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 |
|---|---|---|---|---|---|---|---|---|
10091612 | Variations in the monoamine oxidase B (MAOB) gene are associated with Parkinson's disease. | The monoamine oxidase B gene (MAOB; Xp15.21-4) is a candidate gene for Parkinson's disease (PD) given its role in dopamine metabolism and its possible role in the activation of neurotoxins. The association of MAOB polymorphisms (a [GT] repeat allelic variation in intron 2 and an A-G transition in intron 13) with Parki... | Variations in the /"monoamine oxidase B"/ (/"MAOB"/) gene are associated with /"Parkinson's disease"/. | The /"monoamine oxidase B"/ gene (/"MAOB"/; Xp15.21-4) is a candidate gene for /"Parkinson's disease"/ (/"PD"/) given its role in dopamine metabolism and its possible role in the activation of neurotoxins. The association of /"MAOB"/ polymorphisms (a [GT] repeat allelic variation in intron 2 and an A-G transition in i... | [
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"end_idx": "89",
"entity_id": "D010300",
"entity_type": "Disease",
"text_name": "Parkinson's disease"
},
{
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"end_idx": "181",
"entity_id": "D010300",
"entity_type": "Disease",
"text_name": "Parkinson's disease"
},
{
"begin_i... | {
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"end_idx": "37",
"entity_id": "4129",
"entity_type": "Gene",
"text_name": "monoamine oxidase B"
} | {
"begin_idx": "70",
"end_idx": "89",
"entity_id": "D010300",
"entity_type": "Disease",
"text_name": "Parkinson's disease"
} | Yes |
10091612 | Variations in the monoamine oxidase B (MAOB) gene are associated with Parkinson's disease. | The monoamine oxidase B gene (MAOB; Xp15.21-4) is a candidate gene for Parkinson's disease (PD) given its role in dopamine metabolism and its possible role in the activation of neurotoxins. The association of MAOB polymorphisms (a [GT] repeat allelic variation in intron 2 and an A-G transition in intron 13) with Parki... | Variations in the /"monoamine oxidase B"/ (/"MAOB"/) gene are associated with Parkinson's disease. | The /"monoamine oxidase B"/ gene (/"MAOB"/; Xp15.21-4) is a candidate gene for Parkinson's disease (PD) given its role in dopamine metabolism and its possible role in the activation of neurotoxins. The association of /"MAOB"/ polymorphisms (a [/"GT"/] repeat allelic variation in intron 2 and an A-G transition in intro... | [
{
"begin_idx": "70",
"end_idx": "89",
"entity_id": "D010300",
"entity_type": "Disease",
"text_name": "Parkinson's disease"
},
{
"begin_idx": "162",
"end_idx": "181",
"entity_id": "D010300",
"entity_type": "Disease",
"text_name": "Parkinson's disease"
},
{
"begin_i... | {
"begin_idx": "121",
"end_idx": "125",
"entity_id": "4129",
"entity_type": "Gene",
"text_name": "MAOB"
} | {
"begin_idx": "1319",
"end_idx": "1321",
"entity_id": "D013915",
"entity_type": "Disease",
"text_name": "GT"
} | No |
10094550 | Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3). | We have identified a novel RPGR gene mutation in a large Dutch family with X-linked retinitis pigmentosa (RP3). In affected members, a G-->T transversion was found at position +1 of the 5' splice site of intron 5 of the RPGR (retinitis pigmentosa GTPase regulator) gene. Analysis of this mutation at the RNA level showe... | Identification of a 5' splice site mutation in the /"RPGR"/ gene in a family with X-linked retinitis pigmentosa (/"RP3"/). | We have identified a novel /"RPGR"/ gene mutation in a large Dutch family with X-linked retinitis pigmentosa (/"RP3"/). In affected members, a G-->T transversion was found at position +1 of the 5' splice site of intron 5 of the /"RPGR"/ (/"retinitis pigmentosa"/ GTPase regulator) gene. Analysis of this mutation at the... | [
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"entity_id": "C564481",
"entity_type": "Disease",
"text_name": "X-linked retinitis pigmentosa"
},
{
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"end_idx": "219",
"entity_id": "C564481",
"entity_type": "Disease",
"text_name": "X-linked retinitis pigmentosa"
... | {
"begin_idx": "51",
"end_idx": "55",
"entity_id": "6103",
"entity_type": "Gene",
"text_name": "RPGR"
} | {
"begin_idx": "341",
"end_idx": "361",
"entity_id": "D012174",
"entity_type": "Disease",
"text_name": "retinitis pigmentosa"
} | Yes |
