pmid stringlengths 7 8 | title stringlengths 29 245 | abstract stringlengths 1 2.89k | revised_title stringlengths 29 251 | revised_abstract stringlengths 1 2.97k | all_entity_list listlengths 2 58 | head_gene_entity dict | tail_diease_entity dict | label stringclasses 2
values |
|---|---|---|---|---|---|---|---|---|
11739440 | Insulin gene variable number of tandem repeat genotype and the low birth weight, precocious pubarche, and hyperinsulinism sequence. | Low birth weight associations with hyperinsulinemia and other adulthood disease risk factors have been described in several cohorts, including girls who present with precocious pubarche (pubic hair <8 yr). We hypothesized that these associations might be influenced by the insulin gene (INS) variable number of tandem r... | /"Insulin"/ gene variable number of tandem repeat genotype and the low birth weight, /"precocious pubarche"/, and hyperinsulinism sequence. | Low birth weight associations with hyperinsulinemia and other adulthood disease risk factors have been described in several cohorts, including girls who present with /"precocious pubarche"/ (pubic hair <8 yr). We hypothesized that these associations might be influenced by the /"insulin"/ gene (INS) variable number of ... | [
{
"begin_idx": "81",
"end_idx": "100",
"entity_id": "C567552",
"entity_type": "Disease",
"text_name": "precocious pubarche"
},
{
"begin_idx": "298",
"end_idx": "317",
"entity_id": "C567552",
"entity_type": "Disease",
"text_name": "precocious pubarche"
},
{
"begin_... | {
"begin_idx": "405",
"end_idx": "412",
"entity_id": "3630",
"entity_type": "Gene",
"text_name": "insulin"
} | {
"begin_idx": "1049",
"end_idx": "1068",
"entity_id": "C567552",
"entity_type": "Disease",
"text_name": "precocious pubarche"
} | No |
11746272 | Association of codon 72 polymorphism of p53 with lower prostate cancer risk. | BACKGROUND: A common germline polymorphism of p53 produces a protein with an Arg to Pro change at codon 72. This Pro variant has altered biochemical properties suggesting altered cancer susceptibility. METHODS: A case control study with 115 men with prostate cancer and 181 community control male subjects was conducted... | Association of codon 72 polymorphism of /"p53"/ with /"lower prostate cancer"/ risk. | BACKGROUND: A common germline polymorphism of /"p53"/ produces a protein with an Arg to Pro change at codon 72. This Pro variant has altered biochemical properties suggesting altered cancer susceptibility. METHODS: A case control study with 115 men with /"prostate cancer"/ and 181 community control male subjects was c... | [
{
"begin_idx": "256",
"end_idx": "262",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "cancer"
},
{
"begin_idx": "430",
"end_idx": "436",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "cancer"
},
{
"begin_idx": "49",
"end_idx"... | {
"begin_idx": "40",
"end_idx": "43",
"entity_id": "7157",
"entity_type": "Gene",
"text_name": "p53"
} | {
"begin_idx": "49",
"end_idx": "70",
"entity_id": "D011471",
"entity_type": "Disease",
"text_name": "lower prostate cancer"
} | Yes |
11746272 | Association of codon 72 polymorphism of p53 with lower prostate cancer risk. | BACKGROUND: A common germline polymorphism of p53 produces a protein with an Arg to Pro change at codon 72. This Pro variant has altered biochemical properties suggesting altered cancer susceptibility. METHODS: A case control study with 115 men with prostate cancer and 181 community control male subjects was conducted... | Association of codon 72 polymorphism of /"p53"/ with lower prostate cancer risk. | BACKGROUND: A common germline polymorphism of /"p53"/ produces a protein with an Arg to Pro change at codon 72. This Pro variant has altered biochemical properties suggesting altered /"cancer"/ susceptibility. METHODS: A case control study with 115 men with prostate cancer and 181 community control male subjects was c... | [
{
"begin_idx": "256",
"end_idx": "262",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "cancer"
},
{
"begin_idx": "430",
"end_idx": "436",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "cancer"
},
{
"begin_idx": "49",
"end_idx"... | {
"begin_idx": "40",
"end_idx": "43",
"entity_id": "7157",
"entity_type": "Gene",
"text_name": "p53"
} | {
"begin_idx": "430",
"end_idx": "436",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "cancer"
} | No |
11750770 | Temporal concordance of cocaine effects on mood states and neuroendocrine hormones. | Cocaine stimulates the release of adrenocorticotropin hormone (ACTH) and cortisol in both clinical and preclinical studies, but the temporal sequence of cocaine-induced changes in other hormones and affective states is unclear. The purpose of this study was to analyze the pattern and temporal concordance of cocaine-in... | Temporal concordance of cocaine effects on mood states and neuroendocrine hormones. | Cocaine stimulates the release of /"adrenocorticotropin"/ hormone (ACTH) and cortisol in both clinical and preclinical studies, but the temporal sequence of cocaine-induced changes in other hormones and affective states is unclear. The purpose of this study was to analyze the pattern and temporal concordance of cocain... | [
{
"begin_idx": "610",
"end_idx": "623",
"entity_id": "D019970",
"entity_type": "Disease",
"text_name": "cocaine abuse"
},
{
"begin_idx": "118",
"end_idx": "137",
"entity_id": "5443",
"entity_type": "Gene",
"text_name": "adrenocorticotropin"
}
] | {
"begin_idx": "118",
"end_idx": "137",
"entity_id": "5443",
"entity_type": "Gene",
"text_name": "adrenocorticotropin"
} | {
"begin_idx": "610",
"end_idx": "623",
"entity_id": "D019970",
"entity_type": "Disease",
"text_name": "cocaine abuse"
} | Yes |
11756990 | Associations between human leukocyte antigens and nonresponsiveness to influenza vaccine. | Influenza remains a major cause of morbidity and mortality, particularly in at-risk groups where vaccination reduces complications of infection but is not universally protective. In order to determine whether human leukocyte antigen (HLA) class II polymorphisms modulate anti-influenza antibody responses to vaccination... | Associations between human leukocyte antigens and nonresponsiveness to /"influenza"/ vaccine. | Influenza remains a major cause of morbidity and mortality, particularly in at-risk groups where vaccination reduces complications of infection but is not universally protective. In order to determine whether human leukocyte antigen (HLA) class II polymorphisms modulate anti-/"influenza"/ antibody responses to vaccina... | [
{
"begin_idx": "224",
"end_idx": "233",
"entity_id": "D007239",
"entity_type": "Disease",
"text_name": "infection"
},
{
"begin_idx": "71",
"end_idx": "80",
"entity_id": "D007251",
"entity_type": "Disease",
"text_name": "influenza"
},
{
"begin_idx": "366",
"end... | {
"begin_idx": "866",
"end_idx": "874",
"entity_id": "3123",
"entity_type": "Gene",
"text_name": "HLA-DRB1"
} | {
"begin_idx": "71",
"end_idx": "80",
"entity_id": "D007251",
"entity_type": "Disease",
"text_name": "influenza"
} | Yes |
11756990 | Associations between human leukocyte antigens and nonresponsiveness to influenza vaccine. | Influenza remains a major cause of morbidity and mortality, particularly in at-risk groups where vaccination reduces complications of infection but is not universally protective. In order to determine whether human leukocyte antigen (HLA) class II polymorphisms modulate anti-influenza antibody responses to vaccination... | Associations between human leukocyte antigens and nonresponsiveness to /"influenza"/ vaccine. | Influenza remains a major cause of morbidity and mortality, particularly in at-risk groups where vaccination reduces complications of infection but is not universally protective. In order to determine whether human leukocyte antigen (HLA) class II polymorphisms modulate anti-/"influenza"/ antibody responses to vaccina... | [
{
"begin_idx": "224",
"end_idx": "233",
"entity_id": "D007239",
"entity_type": "Disease",
"text_name": "infection"
},
{
"begin_idx": "71",
"end_idx": "80",
"entity_id": "D007251",
"entity_type": "Disease",
"text_name": "influenza"
},
{
"begin_idx": "366",
"end... | {
"begin_idx": "961",
"end_idx": "969",
"entity_id": "3119",
"entity_type": "Gene",
"text_name": "HLA-DQB1"
} | {
"begin_idx": "71",
"end_idx": "80",
"entity_id": "D007251",
"entity_type": "Disease",
"text_name": "influenza"
} | Yes |
11756990 | Associations between human leukocyte antigens and nonresponsiveness to influenza vaccine. | Influenza remains a major cause of morbidity and mortality, particularly in at-risk groups where vaccination reduces complications of infection but is not universally protective. In order to determine whether human leukocyte antigen (HLA) class II polymorphisms modulate anti-influenza antibody responses to vaccination... | Associations between human leukocyte antigens and nonresponsiveness to influenza vaccine. | Influenza remains a major cause of morbidity and mortality, particularly in at-risk groups where vaccination reduces complications of /"infection"/ but is not universally protective. In order to determine whether human leukocyte antigen (HLA) class II polymorphisms modulate anti-influenza antibody responses to vaccina... | [
{
"begin_idx": "224",
"end_idx": "233",
"entity_id": "D007239",
"entity_type": "Disease",
"text_name": "infection"
},
{
"begin_idx": "71",
"end_idx": "80",
"entity_id": "D007251",
"entity_type": "Disease",
"text_name": "influenza"
},
{
"begin_idx": "366",
"end... | {
"begin_idx": "866",
"end_idx": "874",
"entity_id": "3123",
"entity_type": "Gene",
"text_name": "HLA-DRB1"
} | {
"begin_idx": "224",
"end_idx": "233",
"entity_id": "D007239",
"entity_type": "Disease",
"text_name": "infection"
} | No |
11756990 | Associations between human leukocyte antigens and nonresponsiveness to influenza vaccine. | Influenza remains a major cause of morbidity and mortality, particularly in at-risk groups where vaccination reduces complications of infection but is not universally protective. In order to determine whether human leukocyte antigen (HLA) class II polymorphisms modulate anti-influenza antibody responses to vaccination... | Associations between human leukocyte antigens and nonresponsiveness to influenza vaccine. | Influenza remains a major cause of morbidity and mortality, particularly in at-risk groups where vaccination reduces complications of /"infection"/ but is not universally protective. In order to determine whether human leukocyte antigen (HLA) class II polymorphisms modulate anti-influenza antibody responses to vaccina... | [
{
"begin_idx": "224",
"end_idx": "233",
"entity_id": "D007239",
"entity_type": "Disease",
"text_name": "infection"
},
{
"begin_idx": "71",
"end_idx": "80",
"entity_id": "D007251",
"entity_type": "Disease",
"text_name": "influenza"
},
{
"begin_idx": "366",
"end... | {
"begin_idx": "961",
"end_idx": "969",
"entity_id": "3119",
"entity_type": "Gene",
"text_name": "HLA-DQB1"
} | {
"begin_idx": "224",
"end_idx": "233",
"entity_id": "D007239",
"entity_type": "Disease",
"text_name": "infection"
} | No |
11762699 | A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia. | Missense mutations in the calcium-sensing receptor (CaSR) gene have previously been identified in patients with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism. We identified a newborn with hypercalcemia in our hospital by mass screening. The family members were studied, and we found... | A novel mutation in Ca2+-sensing receptor gene in /"familial hypocalciuric hypercalcemia"/. | Missense mutations in the /"calcium-sensing receptor"/ (/"CaSR"/) gene have previously been identified in patients with /"familial hypocalciuric hypercalcemia"/ (/"FHH"/) and neonatal severe hyperparathyroidism. We identified a newborn with hypercalcemia in our hospital by mass screening. The family members were studi... | [
{
"begin_idx": "50",
"end_idx": "86",
"entity_id": "C537145",
"entity_type": "Disease",
"text_name": "familial hypocalciuric hypercalcemia"
},
{
"begin_idx": "200",
"end_idx": "236",
"entity_id": "C537145",
"entity_type": "Disease",
"text_name": "familial hypocalciuric hy... | {
"begin_idx": "114",
"end_idx": "138",
"entity_id": "846",
"entity_type": "Gene",
"text_name": "calcium-sensing receptor"
} | {
"begin_idx": "50",
"end_idx": "86",
"entity_id": "C537145",
"entity_type": "Disease",
"text_name": "familial hypocalciuric hypercalcemia"
} | Yes |
11762699 | A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia. | Missense mutations in the calcium-sensing receptor (CaSR) gene have previously been identified in patients with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism. We identified a newborn with hypercalcemia in our hospital by mass screening. The family members were studied, and we found... | A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia. | Missense mutations in the /"calcium-sensing receptor"/ (/"CaSR"/) gene have previously been identified in patients with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism. We identified a newborn with /"hypercalcemia"/ in our hospital by mass screening. The family members were studied, ... | [
{
"begin_idx": "50",
"end_idx": "86",
"entity_id": "C537145",
"entity_type": "Disease",
"text_name": "familial hypocalciuric hypercalcemia"
},
{
"begin_idx": "200",
"end_idx": "236",
"entity_id": "C537145",
"entity_type": "Disease",
"text_name": "familial hypocalciuric hy... | {
"begin_idx": "748",
"end_idx": "752",
"entity_id": "846",
"entity_type": "Gene",
"text_name": "CaSR"
} | {
"begin_idx": "313",
"end_idx": "326",
"entity_id": "D006934",
"entity_type": "Disease",
"text_name": "hypercalcemia"
} | No |
11769724 | [Apolipoprotein E 4 gene is a risk factor for Alzheimer's disease]. | OBJECTIVE: To study the association of Alzheimer disease (AD) with apolipoprotein E (ApoE) epsilon 4 allele and to find the biological peripheral markers for the laboratory diagnosis of AD. METHODS: 107 patients with AD, 68 patients with vascular dementia (VD) and 74 sex- and age-matched non-demented healthy individua... | [/"Apolipoprotein E 4"/ gene is a risk factor for /"Alzheimer's disease"/]. | OBJECTIVE: To study the association of /"Alzheimer disease"/ (/"AD"/) with /"apolipoprotein E"/ (/"ApoE"/) epsilon 4 allele and to find the biological peripheral markers for the laboratory diagnosis of /"AD"/. METHODS: 107 patients with /"AD"/, 68 patients with vascular dementia (VD) and 74 sex- and age-matched non-de... | [
{
"begin_idx": "46",
"end_idx": "65",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
},
{
"begin_idx": "107",
"end_idx": "124",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer disease"
},
{
"begin_idx... | {
"begin_idx": "1",
"end_idx": "19",
"entity_id": "348",
"entity_type": "Gene",
"text_name": "Apolipoprotein E 4"
} | {
"begin_idx": "46",
"end_idx": "65",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
} | Yes |
11769724 | [Apolipoprotein E 4 gene is a risk factor for Alzheimer's disease]. | OBJECTIVE: To study the association of Alzheimer disease (AD) with apolipoprotein E (ApoE) epsilon 4 allele and to find the biological peripheral markers for the laboratory diagnosis of AD. METHODS: 107 patients with AD, 68 patients with vascular dementia (VD) and 74 sex- and age-matched non-demented healthy individua... | [/"Apolipoprotein E 4"/ gene is a risk factor for Alzheimer's disease]. | OBJECTIVE: To study the association of Alzheimer disease (AD) with /"apolipoprotein E"/ (/"ApoE"/) epsilon 4 allele and to find the biological peripheral markers for the laboratory diagnosis of AD. METHODS: 107 patients with AD, 68 patients with /"vascular dementia"/ (/"VD"/) and 74 sex- and age-matched non-demented h... | [
{
"begin_idx": "46",
"end_idx": "65",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
},
{
"begin_idx": "107",
"end_idx": "124",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer disease"
},
{
"begin_idx... | {
"begin_idx": "153",
"end_idx": "157",
"entity_id": "348",
"entity_type": "Gene",
"text_name": "ApoE"
} | {
"begin_idx": "746",
"end_idx": "748",
"entity_id": "D015140",
"entity_type": "Disease",
"text_name": "VD"
} | No |
11774187 | Hemochromatosis (HFE) gene sequence analysis of formalin-fixed, paraffin-embedded liver biopsy specimens. | BACKGROUND: Hereditary hemochromatosis (HH) is a common disease predominantly characterized by mutations of the HFE gene. METHODS AND RESULTS: We investigated the utility of HFE gene sequence analysis in the diagnosis of HH in 61 prospectively accrued formalin-fixed, paraffin-embedded liver biopsy specimens with clini... | /"Hemochromatosis"/ (/"HFE"/) gene sequence analysis of formalin-fixed, paraffin-embedded liver biopsy specimens. | BACKGROUND: /"Hereditary hemochromatosis"/ (/"HH"/) is a common disease predominantly characterized by mutations of the /"HFE"/ gene. METHODS AND RESULTS: We investigated the utility of /"HFE"/ gene sequence analysis in the diagnosis of /"HH"/ in 61 prospectively accrued formalin-fixed, paraffin-embedded liver biopsy ... | [
