"Association",
"Association",
"Association"
] | [
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel"
] |
17683901 | An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia.
Achondroplasia is the most common form of dwarfism and has an incidence of approximately 1/7500. In more than 98% of cases, the disease is associated with a G to A or G to C substitution at nucleotide pos... | An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia. | Achondroplasia is the most common form of dwarfism and has an incidence of approximately 1/7500. In more than 98% of cases, the disease is associated with a G to A or G to C substitution at nucleotide position 1138 (p.G380R) of the fibroblast growth factor receptor 3 (FGFR3) gene. We have developed a sensitive single t... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17"
] | [
"FGFR3",
"G380R",
"achondroplasia",
"Achondroplasia",
"dwarfism",
"G to A or G to C substitution at nucleotide position 1138",
"p.G380R",
"fibroblast growth factor receptor 3",
"FGFR3",
"c.1138G>A",
"c.1138G>C",
"c.1138G>A",
"patients",
"achondroplasia",
"achondroplasia",
"c.1138G>A",
... | [
63,
69,
100,
116,
158,
273,
332,
348,
385,
482,
496,
606,
811,
825,
883,
962,
1127,
1133
] | [
5,
5,
14,
14,
8,
57,
7,
35,
5,
9,
9,
9,
8,
14,
14,
9,
5,
7
] | [
"2261",
"rs28931614",
"D000130",
"D000130",
"D004392",
"rs28931614",
"rs28931614",
"2261",
"2261",
"rs28931614",
"rs28931614",
"rs28931614",
"9606",
"D000130",
"D000130",
"rs28931614",
"2261",
"rs28931614"
] | [
"GeneOrGeneProduct",
"SequenceVariant",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"SequenceVariant",
"SequenceVariant",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"SequenceVariant",
"SequenceVariant",
"SequenceVariant",
"OrganismTaxon",
"Disea... | [
"2261",
"rs28931614"
] | [
"D000130",
"D000130"
] | [
"Association",
"Positive_Correlation"
] | [
"No",
"No"
] |
18166824 | Genetic investigation of four meiotic genes in women with premature ovarian failure.
OBJECTIVE: The goal of this study was to determine whether mutations of meiotic genes, such as disrupted meiotic cDNA (DMC1), MutS homolog (MSH4), MSH5, and S. cerevisiae homolog (SPO11), were associated with premature ovarian failure ... | Genetic investigation of four meiotic genes in women with premature ovarian failure. | OBJECTIVE: The goal of this study was to determine whether mutations of meiotic genes, such as disrupted meiotic cDNA (DMC1), MutS homolog (MSH4), MSH5, and S. cerevisiae homolog (SPO11), were associated with premature ovarian failure (POF). DESIGN: Case-control study. METHODS: Blood sampling, karyotype, hormonal dosag... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22",
"23",
"24",
"25",
"26",
"27",
"28",
"29",
"30",
"31",
"32",
"33"
] | [
"women",
"premature ovarian failure",
"DMC1",
"MutS",
"MSH4",
"MSH5",
"S. cerevisiae",
"SPO11",
"premature ovarian failure",
"POF",
"patients",
"women",
"POF",
"women",
"cytosine residue with thymidine",
"MSH5",
"women",
"POF",
"(proline) with a polar amino acid (serine) at posit... | [
47,
58,
204,
211,
225,
232,
242,
265,
294,
321,
464,
578,
589,
608,
694,
739,
772,
786,
891,
950,
976,
995,
1009,
1058,
1062,
1142,
1224,
1261,
1289,
1334,
1393,
1523,
1532,
1574
] | [
5,
25,
4,
4,
4,
4,
13,
5,
25,
3,
8,
5,
3,
5,
31,
4,
5,
3,
57,
4,
5,
8,
3,
3,
7,
4,
5,
11,
4,
8,
4,
4,
4,
3
] | [
"9606",
"D016649",
"11144",
"850545",
"4438",
"4439",
"4932",
"856364",
"D016649",
"D016649",
"9606",
"9606",
"D016649",
"9606",
"rs2075789",
"4439",
"9606",
"D016649",
"rs2075789",
"rs2075789",
"9606",
"9606",
"D016649",
"D016649",
"9606",
"11144",
"rs2227914",
... | [
"OrganismTaxon",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"OrganismTaxon",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"OrganismTaxon",
"OrganismTaxon",
"DiseaseOrPhenotypicFeature",... | [
"11144",
"11144",
"4439",
"D007247",
"D007247",
"D007247",
"rs2227914",
"D016649"
] | [
"D007247",
"D016649",
"D016649",
"4439",
"rs2227914",
"rs2075789",
"D016649",
"rs2075789"
] | [
"Association",
"Association",
"Association",
"Association",
"Association",
"Association",
"Association",
"Association"
] | [
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel"
] |
18408250 | A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population.