10094550 | Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3). | We have identified a novel RPGR gene mutation in a large Dutch family with X-linked retinitis pigmentosa (RP3). In affected members, a G-->T transversion was found at position +1 of the 5' splice site of intron 5 of the RPGR (retinitis pigmentosa GTPase regulator) gene. Analysis of this mutation at the RNA level showe... | Identification of a 5' splice site mutation in the /"RPGR"/ gene in a family with /"X-linked retinitis pigmentosa"/ (/"RP3"/). | We have identified a novel /"RPGR"/ gene mutation in a large Dutch family with /"X-linked retinitis pigmentosa"/ (/"RP3"/). In affected members, a G-->T transversion was found at position +1 of the 5' splice site of intron 5 of the /"RPGR"/ (retinitis pigmentosa GTPase regulator) gene. Analysis of this mutation at the... | [
{
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"entity_id": "C564481",
"entity_type": "Disease",
"text_name": "X-linked retinitis pigmentosa"
},
{
"begin_idx": "190",
"end_idx": "219",
"entity_id": "C564481",
"entity_type": "Disease",
"text_name": "X-linked retinitis pigmentosa"
... | {
"begin_idx": "221",
"end_idx": "224",
"entity_id": "6103",
"entity_type": "Gene",
"text_name": "RP3"
} | {
"begin_idx": "190",
"end_idx": "219",
"entity_id": "C564481",
"entity_type": "Disease",
"text_name": "X-linked retinitis pigmentosa"
} | No |
10200057 | Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. Online. | PKU is one of the commonest genetic disease in man, affecting 1/10,000 individuals. It presents a wide phenotypical spectrum, from classic PKU to moderate Hyperpheylalaninemia depending on the residual enzymatic activity. Two novel mutations 1163/1164delTG and P362T in exon 11 have been detected during the mutational ... | Two novel mutations in exon 11 of the /"PAH"/ gene (V1163del TG and P362T) associated with classic phenylketonuira and mild /"phenylketonuria"/. Mutations in brief no. 143. Online. | /"PKU"/ is one of the commonest genetic disease in man, affecting 1/10,000 individuals. It presents a wide phenotypical spectrum, from classic /"PKU"/ to moderate Hyperpheylalaninemia depending on the residual enzymatic activity. Two novel mutations 1163/1164delTG and P362T in exon 11 have been detected during the mut... | [
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"entity_id": "D010661",
"entity_type": "Disease",
"text_name": "phenylketonuria"
},
{
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"entity_id": "D010661",
"entity_type": "Disease",
"text_name": "PKU"
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{
"begin_idx": "312",
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"end_idx": "41",
"entity_id": "5053",
"entity_type": "Gene",
"text_name": "PAH"
} | {
"begin_idx": "120",
"end_idx": "135",
"entity_id": "D010661",
"entity_type": "Disease",
"text_name": "phenylketonuria"
} | Yes |
10200057 | Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. Online. | PKU is one of the commonest genetic disease in man, affecting 1/10,000 individuals. It presents a wide phenotypical spectrum, from classic PKU to moderate Hyperpheylalaninemia depending on the residual enzymatic activity. Two novel mutations 1163/1164delTG and P362T in exon 11 have been detected during the mutational ... | Two novel mutations in exon 11 of the /"PAH"/ gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. Online. | PKU is one of the commonest /"genetic disease"/ in man, affecting 1/10,000 individuals. It presents a wide phenotypical spectrum, from classic PKU to moderate Hyperpheylalaninemia depending on the residual enzymatic activity. Two novel mutations 1163/1164delTG and P362T in exon 11 have been detected during the mutatio... | [
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"begin_idx": "120",
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"entity_id": "D010661",
"entity_type": "Disease",
"text_name": "phenylketonuria"
},
{
"begin_idx": "173",
"end_idx": "176",
"entity_id": "D010661",
"entity_type": "Disease",
"text_name": "PKU"
},
{
"begin_idx": "312",
"e... | {
"begin_idx": "38",
"end_idx": "41",
"entity_id": "5053",
"entity_type": "Gene",
"text_name": "PAH"
} | {
"begin_idx": "201",
"end_idx": "216",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "genetic disease"
} | No |