{
"begin_idx": "0",
"end_idx": "15",
"entity_id": "D006432",
"entity_type": "Disease",
"text_name": "Hemochromatosis"
},
{
"begin_idx": "118",
"end_idx": "144",
"entity_id": "D006432",
"entity_type": "Disease",
"text_name": "Hereditary hemochromatosis"
},
{
"begin... | {
"begin_idx": "17",
"end_idx": "20",
"entity_id": "3077",
"entity_type": "Gene",
"text_name": "HFE"
} | {
"begin_idx": "118",
"end_idx": "144",
"entity_id": "D006432",
"entity_type": "Disease",
"text_name": "Hereditary hemochromatosis"
} | Yes |
11778498 | [Study on beta 2 adrenergic receptor genetic polymorphisms in asthmatics in the people of the Han nationality of northern China]. | OBJECTIVE: To analyze the association between beta 2-AR genetic polymorphism and asthma in the people of the Han nationality of northern China. METHODS: Allele Specific-PCR techniques were used to determine 16, 27 and 164 locus alleles of beta 2-AR genetic polymorphisms in 58 unrelated patients with asthma and 89 heal... | [Study on beta 2 adrenergic receptor genetic polymorphisms in asthmatics in the people of the Han nationality of northern China]. | OBJECTIVE: To analyze the association between /"beta 2-AR"/ genetic polymorphism and /"asthma"/ in the people of the Han nationality of northern China. METHODS: Allele Specific-PCR techniques were used to determine 16, 27 and 164 locus alleles of /"beta 2-AR"/ genetic polymorphisms in 58 unrelated patients with /"asth... | [
{
"begin_idx": "211",
"end_idx": "217",
"entity_id": "D001249",
"entity_type": "Disease",
"text_name": "asthma"
},
{
"begin_idx": "431",
"end_idx": "437",
"entity_id": "D001249",
"entity_type": "Disease",
"text_name": "asthma"
},
{
"begin_idx": "1956",
"end_id... | {
"begin_idx": "176",
"end_idx": "185",
"entity_id": "154",
"entity_type": "Gene",
"text_name": "beta 2-AR"
} | {
"begin_idx": "211",
"end_idx": "217",
"entity_id": "D001249",
"entity_type": "Disease",
"text_name": "asthma"
} | Yes |
11778498 | [Study on beta 2 adrenergic receptor genetic polymorphisms in asthmatics in the people of the Han nationality of northern China]. | OBJECTIVE: To analyze the association between beta 2-AR genetic polymorphism and asthma in the people of the Han nationality of northern China. METHODS: Allele Specific-PCR techniques were used to determine 16, 27 and 164 locus alleles of beta 2-AR genetic polymorphisms in 58 unrelated patients with asthma and 89 heal... | [Study on beta 2 adrenergic receptor genetic polymorphisms in /"asthmatics"/ in the people of the Han nationality of northern China]. | OBJECTIVE: To analyze the association between /"beta 2-AR"/ genetic polymorphism and asthma in the people of the Han nationality of northern China. METHODS: Allele Specific-PCR techniques were used to determine 16, 27 and 164 locus alleles of /"beta 2-AR"/ genetic polymorphisms in 58 unrelated patients with asthma and... | [
{
"begin_idx": "211",
"end_idx": "217",
"entity_id": "D001249",
"entity_type": "Disease",
"text_name": "asthma"
},
{
"begin_idx": "431",
"end_idx": "437",
"entity_id": "D001249",
"entity_type": "Disease",
"text_name": "asthma"
},
{
"begin_idx": "1956",
"end_id... | {
"begin_idx": "1454",
"end_idx": "1463",
"entity_id": "154",
"entity_type": "Gene",
"text_name": "beta 2-AR"
} | {
"begin_idx": "62",
"end_idx": "72",
"entity_id": "D013224",
"entity_type": "Disease",
"text_name": "asthmatics"
} | No |
11793481 | Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B. | Sanfilippo syndrome (mucopolysaccharidosis type III, MPS III) is a progressive disorder in which patients are characterized by severe central nervous system degeneration together with mild somatic disease. MPS III results from a deficiency in one of the four enzymes involved in the degradation of heparan sulfate, with... | /"Sanfilippo syndrome"/ in Turkey: Identification of novel mutations in subtypes A and B. | /"Sanfilippo syndrome"/ (/"mucopolysaccharidosis type III"/, MPS III) is a progressive disorder in which patients are characterized by severe central nervous system degeneration together with mild somatic disease. MPS III results from a deficiency in one of the four enzymes involved in the degradation of heparan sulfa... | [
{
"begin_idx": "275",
"end_idx": "290",
"entity_id": "D004194",
"entity_type": "Disease",
"text_name": "somatic disease"
},
{
"begin_idx": "0",
"end_idx": "19",
"entity_id": "D009084",
"entity_type": "Disease",
"text_name": "Sanfilippo syndrome"
},
{
"begin_idx": ... | {
"begin_idx": "419",
"end_idx": "423",
"entity_id": "6448",
"entity_type": "Gene",
"text_name": "SGSH"
} | {
"begin_idx": "107",
"end_idx": "137",
"entity_id": "D009084",
"entity_type": "Disease",
"text_name": "mucopolysaccharidosis type III"
} | Yes |
11793481 | Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B. | Sanfilippo syndrome (mucopolysaccharidosis type III, MPS III) is a progressive disorder in which patients are characterized by severe central nervous system degeneration together with mild somatic disease. MPS III results from a deficiency in one of the four enzymes involved in the degradation of heparan sulfate, with... | /"Sanfilippo syndrome"/ in Turkey: Identification of novel mutations in subtypes A and B. | /"Sanfilippo syndrome"/ (/"mucopolysaccharidosis type III"/, MPS III) is a progressive disorder in which patients are characterized by severe central nervous system degeneration together with mild somatic disease. MPS III results from a deficiency in one of the four enzymes involved in the degradation of heparan sulfa... | [
{
"begin_idx": "275",
"end_idx": "290",
"entity_id": "D004194",
"entity_type": "Disease",
"text_name": "somatic disease"
},
{
"begin_idx": "0",
"end_idx": "19",
"entity_id": "D009084",
"entity_type": "Disease",
"text_name": "Sanfilippo syndrome"
},
{
"begin_idx": ... | {
"begin_idx": "457",
"end_idx": "482",
"entity_id": "4669",
"entity_type": "Gene",
"text_name": "a-N-acetylglucosaminidase"
} | {
"begin_idx": "107",
"end_idx": "137",
"entity_id": "D009084",
"entity_type": "Disease",
"text_name": "mucopolysaccharidosis type III"
} | Yes |
11793481 | Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B. | Sanfilippo syndrome (mucopolysaccharidosis type III, MPS III) is a progressive disorder in which patients are characterized by severe central nervous system degeneration together with mild somatic disease. MPS III results from a deficiency in one of the four enzymes involved in the degradation of heparan sulfate, with... | Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B. | Sanfilippo syndrome (mucopolysaccharidosis type III, MPS III) is a progressive disorder in which patients are characterized by severe central nervous system degeneration together with mild /"somatic disease"/. MPS III results from a deficiency in one of the four enzymes involved in the degradation of heparan sulfate, ... | [
{
"begin_idx": "275",
"end_idx": "290",
"entity_id": "D004194",
"entity_type": "Disease",
"text_name": "somatic disease"
},
{
"begin_idx": "0",
"end_idx": "19",
"entity_id": "D009084",
"entity_type": "Disease",
"text_name": "Sanfilippo syndrome"
},
{
"begin_idx": ... | {
"begin_idx": "648",
"end_idx": "656",
"entity_id": "4669",
"entity_type": "Gene",
"text_name": "MPS IIIB"
} | {
"begin_idx": "275",
"end_idx": "290",
"entity_id": "D004194",
"entity_type": "Disease",
"text_name": "somatic disease"
} | No |
11793481 | Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B. | Sanfilippo syndrome (mucopolysaccharidosis type III, MPS III) is a progressive disorder in which patients are characterized by severe central nervous system degeneration together with mild somatic disease. MPS III results from a deficiency in one of the four enzymes involved in the degradation of heparan sulfate, with... | Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B. | Sanfilippo syndrome (mucopolysaccharidosis type III, MPS III) is a progressive disorder in which patients are characterized by severe central nervous system degeneration together with mild /"somatic disease"/. MPS III results from a deficiency in one of the four enzymes involved in the degradation of heparan sulfate, ... | [
{
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"entity_type": "Disease",
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},
{
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"end_idx": "19",
"entity_id": "D009084",
"entity_type": "Disease",
"text_name": "Sanfilippo syndrome"
},
{
"begin_idx": ... | {
"begin_idx": "865",
"end_idx": "873",
"entity_id": "4669",
"entity_type": "Gene",
"text_name": "MPS IIIB"
} | {
"begin_idx": "275",
"end_idx": "290",
"entity_id": "D004194",
"entity_type": "Disease",
"text_name": "somatic disease"
} | No |
11793483 | Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency. | Ornithine transcarbamylase (OTC) deficiency, a X-linked disorder, is the most frequent inborn error of the urea cycle. Point mutations and small deletions/insertions in the OTC gene are responsible for the majority of the cases and have a "private" character with little recurrence. We report on eleven pathological cha... | Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for /"ornithine transcarbamylase"/ (/"OTC"/) in patients with /"OTC deficiency"/. | /"Ornithine transcarbamylase (OTC) deficiency"/ency, a X-linked disorder, is the most frequent inborn error of the urea cycle. Point mutations and small deletions/insertions in the /"OTC"/ gene are responsible for the majority of the cases and have a "private" character with little recurrence. We report on eleven path... | [
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"end_idx": "218",
"entity_id": "D020163",
"entity_type": "Disease",
"text_name": "OTC deficiency"
},
{
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"end_idx": "263",
"entity_id": "D020163",
"entity_type": "Disease",
"text_name": "Ornithine transcarbamylase (OTC) deficiency"
... | {
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"end_idx": "180",
"entity_id": "5009",
"entity_type": "Gene",
"text_name": "ornithine transcarbamylase"
} | {
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"end_idx": "263",
"entity_id": "D020163",
"entity_type": "Disease",
"text_name": "Ornithine transcarbamylase (OTC) deficiency"
} | Yes |
11793483 | Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency. | Ornithine transcarbamylase (OTC) deficiency, a X-linked disorder, is the most frequent inborn error of the urea cycle. Point mutations and small deletions/insertions in the OTC gene are responsible for the majority of the cases and have a "private" character with little recurrence. We report on eleven pathological cha... | Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for /"ornithine transcarbamylase"/ (/"OTC"/) in patients with OTC deficiency. | Ornithine transcarbamylase (/"OTC"/) deficiency, a /"X-linked disorder"/, is the most frequent inborn error of the urea cycle. Point mutations and small deletions/insertions in the /"OTC"/ gene are responsible for the majority of the cases and have a "private" character with little recurrence. We report on eleven path... | [
{
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"end_idx": "218",
"entity_id": "D020163",
"entity_type": "Disease",
"text_name": "OTC deficiency"
},
{
"begin_idx": "220",
"end_idx": "263",
"entity_id": "D020163",
"entity_type": "Disease",
"text_name": "Ornithine transcarbamylase (OTC) deficiency"
... | {
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"end_idx": "180",
"entity_id": "5009",
"entity_type": "Gene",
"text_name": "ornithine transcarbamylase"
} | {
"begin_idx": "267",
"end_idx": "284",
"entity_id": "D040181",
"entity_type": "Disease",
"text_name": "X-linked disorder"
} | No |
11799476 | CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. | Recent investigations identified heterozygous CFC1 mutations in subjects with heterotaxy syndrome, all of whom had congenital cardiac malformations, including malposition of the great arteries. We hypothesized that a subset of patients with similar types of congenital heart disease---namely, transposition of the great... | /"CFC1"/ mutations in patients with /"transposition of the great arteries"/ and double-outlet right ventricle. | Recent investigations identified heterozygous /"CFC1"/ mutations in subjects with heterotaxy syndrome, all of whom had congenital cardiac malformations, including malposition of the great arteries. We hypothesized that a subset of patients with similar types of congenital heart disease---namely, /"transposition of the... | [
{
"begin_idx": "72",
"end_idx": "85",
"entity_id": "D004310",
"entity_type": "Disease",
"text_name": "double-outlet"
},
{
"begin_idx": "436",
"end_idx": "449",
"entity_id": "D004310",
"entity_type": "Disease",
"text_name": "double-outlet"
},
{
"begin_idx": "839",
... | {
"begin_idx": "0",
"end_idx": "4",
"entity_id": "55997",
"entity_type": "Gene",
"text_name": "CFC1"
} | {
"begin_idx": "32",
"end_idx": "67",
"entity_id": "D014188",
"entity_type": "Disease",
"text_name": "transposition of the great arteries"
} | Yes |
11799476 | CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. | Recent investigations identified heterozygous CFC1 mutations in subjects with heterotaxy syndrome, all of whom had congenital cardiac malformations, including malposition of the great arteries. We hypothesized that a subset of patients with similar types of congenital heart disease---namely, transposition of the great... | /"CFC1"/ mutations in patients with transposition of the great arteries and /"double-outlet"/ right ventricle. | Recent investigations identified heterozygous /"CFC1"/ mutations in subjects with heterotaxy syndrome, all of whom had congenital cardiac malformations, including malposition of the great arteries. We hypothesized that a subset of patients with similar types of congenital heart disease---namely, transposition of the g... | [
{
"begin_idx": "72",
"end_idx": "85",
"entity_id": "D004310",
"entity_type": "Disease",
"text_name": "double-outlet"
},
{
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"entity_id": "D004310",
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"text_name": "double-outlet"
},
{
"begin_idx": "839",
... | {
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} | {
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"end_idx": "85",
"entity_id": "D004310",
"entity_type": "Disease",
"text_name": "double-outlet"
} | Yes |
11799476 | CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. | Recent investigations identified heterozygous CFC1 mutations in subjects with heterotaxy syndrome, all of whom had congenital cardiac malformations, including malposition of the great arteries. We hypothesized that a subset of patients with similar types of congenital heart disease---namely, transposition of the great... | /"CFC1"/ mutations in patients with transposition of the great arteries and double-outlet right ventricle. | Recent investigations identified heterozygous /"CFC1"/ mutations in subjects with heterotaxy syndrome, all of whom had /"congenital cardiac malformations"/, including malposition of the great arteries. We hypothesized that a subset of patients with similar types of /"congenital heart disease"/---namely, transposition ... | [
{
"begin_idx": "72",
"end_idx": "85",
"entity_id": "D004310",
"entity_type": "Disease",
"text_name": "double-outlet"
},
{
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"entity_id": "D004310",
"entity_type": "Disease",
"text_name": "double-outlet"
},
{
"begin_idx": "839",
... | {
"begin_idx": "522",
"end_idx": "526",
"entity_id": "55997",
"entity_type": "Gene",
"text_name": "CFC1"
} | {
"begin_idx": "591",
"end_idx": "608",
"entity_id": "D006331",
"entity_type": "Disease",
"text_name": "cardiac disorders"
} | No |
11799476 | CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. | Recent investigations identified heterozygous CFC1 mutations in subjects with heterotaxy syndrome, all of whom had congenital cardiac malformations, including malposition of the great arteries. We hypothesized that a subset of patients with similar types of congenital heart disease---namely, transposition of the great... | /"CFC1"/ mutations in patients with transposition of the great arteries and double-outlet right ventricle. | Recent investigations identified heterozygous /"CFC1"/ mutations in subjects with heterotaxy syndrome, all of whom had /"congenital cardiac malformations"/, including malposition of the great arteries. We hypothesized that a subset of patients with similar types of /"congenital heart disease"/---namely, transposition ... | [
{
"begin_idx": "72",
"end_idx": "85",
"entity_id": "D004310",
"entity_type": "Disease",
"text_name": "double-outlet"
},
{
"begin_idx": "436",
"end_idx": "449",
"entity_id": "D004310",
"entity_type": "Disease",
"text_name": "double-outlet"