OBJECTIVES: Interferon regulatory factor 5 (IRF5) is a member of the IRF family of transcription factors, which regulate the production of proinflammatory cytokines. Polymor... | A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population. | OBJECTIVES: Interferon regulatory factor 5 (IRF5) is a member of the IRF family of transcription factors, which regulate the production of proinflammatory cytokines. Polymorphisms in the IRF5 gene have been associated with susceptibility to systemic lupus erythaematosus (SLE) in Caucasian and Asian populations, but the... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22",
"23",
"24",
"25",
"26",
"27",
"28",
"29",
"30",
"31"
] | [
"IRF5",
"rheumatoid arthritis",
"Interferon regulatory factor 5",
"IRF5",
"IRF",
"proinflammatory cytokines",
"IRF5",
"systemic lupus erythaematosus",
"SLE",
"autoimmune diseases",
"IRF5",
"rheumatoid arthritis",
"RA",
"IRF5",
"patients",
"RA",
"patients",
"RA",
"human",
"leuko... | [
40,
98,
159,
191,
216,
286,
334,
388,
419,
491,
569,
595,
617,
757,
856,
870,
908,
922,
991,
997,
1139,
1162,
1291,
1331,
1387,
1393,
1483,
1626,
1649,
1759,
1813,
1881
] | [
4,
20,
30,
4,
3,
25,
4,
29,
3,
19,
4,
20,
2,
4,
8,
2,
8,
2,
5,
28,
8,
2,
8,
8,
2,
8,
8,
2,
8,
4,
2,
8
] | [
"3663",
"D001172",
"3663",
"3663",
"3663",
"3553",
"3663",
"D008180",
"D008180",
"D001327",
"3663",
"D001172",
"D001172",
"3663",
"9606",
"D001172",
"9606",
"D001172",
"9606",
"3123",
"rs729302",
"D001172",
"9606",
"rs729302",
"D001172",
"9606",
"9606",
"D001172... | [
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature... | [
"3663",
"3663",
"rs729302"
] | [
"D008180",
"D001172",
"D001172"
] | [
"Association",
"Association",
"Positive_Correlation"
] | [
"No",
"Novel",
"Novel"
] |
18439317 | Association between promoter -1607 polymorphism of MMP1 and lumbar disc disease in Southern Chinese.
BACKGROUND: Matrix metalloproteinases (MMPs) are involved in the degradation of the extracellular matrix of the intervertebral disc. A SNP for guanine insertion/deletion (G/D), the -1607 promoter polymorphism, of the MM... | Association between promoter -1607 polymorphism of MMP1 and lumbar disc disease in Southern Chinese. | BACKGROUND: Matrix metalloproteinases (MMPs) are involved in the degradation of the extracellular matrix of the intervertebral disc. A SNP for guanine insertion/deletion (G/D), the -1607 promoter polymorphism, of the MMP1 gene was found significantly affecting promoter activity and corresponding transcription level. He... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14"
] | [
"MMP1",
"lumbar disc disease",
"Matrix metalloproteinases",
"MMPs",
"guanine insertion/deletion (G/D), the -1607 promoter polymorphism",
"MMP1",
"DDD",
"DDD",
"MMP1",
"DDD",
"DDD",
"DDD",
"D allele for the -1607",
"MMP1",
"DDD"
] | [
51,
60,
113,
140,
244,
318,
471,
573,
969,
978,
1060,
1220,
1706,
1754,
1807
] | [
4,
19,
25,
4,
65,
4,
3,
3,
4,
3,
3,
3,
22,
4,
3
] | [
"4312",
"C535531",
"4312",
"4312",
"c|DEL|-1607|G",
"4312",
"D055959",
"D055959",
"4312",
"D055959",
"D055959",
"D055959",
"c|Allele|D|-1607",
"4312",
"D055959"
] | [
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"SequenceVariant",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypic... | [
"c|DEL|-1607|G",
"D055959",
"c|Allele|D|-1607",
"4312",
"C535531"
] | [
"C535531",
"c|DEL|-1607|G",
"D055959",
"D055959",
"4312"
] | [
"Positive_Correlation",
"Association",
"Positive_Correlation",
"Association",
"Association"
] | [
"Novel",
"Novel",
"Novel",
"Novel",
"Novel"
] |
18657397 | Detailed spectral profile analysis of penicillin-induced epileptiform activity in anesthetized rats.