10213916 | Urocortin and inflammation: confounding effects of hypotension on measures of inflammation. | Urocortin, a newly isolated 40-amino-acid mammalian peptide homologous to corticotropin-releasing hormone (CRH), activates both CRH type 1 and 2 receptors, but may be an endogenous ligand for CRH receptor type 2. Urocortin given systemically inhibited heat-induced paw edema in the rat, and was therefore ascribed anti-... | /"Urocortin"/ and /"inflammation"/: confounding effects of hypotension on measures of /"inflammation"/. | /"Urocortin"/, a newly isolated 40-amino-acid mammalian peptide homologous to corticotropin-releasing hormone (CRH), activates both CRH type 1 and 2 receptors, but may be an endogenous ligand for CRH receptor type 2. /"Urocortin"/ given systemically inhibited heat-induced paw edema in the rat, and was therefore ascrib... | [
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"entity_id": "D004487",
"entity_type": "Disease",
"text_name": "edema"
},
{
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"entity_id": "D007022",
"entity_type": "Disease",
"text_name": "hypotension"
},
{
"begin_idx": "890",
"end_i... | {
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"entity_id": "7349",
"entity_type": "Gene",
"text_name": "Urocortin"
} | {
"begin_idx": "14",
"end_idx": "26",
"entity_id": "D007249",
"entity_type": "Disease",
"text_name": "inflammation"
} | Yes |
10213916 | Urocortin and inflammation: confounding effects of hypotension on measures of inflammation. | Urocortin, a newly isolated 40-amino-acid mammalian peptide homologous to corticotropin-releasing hormone (CRH), activates both CRH type 1 and 2 receptors, but may be an endogenous ligand for CRH receptor type 2. Urocortin given systemically inhibited heat-induced paw edema in the rat, and was therefore ascribed anti-... | /"Urocortin"/ and inflammation: confounding effects of /"hypotension"/ on measures of inflammation. | /"Urocortin"/, a newly isolated 40-amino-acid mammalian peptide homologous to corticotropin-releasing hormone (CRH), activates both CRH type 1 and 2 receptors, but may be an endogenous ligand for CRH receptor type 2. /"Urocortin"/ given systemically inhibited heat-induced paw edema in the rat, and was therefore ascrib... | [
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},
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{
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} | {
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"entity_id": "D007022",
"entity_type": "Disease",
"text_name": "fall in blood pressure"
} | Yes |
10213916 | Urocortin and inflammation: confounding effects of hypotension on measures of inflammation. | Urocortin, a newly isolated 40-amino-acid mammalian peptide homologous to corticotropin-releasing hormone (CRH), activates both CRH type 1 and 2 receptors, but may be an endogenous ligand for CRH receptor type 2. Urocortin given systemically inhibited heat-induced paw edema in the rat, and was therefore ascribed anti-... | Urocortin and /"inflammation"/: confounding effects of hypotension on measures of /"inflammation"/. | Urocortin, a newly isolated 40-amino-acid mammalian peptide homologous to /"corticotropin-releasing hormone"/ (/"CRH"/), activates both /"CRH"/ type 1 and 2 receptors, but may be an endogenous ligand for /"CRH"/ receptor type 2. Urocortin given systemically inhibited heat-induced paw edema in the rat, and was therefor... | [
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"text_name": "edema"
},
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"text_name": "hypotension"
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{
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"entity_id": "1392",
"entity_type": "Gene",
"text_name": "corticotropin-releasing hormone"
} | {
"begin_idx": "513",
"end_idx": "525",
"entity_id": "D007249",
"entity_type": "Disease",
"text_name": "inflammation"
} | No |
10213916 | Urocortin and inflammation: confounding effects of hypotension on measures of inflammation. | Urocortin, a newly isolated 40-amino-acid mammalian peptide homologous to corticotropin-releasing hormone (CRH), activates both CRH type 1 and 2 receptors, but may be an endogenous ligand for CRH receptor type 2. Urocortin given systemically inhibited heat-induced paw edema in the rat, and was therefore ascribed anti-... | Urocortin and /"inflammation"/: confounding effects of hypotension on measures of /"inflammation"/. | Urocortin, a newly isolated 40-amino-acid mammalian peptide homologous to /"corticotropin-releasing hormone"/ (/"CRH"/), activates both /"CRH"/ type 1 and 2 receptors, but may be an endogenous ligand for /"CRH"/ receptor type 2. Urocortin given systemically inhibited heat-induced paw edema in the rat, and was therefor... | [