},
{
"begin_idx": "839",
... | {
"begin_idx": "1007",
"end_idx": "1011",
"entity_id": "55997",
"entity_type": "Gene",
"text_name": "CFC1"
} | {
"begin_idx": "218",
"end_idx": "250",
"entity_id": "D006331",
"entity_type": "Disease",
"text_name": "congenital cardiac malformations"
} | No |
11802810 | Copper-transporting P-type adenosine triphosphatase (ATP7B) is expressed in human breast carcinoma. | This is the first report to show that a copper-transporting P-type adenosine triphosphatase, ATP7B, is expressed in certain breast carcinomas, and a priori knowledge of its expression is important for the choice of therapy. We investigated the hypothesis that ATP7B, which was shown to be associated with cisplatin resi... | Copper-transporting P-type adenosine triphosphatase (/"ATP7B"/) is expressed in human /"breast carcinoma"/. | This is the first report to show that a copper-transporting P-type adenosine triphosphatase, /"ATP7B"/, is expressed in certain /"breast carcinomas"/, and a priori knowledge of its expression is important for the choice of therapy. We investigated the hypothesis that /"ATP7B"/, which was shown to be associated with ci... | [
{
"begin_idx": "82",
"end_idx": "98",
"entity_id": "D001943",
"entity_type": "Disease",
"text_name": "breast carcinoma"
},
{
"begin_idx": "224",
"end_idx": "241",
"entity_id": "D001943",
"entity_type": "Disease",
"text_name": "breast carcinomas"
},
{
"begin_idx": ... | {
"begin_idx": "53",
"end_idx": "58",
"entity_id": "540",
"entity_type": "Gene",
"text_name": "ATP7B"
} | {
"begin_idx": "224",
"end_idx": "241",
"entity_id": "D001943",
"entity_type": "Disease",
"text_name": "breast carcinomas"
} | Yes |
11802810 | Copper-transporting P-type adenosine triphosphatase (ATP7B) is expressed in human breast carcinoma. | This is the first report to show that a copper-transporting P-type adenosine triphosphatase, ATP7B, is expressed in certain breast carcinomas, and a priori knowledge of its expression is important for the choice of therapy. We investigated the hypothesis that ATP7B, which was shown to be associated with cisplatin resi... | Copper-transporting P-type adenosine triphosphatase (/"ATP7B"/) is expressed in human breast carcinoma. | This is the first report to show that a copper-transporting P-type adenosine triphosphatase, /"ATP7B"/, is expressed in certain breast carcinomas, and a priori knowledge of its expression is important for the choice of therapy. We investigated the hypothesis that /"ATP7B"/, which was shown to be associated with cispla... | [
{
"begin_idx": "82",
"end_idx": "98",
"entity_id": "D001943",
"entity_type": "Disease",
"text_name": "breast carcinoma"
},
{
"begin_idx": "224",
"end_idx": "241",
"entity_id": "D001943",
"entity_type": "Disease",
"text_name": "breast carcinomas"
},
{
"begin_idx": ... | {
"begin_idx": "1112",
"end_idx": "1117",
"entity_id": "540",
"entity_type": "Gene",
"text_name": "ATP7B"
} | {
"begin_idx": "792",
"end_idx": "798",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "tumors"
} | No |
11843659 | Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa. | /"Toenail dystrophy"/ with /"COL7A1"/ glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa. | [
{
"begin_idx": "0",
"end_idx": "17",
"entity_id": "C564384",
"entity_type": "Disease",
"text_name": "Toenail dystrophy"
},
{
"begin_idx": "122",
"end_idx": "154",
"entity_id": "D016108",
"entity_type": "Disease",
"text_name": "dystrophic epidermolysis bullosa"
},
{
... | {
"begin_idx": "23",
"end_idx": "29",
"entity_id": "1294",
"entity_type": "Gene",
"text_name": "COL7A1"
} | {
"begin_idx": "0",
"end_idx": "17",
"entity_id": "C564384",
"entity_type": "Disease",
"text_name": "Toenail dystrophy"
} | Yes | ||
11843659 | Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa. | Toenail dystrophy with /"COL7A1"/ glycine substitution mutations segregates as an autosomal dominant trait in 2 families with /"dystrophic epidermolysis bullosa"/. | [
{
"begin_idx": "0",
"end_idx": "17",
"entity_id": "C564384",
"entity_type": "Disease",
"text_name": "Toenail dystrophy"
},
{
"begin_idx": "122",
"end_idx": "154",
"entity_id": "D016108",
"entity_type": "Disease",
"text_name": "dystrophic epidermolysis bullosa"
},
{
... | {
"begin_idx": "23",
"end_idx": "29",
"entity_id": "1294",
"entity_type": "Gene",
"text_name": "COL7A1"
} | {
"begin_idx": "122",
"end_idx": "154",
"entity_id": "D016108",
"entity_type": "Disease",
"text_name": "dystrophic epidermolysis bullosa"
} | No | ||
11857544 | Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. | Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by severe immunologic defects, reduced pigmentation, bleeding tendency, and progressive neurological dysfunction. Most patients present in early childhood and die unless treated by bone marrow transplantation. About 10-15% of patients ... | Apparent genotype-phenotype correlation in childhood, adolescent, and adult /"Chediak-Higashi syndrome"/. | /"Chediak-Higashi syndrome"/ (/"CHS"/) is a rare autosomal recessive disorder characterized by severe immunologic defects, reduced pigmentation, bleeding tendency, and progressive neurological dysfunction. Most patients present in early childhood and die unless treated by bone marrow transplantation. About 10-15% of p... | [
{
"begin_idx": "76",
"end_idx": "100",
"entity_id": "D002609",
"entity_type": "Disease",
"text_name": "Chediak-Higashi syndrome"
},
{
"begin_idx": "102",
"end_idx": "126",
"entity_id": "D002609",
"entity_type": "Disease",
"text_name": "Chediak-Higashi syndrome"
},
{
... | {
"begin_idx": "807",
"end_idx": "811",
"entity_id": "1130",
"entity_type": "Gene",
"text_name": "CHS1"
} | {
"begin_idx": "76",
"end_idx": "100",
"entity_id": "D002609",
"entity_type": "Disease",
"text_name": "Chediak-Higashi syndrome"
} | Yes |
11857544 | Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. | Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by severe immunologic defects, reduced pigmentation, bleeding tendency, and progressive neurological dysfunction. Most patients present in early childhood and die unless treated by bone marrow transplantation. About 10-15% of patients ... | Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. | Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by severe immunologic defects, reduced pigmentation, /"bleeding"/ tendency, and progressive neurological dysfunction. Most patients present in early childhood and die unless treated by bone marrow transplantation. About 10-15% of patie... | [
{
"begin_idx": "76",
"end_idx": "100",
"entity_id": "D002609",
"entity_type": "Disease",
"text_name": "Chediak-Higashi syndrome"
},
{
"begin_idx": "102",
"end_idx": "126",
"entity_id": "D002609",
"entity_type": "Disease",
"text_name": "Chediak-Higashi syndrome"
},
{
... | {
"begin_idx": "1132",
"end_idx": "1136",
"entity_id": "1130",
"entity_type": "Gene",
"text_name": "CHS1"
} | {
"begin_idx": "239",
"end_idx": "247",
"entity_id": "D006470",
"entity_type": "Disease",
"text_name": "bleeding"
} | No |
11859714 | [Glutathione-S-transferase M1 genotype in patients with hepatocellular carcinoma]. | OBJECTIVE: To study the glutathione-S-tranterase M1 (GSTM1) genotype in patients with hepatocellular carcinoma (HCC) with aflatoxin B1(AFB1) in a high risk region in Guangxi. METHODS: Specific GSTM1 primers and PCR technique were used for the detection of GSTM1 genotype using the peripheral leukocytes. A total of 379 ... | [Glutathione-S-transferase M1 genotype in patients with /"hepatocellular carcinoma"/]. | OBJECTIVE: To study the /"glutathione-S-tranterase M1"/ (/"GSTM1"/) genotype in patients with /"hepatocellular carcinoma"/ (/"HCC"/) with aflatoxin B1(AFB1) in a high risk region in Guangxi. METHODS: Specific /"GSTM1"/ primers and PCR technique were used for the detection of /"GSTM1"/ genotype using the peripheral leu... | [
{
"begin_idx": "56",
"end_idx": "80",
"entity_id": "D006528",
"entity_type": "Disease",
"text_name": "hepatocellular carcinoma"
},
{
"begin_idx": "169",
"end_idx": "193",
"entity_id": "D006528",
"entity_type": "Disease",
"text_name": "hepatocellular carcinoma"
},
{
... | {
"begin_idx": "107",
"end_idx": "134",
"entity_id": "2944",
"entity_type": "Gene",
"text_name": "glutathione-S-tranterase M1"
} | {
"begin_idx": "56",
"end_idx": "80",
"entity_id": "D006528",
"entity_type": "Disease",
"text_name": "hepatocellular carcinoma"
} | Yes |
11859714 | [Glutathione-S-transferase M1 genotype in patients with hepatocellular carcinoma]. | OBJECTIVE: To study the glutathione-S-tranterase M1 (GSTM1) genotype in patients with hepatocellular carcinoma (HCC) with aflatoxin B1(AFB1) in a high risk region in Guangxi. METHODS: Specific GSTM1 primers and PCR technique were used for the detection of GSTM1 genotype using the peripheral leukocytes. A total of 379 ... | [Glutathione-S-transferase M1 genotype in patients with hepatocellular carcinoma]. | OBJECTIVE: To study the /"glutathione-S-tranterase M1"/ (/"GSTM1"/) genotype in patients with hepatocellular carcinoma (HCC) with aflatoxin B1(AFB1) in a high risk region in Guangxi. METHODS: Specific /"GSTM1"/ primers and PCR technique were used for the detection of /"GSTM1"/ genotype using the peripheral leukocytes.... | [
{
"begin_idx": "56",
"end_idx": "80",
"entity_id": "D006528",
"entity_type": "Disease",
"text_name": "hepatocellular carcinoma"
},
{
"begin_idx": "169",
"end_idx": "193",
"entity_id": "D006528",
"entity_type": "Disease",
"text_name": "hepatocellular carcinoma"
},
{
... | {
"begin_idx": "822",
"end_idx": "827",
"entity_id": "2944",
"entity_type": "Gene",
"text_name": "GSTM1"
} | {
"begin_idx": "535",
"end_idx": "541",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "cancer"
} | No |
11891618 | Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus. | Recently, a positional cloning study proposed that haplotypes at the calpain-10 locus (CAPN10) are associated with increased risk of type 2 diabetes, or non-insulin-dependent diabetes mellitus, in Mexican Americans, Finns, and Germans. To inform the interpretation of the original mapping results and to look for eviden... | Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the /"calpain-10"/ locus. | Recently, a positional cloning study proposed that haplotypes at the /"calpain-10"/ locus (/"CAPN10"/) are associated with increased risk of type 2 diabetes, or /"non-insulin-dependent diabetes mellitus"/, in Mexican Americans, Finns, and Germans. To inform the interpretation of the original mapping results and to loo... | [
{
"begin_idx": "55",
"end_idx": "63",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
},
{
"begin_idx": "253",
"end_idx": "261",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
},
{
"begin_idx": "266",
"end_i... | {
"begin_idx": "95",
"end_idx": "105",
"entity_id": "11132",
"entity_type": "Gene",
"text_name": "calpain-10"
} | {
"begin_idx": "266",
"end_idx": "305",
"entity_id": "D003924",
"entity_type": "Disease",
"text_name": "non-insulin-dependent diabetes mellitus"
} | Yes |
11891618 | Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus. | Recently, a positional cloning study proposed that haplotypes at the calpain-10 locus (CAPN10) are associated with increased risk of type 2 diabetes, or non-insulin-dependent diabetes mellitus, in Mexican Americans, Finns, and Germans. To inform the interpretation of the original mapping results and to look for eviden... | Geographic and haplotype structure of candidate type 2 /"diabetes"/ susceptibility variants at the /"calpain-10"/ locus. | Recently, a positional cloning study proposed that haplotypes at the /"calpain-10"/ locus (/"CAPN10"/) are associated with increased risk of type 2 /"diabetes"/, or non-insulin-dependent diabetes mellitus, in Mexican Americans, Finns, and Germans. To inform the interpretation of the original mapping results and to loo... | [
{
"begin_idx": "55",
"end_idx": "63",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
},
{
"begin_idx": "253",
"end_idx": "261",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
},
{
"begin_idx": "266",
"end_i... | {
"begin_idx": "1152",
"end_idx": "1158",
"entity_id": "11132",
"entity_type": "Gene",
"text_name": "CAPN10"
} | {
"begin_idx": "55",
"end_idx": "63",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
} | No |
11895223 | HLA-DRB3*0101 is associated with Graves' disease in Jamaicans. | OBJECTIVES: Graves' disease is associated with different human leucocyte antigen (HLA) genes in different populations. This studywasdesigned to examinethe HLA class II associations with Graves' disease in Jamaicans. PATIENTS: One hundred and six Jamaicans with Graves' disease and 104 controls. DESIGN: Oligotyping for ... | HLA-DRB3*0101 is associated with /"Graves' disease"/ in Jamaicans. | OBJECTIVES: /"Graves' disease"/ is associated with different human leucocyte antigen (HLA) genes in different populations. This studywasdesigned to examinethe HLA class II associations with /"Graves' disease"/ in Jamaicans. PATIENTS: One hundred and six Jamaicans with /"Graves' disease"/ and 104 controls. DESIGN: Olig... | [
{
"begin_idx": "966",
"end_idx": "985",
"entity_id": "D001327",
"entity_type": "Disease",
"text_name": "autoimmune diseases"
},
{
"begin_idx": "33",
"end_idx": "48",
"entity_id": "D006111",
"entity_type": "Disease",
"text_name": "Graves' disease"
},
{
"begin_idx":... | {
"begin_idx": "382",
"end_idx": "390",
"entity_id": "3123",
"entity_type": "Gene",
"text_name": "HLA-DRB1"
} | {
"begin_idx": "33",
"end_idx": "48",
"entity_id": "D006111",
"entity_type": "Disease",
"text_name": "Graves' disease"
} | Yes |
11895223 | HLA-DRB3*0101 is associated with Graves' disease in Jamaicans. | OBJECTIVES: Graves' disease is associated with different human leucocyte antigen (HLA) genes in different populations. This studywasdesigned to examinethe HLA class II associations with Graves' disease in Jamaicans. PATIENTS: One hundred and six Jamaicans with Graves' disease and 104 controls. DESIGN: Oligotyping for ... | HLA-DRB3*0101 is associated with /"Graves' disease"/ in Jamaicans. | OBJECTIVES: /"Graves' disease"/ is associated with different human leucocyte antigen (HLA) genes in different populations. This studywasdesigned to examinethe HLA class II associations with /"Graves' disease"/ in Jamaicans. PATIENTS: One hundred and six Jamaicans with /"Graves' disease"/ and 104 controls. DESIGN: Olig... | [
{
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"end_idx": "985",
"entity_id": "D001327",
"entity_type": "Disease",
"text_name": "autoimmune diseases"
},
{
"begin_idx": "33",
"end_idx": "48",
"entity_id": "D006111",
"entity_type": "Disease",
"text_name": "Graves' disease"
},
{
"begin_idx":... | {
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"end_idx": "402",
"entity_id": "3117",
"entity_type": "Gene",
"text_name": "DQA1"
} | {
"begin_idx": "33",
"end_idx": "48",
"entity_id": "D006111",
"entity_type": "Disease",
"text_name": "Graves' disease"
} | Yes |
11895223 | HLA-DRB3*0101 is associated with Graves' disease in Jamaicans. | OBJECTIVES: Graves' disease is associated with different human leucocyte antigen (HLA) genes in different populations. This studywasdesigned to examinethe HLA class II associations with Graves' disease in Jamaicans. PATIENTS: One hundred and six Jamaicans with Graves' disease and 104 controls. DESIGN: Oligotyping for ... | HLA-DRB3*0101 is associated with /"Graves' disease"/ in Jamaicans. | OBJECTIVES: /"Graves' disease"/ is associated with different human leucocyte antigen (HLA) genes in different populations. This studywasdesigned to examinethe HLA class II associations with /"Graves' disease"/ in Jamaicans. PATIENTS: One hundred and six Jamaicans with /"Graves' disease"/ and 104 controls. DESIGN: Olig... | [
{
"begin_idx": "966",
"end_idx": "985",
"entity_id": "D001327",
"entity_type": "Disease",
"text_name": "autoimmune diseases"
},
{
"begin_idx": "33",
"end_idx": "48",
"entity_id": "D006111",
"entity_type": "Disease",
"text_name": "Graves' disease"
},
{
"begin_idx":... | {
"begin_idx": "407",
"end_idx": "411",
"entity_id": "3119",
"entity_type": "Gene",
"text_name": "DQB1"
} | {
"begin_idx": "33",
"end_idx": "48",
"entity_id": "D006111",
"entity_type": "Disease",
"text_name": "Graves' disease"
} | Yes |
11895223 | HLA-DRB3*0101 is associated with Graves' disease in Jamaicans. | OBJECTIVES: Graves' disease is associated with different human leucocyte antigen (HLA) genes in different populations. This studywasdesigned to examinethe HLA class II associations with Graves' disease in Jamaicans. PATIENTS: One hundred and six Jamaicans with Graves' disease and 104 controls. DESIGN: Oligotyping for ... | /"HLA-DRB3"/*0101 is associated with /"Graves' disease"/ in Jamaicans. | OBJECTIVES: /"Graves' disease"/ is associated with different human leucocyte antigen (HLA) genes in different populations. This studywasdesigned to examinethe HLA class II associations with /"Graves' disease"/ in Jamaicans. PATIENTS: One hundred and six Jamaicans with /"Graves' disease"/ and 104 controls. DESIGN: Olig... | [