Penicillin model is a widely used experimental model for epilepsy research. In the present study we aimed to portray a detailed spectral analysis of penicillin-induced epileptiform activity in comparison with basal brai... | Detailed spectral profile analysis of penicillin-induced epileptiform activity in anesthetized rats. | Penicillin model is a widely used experimental model for epilepsy research. In the present study we aimed to portray a detailed spectral analysis of penicillin-induced epileptiform activity in comparison with basal brain activity in anesthetized Wistar rats. Male Wistar rats were anesthetized with i.p. urethane and con... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16"
] | [
"penicillin",
"epileptiform activity",
"rats",
"Penicillin",
"epilepsy",
"penicillin",
"epileptiform activity",
"rats",
"rats",
"urethane",
"epileptic",
"penicillin-G potassium",
"penicillin",
"epileptiform activity",
"epileptiform activity",
"epileptiform activity",
"epilepsies"
] | [
38,
57,
95,
101,
158,
250,
269,
354,
372,
405,
510,
566,
714,
733,
1138,
1296,
1566
] | [
10,
21,
4,
10,
8,
10,
21,
4,
4,
8,
9,
22,
10,
21,
21,
21,
10
] | [
"D010406",
"D004827",
"10116",
"D010406",
"D004827",
"D010406",
"D004827",
"10116",
"10116",
"D014520",
"D004827",
"D010400",
"D010406",
"D004827",
"D004827",
"D004827",
"D004827"
] | [
"ChemicalEntity",
"DiseaseOrPhenotypicFeature",
"OrganismTaxon",
"ChemicalEntity",
"DiseaseOrPhenotypicFeature",
"ChemicalEntity",
"DiseaseOrPhenotypicFeature",
"OrganismTaxon",
"OrganismTaxon",
"ChemicalEntity",
"DiseaseOrPhenotypicFeature",
"ChemicalEntity",
"ChemicalEntity",
"DiseaseOrP... | [
"D004827",
"D010406"
] | [
"D010400",
"D004827"
] | [
"Positive_Correlation",
"Positive_Correlation"
] | [
"No",
"No"
] |
18681856 | Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene.
OBJECTIVE: To describe clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin re... | Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene. | OBJECTIVE: To describe clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin receptor (TSHR) gene. PATIENTS: Three affected individuals from the same family (a father and his two children) were studied. Clinical and imaging ... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18"
] | [
"non-autoimmune hyperthyroidism",
"p.M453T",
"thyrotropin receptor",
"non-autoimmune hyperthyroidism",
"NAH",
"thyrotropin receptor",
"TSHR",
"PATIENTS",
"TSHR",
"T to C",
"TSHR",
"c.1358T-->C",
"methionine (ATG) by threonine (ACG) at codon 453",
"p.M453T",
"hyperthyroidism",
"ventricu... | [
31,
102,
118,
220,
252,
306,
328,
340,
638,
756,
792,
803,
849,
899,
1049,
1066,
1250,
1404,
1433
] | [
30,
7,
20,
30,
3,
20,
4,
8,
4,
6,
4,
11,
48,
7,
15,
16,
16,
3,
4
] | [
"C563786",
"rs121908864",
"7253",
"C563786",
"C563786",
"7253",
"7253",
"9606",
"7253",
"rs121908864",
"7253",
"rs121908864",
"rs121908864",
"rs121908864",
"D006980",
"D006849",
"D006849",
"C563786",
"7253"
] | [
"DiseaseOrPhenotypicFeature",
"SequenceVariant",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"OrganismTaxon",
"GeneOrGeneProduct",
"SequenceVariant",
"GeneOrGeneProduct",
"SequenceVariant",
"SequenceVariant",
"S... | [
"D006849",
"D006980",
"7253",
"7253",
"C563786",
"C563786"
] | [
"rs121908864",
"rs121908864",
"D006849",
"D006980",
"7253",
"rs121908864"
] | [
"Positive_Correlation",
"Positive_Correlation",
"Association",
"Association",
"Association",
"Positive_Correlation"
] | [
"Novel",
"Novel",
"No",
"No",
"No",
"Novel"
] |
19067809 | Hemodynamic parameters and heart rate variability during a tilt test in relation to gene polymorphism of renin-angiotensin and serotonin system.