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{
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} | {
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"entity_id": "D007249",
"entity_type": "Disease",
"text_name": "inflammation"
} | No |
10234503 | Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. | Mutations in the developmental control gene PAX6 have been shown to be the genetic cause of aniridia, which is a severe panocular eye disease characterised by iris hypoplasia. The inheritance is autosomal dominant with high penetrance but variable expressivity. Here we describe a mutational analysis of 27 Danish patie... | Mutational analysis of /"PAX6"/: 16 novel mutations including 5 missense mutations with a mild /"aniridia"/ phenotype. | Mutations in the developmental control gene /"PAX6"/ have been shown to be the genetic cause of /"aniridia"/, which is a severe panocular eye disease characterised by iris hypoplasia. The inheritance is autosomal dominant with high penetrance but variable expressivity. Here we describe a mutational analysis of 27 Dani... | [
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"text_name": "panocular eye disease"
},
{
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"entity_id": "D007499",
"entity_type": "Disease",
"text_name": "iris hypoplasia"
},
{
"begin_i... | {
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"entity_id": "5080",
"entity_type": "Gene",
"text_name": "PAX6"
} | {
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"entity_id": "D015783",
"entity_type": "Disease",
"text_name": "aniridia"
} | Yes |
10234503 | Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. | Mutations in the developmental control gene PAX6 have been shown to be the genetic cause of aniridia, which is a severe panocular eye disease characterised by iris hypoplasia. The inheritance is autosomal dominant with high penetrance but variable expressivity. Here we describe a mutational analysis of 27 Danish patie... | Mutational analysis of /"PAX6"/: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. | Mutations in the developmental control gene /"PAX6"/ have been shown to be the genetic cause of aniridia, which is a severe panocular eye disease characterised by /"iris hypoplasia"/. The inheritance is autosomal dominant with high penetrance but variable expressivity. Here we describe a mutational analysis of 27 Dani... | [
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"entity_id": "D005128",
"entity_type": "Disease",
"text_name": "panocular eye disease"
},
{
"begin_idx": "270",
"end_idx": "285",
"entity_id": "D007499",
"entity_type": "Disease",
"text_name": "iris hypoplasia"
},
{
"begin_i... | {
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"end_idx": "1079",
"entity_id": "5080",
"entity_type": "Gene",
"text_name": "PAX6"
} | {
"begin_idx": "270",
"end_idx": "285",
"entity_id": "D007499",
"entity_type": "Disease",
"text_name": "iris hypoplasia"
} | No |
10318961 | Increased mortality, hypoactivity, and hypoalgesia in cannabinoid CB1 receptor knockout mice. | Delta9-Tetrahydrocannabinol (Delta9-THC), the major psychoactive ingredient in preparations of Cannabis sativa (marijuana, hashish), elicits central nervous system (CNS) responses, including cognitive alterations and euphoria. These responses account for the abuse potential of cannabis, while other effects such as ana... | Increased mortality, hypoactivity, and hypoalgesia in cannabinoid /"CB1"/ receptor knockout mice. | Delta9-Tetrahydrocannabinol (Delta9-THC), the major psychoactive ingredient in preparations of Cannabis sativa (marijuana, hashish), elicits central nervous system (CNS) responses, including cognitive alterations and euphoria. These responses account for the abuse potential of cannabis, while other effects such as ana... | [
{
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"end_idx": "419",
"entity_id": "D000699",
"entity_type": "Disease",
"text_name": "analgesia"
},
{
"begin_idx": "1003",
"end_idx": "1012",
"entity_id": "D000699",
"entity_type": "Disease",
"text_name": "analgesia"
},
{
"begin_idx": "746",
... | {
"begin_idx": "66",
"end_idx": "69",
"entity_id": "1268",
"entity_type": "Gene",
"text_name": "CB1"
} | {
"begin_idx": "789",
"end_idx": "798",
"entity_id": "D002375",
"entity_type": "Disease",
"text_name": "catalepsy"
} | Yes |