{
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"entity_id": "D001327",
"entity_type": "Disease",
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},
{
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"entity_id": "D006111",
"entity_type": "Disease",
"text_name": "Graves' disease"
},
{
"begin_idx":... | {
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"entity_id": "3125",
"entity_type": "Gene",
"text_name": "HLA-DRB3"
} | {
"begin_idx": "911",
"end_idx": "926",
"entity_id": "D006111",
"entity_type": "Disease",
"text_name": "Graves' disease"
} | No |
11895223 | HLA-DRB3*0101 is associated with Graves' disease in Jamaicans. | OBJECTIVES: Graves' disease is associated with different human leucocyte antigen (HLA) genes in different populations. This studywasdesigned to examinethe HLA class II associations with Graves' disease in Jamaicans. PATIENTS: One hundred and six Jamaicans with Graves' disease and 104 controls. DESIGN: Oligotyping for ... | HLA-DRB3*0101 is associated with /"Graves' disease"/ in Jamaicans. | OBJECTIVES: /"Graves' disease"/ is associated with different human leucocyte antigen (HLA) genes in different populations. This studywasdesigned to examinethe HLA class II associations with /"Graves' disease"/ in Jamaicans. PATIENTS: One hundred and six Jamaicans with /"Graves' disease"/ and 104 controls. DESIGN: Olig... | [
{
"begin_idx": "966",
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"entity_id": "D001327",
"entity_type": "Disease",
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},
{
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"entity_id": "D006111",
"entity_type": "Disease",
"text_name": "Graves' disease"
},
{
"begin_idx":... | {
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"entity_id": "3126",
"entity_type": "Gene",
"text_name": "DRB4"
} | {
"begin_idx": "1122",
"end_idx": "1137",
"entity_id": "D006111",
"entity_type": "Disease",
"text_name": "Graves' disease"
} | No |
11895223 | HLA-DRB3*0101 is associated with Graves' disease in Jamaicans. | OBJECTIVES: Graves' disease is associated with different human leucocyte antigen (HLA) genes in different populations. This studywasdesigned to examinethe HLA class II associations with Graves' disease in Jamaicans. PATIENTS: One hundred and six Jamaicans with Graves' disease and 104 controls. DESIGN: Oligotyping for ... | HLA-DRB3*0101 is associated with Graves' disease in Jamaicans. | OBJECTIVES: Graves' disease is associated with different human leucocyte antigen (HLA) genes in different populations. This studywasdesigned to examinethe HLA class II associations with Graves' disease in Jamaicans. PATIENTS: One hundred and six Jamaicans with Graves' disease and 104 controls. DESIGN: Oligotyping for ... | [
{
"begin_idx": "966",
"end_idx": "985",
"entity_id": "D001327",
"entity_type": "Disease",
"text_name": "autoimmune diseases"
},
{
"begin_idx": "33",
"end_idx": "48",
"entity_id": "D006111",
"entity_type": "Disease",
"text_name": "Graves' disease"
},
{
"begin_idx":... | {
"begin_idx": "382",
"end_idx": "390",
"entity_id": "3123",
"entity_type": "Gene",
"text_name": "HLA-DRB1"
} | {
"begin_idx": "966",
"end_idx": "985",
"entity_id": "D001327",
"entity_type": "Disease",
"text_name": "autoimmune diseases"
} | No |
11895872 | A polymorphism in the CYP17 gene and risk of prostate cancer. | Steroid hormones are important in the etiology and progression of prostate cancer, and expression of genes involved in hormone production may alter susceptibility. One such gene is CYP17, which encodes the cytochrome P450c17a enzyme responsible for the biosynthesis of testosterone. A T to C transition (A2 allele) in t... | A polymorphism in the /"CYP17"/ gene and risk of /"prostate cancer"/. | Steroid hormones are important in the etiology and progression of /"prostate cancer"/, and expression of genes involved in hormone production may alter susceptibility. One such gene is /"CYP17"/, which encodes the /"cytochrome P450c17"/a enzyme responsible for the biosynthesis of testosterone. A T to C transition (A2 ... | [
{
"begin_idx": "45",
"end_idx": "60",
"entity_id": "D011471",
"entity_type": "Disease",
"text_name": "prostate cancer"
},
{
"begin_idx": "128",
"end_idx": "143",
"entity_id": "D011471",
"entity_type": "Disease",
"text_name": "prostate cancer"
},
{
"begin_idx": "53... | {
"begin_idx": "268",
"end_idx": "286",
"entity_id": "1586",
"entity_type": "Gene",
"text_name": "cytochrome P450c17"
} | {
"begin_idx": "1561",
"end_idx": "1585",
"entity_id": "D011471",
"entity_type": "Disease",
"text_name": "familial prostate cancer"
} | Yes |
11895872 | A polymorphism in the CYP17 gene and risk of prostate cancer. | Steroid hormones are important in the etiology and progression of prostate cancer, and expression of genes involved in hormone production may alter susceptibility. One such gene is CYP17, which encodes the cytochrome P450c17a enzyme responsible for the biosynthesis of testosterone. A T to C transition (A2 allele) in t... | A polymorphism in the CYP17 gene and risk of /"prostate cancer"/. | Steroid hormones are important in the etiology and progression of /"prostate cancer"/, and expression of genes involved in hormone production may alter susceptibility. One such gene is CYP17, which encodes the cytochrome P450c17a enzyme responsible for the biosynthesis of testosterone. A T to C transition (A2 allele) ... | [
{
"begin_idx": "45",
"end_idx": "60",
"entity_id": "D011471",
"entity_type": "Disease",
"text_name": "prostate cancer"
},
{
"begin_idx": "128",
"end_idx": "143",
"entity_id": "D011471",
"entity_type": "Disease",
"text_name": "prostate cancer"
},
{
"begin_idx": "53... | {
"begin_idx": "902",
"end_idx": "913",
"entity_id": "597",
"entity_type": "Gene",
"text_name": "A1/A2 and 0"
} | {
"begin_idx": "128",
"end_idx": "143",
"entity_id": "D011471",
"entity_type": "Disease",
"text_name": "prostate cancer"
} | No |
11930987 | Physical activity does not mitigate G-protein-related genetic risk for obesity in individuals of African descent. | The G-protein beta3 subunit 825 TT genotype has been associated with obesity and hypertension. We examined the interaction between the G-protein TT genotype, physical activity and body mass index (BMI) in a cross-sectional study of African immigrants and African Americans. The genotype frequencies were 6.3% CC, 37.7% ... | Physical activity does not mitigate G-protein-related genetic risk for /"obesity"/ in individuals of African descent. | The /"G-protein beta3"/ subunit 825 TT genotype has been associated with /"obesity"/ and hypertension. We examined the interaction between the G-protein TT genotype, physical activity and body mass index (BMI) in a cross-sectional study of African immigrants and African Americans. The genotype frequencies were 6.3% CC... | [
{
"begin_idx": "195",
"end_idx": "207",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertension"
},
{
"begin_idx": "71",
"end_idx": "78",
"entity_id": "D009765",
"entity_type": "Disease",
"text_name": "obesity"
},
{
"begin_idx": "183",
"en... | {
"begin_idx": "118",
"end_idx": "133",
"entity_id": "2784",
"entity_type": "Gene",
"text_name": "G-protein beta3"
} | {
"begin_idx": "71",
"end_idx": "78",
"entity_id": "D009765",
"entity_type": "Disease",
"text_name": "obesity"
} | Yes |
11930987 | Physical activity does not mitigate G-protein-related genetic risk for obesity in individuals of African descent. | The G-protein beta3 subunit 825 TT genotype has been associated with obesity and hypertension. We examined the interaction between the G-protein TT genotype, physical activity and body mass index (BMI) in a cross-sectional study of African immigrants and African Americans. The genotype frequencies were 6.3% CC, 37.7% ... | Physical activity does not mitigate G-protein-related genetic risk for obesity in individuals of African descent. | The /"G-protein beta3"/ subunit 825 TT genotype has been associated with obesity and /"hypertension"/. We examined the interaction between the G-protein TT genotype, physical activity and body mass index (BMI) in a cross-sectional study of African immigrants and African Americans. The genotype frequencies were 6.3% CC... | [
{
"begin_idx": "195",
"end_idx": "207",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertension"
},
{
"begin_idx": "71",
"end_idx": "78",
"entity_id": "D009765",
"entity_type": "Disease",
"text_name": "obesity"
},
{
"begin_idx": "183",
"en... | {
"begin_idx": "118",
"end_idx": "133",
"entity_id": "2784",
"entity_type": "Gene",
"text_name": "G-protein beta3"
} | {
"begin_idx": "195",
"end_idx": "207",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertension"
} | No |
11933203 | An osteopontin (SPP1) polymorphism is associated with systemic lupus erythematosus. | Osteopontin (SPP1) is a soluble ligand with pleomorphic immunologic activities including activation of macrophage chemotaxis, promotion of Th1 responses, and activation of B1 B cells. It has been implicated in the development of murine lupus and is overexpressed in humans with systemic lupus erythematosus (SLE). We ex... | An /"osteopontin"/ (/"SPP1"/) polymorphism is associated with /"systemic lupus erythematosus"/. | /"Osteopontin"/ (/"SPP1"/) is a soluble ligand with pleomorphic immunologic activities including activation of macrophage chemotaxis, promotion of Th1 responses, and activation of B1 B cells. It has been implicated in the development of murine lupus and is overexpressed in humans with /"systemic lupus erythematosus"/ ... | [
{
"begin_idx": "804",
"end_idx": "829",
"entity_id": "D007239",
"entity_type": "Disease",
"text_name": "opportunisitic infections"
},
{
"begin_idx": "786",
"end_idx": "799",
"entity_id": "D007674",
"entity_type": "Disease",
"text_name": "renal disease"
},
{
"begin... | {
"begin_idx": "3",
"end_idx": "14",
"entity_id": "6696",
"entity_type": "Gene",
"text_name": "osteopontin"
} | {
"begin_idx": "54",
"end_idx": "82",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "systemic lupus erythematosus"
} | Yes |
11933203 | An osteopontin (SPP1) polymorphism is associated with systemic lupus erythematosus. | Osteopontin (SPP1) is a soluble ligand with pleomorphic immunologic activities including activation of macrophage chemotaxis, promotion of Th1 responses, and activation of B1 B cells. It has been implicated in the development of murine lupus and is overexpressed in humans with systemic lupus erythematosus (SLE). We ex... | An osteopontin (SPP1) polymorphism is associated with /"systemic lupus erythematosus"/. | Osteopontin (SPP1) is a soluble ligand with pleomorphic immunologic activities including activation of macrophage chemotaxis, promotion of /"Th1"/ responses, and activation of B1 B cells. It has been implicated in the development of murine lupus and is overexpressed in humans with /"systemic lupus erythematosus"/ (/"S... | [
{
"begin_idx": "804",
"end_idx": "829",
"entity_id": "D007239",
"entity_type": "Disease",
"text_name": "opportunisitic infections"
},
{
"begin_idx": "786",
"end_idx": "799",
"entity_id": "D007674",
"entity_type": "Disease",
"text_name": "renal disease"
},
{
"begin... | {
"begin_idx": "223",
"end_idx": "226",
"entity_id": "51497",
"entity_type": "Gene",
"text_name": "Th1"
} | {
"begin_idx": "362",
"end_idx": "390",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "systemic lupus erythematosus"
} | No |
11935341 | Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. | Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an inherited neurologic disorder with macrocephaly before the age of one and slowly progressive deterioration of motor functions. Magnetic resonance imaging shows diffusely abnormal and swollen white matter of the cerebral hemispheres and the presence... | Identification of novel mutations in /"MLC1"/ responsible for /"Megalencephalic leukoencephalopathy with subcortical cysts"/. | /"Megalencephalic leukoencephalopathy with subcortical cysts"/ (/"MLC"/LC"/) is an inherited neurologic disorder with macrocephaly before the age of one and slowly progressive deterioration of motor functions. Magnetic resonance imaging shows diffusely abnormal and swollen white matter of the cerebral hemispheres and ... | [
{
"begin_idx": "58",
"end_idx": "116",
"entity_id": "C536141",
"entity_type": "Disease",
"text_name": "Megalencephalic leukoencephalopathy with subcortical cysts"
},
{
"begin_idx": "118",
"end_idx": "176",
"entity_id": "C536141",
"entity_type": "Disease",
"text_name": "Me... | {
"begin_idx": "37",
"end_idx": "41",
"entity_id": "23209",
"entity_type": "Gene",
"text_name": "MLC1"
} | {
"begin_idx": "58",
"end_idx": "116",
"entity_id": "C536141",
"entity_type": "Disease",
"text_name": "Megalencephalic leukoencephalopathy with subcortical cysts"
} | Yes |
11935341 | Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. | Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an inherited neurologic disorder with macrocephaly before the age of one and slowly progressive deterioration of motor functions. Magnetic resonance imaging shows diffusely abnormal and swollen white matter of the cerebral hemispheres and the presence... | Identification of novel mutations in /"MLC1"/ responsible for megalencephalic leukoencephalopathy with subcortical cysts. | Megalencephalic leukoencephalopathy with subcortical cysts (/"MLC"/) is an inherited /"neurologic disorder"/ with macrocephaly before the age of one and slowly progressive deterioration of motor functions. Magnetic resonance imaging shows diffusely abnormal and swollen white matter of the cerebral hemispheres and the ... | [
{
"begin_idx": "58",
"end_idx": "116",
"entity_id": "C536141",
"entity_type": "Disease",
"text_name": "Megalencephalic leukoencephalopathy with subcortical cysts"
},
{
"begin_idx": "118",
"end_idx": "176",
"entity_id": "C536141",
"entity_type": "Disease",
"text_name": "Me... | {
"begin_idx": "897",
"end_idx": "901",
"entity_id": "23209",
"entity_type": "Gene",
"text_name": "MLC1"
} | {
"begin_idx": "199",
"end_idx": "218",
"entity_id": "D009422",
"entity_type": "Disease",
"text_name": "neurologic disorder"
} | No |
11939812 | Is the loose anagen hair syndrome a keratin disorder? A clinical and molecular study. | OBJECTIVES: To report the clinical features of the loose anagen hair syndrome and to test the hypothesis that the typical gap between the hair and the inner root sheath may result from hereditary defects in the inner root sheath or the apposed companion layer. DESIGN: Case series. SETTING: A pediatric dermatology unit... | Is the /"loose anagen hair syndrome"/ a keratin disorder? A clinical and molecular study. | OBJECTIVES: To report the clinical features of the /"loose anagen hair syndrome"/ and to test the hypothesis that the typical gap between the hair and the inner root sheath may result from hereditary defects in the inner root sheath or the apposed companion layer. DESIGN: Case series. SETTING: A pediatric dermatology ... | [
{
"begin_idx": "973",
"end_idx": "983",
"entity_id": "D000848",
"entity_type": "Disease",
"text_name": "hypodontia"
},
{
"begin_idx": "866",
"end_idx": "878",
"entity_id": "D007249",
"entity_type": "Disease",
"text_name": "inflammation"
},
{
"begin_idx": "36",
... | {
"begin_idx": "572",
"end_idx": "576",
"entity_id": "9119",
"entity_type": "Gene",
"text_name": "K6HF"
} | {
"begin_idx": "7",
"end_idx": "33",
"entity_id": "D058247",
"entity_type": "Disease",
"text_name": "loose anagen hair syndrome"
} | Yes |
11939812 | Is the loose anagen hair syndrome a keratin disorder? A clinical and molecular study. | OBJECTIVES: To report the clinical features of the loose anagen hair syndrome and to test the hypothesis that the typical gap between the hair and the inner root sheath may result from hereditary defects in the inner root sheath or the apposed companion layer. DESIGN: Case series. SETTING: A pediatric dermatology unit... | Is the loose anagen hair syndrome a /"keratin disorder"/? A clinical and molecular study. | OBJECTIVES: To report the clinical features of the loose anagen hair syndrome and to test the hypothesis that the typical gap between the hair and the inner root sheath may result from /"hereditary defects"/ in the inner root sheath or the apposed companion layer. DESIGN: Case series. SETTING: A pediatric dermatology ... | [
{
"begin_idx": "973",
"end_idx": "983",
"entity_id": "D000848",
"entity_type": "Disease",
"text_name": "hypodontia"
},
{
"begin_idx": "866",
"end_idx": "878",
"entity_id": "D007249",
"entity_type": "Disease",
"text_name": "inflammation"
},
{
"begin_idx": "36",
... | {
"begin_idx": "1825",
"end_idx": "1829",
"entity_id": "9119",
"entity_type": "Gene",
"text_name": "K6hf"
} | {
"begin_idx": "271",
"end_idx": "289",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "hereditary defects"
} | No |