PURPOSE: The aim of the study was to evaluate the renin-angiotensin system and serotonin transporter gene polymorphisms in relation to hemodynamic parameters and heart rate va... | Hemodynamic parameters and heart rate variability during a tilt test in relation to gene polymorphism of renin-angiotensin and serotonin system. | PURPOSE: The aim of the study was to evaluate the renin-angiotensin system and serotonin transporter gene polymorphisms in relation to hemodynamic parameters and heart rate variability during a head-up tilt test (HUT) in patients with vasovagal syncope. METHODS: DNA was collected from 191 patients (mean age 44+/-18 yea... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22",
"23",
"24",
"25"
] | [
"renin",
"angiotensin",
"serotonin",
"renin",
"angiotensin",
"serotonin transporter",
"patients",
"vasovagal syncope",
"patients",
"men",
"women",
"angiotensin-converting enzyme",
"ACE",
"angiotensinogen",
"M 235",
"angiotensin II receptor type 1",
"ATR1",
"A 11666C",
"serotonin ... | [
105,
111,
127,
195,
201,
224,
366,
380,
435,
472,
481,
554,
621,
627,
662,
670,
702,
722,
753,
781,
1023,
1531,
1636,
1664,
1697,
1791
] | [
5,
11,
9,
5,
11,
21,
8,
17,
8,
3,
5,
29,
3,
15,
5,
30,
4,
8,
21,
7,
7,
7,
7,
4,
11,
17
] | [
"5972",
"183",
"D012701",
"5972",
"183",
"6532",
"9606",
"D019462",
"9606",
"9606",
"9606",
"1636",
"1636",
"183",
"p|Allele|M|235",
"185",
"185",
"rs5186",
"6532",
"6532",
"rs5186",
"D013575",
"rs5186",
"185",
"D007022",
"D019462"
] | [
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"ChemicalEntity",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"OrganismTaxon",
"DiseaseOrPhenotypicFeature",
"OrganismTaxon",
"OrganismTaxon",
"OrganismTaxon",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"Seq... | [
"185",
"185",
"D013575",
"D013575",
"rs5186",
"rs5186"
] | [
"D019462",
"D007022",
"185",
"rs5186",
"D019462",
"D007022"
] | [
"Association",
"Association",
"Association",
"Association",
"Positive_Correlation",
"Association"
] | [
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel"
] |
19508969 | Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identifi... | Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). | BACKGROUND: Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults. Mutations in nine genes (NPHP1-9) have been identified. NPHP can be associated with retinal degeneration (Senior-Loken syndrome), brainstem and cerebella... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22",
"23",
"24",
"25",
"26",
"27",
"28",
"29",
"30",
"31",
"32",
"33",
"34",
"35",
"36",
"37",
"38",
"39",
"40",
... | [
"meckelin",
"MKS3",
"TMEM67",
"nephronophthisis with liver fibrosis",
"NPHP11",
"Nephronophthisis",
"NPHP",
"cystic kidney disease",
"chronic renal failure",
"NPHP1-9",
"NPHP",
"retinal degeneration",
"Senior-Loken syndrome",
"cerebellar anomalies",
"Joubert syndrome",
"liver fibrosis"... | [
25,
35,
40,
54,
92,
113,
131,
155,
216,
293,
324,
352,
374,
412,
434,
456,
528,
553,
667,
915,
920,
980,
994,
1014,
1076,
1085,
1094,
1107,
1146,
1151,
1177,
1217,
1333,
1347,
1367,
1537,
1544,
1596,
1601,
1615,
1629,
1689,
1743,
... | [
8,
4,
6,
36,
6,
16,
4,
21,
21,
7,
4,
20,
21,
20,
16,
14,
8,
14,
8,
4,
6,
8,
4,
14,
7,
7,
7,
7,
4,
6,
35,
30,
8,
4,
14,
3,
4,
4,
6,
8,
4,
8,
14,
4,
6,
24,
6,
4,
8,
4,
4,
3,
17
] | [
"91147",
"91147",
"91147",
"OMIM:613550",
"OMIM:613550",
"C537699",
"C537699",
"D052177",
"D007676",
"23322,261734,27031,27130,284086,4867,80184,84662,9657",
"C537699",
"D012162",
"C537580",
"D002526",
"C536293",
"D008103",
"9606",
"D008103",
"9606",
"91147",
"91147",
"9606... | [
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
... | [
"C537689",
"C537689",
"C537689",
"C536132",
"C536132",
"C536132",
"rs267607116",
"rs267607116",
"rs267607116",
"rs267607116",
"rs201893408",
"rs201893408",
"rs201893408",
"rs201893408",
"rs267607117",
"rs267607117",
"rs267607117",
"rs267607117",
"OMIM:613550",
"OMIM:613550",
... | [
"rs267607116",
"rs201893408",
"rs267607117",
"rs267607116",
"rs201893408",
"rs267607117",
"C537699",
"C536133",
"C536293",
"D008103",
"C537699",
"C536133",
"C536293",
"D008103",
"C537699",
"C536133",
"C536293",
"D008103",
"rs267607116",
"rs201893408",
"rs267607117",
"C53768... | [
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Pos... | [
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"No",
"No",
"Novel",
"No",
"No",
"Novel",
"Novel"
] |
19521089 | Serotonin transporter gene polymorphic element 5-HTTLPR increases the risk of sporadic Parkinson's disease in Italy.