10318961 | Increased mortality, hypoactivity, and hypoalgesia in cannabinoid CB1 receptor knockout mice. | Delta9-Tetrahydrocannabinol (Delta9-THC), the major psychoactive ingredient in preparations of Cannabis sativa (marijuana, hashish), elicits central nervous system (CNS) responses, including cognitive alterations and euphoria. These responses account for the abuse potential of cannabis, while other effects such as ana... | Increased mortality, hypoactivity, and hypoalgesia in cannabinoid /"CB1"/ receptor knockout mice. | Delta9-Tetrahydrocannabinol (Delta9-THC), the major psychoactive ingredient in preparations of Cannabis sativa (marijuana, hashish), elicits central nervous system (CNS) responses, including cognitive alterations and euphoria. These responses account for the abuse potential of cannabis, while other effects such as /"a... | [
{
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"entity_id": "D000699",
"entity_type": "Disease",
"text_name": "analgesia"
},
{
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"entity_id": "D000699",
"entity_type": "Disease",
"text_name": "analgesia"
},
{
"begin_idx": "746",
... | {
"begin_idx": "939",
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"entity_id": "1268",
"entity_type": "Gene",
"text_name": "CB1"
} | {
"begin_idx": "1003",
"end_idx": "1012",
"entity_id": "D000699",
"entity_type": "Disease",
"text_name": "analgesia"
} | No |
10433910 | Goosecoid acts cell autonomously in mesenchyme-derived tissues during craniofacial development. | Mice homozygous for a targeted deletion of the homeobox gene Goosecoid (Gsc) have multiple craniofacial defects. To understand the mechanisms responsible for these defects, the behavior of Gsc-null cells was examined in morula aggregation chimeras. In these chimeras, Gsc-null cells were marked with beta-galactosidase ... | /"Goosecoid"/ acts cell autonomously in mesenchyme-derived tissues during craniofacial development. | Mice homozygous for a targeted deletion of the homeobox gene /"Goosecoid"/ (/"Gsc"/) have multiple /"craniofacial defects"/. To understand the mechanisms responsible for these defects, the behavior of /"Gsc"/-null cells was examined in morula aggregation chimeras. In these chimeras, /"Gsc"/-null cells were marked with... | [
{
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"entity_id": "D016537",
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"text_name": "beta-galactosidase"
},
{
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"entity_id": "D016537",
"entity_type": "Disease",
"text_name": "beta-gal"
},
{
"begin_idx": "187"... | {
"begin_idx": "0",
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"entity_id": "145258",
"entity_type": "Gene",
"text_name": "Goosecoid"
} | {
"begin_idx": "187",
"end_idx": "207",
"entity_id": "D019465",
"entity_type": "Disease",
"text_name": "craniofacial defects"
} | Yes |
10433910 | Goosecoid acts cell autonomously in mesenchyme-derived tissues during craniofacial development. | Mice homozygous for a targeted deletion of the homeobox gene Goosecoid (Gsc) have multiple craniofacial defects. To understand the mechanisms responsible for these defects, the behavior of Gsc-null cells was examined in morula aggregation chimeras. In these chimeras, Gsc-null cells were marked with beta-galactosidase ... | /"Goosecoid"/ acts cell autonomously in mesenchyme-derived tissues during craniofacial development. | Mice homozygous for a targeted deletion of the homeobox gene /"Goosecoid"/ (/"Gsc"/) have multiple craniofacial defects. To understand the mechanisms responsible for these defects, the behavior of /"Gsc"/-null cells was examined in morula aggregation chimeras. In these chimeras, /"Gsc"/-null cells were marked with /"b... | [
{
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"entity_id": "D016537",
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"text_name": "beta-galactosidase"
},
{
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"entity_id": "D016537",
"entity_type": "Disease",
"text_name": "beta-gal"
},
{
"begin_idx": "187"... | {
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"entity_id": "145258",
"entity_type": "Gene",
"text_name": "Gsc"
} | {
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"end_idx": "414",
"entity_id": "D016537",
"entity_type": "Disease",
"text_name": "beta-galactosidase"
} | No |