11942593 | Polymorphisms in beta-adrenergic receptor genes in the acquired long QT syndrome. | INTRODUCTION: Sympathetic activation is a trigger for life-threatening arrhythmias in many patients with the congenital long QT syndrome (LQTS), and an increase in heart rate has been reported just prior to torsades de pointes in patients with drug-associated (acquired) LQTS (aLQTS). We compared the frequencies of fiv... | Polymorphisms in beta-adrenergic receptor genes in the acquired /"long QT syndrome"/. | INTRODUCTION: Sympathetic activation is a trigger for life-threatening arrhythmias in many patients with the /"congenital long QT syndrome"/ (/"LQTS"/), and an increase in heart rate has been reported just prior to torsades de pointes in patients with drug-associated (acquired) /"LQTS"/ (aLQTS). We compared the freque... | [
{
"begin_idx": "153",
"end_idx": "164",
"entity_id": "D001145",
"entity_type": "Disease",
"text_name": "arrhythmias"
},
{
"begin_idx": "64",
"end_idx": "80",
"entity_id": "D008133",
"entity_type": "Disease",
"text_name": "long QT syndrome"
},
{
"begin_idx": "191",... | {
"begin_idx": "987",
"end_idx": "995",
"entity_id": "153",
"entity_type": "Gene",
"text_name": "beta1-AR"
} | {
"begin_idx": "191",
"end_idx": "218",
"entity_id": "D008133",
"entity_type": "Disease",
"text_name": "congenital long QT syndrome"
} | Yes |
11942593 | Polymorphisms in beta-adrenergic receptor genes in the acquired long QT syndrome. | INTRODUCTION: Sympathetic activation is a trigger for life-threatening arrhythmias in many patients with the congenital long QT syndrome (LQTS), and an increase in heart rate has been reported just prior to torsades de pointes in patients with drug-associated (acquired) LQTS (aLQTS). We compared the frequencies of fiv... | Polymorphisms in beta-adrenergic receptor genes in the acquired /"long QT syndrome"/. | INTRODUCTION: Sympathetic activation is a trigger for life-threatening arrhythmias in many patients with the /"congenital long QT syndrome"/ (/"LQTS"/), and an increase in heart rate has been reported just prior to torsades de pointes in patients with drug-associated (acquired) /"LQTS"/ (aLQTS). We compared the freque... | [
{
"begin_idx": "153",
"end_idx": "164",
"entity_id": "D001145",
"entity_type": "Disease",
"text_name": "arrhythmias"
},
{
"begin_idx": "64",
"end_idx": "80",
"entity_id": "D008133",
"entity_type": "Disease",
"text_name": "long QT syndrome"
},
{
"begin_idx": "191",... | {
"begin_idx": "1012",
"end_idx": "1020",
"entity_id": "154",
"entity_type": "Gene",
"text_name": "beta2-AR"
} | {
"begin_idx": "191",
"end_idx": "218",
"entity_id": "D008133",
"entity_type": "Disease",
"text_name": "congenital long QT syndrome"
} | Yes |
11942593 | Polymorphisms in beta-adrenergic receptor genes in the acquired long QT syndrome. | INTRODUCTION: Sympathetic activation is a trigger for life-threatening arrhythmias in many patients with the congenital long QT syndrome (LQTS), and an increase in heart rate has been reported just prior to torsades de pointes in patients with drug-associated (acquired) LQTS (aLQTS). We compared the frequencies of fiv... | Polymorphisms in beta-adrenergic receptor genes in the acquired long QT syndrome. | INTRODUCTION: Sympathetic activation is a trigger for life-threatening arrhythmias in many patients with the congenital long QT syndrome (LQTS), and an increase in heart rate has been reported just prior to /"torsades de pointes"/ in patients with drug-associated (acquired) LQTS (aLQTS). We compared the frequencies of... | [
{
"begin_idx": "153",
"end_idx": "164",
"entity_id": "D001145",
"entity_type": "Disease",
"text_name": "arrhythmias"
},
{
"begin_idx": "64",
"end_idx": "80",
"entity_id": "D008133",
"entity_type": "Disease",
"text_name": "long QT syndrome"
},
{
"begin_idx": "191",... | {
"begin_idx": "1340",
"end_idx": "1348",
"entity_id": "154",
"entity_type": "Gene",
"text_name": "beta2-AR"
} | {
"begin_idx": "1864",
"end_idx": "1883",
"entity_id": "D016171",
"entity_type": "Disease",
"text_name": "torsades de pointes"
} | No |
11942593 | Polymorphisms in beta-adrenergic receptor genes in the acquired long QT syndrome. | INTRODUCTION: Sympathetic activation is a trigger for life-threatening arrhythmias in many patients with the congenital long QT syndrome (LQTS), and an increase in heart rate has been reported just prior to torsades de pointes in patients with drug-associated (acquired) LQTS (aLQTS). We compared the frequencies of fiv... | Polymorphisms in beta-adrenergic receptor genes in the acquired long QT syndrome. | INTRODUCTION: Sympathetic activation is a trigger for life-threatening /"arrhythmias"/ in many patients with the congenital long QT syndrome (LQTS), and an increase in heart rate has been reported just prior to torsades de pointes in patients with drug-associated (acquired) LQTS (aLQTS). We compared the frequencies of... | [
{
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"end_idx": "164",
"entity_id": "D001145",
"entity_type": "Disease",
"text_name": "arrhythmias"
},
{
"begin_idx": "64",
"end_idx": "80",
"entity_id": "D008133",
"entity_type": "Disease",
"text_name": "long QT syndrome"
},
{
"begin_idx": "191",... | {
"begin_idx": "1096",
"end_idx": "1104",
"entity_id": "154",
"entity_type": "Gene",
"text_name": "beta2-AR"
} | {
"begin_idx": "153",
"end_idx": "164",
"entity_id": "D001145",
"entity_type": "Disease",
"text_name": "arrhythmias"
} | No |
11948460 | Germline mutations in E-cadherin do not explain association of hereditary prostate cancer, gastric cancer and breast cancer. | Somatic mutations in the E-cadherin (CDH1) gene have frequently been reported in cases with diffuse gastric and lobular breast cancers. Recently, germline mutations have been identified in families with diffuse gastric cancers. In families with hereditary prostate cancer (HPC), a significant association of prostate ca... | Germline mutations in /"E-cadherin"/ do not explain association of /"hereditary prostate cancer"/, gastric cancer and breast cancer. | Somatic mutations in the /"E-cadherin"/ (/"CDH1"/) gene have frequently been reported in cases with diffuse gastric and lobular breast cancers. Recently, germline mutations have been identified in families with diffuse gastric cancers. In families with /"hereditary prostate cancer"/ (/"HPC"/), a significant associatio... | [
{
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"end_idx": "123",
"entity_id": "D001943",
"entity_type": "Disease",
"text_name": "breast cancer"
},
{
"begin_idx": "450",
"end_idx": "478",
"entity_id": "D001943",
"entity_type": "Disease",
"text_name": "gastric and/or breast cancer"
},
{
"be... | {
"begin_idx": "22",
"end_idx": "32",
"entity_id": "999",
"entity_type": "Gene",
"text_name": "E-cadherin"
} | {
"begin_idx": "2152",
"end_idx": "2190",
"entity_id": "D011471",
"entity_type": "Disease",
"text_name": "hereditary or sporadic prostate cancer"
} | Yes |
11948460 | Germline mutations in E-cadherin do not explain association of hereditary prostate cancer, gastric cancer and breast cancer. | Somatic mutations in the E-cadherin (CDH1) gene have frequently been reported in cases with diffuse gastric and lobular breast cancers. Recently, germline mutations have been identified in families with diffuse gastric cancers. In families with hereditary prostate cancer (HPC), a significant association of prostate ca... | Germline mutations in /"E-cadherin"/ do not explain association of hereditary prostate cancer, gastric cancer and /"breast cancer"/. | Somatic mutations in the /"E-cadherin"/ (/"CDH1"/) gene have frequently been reported in cases with diffuse gastric and lobular breast cancers. Recently, germline mutations have been identified in families with diffuse gastric cancers. In families with hereditary prostate cancer (HPC), a significant association of pro... | [
{
"begin_idx": "110",
"end_idx": "123",
"entity_id": "D001943",
"entity_type": "Disease",
"text_name": "breast cancer"
},
{
"begin_idx": "450",
"end_idx": "478",
"entity_id": "D001943",
"entity_type": "Disease",
"text_name": "gastric and/or breast cancer"
},
{
"be... | {
"begin_idx": "591",
"end_idx": "595",
"entity_id": "999",
"entity_type": "Gene",
"text_name": "CDH1"
} | {
"begin_idx": "450",
"end_idx": "478",
"entity_id": "D001943",
"entity_type": "Disease",
"text_name": "gastric and/or breast cancer"
} | No |
11951178 | Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene. | Mutations in the copper/zinc superoxide dismutase 1 (SOD-1) gene are found in approximately 20% of patients with familial amyotrophic lateral sclerosis (FALS), or amyotrophic lateral sclerosis 1. Here we describe a 25-year-old male patient who died from FALS after a rapid disease course of 11 mo. Sequencing of the SOD... | Early onset of severe /"familial amyotrophic lateral sclerosis"/ with a SOD-1 mutation: potential impact of /"CNTF"/ as a candidate modifier gene. | Mutations in the copper/zinc superoxide dismutase 1 (SOD-1) gene are found in approximately 20% of patients with /"familial amyotrophic lateral sclerosis"/ (/"FALS"/), or amyotrophic lateral sclerosis 1. Here we describe a 25-year-old male patient who died from /"FALS"/ after a rapid disease course of 11 mo. Sequencin... | [
{
"begin_idx": "22",
"end_idx": "60",
"entity_id": "C531617",
"entity_type": "Disease",
"text_name": "familial amyotrophic lateral sclerosis"
},
{
"begin_idx": "252",
"end_idx": "290",
"entity_id": "C531617",
"entity_type": "Disease",
"text_name": "familial amyotrophic la... | {
"begin_idx": "104",
"end_idx": "108",
"entity_id": "1270",
"entity_type": "Gene",
"text_name": "CNTF"
} | {
"begin_idx": "22",
"end_idx": "60",
"entity_id": "C531617",
"entity_type": "Disease",
"text_name": "familial amyotrophic lateral sclerosis"
} | Yes |
11951178 | Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene. | Mutations in the copper/zinc superoxide dismutase 1 (SOD-1) gene are found in approximately 20% of patients with familial amyotrophic lateral sclerosis (FALS), or amyotrophic lateral sclerosis 1. Here we describe a 25-year-old male patient who died from FALS after a rapid disease course of 11 mo. Sequencing of the SOD... | Early onset of severe /"familial amyotrophic lateral sclerosis"/ with a /"SOD-1"/ mutation: potential impact of CNTF as a candidate modifier gene. | Mutations in the copper/zinc superoxide dismutase 1 (/"SOD-1"/) gene are found in approximately 20% of patients with /"familial amyotrophic lateral sclerosis"/ (/"FALS"/), or amyotrophic lateral sclerosis 1. Here we describe a 25-year-old male patient who died from /"FALS"/ after a rapid disease course of 11 mo. Seque... | [
{
"begin_idx": "22",
"end_idx": "60",
"entity_id": "C531617",
"entity_type": "Disease",
"text_name": "familial amyotrophic lateral sclerosis"
},
{
"begin_idx": "252",
"end_idx": "290",
"entity_id": "C531617",
"entity_type": "Disease",
"text_name": "familial amyotrophic la... | {
"begin_idx": "68",
"end_idx": "73",
"entity_id": "6647",
"entity_type": "Gene",
"text_name": "SOD-1"
} | {
"begin_idx": "22",
"end_idx": "60",
"entity_id": "C531617",
"entity_type": "Disease",
"text_name": "familial amyotrophic lateral sclerosis"
} | Yes |
11951178 | Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene. | Mutations in the copper/zinc superoxide dismutase 1 (SOD-1) gene are found in approximately 20% of patients with familial amyotrophic lateral sclerosis (FALS), or amyotrophic lateral sclerosis 1. Here we describe a 25-year-old male patient who died from FALS after a rapid disease course of 11 mo. Sequencing of the SOD... | Early onset of severe familial amyotrophic lateral sclerosis with a /"SOD-1"/ mutation: potential impact of CNTF as a candidate modifier gene. | Mutations in the copper/zinc superoxide dismutase 1 (/"SOD-1"/) gene are found in approximately 20% of patients with familial amyotrophic lateral sclerosis (FALS), or /"amyotrophic lateral sclerosis"/ 1. Here we describe a 25-year-old male patient who died from FALS after a rapid disease course of 11 mo. Sequencing of... | [
{
"begin_idx": "22",
"end_idx": "60",
"entity_id": "C531617",
"entity_type": "Disease",
"text_name": "familial amyotrophic lateral sclerosis"
},
{
"begin_idx": "252",
"end_idx": "290",
"entity_id": "C531617",
"entity_type": "Disease",
"text_name": "familial amyotrophic la... | {
"begin_idx": "192",
"end_idx": "197",
"entity_id": "6647",
"entity_type": "Gene",
"text_name": "SOD-1"
} | {
"begin_idx": "1609",
"end_idx": "1638",
"entity_id": "D000690",
"entity_type": "Disease",
"text_name": "amyotrophic lateral sclerosis"
} | No |
11951178 | Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene. | Mutations in the copper/zinc superoxide dismutase 1 (SOD-1) gene are found in approximately 20% of patients with familial amyotrophic lateral sclerosis (FALS), or amyotrophic lateral sclerosis 1. Here we describe a 25-year-old male patient who died from FALS after a rapid disease course of 11 mo. Sequencing of the SOD... | Early onset of severe familial amyotrophic lateral sclerosis with a /"SOD-1"/ mutation: potential impact of CNTF as a candidate modifier gene. | Mutations in the copper/zinc superoxide dismutase 1 (/"SOD-1"/) gene are found in approximately 20% of patients with familial amyotrophic lateral sclerosis (FALS), or amyotrophic lateral sclerosis 1. Here we describe a 25-year-old male patient who died from FALS after a rapid disease course of 11 mo. Sequencing of the... | [
{
"begin_idx": "22",
"end_idx": "60",
"entity_id": "C531617",
"entity_type": "Disease",
"text_name": "familial amyotrophic lateral sclerosis"
},
{
"begin_idx": "252",
"end_idx": "290",
"entity_id": "C531617",
"entity_type": "Disease",
"text_name": "familial amyotrophic la... | {
"begin_idx": "1234",
"end_idx": "1239",
"entity_id": "6647",
"entity_type": "Gene",
"text_name": "SOD-1"
} | {
"begin_idx": "1290",
"end_idx": "1308",
"entity_id": "D004194",
"entity_type": "Disease",
"text_name": "motoneuron disease"
} | No |
11976977 | Occurrence of factor V Leiden mutation (Arg506Gln) and anticardiolipin antibodies in migraine patients. | The occurrences of factor V Leiden mutation (Arg506Gln) and antiphospholipid antibodies (APA) in migraine patients have been reported, but the findings are controversial. We investigated the presence of factor V Leiden and the serum level of anticardiolipin antibodies (aCL) in a consecutive series of 70 migraine patie... | Occurrence of /"factor V Leiden"/ mutation (Arg506Gln) and anticardiolipin antibodies in /"migraine"/ patients. | The occurrences of /"factor V Leiden"/ mutation (Arg506Gln) and antiphospholipid antibodies (APA) in /"migraine"/ patients have been reported, but the findings are controversial. We investigated the presence of /"factor V Leiden"/ and the serum level of anticardiolipin antibodies (aCL) in a consecutive series of 70 /"... | [
{
"begin_idx": "85",
"end_idx": "93",
"entity_id": "D008881",
"entity_type": "Disease",
"text_name": "migraine"
},
{
"begin_idx": "201",
"end_idx": "209",
"entity_id": "D008881",
"entity_type": "Disease",
"text_name": "migraine"
},
{
"begin_idx": "409",
"end_i... | {
"begin_idx": "14",
"end_idx": "29",
"entity_id": "2153",
"entity_type": "Gene",
"text_name": "factor V Leiden"
} | {
"begin_idx": "85",
"end_idx": "93",
"entity_id": "D008881",
"entity_type": "Disease",
"text_name": "migraine"
} | Yes |
11976977 | Occurrence of factor V Leiden mutation (Arg506Gln) and anticardiolipin antibodies in migraine patients. | The occurrences of factor V Leiden mutation (Arg506Gln) and antiphospholipid antibodies (APA) in migraine patients have been reported, but the findings are controversial. We investigated the presence of factor V Leiden and the serum level of anticardiolipin antibodies (aCL) in a consecutive series of 70 migraine patie... | Occurrence of /"factor V Leiden"/ mutation (Arg506Gln) and anticardiolipin antibodies in migraine patients. | The occurrences of /"factor V Leiden"/ mutation (Arg506Gln) and antiphospholipid antibodies (APA) in migraine patients have been reported, but the findings are controversial. We investigated the presence of /"factor V Leiden"/ and the serum level of anticardiolipin antibodies (aCL) in a consecutive series of 70 migrai... | [
{
"begin_idx": "85",
"end_idx": "93",
"entity_id": "D008881",
"entity_type": "Disease",
"text_name": "migraine"
},
{
"begin_idx": "201",
"end_idx": "209",
"entity_id": "D008881",
"entity_type": "Disease",
"text_name": "migraine"
},
{
"begin_idx": "409",
"end_i... | {
"begin_idx": "123",
"end_idx": "138",
"entity_id": "2153",
"entity_type": "Gene",
"text_name": "factor V Leiden"
} | {
"begin_idx": "487",
"end_idx": "505",
"entity_id": "D020325",
"entity_type": "Disease",
"text_name": "migraine with aura"
} | No |