Parkinson's disease (PD) is a neurodegenerative disorder causing muscular rigidity, resting tremor and bradykinesia. We conducted an association study assessing how PD risk in Italy was influenced by the... | Serotonin transporter gene polymorphic element 5-HTTLPR increases the risk of sporadic Parkinson's disease in Italy. | Parkinson's disease (PD) is a neurodegenerative disorder causing muscular rigidity, resting tremor and bradykinesia. We conducted an association study assessing how PD risk in Italy was influenced by the serotonin transporter gene (SLC6A4) polymorphic region 5-HTTLPR, consisting of an insertion/deletion (long allele-L/... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22",
"23",
"24",
"25",
"26",
"27"
] | [
"Serotonin transporter",
"5-HTTLPR",
"Parkinson's disease",
"Parkinson's disease",
"PD",
"neurodegenerative disorder",
"muscular rigidity",
"resting tremor",
"bradykinesia",
"PD",
"serotonin transporter",
"SLC6A4",
"5-HTTLPR",
"insertion/deletion (long allele-L/short allele-S) of 43 bp",
... | [
0,
47,
87,
117,
138,
147,
182,
201,
220,
282,
321,
349,
376,
403,
469,
497,
544,
552,
621,
667,
701,
771,
797,
806,
845,
876,
916,
963
] | [
21,
8,
19,
19,
2,
26,
17,
14,
12,
2,
21,
6,
8,
58,
6,
6,
7,
5,
2,
8,
2,
7,
8,
7,
2,
8,
6,
2
] | [
"6532",
"6532",
"D010300",
"D010300",
"D010300",
"D019636",
"D009127",
"D014202",
"D018476",
"D010300",
"6532",
"6532",
"6532",
"c|INDEL||43",
"6532",
"6532",
"rs25531",
"rs25531",
"D010300",
"6532",
"D010300",
"rs25531",
"6532",
"rs25531",
"D010300",
"6532",
"653... | [
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"GeneOrGenePro... | [
"D010300",
"6532"
] | [
"c|INDEL||43",
"D010300"
] | [
"Positive_Correlation",
"Association"
] | [
"No",
"Novel"
] |
19728177 | Prolonged hypothermia as a bridge to recovery for cerebral edema and intracranial hypertension associated with fulminant hepatic failure.
BACKGROUND: To review evidence-based treatment options in patients with cerebral edema complicating fulminant hepatic failure (FHF) and discuss the potential applications of hypother... | Prolonged hypothermia as a bridge to recovery for cerebral edema and intracranial hypertension associated with fulminant hepatic failure. | BACKGROUND: To review evidence-based treatment options in patients with cerebral edema complicating fulminant hepatic failure (FHF) and discuss the potential applications of hypothermia. METHOD: Case-based observations from a medical intensive care unit (MICU) in a tertiary care facility in a 27-year-old female with FH... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22",
"23",
"24",
"25",
"26",
"27",
"28",
"29",
"30",
"31",
"32",
"33"
] | [
"hypothermia",
"cerebral edema",
"intracranial hypertension",
"fulminant hepatic failure",
"patients",
"cerebral edema",
"fulminant hepatic failure",
"FHF",
"hypothermia",
"FHF",
"acetaminophen",
"cerebral edema",
"patient",
"toxicity",
"acetaminophen",
"patient",
"depressed",
"FHF... | [
10,
50,
69,
111,
196,
210,
238,
265,
312,
456,
465,
493,
522,
600,
614,
672,
684,
782,
791,
809,
829,
876,
917,
1035,
1094,
1124,
1143,
1264,
1278,
1286,
1306,
1352,
1486,
1501
] | [
11,
14,
25,
25,
8,
14,
25,
3,
11,
3,
13,
14,
7,
8,
13,
7,
9,
3,
13,
14,
7,
16,
9,
11,
7,
14,
25,
8,
3,
14,
13,
11,
11,
8
] | [
"D007036",
"D001929",
"D019586",
"D017114",
"9606",
"D001929",
"D017114",
"D017114",
"D007036",
"D017114",
"D000082",
"D001929",
"9606",
"D064420",
"D000082",
"9606",
"D003866",
"D017114",
"D000082",
"D001929",
"9606",
"D006985",
"D010243",
"D007036",
"9606",
"D0019... | [
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"OrganismTaxon",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenotypicFeature",
"Chemical... | [
"D000082",
"D000082",
"D000082"
] | [
"D003866",
"D017114",
"D001929"
] | [
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation"
] | [
"No",
"No",
"No"
] |
19881468 | hOGG1 Ser326Cys polymorphism and risk of lung cancer by histological type.