10459349 | Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas. | Neurofibromatosis 1 (NF1) is an autosomal dominant disorder with a complex variety of clinical symptoms. Genetic alteration of the NF1 gene on 17q11.2 is the disease. Neurofibromas of the peripheral nervous system are one main manifestation. A variant of neurofibroma is the plexiform neurofibroma which can be found in... | Allelic loss of the /"NF1"/ gene in /"NF1"/-associated plexiform neurofibromas. | /"Neurofibromatosis 1"/ (/"NF1"/) is an autosomal dominant disorder with a complex variety of clinical symptoms. Genetic alteration of the /"NF1"/ gene on 17q11.2 is the disease. Neurofibromas of the peripheral nervous system are one main manifestation. A variant of /"neurofibroma"/ is the plexiform neurofibroma which... | [
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{
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{
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"text_name": "Neurofibromatosis 1"
} | {
"begin_idx": "327",
"end_idx": "339",
"entity_id": "D009455",
"entity_type": "Disease",
"text_name": "neurofibroma"
} | Yes |
10459349 | Allelic loss of the NF1 gene in NF1-associated plexiform neurofibromas. | Neurofibromatosis 1 (NF1) is an autosomal dominant disorder with a complex variety of clinical symptoms. Genetic alteration of the NF1 gene on 17q11.2 is the disease. Neurofibromas of the peripheral nervous system are one main manifestation. A variant of neurofibroma is the plexiform neurofibroma which can be found in... | Allelic loss of the /"NF1"/ gene in /"NF1"/-associated plexiform neurofibromas. | /"Neurofibromatosis 1"/ (/"NF1"/) is an autosomal dominant disorder with a complex variety of clinical symptoms. Genetic alteration of the /"NF1"/ gene on 17q11.2 is the disease. Neurofibromas of the peripheral nervous system are one main manifestation. A variant of neurofibroma is the plexiform neurofibroma which can... | [
{
"begin_idx": "494",
"end_idx": "500",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "tumors"
},
{
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"end_idx": "675",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "tumors"
},
{
"begin_idx": "728",
"end_idx... | {
"begin_idx": "509",
"end_idx": "512",
"entity_id": "4763",
"entity_type": "Gene",
"text_name": "NF1"
} | {
"begin_idx": "494",
"end_idx": "500",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "tumors"
} | No |
10488956 | The genotype interactions of methylenetetrahydrofolate reductase and renin-angiotensin system genes are associated with myocardial infarction. | We analyzed the evolution with age of the frequencies of the I/D polymorphism of the angiotensin I-converting enzyme (ACE), a1166c of the angiotensin II AT1 receptor (AT1R), M235T of the angiotensinogen (AGT) and A225V of their methylenetetrahydrofolate reductase (MTHFR) gene in a healthy (H) population and the subseq... | The genotype interactions of /"methylenetetrahydrofolate reductase"/ and renin-angiotensin system genes are associated with /"myocardial infarction"/. | We analyzed the evolution with age of the frequencies of the I/D polymorphism of the angiotensin I-converting enzyme (ACE), a1166c of the angiotensin II AT1 receptor (AT1R), M235T of the angiotensinogen (AGT) and A225V of their /"methylenetetrahydrofolate reductase"/ (/"MTHFR"/) gene in a healthy (H) population and th... | [
{
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"end_idx": "141",
"entity_id": "D009203",
"entity_type": "Disease",
"text_name": "myocardial infarction"
},
{
"begin_idx": "512",
"end_idx": "533",
"entity_id": "D009203",
"entity_type": "Disease",
"text_name": "myocardial infarction"
},
{
"b... | {
"begin_idx": "29",
"end_idx": "64",
"entity_id": "4524",
"entity_type": "Gene",
"text_name": "methylenetetrahydrofolate reductase"
} | {
"begin_idx": "120",
"end_idx": "141",
"entity_id": "D009203",
"entity_type": "Disease",
"text_name": "myocardial infarction"
} | Yes |
10488956 | The genotype interactions of methylenetetrahydrofolate reductase and renin-angiotensin system genes are associated with myocardial infarction. | We analyzed the evolution with age of the frequencies of the I/D polymorphism of the angiotensin I-converting enzyme (ACE), a1166c of the angiotensin II AT1 receptor (AT1R), M235T of the angiotensinogen (AGT) and A225V of their methylenetetrahydrofolate reductase (MTHFR) gene in a healthy (H) population and the subseq... | The genotype interactions of methylenetetrahydrofolate reductase and renin-angiotensin system genes are associated with /"myocardial infarction"/. | We analyzed the evolution with age of the frequencies of the I/D polymorphism of the angiotensin I-converting enzyme (ACE), a1166c of the angiotensin II AT1 receptor (/"AT1R"/), M235T of the angiotensinogen (AGT) and A225V of their methylenetetrahydrofolate reductase (MTHFR) gene in a healthy (H) population and the su... | [