11992567 | Effect of IL-6 polymorphism on risk of Alzheimer disease: genotype-phenotype association study in Japanese cases. | Interleukin-6 (IL-6), an inflammatory cytokine might be involved in the pathophysiology of Alzheimer disease (AD); several studies have reported that the "C allele of IL-6 variable number of tandem repeat polymorphism" (IL-6vntr) delayed initial onset of AD and also decreased its risk per se. Another polymorphism, G/C... | Effect of /"IL-6"/ polymorphism on risk of /"Alzheimer disease"/: genotype-phenotype association study in Japanese cases. | /"Interleukin-6"/ (/"IL-6"/), an inflammatory cytokine might be involved in the pathophysiology of /"Alzheimer disease"/ (/"AD"/); several studies have reported that the "C allele of /"IL-6"/ variable number of tandem repeat polymorphism" (IL-6vntr) delayed initial onset of /"AD"/ and also decreased its risk per se. A... | [
{
"begin_idx": "39",
"end_idx": "56",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer disease"
},
{
"begin_idx": "205",
"end_idx": "222",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer disease"
},
{
"begin_idx":... | {
"begin_idx": "114",
"end_idx": "127",
"entity_id": "3569",
"entity_type": "Gene",
"text_name": "Interleukin-6"
} | {
"begin_idx": "39",
"end_idx": "56",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer disease"
} | Yes |
11992568 | No association between DCP1 genotype and late-onset Alzheimer disease. | In a study of 261 patients with Alzheimer disease (AD) and 306 cognitively normal control subjects from Germany, Switzerland, and Italy, we found no association between genotype counts or allelic frequencies of DCP1, the gene encoding angiotensin-converting enzyme. In accordance with several other studies, our data co... | No association between /"DCP1"/ genotype and late-onset /"Alzheimer disease"/. | In a study of 261 patients with /"Alzheimer disease"/ (/"AD"/) and 306 cognitively normal control subjects from Germany, Switzerland, and Italy, we found no association between genotype counts or allelic frequencies of /"DCP1"/, the gene encoding /"angiotensin-converting enzyme"/. In accordance with several other stud... | [
{
"begin_idx": "52",
"end_idx": "69",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer disease"
},
{
"begin_idx": "103",
"end_idx": "120",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer disease"
},
{
"begin_idx":... | {
"begin_idx": "306",
"end_idx": "335",
"entity_id": "1636",
"entity_type": "Gene",
"text_name": "angiotensin-converting enzyme"
} | {
"begin_idx": "52",
"end_idx": "69",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer disease"
} | Yes |
11992568 | No association between DCP1 genotype and late-onset Alzheimer disease. | In a study of 261 patients with Alzheimer disease (AD) and 306 cognitively normal control subjects from Germany, Switzerland, and Italy, we found no association between genotype counts or allelic frequencies of DCP1, the gene encoding angiotensin-converting enzyme. In accordance with several other studies, our data co... | No association between /"DCP1"/ genotype and late-onset Alzheimer disease. | In a study of 261 patients with Alzheimer disease (AD) and 306 cognitively normal control subjects from Germany, Switzerland, and Italy, we found no association between genotype counts or allelic frequencies of /"DCP1"/, the gene encoding /"angiotensin-converting enzyme"/. In accordance with several other studies, our... | [
{
"begin_idx": "52",
"end_idx": "69",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer disease"
},
{
"begin_idx": "103",
"end_idx": "120",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer disease"
},
{
"begin_idx":... | {
"begin_idx": "915",
"end_idx": "919",
"entity_id": "1636",
"entity_type": "Gene",
"text_name": "DCP1"
} | {
"begin_idx": "523",
"end_idx": "540",
"entity_id": "D003072",
"entity_type": "Disease",
"text_name": "cognitive decline"
} | No |
12000493 | Thromboxane A2 receptor gene polymorphism is associated with the serum concentration of cat-specific immunoglobulin E as well as the development and severity of asthma in Chinese children. | Thromboxane A2 and its receptor (TBXA2R) are involved in the constriction of vascular and respiratory smooth muscles. The T924C polymorphism in the TBXA2R gene was recently found to be associated with asthma in Japanese adults but not in children. Its relationship with atopy or asthma severity in children has not been... | Thromboxane A2 receptor gene polymorphism is associated with the serum concentration of cat-specific immunoglobulin E as well as the development and severity of /"asthma"/ in Chinese children. | Thromboxane A2 and its receptor (/"TBXA2R"/) are involved in the constriction of vascular and respiratory smooth muscles. The T924C polymorphism in the /"TBXA2R"/ gene was recently found to be associated with /"asthma"/ in Japanese adults but not in children. Its relationship with atopy or /"asthma"/ severity in child... | [
{
"begin_idx": "459",
"end_idx": "464",
"entity_id": "C564133",
"entity_type": "Disease",
"text_name": "atopy"
},
{
"begin_idx": "1347",
"end_idx": "1360",
"entity_id": "C565292",
"entity_type": "Disease",
"text_name": "atopic asthma"
},
{
"begin_idx": "2022",
... | {
"begin_idx": "222",
"end_idx": "228",
"entity_id": "6915",
"entity_type": "Gene",
"text_name": "TBXA2R"
} | {
"begin_idx": "161",
"end_idx": "167",
"entity_id": "D001249",
"entity_type": "Disease",
"text_name": "asthma"
} | Yes |
12000493 | Thromboxane A2 receptor gene polymorphism is associated with the serum concentration of cat-specific immunoglobulin E as well as the development and severity of asthma in Chinese children. | Thromboxane A2 and its receptor (TBXA2R) are involved in the constriction of vascular and respiratory smooth muscles. The T924C polymorphism in the TBXA2R gene was recently found to be associated with asthma in Japanese adults but not in children. Its relationship with atopy or asthma severity in children has not been... | Thromboxane A2 receptor gene polymorphism is associated with the serum concentration of cat-specific immunoglobulin E as well as the development and severity of asthma in Chinese children. | Thromboxane A2 and its receptor (/"TBXA2R"/) are involved in the constriction of vascular and respiratory smooth muscles. The T924C polymorphism in the /"TBXA2R"/ gene was recently found to be associated with asthma in Japanese adults but not in children. Its relationship with atopy or asthma severity in children has ... | [
{
"begin_idx": "459",
"end_idx": "464",
"entity_id": "C564133",
"entity_type": "Disease",
"text_name": "atopy"
},
{
"begin_idx": "1347",
"end_idx": "1360",
"entity_id": "C565292",
"entity_type": "Disease",
"text_name": "atopic asthma"
},
{
"begin_idx": "2022",
... | {
"begin_idx": "1927",
"end_idx": "1933",
"entity_id": "6915",
"entity_type": "Gene",
"text_name": "TBXA2R"
} | {
"begin_idx": "953",
"end_idx": "962",
"entity_id": "D013224",
"entity_type": "Disease",
"text_name": "asthmatic"
} | No |
12006918 | Hepatic lipase gene -514 C/T polymorphism and premature coronary heart disease. | BACKGROUND: A common polymorphism in the hepatic lipase (HL) gene promoter, -514C/T, affecting enzyme activity, has been associated with alterations in plasma lipoprotein levels. However a relationship with coronary heart disease (CHD) is less well documented. DESIGN AND METHODS: We studied HL -514 C/T in 562 Caucasia... | /"Hepatic lipase"/ gene -514 C/T polymorphism and premature /"coronary heart disease"/. | BACKGROUND: A common polymorphism in the /"hepatic lipase"/ (/"HL"/) gene promoter, -514C/T, affecting enzyme activity, has been associated with alterations in plasma lipoprotein levels. However a relationship with /"coronary heart disease"/ (/"CHD"/) is less well documented. DESIGN AND METHODS: We studied /"HL"/ -514... | [
{
"begin_idx": "56",
"end_idx": "78",
"entity_id": "D003327",
"entity_type": "Disease",
"text_name": "coronary heart disease"
},
{
"begin_idx": "287",
"end_idx": "309",
"entity_id": "D003327",
"entity_type": "Disease",
"text_name": "coronary heart disease"
},
{
"b... | {
"begin_idx": "0",
"end_idx": "14",
"entity_id": "3990",
"entity_type": "Gene",
"text_name": "Hepatic lipase"
} | {
"begin_idx": "56",
"end_idx": "78",
"entity_id": "D003327",
"entity_type": "Disease",
"text_name": "coronary heart disease"
} | Yes |
12007670 | ApoE genotype influences the biological effect of donepezil on APP metabolism in Alzheimer disease: evidence from a peripheral model. | Three major amyloid precursor protein (APP) forms with apparent molecular weight ranging from 106 to 130 kDa are present in human platelets. Alzheimer disease (AD) is associated with a decreased APP forms ratio (APPr) between the three major forms. A total of 25 mild to moderate AD patients were investigated. Platelet... | /"ApoE"/ genotype influences the biological effect of donepezil on APP metabolism in /"Alzheimer disease"/: evidence from a peripheral model. | Three major amyloid precursor protein (APP) forms with apparent molecular weight ranging from 106 to 130 kDa are present in human platelets. /"Alzheimer disease"/ (/"AD"/) is associated with a decreased APP forms ratio (APPr) between the three major forms. A total of 25 mild to moderate /"AD"/ patients were investigat... | [
{
"begin_idx": "81",
"end_idx": "98",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer disease"
},
{
"begin_idx": "275",
"end_idx": "292",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer disease"
},
{
"begin_idx":... | {
"begin_idx": "649",
"end_idx": "665",
"entity_id": "348",
"entity_type": "Gene",
"text_name": "apolipoprotein E"
} | {
"begin_idx": "81",
"end_idx": "98",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer disease"
} | Yes |
12010932 | Evidence for association of a common variant of the endothelial nitric oxide synthase gene (Glu298-->Asp polymorphism) to the presence, extent, and severity of coronary artery disease. | BACKGROUND: Genetic variants of endothelial nitric oxide synthase (eNOS) could influence individual susceptibility to coronary artery disease. OBJECTIVE: To assess whether Glu298-->Asp polymorphism of the eNOS gene is associated with the occurrence and severity of angiographically defined coronary artery disease in th... | Evidence for association of a common variant of the /"endothelial nitric oxide synthase"/ gene (Glu298-->Asp polymorphism) to the presence, extent, and severity of /"coronary artery disease"/. | BACKGROUND: Genetic variants of /"endothelial nitric oxide synthase"/ (/"eNOS"/) could influence individual susceptibility to /"coronary artery disease"/. OBJECTIVE: To assess whether Glu298-->Asp polymorphism of the /"eNOS"/ gene is associated with the occurrence and severity of angiographically defined /"coronary ar... | [
{
"begin_idx": "160",
"end_idx": "183",
"entity_id": "D003324",
"entity_type": "Disease",
"text_name": "coronary artery disease"
},
{
"begin_idx": "303",
"end_idx": "326",
"entity_id": "D003324",
"entity_type": "Disease",
"text_name": "coronary artery disease"
},
{
... | {
"begin_idx": "52",
"end_idx": "85",
"entity_id": "4846",
"entity_type": "Gene",
"text_name": "endothelial nitric oxide synthase"
} | {
"begin_idx": "160",
"end_idx": "183",
"entity_id": "D003324",
"entity_type": "Disease",
"text_name": "coronary artery disease"
} | Yes |
12028996 | Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia. | BACKGROUND: Congenital adrenal hyperplasia (CAH) is a frequent autosomal recessive disease, with a wide range of clinical manifestations, most commonly attributable to mutations in the 21-hydroxylase gene (CYP21). Large gene deletions, large gene conversions, a small 8-basepair deletion, and eight point mutations in C... | Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm /"congenital adrenal hyperplasia"/. | BACKGROUND: /"Congenital adrenal hyperplasia"/ (/"CAH"/) is a frequent autosomal recessive disease, with a wide range of clinical manifestations, most commonly attributable to mutations in the 21-hydroxylase gene (/"CYP21"/). Large gene deletions, large gene conversions, a small 8-basepair deletion, and eight point mu... | [
{
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"end_idx": "113",
"entity_id": "D000312",
"entity_type": "Disease",
"text_name": "congenital adrenal hyperplasia"
},
{
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"end_idx": "157",
"entity_id": "D000312",
"entity_type": "Disease",
"text_name": "Congenital adrenal hyperplasia... | {
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"end_idx": "326",
"entity_id": "1589",
"entity_type": "Gene",
"text_name": "CYP21"
} | {
"begin_idx": "83",
"end_idx": "113",
"entity_id": "D000312",
"entity_type": "Disease",
"text_name": "congenital adrenal hyperplasia"
} | Yes |
12028996 | Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia. | BACKGROUND: Congenital adrenal hyperplasia (CAH) is a frequent autosomal recessive disease, with a wide range of clinical manifestations, most commonly attributable to mutations in the 21-hydroxylase gene (CYP21). Large gene deletions, large gene conversions, a small 8-basepair deletion, and eight point mutations in C... | Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia. | BACKGROUND: Congenital adrenal hyperplasia (CAH) is a frequent /"autosomal recessive disease"/, with a wide range of clinical manifestations, most commonly attributable to mutations in the 21-hydroxylase gene (/"CYP21"/). Large gene deletions, large gene conversions, a small 8-basepair deletion, and eight point mutati... | [
{
"begin_idx": "83",
"end_idx": "113",
"entity_id": "D000312",
"entity_type": "Disease",
"text_name": "congenital adrenal hyperplasia"
},
{
"begin_idx": "127",
"end_idx": "157",
"entity_id": "D000312",
"entity_type": "Disease",
"text_name": "Congenital adrenal hyperplasia... | {
"begin_idx": "537",
"end_idx": "542",
"entity_id": "1589",
"entity_type": "Gene",
"text_name": "CYP21"
} | {
"begin_idx": "178",
"end_idx": "205",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "autosomal recessive disease"
} | No |
12032588 | Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B. | Mutations in the LMNA gene encoding lamins A and C by alternative splicing have been found to cause at least four different kinds of genetic disorders: autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2; MIM 181350); limb-girdle muscular dystrophy type 1B (LGMD1B; MIM 159001); dilated cardiomyopathy type 1A (... | Identification of /"lamin A/C"/ ( /"LMNA"/) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and /"limb-girdle muscular dystrophy"/ 1B. | Mutations in the /"LMNA"/ gene encoding lamins A and C by alternative splicing have been found to cause at least four different kinds of genetic disorders: autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2; MIM 181350); limb-girdle muscular dystrophy type 1B (LGMD1B; MIM 159001); dilated cardiomyopathy type ... | [
{
"begin_idx": "393",
"end_idx": "431",
"entity_id": "C535898",
"entity_type": "Disease",
"text_name": "limb-girdle muscular dystrophy type 1B"
},
{
"begin_idx": "433",
"end_idx": "439",
"entity_id": "C535898",
"entity_type": "Disease",
"text_name": "LGMD1B"
},
{
... | {
"begin_idx": "18",
"end_idx": "27",
"entity_id": "4000",
"entity_type": "Gene",
"text_name": "lamin A/C"
} | {
"begin_idx": "132",
"end_idx": "162",
"entity_id": "D049288",
"entity_type": "Disease",
"text_name": "limb-girdle muscular dystrophy"
} | Yes |
12032588 | Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B. | Mutations in the LMNA gene encoding lamins A and C by alternative splicing have been found to cause at least four different kinds of genetic disorders: autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2; MIM 181350); limb-girdle muscular dystrophy type 1B (LGMD1B; MIM 159001); dilated cardiomyopathy type 1A (... | Identification of /"lamin A/C"/ ( /"LMNA"/) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B. | Mutations in the /"LMNA"/ gene encoding lamins A and C by alternative splicing have been found to cause at least four different kinds of genetic disorders: autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2; MIM 181350); limb-girdle muscular dystrophy type 1B (LGMD1B; MIM 159001); dilated cardiomyopathy type ... | [
{
"begin_idx": "393",
"end_idx": "431",
"entity_id": "C535898",
"entity_type": "Disease",
"text_name": "limb-girdle muscular dystrophy type 1B"
},
{
"begin_idx": "433",
"end_idx": "439",
"entity_id": "C535898",
"entity_type": "Disease",
"text_name": "LGMD1B"
},
{
... | {
"begin_idx": "486",
"end_idx": "491",
"entity_id": "4000",
"entity_type": "Gene",
"text_name": "CMD1A"
} | {
"begin_idx": "542",
"end_idx": "546",
"entity_id": "D052496",
"entity_type": "Disease",
"text_name": "FPLD"
} | No |