Human 8-oxoguanine DNA glycosylase 1 (hOGG1) has a major role in the repair of 8-hydroxyguanine, a major promutagenic DNA lesion. The genetic polymorphism rs1052133, which leads to substitution of the amino acid at codon 326 from Ser to Cys, sho... | hOGG1 Ser326Cys polymorphism and risk of lung cancer by histological type. | Human 8-oxoguanine DNA glycosylase 1 (hOGG1) has a major role in the repair of 8-hydroxyguanine, a major promutagenic DNA lesion. The genetic polymorphism rs1052133, which leads to substitution of the amino acid at codon 326 from Ser to Cys, shows functional differences, namely a decrease in enzyme activity in hOGG1-Cy... | [
"0",
"1",
"2",
"3",
"4",
"5",
"6",
"7",
"8",
"9",
"10",
"11",
"12",
"13",
"14",
"15",
"16",
"17",
"18",
"19",
"20",
"21",
"22"
] | [
"hOGG1",
"Ser326Cys",
"lung cancer",
"Human",
"8-oxoguanine DNA glycosylase 1",
"hOGG1",
"8-hydroxyguanine",
"rs1052133",
"326 from Ser to Cys",
"hOGG1",
"Cys326",
"rs1052133",
"lung cancer",
"lung cancer",
"lung cancer",
"cancer",
"lung cancer",
"small-cell carcinoma",
"adenocar... | [
0,
6,
41,
75,
81,
113,
154,
230,
296,
387,
393,
468,
482,
538,
652,
717,
855,
1068,
1161,
1317,
1386,
1453,
1490
] | [
5,
9,
11,
5,
30,
5,
16,
9,
19,
5,
6,
9,
11,
11,
11,
6,
11,
20,
14,
14,
37,
9,
22
] | [
"4968",
"rs1052133",
"D008175",
"9606",
"4968",
"4968",
"C024829",
"rs1052133",
"rs1052133",
"4968",
"rs1052133",
"rs1052133",
"D008175",
"D008175",
"D008175",
"D009369",
"D008175",
"D018288",
"D000230",
"D000230",
"D002289,D055752",
"rs1052133",
"D000077192"
] | [
"GeneOrGeneProduct",
"SequenceVariant",
"DiseaseOrPhenotypicFeature",
"OrganismTaxon",
"GeneOrGeneProduct",
"GeneOrGeneProduct",
"ChemicalEntity",
"SequenceVariant",
"SequenceVariant",
"GeneOrGeneProduct",
"SequenceVariant",
"SequenceVariant",
"DiseaseOrPhenotypicFeature",
"DiseaseOrPhenot... | [
"D055752",
"D002289",
"D000230",
"D018288",
"C024829",
"D000077192",
"4968",
"4968",
"4968",
"4968",
"4968",
"4968",
"D008175"
] | [
"rs1052133",
"rs1052133",
"rs1052133",
"rs1052133",
"4968",
"rs1052133",
"D055752",
"D002289",
"D000230",
"D018288",
"D000077192",
"D008175",
"rs1052133"
] | [
"Association",
"Association",
"Positive_Correlation",
"Positive_Correlation",
"Association",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Positive_Correlation",
"Association",
"Association",
"Positive_Correlation"
] | [
"Novel",
"Novel",
"Novel",
"Novel",
"No",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel",
"Novel"
] |
End of preview. Expand in Data Studio
README.md exists but content is empty.
- Downloads last month
- 44