12034804 | Are interleukin-1 gene polymorphisms risk factors or disease modifiers in AD? | Polymorphisms in the interleukin-1 genes, IL-1A and IL-1B, have been associated with AD, but not in all studies. The authors genotyped the IL-1A(-889) and IL-1B(-511) polymorphisms in large independent cohorts of 503 control individuals and 395 patients with AD, and a further 100 with brain Abeta load. No evidence was... | Are interleukin-1 gene polymorphisms risk factors or disease modifiers in /"AD"/? | Polymorphisms in the interleukin-1 genes, IL-1A and /"IL-1B"/, have been associated with /"AD"/, but not in all studies. The authors genotyped the IL-1A(-889) and /"IL-1B"/(-511) polymorphisms in large independent cohorts of 503 control individuals and 395 patients with /"AD"/, and a further 100 with brain Abeta load.... | [
{
"begin_idx": "74",
"end_idx": "76",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "AD"
},
{
"begin_idx": "163",
"end_idx": "165",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "AD"
},
{
"begin_idx": "337",
"end_idx": "339",
... | {
"begin_idx": "130",
"end_idx": "135",
"entity_id": "3553",
"entity_type": "Gene",
"text_name": "IL-1B"
} | {
"begin_idx": "74",
"end_idx": "76",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "AD"
} | Yes |
12034804 | Are interleukin-1 gene polymorphisms risk factors or disease modifiers in AD? | Polymorphisms in the interleukin-1 genes, IL-1A and IL-1B, have been associated with AD, but not in all studies. The authors genotyped the IL-1A(-889) and IL-1B(-511) polymorphisms in large independent cohorts of 503 control individuals and 395 patients with AD, and a further 100 with brain Abeta load. No evidence was... | Are /"interleukin-1"/ gene polymorphisms risk factors or disease modifiers in /"AD"/? | Polymorphisms in the /"interleukin-1"/ genes, /"IL-1A"/ and IL-1B, have been associated with /"AD"/, but not in all studies. The authors genotyped the /"IL-1A"/(-889) and IL-1B(-511) polymorphisms in large independent cohorts of 503 control individuals and 395 patients with /"AD"/, and a further 100 with brain Abeta l... | [
{
"begin_idx": "74",
"end_idx": "76",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "AD"
},
{
"begin_idx": "163",
"end_idx": "165",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "AD"
},
{
"begin_idx": "337",
"end_idx": "339",
... | {
"begin_idx": "99",
"end_idx": "112",
"entity_id": "3552",
"entity_type": "Gene",
"text_name": "interleukin-1"
} | {
"begin_idx": "416",
"end_idx": "418",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "AD"
} | No |
12058348 | Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. | Multiple-lentigines (ML)/LEOPARD (multiple lentigines, electrocardiographic-conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) syndrome is an autosomal dominant condition--characterized by lentigines and caf au lait spots, facial... | Grouping of /"multiple-lentigines/LEOPARD and Noonan syndromes"/ on the /"PTPN11"/ gene. | /"Multiple-lentigines"/ (/"ML"/)/LEOPARD (/"multiple lentigines"/, electrocardiographic-conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) syndrome is an autosomal dominant condition--characterized by lentigines and caf au lait s... | [
{
"begin_idx": "225",
"end_idx": "243",
"entity_id": "C564563",
"entity_type": "Disease",
"text_name": "abnormal genitalia"
},
{
"begin_idx": "394",
"end_idx": "410",
"entity_id": "D000013",
"entity_type": "Disease",
"text_name": "facial anomalies"
},
{
"begin_idx... | {
"begin_idx": "68",
"end_idx": "74",
"entity_id": "5781",
"entity_type": "Gene",
"text_name": "PTPN11"
} | {
"begin_idx": "12",
"end_idx": "60",
"entity_id": "D044542",
"entity_type": "Disease",
"text_name": "multiple-lentigines/LEOPARD and Noonan syndromes"
} | Yes |
12058348 | Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. | Multiple-lentigines (ML)/LEOPARD (multiple lentigines, electrocardiographic-conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) syndrome is an autosomal dominant condition--characterized by lentigines and caf au lait spots, facial... | Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the /"PTPN11"/ gene. | Multiple-lentigines (ML)/LEOPARD (multiple lentigines, electrocardiographic-conduction abnormalities, ocular hypertelorism, /"pulmonary stenosis"/, abnormal genitalia, retardation of growth, and sensorineural deafness) syndrome is an autosomal dominant condition--characterized by lentigines and caf au lait spots, fa... | [
{
"begin_idx": "225",
"end_idx": "243",
"entity_id": "C564563",
"entity_type": "Disease",
"text_name": "abnormal genitalia"
},
{
"begin_idx": "394",
"end_idx": "410",
"entity_id": "D000013",
"entity_type": "Disease",
"text_name": "facial anomalies"
},
{
"begin_idx... | {
"begin_idx": "797",
"end_idx": "803",
"entity_id": "5781",
"entity_type": "Gene",
"text_name": "PTPN11"
} | {
"begin_idx": "205",
"end_idx": "223",
"entity_id": "D011666",
"entity_type": "Disease",
"text_name": "pulmonary stenosis"
} | No |
12059121 | Prevalence of hemochromatosis-related symptoms among individuals with mutations in the HFE gene. | OBJECTIVE: To determine the prevalence of hemochromatosis-related symptoms in homozygotes for the HFE mutation C282Y compared with controls without HFE mutations identified through a large screening program of subjects attending a health appraisal center. SUBJECTS AND METHODS: Presence of symptoms commonly associated ... | Prevalence of /"hemochromatosis"/-related symptoms among individuals with mutations in the /"HFE"/ gene. | OBJECTIVE: To determine the prevalence of /"hemochromatosis"/-related symptoms in homozygotes for the /"HFE"/ mutation C282Y compared with controls without /"HFE"/ mutations identified through a large screening program of subjects attending a health appraisal center. SUBJECTS AND METHODS: Presence of symptoms commonly... | [
{
"begin_idx": "1482",
"end_idx": "1493",
"entity_id": "D001145",
"entity_type": "Disease",
"text_name": "arrhythmias"
},
{
"begin_idx": "1441",
"end_idx": "1450",
"entity_id": "D001168",
"entity_type": "Disease",
"text_name": "arthritis"
},
{
"begin_idx": "14",
... | {
"begin_idx": "87",
"end_idx": "90",
"entity_id": "3077",
"entity_type": "Gene",
"text_name": "HFE"
} | {
"begin_idx": "14",
"end_idx": "29",
"entity_id": "D006432",
"entity_type": "Disease",
"text_name": "hemochromatosis"
} | Yes |
12059121 | Prevalence of hemochromatosis-related symptoms among individuals with mutations in the HFE gene. | OBJECTIVE: To determine the prevalence of hemochromatosis-related symptoms in homozygotes for the HFE mutation C282Y compared with controls without HFE mutations identified through a large screening program of subjects attending a health appraisal center. SUBJECTS AND METHODS: Presence of symptoms commonly associated ... | Prevalence of hemochromatosis-related symptoms among individuals with mutations in the /"HFE"/ gene. | OBJECTIVE: To determine the prevalence of hemochromatosis-related symptoms in homozygotes for the /"HFE"/ mutation C282Y compared with controls without /"HFE"/ mutations identified through a large screening program of subjects attending a health appraisal center. SUBJECTS AND METHODS: Presence of symptoms commonly ass... | [
{
"begin_idx": "1482",
"end_idx": "1493",
"entity_id": "D001145",
"entity_type": "Disease",
"text_name": "arrhythmias"
},
{
"begin_idx": "1441",
"end_idx": "1450",
"entity_id": "D001168",
"entity_type": "Disease",
"text_name": "arthritis"
},
{
"begin_idx": "14",
... | {
"begin_idx": "532",
"end_idx": "535",
"entity_id": "3077",
"entity_type": "Gene",
"text_name": "HFE"
} | {
"begin_idx": "1482",
"end_idx": "1493",
"entity_id": "D001145",
"entity_type": "Disease",
"text_name": "arrhythmias"
} | No |
12078789 | Lactic acidosis after cardiac surgery is associated with polymorphisms in tumor necrosis factor and interleukin 10 genes. | BACKGROUND: Lactic acidosis after cardiac surgery is a manifestation of excess cytokine production. Cytokine-related genetic polymorphisms account for variability in cytokine response and may predispose to the development of lactic acidosis after cardiac surgery. METHODS: Routine postoperative cardiac surgery patients... | /"Lactic acidosis"/ after cardiac surgery is associated with polymorphisms in tumor necrosis factor and /"interleukin 10"/ genes. | BACKGROUND: /"Lactic acidosis"/ after cardiac surgery is a manifestation of excess cytokine production. Cytokine-related genetic polymorphisms account for variability in cytokine response and may predispose to the development of /"lactic acidosis"/ after cardiac surgery. METHODS: Routine postoperative cardiac surgery ... | [
{
"begin_idx": "0",
"end_idx": "15",
"entity_id": "D000140",
"entity_type": "Disease",
"text_name": "Lactic acidosis"
},
{
"begin_idx": "134",
"end_idx": "149",
"entity_id": "D000140",
"entity_type": "Disease",
"text_name": "Lactic acidosis"
},
{
"begin_idx": "347... | {
"begin_idx": "100",
"end_idx": "114",
"entity_id": "3586",
"entity_type": "Gene",
"text_name": "interleukin 10"
} | {
"begin_idx": "0",
"end_idx": "15",
"entity_id": "D000140",
"entity_type": "Disease",
"text_name": "Lactic acidosis"
} | Yes |
12078789 | Lactic acidosis after cardiac surgery is associated with polymorphisms in tumor necrosis factor and interleukin 10 genes. | BACKGROUND: Lactic acidosis after cardiac surgery is a manifestation of excess cytokine production. Cytokine-related genetic polymorphisms account for variability in cytokine response and may predispose to the development of lactic acidosis after cardiac surgery. METHODS: Routine postoperative cardiac surgery patients... | /"Lactic acidosis"/ after cardiac surgery is associated with polymorphisms in tumor necrosis factor and interleukin 10 genes. | BACKGROUND: /"Lactic acidosis"/ after cardiac surgery is a manifestation of excess cytokine production. Cytokine-related genetic polymorphisms account for variability in cytokine response and may predispose to the development of /"lactic acidosis"/ after cardiac surgery. METHODS: Routine postoperative cardiac surgery ... | [
{
"begin_idx": "0",
"end_idx": "15",
"entity_id": "D000140",
"entity_type": "Disease",
"text_name": "Lactic acidosis"
},
{
"begin_idx": "134",
"end_idx": "149",
"entity_id": "D000140",
"entity_type": "Disease",
"text_name": "Lactic acidosis"
},
{
"begin_idx": "347... | {
"begin_idx": "931",
"end_idx": "939",
"entity_id": "4049",
"entity_type": "Gene",
"text_name": "TNF-beta"
} | {
"begin_idx": "134",
"end_idx": "149",
"entity_id": "D000140",
"entity_type": "Disease",
"text_name": "Lactic acidosis"
} | No |
12080485 | Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as "Nasu-Hakola disease," is a globally distributed recessively inherited disease leading to death during the 5th decade of life and is characterized by early-onset progressive dementia and bone cysts. Elsewhere, we have i... | Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. | /"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy"/ (/"PLOSL"/), also known as "/"Nasu-Hakola disease"/," is a globally distributed recessively inherited disease leading to death during the 5th decade of life and is characterized by early-onset progressive dementia and bone cysts. Elsewher... | [
{
"begin_idx": "125",
"end_idx": "201",
"entity_id": "C536329",
"entity_type": "Disease",
"text_name": "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy"
},
{
"begin_idx": "203",
"end_idx": "208",
"entity_id": "C536329",
"entity_type": "Disease",
... | {
"begin_idx": "746",
"end_idx": "751",
"entity_id": "54209",
"entity_type": "Gene",
"text_name": "TREM2"
} | {
"begin_idx": "125",
"end_idx": "201",
"entity_id": "C536329",
"entity_type": "Disease",
"text_name": "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy"
} | Yes |
12080485 | Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as "Nasu-Hakola disease," is a globally distributed recessively inherited disease leading to death during the 5th decade of life and is characterized by early-onset progressive dementia and bone cysts. Elsewhere, we have i... | Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. | /"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy"/ (/"PLOSL"/), also known as "/"Nasu-Hakola disease"/," is a globally distributed recessively inherited disease leading to death during the 5th decade of life and is characterized by early-onset progressive dementia and bone cysts. Elsewher... | [
{
"begin_idx": "125",
"end_idx": "201",
"entity_id": "C536329",
"entity_type": "Disease",
"text_name": "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy"
},
{
"begin_idx": "203",
"end_idx": "208",
"entity_id": "C536329",
"entity_type": "Disease",
... | {
"begin_idx": "1069",
"end_idx": "1075",
"entity_id": "7305",
"entity_type": "Gene",
"text_name": "TYROBP"
} | {
"begin_idx": "226",
"end_idx": "245",
"entity_id": "C536329",
"entity_type": "Disease",
"text_name": "Nasu-Hakola disease"
} | No |
12081984 | Serotonin transporter gene polymorphism and myocardial infarction: Etude Cas-T moins de l'Infarctus du Myocarde (ECTIM). | BACKGROUND: Depression is a risk factor for myocardial infarction (MI). Selective serotonin reuptake inhibitors reduce this risk. The site of action is the serotonin transporter (SLC6A4), which is expressed in brain and blood cells. A functional polymorphism in the promoter region of the SLC6A4 gene has been described... | /"Serotonin transporter"/ gene polymorphism and /"myocardial infarction"/: Etude Cas-T moins de l'Infarctus du Myocarde (ECTIM). | BACKGROUND: Depression is a risk factor for /"myocardial infarction"/ (/"MI"/). Selective serotonin reuptake inhibitors reduce this risk. The site of action is the /"serotonin transporter"/ (/"SLC6A4"/), which is expressed in brain and blood cells. A functional polymorphism in the promoter region of the /"SLC6A4"/ gen... | [
{
"begin_idx": "134",
"end_idx": "144",
"entity_id": "D003866",
"entity_type": "Disease",
"text_name": "Depression"
},
{
"begin_idx": "1405",
"end_idx": "1415",
"entity_id": "D003866",
"entity_type": "Disease",
"text_name": "depression"
},
{
"begin_idx": "44",
... | {
"begin_idx": "0",
"end_idx": "21",
"entity_id": "6532",
"entity_type": "Gene",
"text_name": "Serotonin transporter"
} | {
"begin_idx": "44",
"end_idx": "65",
"entity_id": "D009203",
"entity_type": "Disease",
"text_name": "myocardial infarction"
} | Yes |
12081984 | Serotonin transporter gene polymorphism and myocardial infarction: Etude Cas-T moins de l'Infarctus du Myocarde (ECTIM). | BACKGROUND: Depression is a risk factor for myocardial infarction (MI). Selective serotonin reuptake inhibitors reduce this risk. The site of action is the serotonin transporter (SLC6A4), which is expressed in brain and blood cells. A functional polymorphism in the promoter region of the SLC6A4 gene has been described... | /"Serotonin transporter"/ gene polymorphism and myocardial infarction: Etude Cas-T moins de l'Infarctus du Myocarde (ECTIM). | BACKGROUND: /"Depression"/ is a risk factor for myocardial infarction (MI). Selective serotonin reuptake inhibitors reduce this risk. The site of action is the /"serotonin transporter"/ (/"SLC6A4"/), which is expressed in brain and blood cells. A functional polymorphism in the promoter region of the /"SLC6A4"/ gene ha... | [
{
"begin_idx": "134",
"end_idx": "144",
"entity_id": "D003866",
"entity_type": "Disease",
"text_name": "Depression"
},
{
"begin_idx": "1405",
"end_idx": "1415",
"entity_id": "D003866",
"entity_type": "Disease",
"text_name": "depression"
},
{
"begin_idx": "44",
... | {
"begin_idx": "525",
"end_idx": "531",
"entity_id": "6532",
"entity_type": "Gene",
"text_name": "SLC6A4"
} | {
"begin_idx": "134",
"end_idx": "144",
"entity_id": "D003866",
"entity_type": "Disease",
"text_name": "Depression"
} | No |
12089173 | Relationship between genetic polymorphisms of alcohol-metabolizing enzymes and changes in risk factors for coronary heart disease associated with alcohol consumption. | BACKGROUND: There are large individual variations in the responses of risk factors for coronary heart disease to alcohol consumption. To clarify the factors responsible for these individual variations, we studied the relationship between blood pressure, serum lipids, and uric acid and the genetic polymorphisms of alco... | Relationship between genetic polymorphisms of alcohol-metabolizing enzymes and changes in risk factors for /"coronary heart disease"/ associated with alcohol consumption. | BACKGROUND: There are large individual variations in the responses of risk factors for /"coronary heart disease"/ to alcohol consumption. To clarify the factors responsible for these individual variations, we studied the relationship between blood pressure, serum lipids, and uric acid and the genetic polymorphisms of ... | [
{
"begin_idx": "107",
"end_idx": "129",
"entity_id": "D003327",
"entity_type": "Disease",
"text_name": "coronary heart disease"
},
{
"begin_idx": "254",
"end_idx": "276",
"entity_id": "D003327",
"entity_type": "Disease",
"text_name": "coronary heart disease"
},
{
... | {
"begin_idx": "797",
"end_idx": "802",
"entity_id": "217",
"entity_type": "Gene",
"text_name": "ALDH2"
} | {
"begin_idx": "107",
"end_idx": "129",
"entity_id": "D003327",
"entity_type": "Disease",
"text_name": "coronary heart disease"
} | Yes |
12089173 | Relationship between genetic polymorphisms of alcohol-metabolizing enzymes and changes in risk factors for coronary heart disease associated with alcohol consumption. | BACKGROUND: There are large individual variations in the responses of risk factors for coronary heart disease to alcohol consumption. To clarify the factors responsible for these individual variations, we studied the relationship between blood pressure, serum lipids, and uric acid and the genetic polymorphisms of alco... | Relationship between genetic polymorphisms of alcohol-metabolizing enzymes and changes in risk factors for /"coronary heart disease"/ associated with alcohol consumption. | BACKGROUND: There are large individual variations in the responses of risk factors for /"coronary heart disease"/ to alcohol consumption. To clarify the factors responsible for these individual variations, we studied the relationship between blood pressure, serum lipids, and uric acid and the genetic polymorphisms of ... | [
{
"begin_idx": "107",
"end_idx": "129",
"entity_id": "D003327",
"entity_type": "Disease",
"text_name": "coronary heart disease"
},
{
"begin_idx": "254",
"end_idx": "276",
"entity_id": "D003327",
"entity_type": "Disease",
"text_name": "coronary heart disease"
},
{
... | {
"begin_idx": "719",
"end_idx": "723",
"entity_id": "125",
"entity_type": "Gene",
"text_name": "ADH2"
} | {
"begin_idx": "107",
"end_idx": "129",
"entity_id": "D003327",
"entity_type": "Disease",
"text_name": "coronary heart disease"
} | Yes |
12102452 | The angiotensin-converting enzyme gene I/D polymorphism and heart rate variability following acute myocardial infarction. | AIMS: Heart rate variability (HRV) is a measure of cardiac autonomic control and is therefore subject to regulation by the renin-angiotensin system. The primary objective of this study was to determine the effect of an insertion/deletion polymorphism within the angiotensin-converting enzyme (ACE) gene on HRV in the ea... | The angiotensin-converting enzyme gene I/D polymorphism and heart rate variability following acute /"myocardial infarction"/. | AIMS: Heart rate variability (HRV) is a measure of cardiac autonomic control and is therefore subject to regulation by the renin-angiotensin system. The primary objective of this study was to determine the effect of an insertion/deletion polymorphism within the angiotensin-converting enzyme (/"ACE"/) gene on HRV in th... | [
{
"begin_idx": "970",
"end_idx": "972",
"entity_id": "C536170",
"entity_type": "Disease",
"text_name": "DD"
},
{
"begin_idx": "99",
"end_idx": "120",
"entity_id": "D009203",
"entity_type": "Disease",
"text_name": "myocardial infarction"
},
{
"begin_idx": "460",
... | {
"begin_idx": "415",
"end_idx": "418",
"entity_id": "1636",
"entity_type": "Gene",
"text_name": "ACE"
} | {
"begin_idx": "99",
"end_idx": "120",
"entity_id": "D009203",
"entity_type": "Disease",
"text_name": "myocardial infarction"
} | Yes |
12102452 | The angiotensin-converting enzyme gene I/D polymorphism and heart rate variability following acute myocardial infarction. | AIMS: Heart rate variability (HRV) is a measure of cardiac autonomic control and is therefore subject to regulation by the renin-angiotensin system. The primary objective of this study was to determine the effect of an insertion/deletion polymorphism within the angiotensin-converting enzyme (ACE) gene on HRV in the ea... | The angiotensin-converting enzyme gene I/D polymorphism and heart rate variability following acute /"myocardial infarction"/. | AIMS: Heart rate variability (HRV) is a measure of cardiac autonomic control and is therefore subject to regulation by the renin-angiotensin system. The primary objective of this study was to determine the effect of an insertion/deletion polymorphism within the angiotensin-converting enzyme (ACE) gene on HRV in the ea... | [
{
"begin_idx": "970",
"end_idx": "972",
"entity_id": "C536170",
"entity_type": "Disease",
"text_name": "DD"
},
{
"begin_idx": "99",
"end_idx": "120",
"entity_id": "D009203",
"entity_type": "Disease",
"text_name": "myocardial infarction"
},
{
"begin_idx": "460",
... | {
"begin_idx": "1503",
"end_idx": "1517",
"entity_id": "183",
"entity_type": "Gene",
"text_name": "angiotensin II"
} | {
"begin_idx": "1603",
"end_idx": "1624",
"entity_id": "D009203",
"entity_type": "Disease",
"text_name": "myocardial infarction"
} | No |
12104085 | CETP gene mutation (D442G) increases low-density lipoprotein particle size in patients with coronary heart disease. | BACKGROUND: Small, dense low-density lipoprotein (LDL) in subjects with the atherogenic pattern B has been established as a risk factor of atherosclerosis. Cholesteryl ester transfer protein (CETP) plays an important role in the transfer and exchange of cholesteryl esters and triglycerides between the lipoprotein clas... | /"CETP"/ gene mutation (D442G) increases low-density lipoprotein particle size in patients with /"coronary heart disease"/. | BACKGROUND: Small, dense low-density lipoprotein (LDL) in subjects with the atherogenic pattern B has been established as a risk factor of atherosclerosis. /"Cholesteryl ester transfer protein"/ (/"CETP"/) plays an important role in the transfer and exchange of cholesteryl esters and triglycerides between the lipoprot... | [
{
"begin_idx": "92",
"end_idx": "114",
"entity_id": "D003327",
"entity_type": "Disease",
"text_name": "coronary heart disease"
},
{
"begin_idx": "832",
"end_idx": "855",
"entity_id": "D003327",
"entity_type": "Disease",
"text_name": "coronary heart diseases"
},
{
... | {
"begin_idx": "272",
"end_idx": "306",
"entity_id": "1071",
"entity_type": "Gene",
"text_name": "Cholesteryl ester transfer protein"
} | {
"begin_idx": "832",
"end_idx": "855",
"entity_id": "D003327",
"entity_type": "Disease",
"text_name": "coronary heart diseases"
} | Yes |
12104085 | CETP gene mutation (D442G) increases low-density lipoprotein particle size in patients with coronary heart disease. | BACKGROUND: Small, dense low-density lipoprotein (LDL) in subjects with the atherogenic pattern B has been established as a risk factor of atherosclerosis. Cholesteryl ester transfer protein (CETP) plays an important role in the transfer and exchange of cholesteryl esters and triglycerides between the lipoprotein clas... | /"CETP"/ gene mutation (D442G) increases low-density lipoprotein particle size in patients with coronary heart disease. | BACKGROUND: Small, dense low-density lipoprotein (LDL) in subjects with the atherogenic pattern B has been established as a risk factor of /"atherosclerosis"/. /"Cholesteryl ester transfer protein"/ (/"CETP"/) plays an important role in the transfer and exchange of cholesteryl esters and triglycerides between the lipo... | [
{
"begin_idx": "92",
"end_idx": "114",
"entity_id": "D003327",
"entity_type": "Disease",
"text_name": "coronary heart disease"
},
{
"begin_idx": "832",
"end_idx": "855",
"entity_id": "D003327",
"entity_type": "Disease",
"text_name": "coronary heart diseases"
},
{
... | {
"begin_idx": "1629",
"end_idx": "1633",
"entity_id": "1071",
"entity_type": "Gene",
"text_name": "CETP"
} | {
"begin_idx": "255",
"end_idx": "270",
"entity_id": "D050197",
"entity_type": "Disease",
"text_name": "atherosclerosis"
} | No |
12135317 | Association of G-33A polymorphism in the thrombomodulin gene with myocardial infarction in Koreans. | Thrombomodulin (TM), a thrombin receptor expressed on the endothelial surface, is known to play an important role in the anti-thrombogenic system in vivo. In this study, we examined the effects of 3 single-nucleotide polymorphisms (SNPs) in the TM gene (G-33A, C1418T and C1922T) on the development of myocardial infarc... | Association of G-33A polymorphism in the /"thrombomodulin"/ gene with /"myocardial infarction"/ in Koreans. | /"Thrombomodulin"/ (/"TM"/), a thrombin receptor expressed on the endothelial surface, is known to play an important role in the anti-thrombogenic system in vivo. In this study, we examined the effects of 3 single-nucleotide polymorphisms (SNPs) in the /"TM"/ gene (G-33A, C1418T and C1922T) on the development of /"myo... | [
{
"begin_idx": "689",
"end_idx": "697",
"entity_id": "D003251",
"entity_type": "Disease",
"text_name": "stenosis"
},
{
"begin_idx": "828",
"end_idx": "836",
"entity_id": "D003251",
"entity_type": "Disease",
"text_name": "stenosis"
},
{
"begin_idx": "909",
"end... | {
"begin_idx": "41",
"end_idx": "55",
"entity_id": "7056",
"entity_type": "Gene",
"text_name": "thrombomodulin"
} | {
"begin_idx": "66",
"end_idx": "87",
"entity_id": "D009203",
"entity_type": "Disease",
"text_name": "myocardial infarction"
} | Yes |
12135317 | Association of G-33A polymorphism in the thrombomodulin gene with myocardial infarction in Koreans. | Thrombomodulin (TM), a thrombin receptor expressed on the endothelial surface, is known to play an important role in the anti-thrombogenic system in vivo. In this study, we examined the effects of 3 single-nucleotide polymorphisms (SNPs) in the TM gene (G-33A, C1418T and C1922T) on the development of myocardial infarc... | Association of G-33A polymorphism in the /"thrombomodulin"/ gene with myocardial infarction in Koreans. | /"Thrombomodulin"/ (/"TM"/), a thrombin receptor expressed on the endothelial surface, is known to play an important role in the anti-thrombogenic system in vivo. In this study, we examined the effects of 3 single-nucleotide polymorphisms (SNPs) in the /"TM"/ gene (G-33A, C1418T and C1922T) on the development of myoca... | [
{
"begin_idx": "689",
"end_idx": "697",
"entity_id": "D003251",
"entity_type": "Disease",
"text_name": "stenosis"
},
{
"begin_idx": "828",
"end_idx": "836",
"entity_id": "D003251",
"entity_type": "Disease",
"text_name": "stenosis"
},
{
"begin_idx": "909",
"end... | {
"begin_idx": "41",
"end_idx": "55",
"entity_id": "7056",
"entity_type": "Gene",
"text_name": "thrombomodulin"
} | {
"begin_idx": "909",
"end_idx": "917",
"entity_id": "D003251",
"entity_type": "Disease",
"text_name": "stenosis"
} | No |
12136242 | Prevalence of the CCR5Delta32 mutation in Brazilian populations and cell susceptibility to HIV-1 infection. | We investigated the occurrence of the CCR5Delta32 mutation in various regional ethnic groups in Brazil and tested the resistance of mutant peripheral blood mononuclear cells (PBMCs) to infection by HIV-1 in vitro. The heterozygous prevalence was 5.3% in uninfected African descendents and 8.8% in HIV-1-positive individ... | Prevalence of the CCR5Delta32 mutation in Brazilian populations and cell susceptibility to /"HIV-1 infection"/. | We investigated the occurrence of the CCR5Delta32 mutation in various regional ethnic groups in Brazil and tested the resistance of mutant peripheral blood mononuclear cells (PBMCs) to /"infection by HIV-1"/ in vitro. The heterozygous prevalence was 5.3% in uninfected African descendents and 8.8% in HIV-1-positive ind... | [
{
"begin_idx": "91",
"end_idx": "106",
"entity_id": "D015658",
"entity_type": "Disease",
"text_name": "HIV-1 infection"
},
{
"begin_idx": "293",
"end_idx": "311",
"entity_id": "D015658",
"entity_type": "Disease",
"text_name": "infection by HIV-1"
},
{
"begin_idx":... | {
"begin_idx": "568",
"end_idx": "572",
"entity_id": "1234",
"entity_type": "Gene",
"text_name": "CCR5"
} | {
"begin_idx": "293",
"end_idx": "311",
"entity_id": "D015658",
"entity_type": "Disease",
"text_name": "infection by HIV-1"
} | Yes |
12140136 | A T2517C polymorphism in the GSTM4 gene is associated with risk of developing lung cancer. | The human Mu class Glutathione S-Transferases is a family of genes encoding phase II detoxifying enzymes thus playing a significant role in the detoxification of potential carcinogens. While there are many contradicting reports on the association of GSTM1 polymorphisms and cancer development, no studies exist to date ... | A T2517C polymorphism in the /"GSTM4"/ gene is associated with risk of developing /"lung cancer"/. | The human Mu class Glutathione S-Transferases is a family of genes encoding phase II detoxifying enzymes thus playing a significant role in the detoxification of potential carcinogens. While there are many contradicting reports on the association of GSTM1 polymorphisms and cancer development, no studies exist to date ... | [
{
"begin_idx": "78",
"end_idx": "89",
"entity_id": "D008175",
"entity_type": "Disease",
"text_name": "lung cancer"
},
{
"begin_idx": "864",
"end_idx": "875",
"entity_id": "D008175",
"entity_type": "Disease",
"text_name": "lung cancer"
},
{
"begin_idx": "1100",
... | {
"begin_idx": "29",
"end_idx": "34",
"entity_id": "2948",
"entity_type": "Gene",
"text_name": "GSTM4"
} | {
"begin_idx": "78",
"end_idx": "89",
"entity_id": "D008175",
"entity_type": "Disease",
"text_name": "lung cancer"
} | Yes |
12140136 | A T2517C polymorphism in the GSTM4 gene is associated with risk of developing lung cancer. | The human Mu class Glutathione S-Transferases is a family of genes encoding phase II detoxifying enzymes thus playing a significant role in the detoxification of potential carcinogens. While there are many contradicting reports on the association of GSTM1 polymorphisms and cancer development, no studies exist to date ... | A T2517C polymorphism in the /"GSTM4"/ gene is associated with risk of developing lung cancer. | The human Mu class Glutathione S-Transferases is a family of genes encoding phase II detoxifying enzymes thus playing a significant role in the detoxification of potential carcinogens. While there are many contradicting reports on the association of GSTM1 polymorphisms and /"cancer"/ development, no studies exist to d... | [
{
"begin_idx": "78",
"end_idx": "89",
"entity_id": "D008175",
"entity_type": "Disease",
"text_name": "lung cancer"
},
{
"begin_idx": "864",
"end_idx": "875",
"entity_id": "D008175",
"entity_type": "Disease",
"text_name": "lung cancer"
},
{
"begin_idx": "1100",
... | {
"begin_idx": "29",
"end_idx": "34",
"entity_id": "2948",
"entity_type": "Gene",
"text_name": "GSTM4"
} | {
"begin_idx": "971",
"end_idx": "977",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "tumour"
} | No |
12140789 | Genetic predisposition to obesity in bulimia nervosa: a mutation screen of the melanocortin-4 receptor gene. | Obesity has been identified as a risk factor for the development of bulimia nervosa (BN). Accordingly, we hypothesize that genotypes predisposing to obesity can be detected in patients with this eating disorder. In order to investigate this hypothesis we screened the melanocortin-4 receptor gene (MC4R) for mutations u... | Genetic predisposition to /"obesity"/ in bulimia nervosa: a mutation screen of the /"melanocortin-4 receptor"/ gene. | /"Obesity"/ has been identified as a risk factor for the development of bulimia nervosa (BN). Accordingly, we hypothesize that genotypes predisposing to /"obesity"/ can be detected in patients with this eating disorder. In order to investigate this hypothesis we screened the /"melanocortin-4 receptor"/ gene (/"MC4R"/)... | [
{
"begin_idx": "304",
"end_idx": "319",
"entity_id": "D001068",
"entity_type": "Disease",
"text_name": "eating disorder"
},
{
"begin_idx": "26",
"end_idx": "33",
"entity_id": "D009765",
"entity_type": "Disease",
"text_name": "obesity"
},
{
"begin_idx": "109",
... | {
"begin_idx": "79",
"end_idx": "102",
"entity_id": "4160",
"entity_type": "Gene",
"text_name": "melanocortin-4 receptor"
} | {
"begin_idx": "1052",
"end_idx": "1067",
"entity_id": "D009765",
"entity_type": "Disease",
"text_name": "extremely obese"
} | Yes |
12140789 | Genetic predisposition to obesity in bulimia nervosa: a mutation screen of the melanocortin-4 receptor gene. | Obesity has been identified as a risk factor for the development of bulimia nervosa (BN). Accordingly, we hypothesize that genotypes predisposing to obesity can be detected in patients with this eating disorder. In order to investigate this hypothesis we screened the melanocortin-4 receptor gene (MC4R) for mutations u... | Genetic predisposition to obesity in /"bulimia nervosa"/: a mutation screen of the /"melanocortin-4 receptor"/ gene. | Obesity has been identified as a risk factor for the development of /"bulimia nervosa"/ (/"BN"/). Accordingly, we hypothesize that genotypes predisposing to obesity can be detected in patients with this eating disorder. In order to investigate this hypothesis we screened the /"melanocortin-4 receptor"/ gene (/"MC4R"/)... | [
{
"begin_idx": "304",
"end_idx": "319",
"entity_id": "D001068",
"entity_type": "Disease",
"text_name": "eating disorder"
},
{
"begin_idx": "26",
"end_idx": "33",
"entity_id": "D009765",
"entity_type": "Disease",
"text_name": "obesity"
},
{
"begin_idx": "109",
... | {
"begin_idx": "79",
"end_idx": "102",
"entity_id": "4160",
"entity_type": "Gene",
"text_name": "melanocortin-4 receptor"
} | {
"begin_idx": "37",
"end_idx": "52",
"entity_id": "D052018",
"entity_type": "Disease",
"text_name": "bulimia nervosa"
} | Yes |
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