{
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"end_idx": "141",
"entity_id": "D009203",
"entity_type": "Disease",
"text_name": "myocardial infarction"
},
{
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"end_idx": "533",
"entity_id": "D009203",
"entity_type": "Disease",
"text_name": "myocardial infarction"
},
{
"b... | {
"begin_idx": "310",
"end_idx": "314",
"entity_id": "185",
"entity_type": "Gene",
"text_name": "AT1R"
} | {
"begin_idx": "1213",
"end_idx": "1215",
"entity_id": "D009203",
"entity_type": "Disease",
"text_name": "MI"
} | No |
10508521 | Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). | Retinitis pigmentosa (RP) comprises a clinically and genetically heterogeneous group of diseases that afflicts approximately 1.5 million people worldwide. Affected individuals suffer from a progressive degeneration of the photoreceptors, eventually resulting in severe visual impairment. To isolate candidate genes for ... | Mutations in a human homologue of Drosophila crumbs cause /"retinitis pigmentosa"/ (/"RP12"/). | /"Retinitis pigmentosa"/ (/"RP"/) comprises a clinically and genetically heterogeneous group of diseases that afflicts approximately 1.5 million people worldwide. Affected individuals suffer from a progressive degeneration of the photoreceptors, eventually resulting in severe visual impairment. To isolate candidate ge... | [
{
"begin_idx": "80",
"end_idx": "84",
"entity_id": "C563999",
"entity_type": "Disease",
"text_name": "RP12"
},
{
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"end_idx": "829",
"entity_id": "C563999",
"entity_type": "Disease",
"text_name": "RP12"
},
{
"begin_idx": "1485",
"end_idx": "1... | {
"begin_idx": "80",
"end_idx": "84",
"entity_id": "23418",
"entity_type": "Gene",
"text_name": "RP12"
} | {
"begin_idx": "734",
"end_idx": "756",
"entity_id": "D012174",
"entity_type": "Disease",
"text_name": "autosomal recessive RP"
} | Yes |
10508521 | Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). | Retinitis pigmentosa (RP) comprises a clinically and genetically heterogeneous group of diseases that afflicts approximately 1.5 million people worldwide. Affected individuals suffer from a progressive degeneration of the photoreceptors, eventually resulting in severe visual impairment. To isolate candidate genes for ... | Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (/"RP12"/12"/). | Retinitis pigmentosa (RP) comprises a clinically and genetically heterogeneous group of diseases that afflicts approximately 1.5 million people worldwide. Affected individuals suffer from a progressive degeneration of the photoreceptors, eventually resulting in severe visual impairment. To isolate candidate genes for ... | [
{
"begin_idx": "80",
"end_idx": "84",
"entity_id": "C563999",
"entity_type": "Disease",
"text_name": "RP12"
},
{
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"entity_id": "C563999",
"entity_type": "Disease",
"text_name": "RP12"
},
{
"begin_idx": "1485",
"end_idx": "1... | {
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"end_idx": "1304",
"entity_id": "23418",
"entity_type": "Gene",
"text_name": "CRB1"
} | {
"begin_idx": "825",
"end_idx": "829",
"entity_id": "C563999",
"entity_type": "Disease",
"text_name": "RP12"
} | No |
10527839 | Association between an alpha(2) macroglobulin DNA polymorphism and late-onset Alzheimer's disease. | An association between a five-base-pair deletion/insertion DNA polymorphism at the alpha(2) macroglobulin gene (A2M) and late-onset Alzheimer's disease (LOAD) has been recently described. We developed a PCR assay to analyze this polymorphism in 190 LOAD patients (older than 65 years) and 400 controls from Spain. Contr... | Association between an /"alpha(2) macroglobulin"/ DNA polymorphism and /"late-onset Alzheimer's disease"/. | An association between a five-base-pair deletion/insertion DNA polymorphism at the /"alpha(2) macroglobulin"/ gene (/"A2M"/) and /"late-onset Alzheimer's disease"/ (/"LOAD"/) has been recently described. We developed a PCR assay to analyze this polymorphism in 190 /"LOAD"/ patients (older than 65 years) and 400 contro... | [
{
"begin_idx": "67",
"end_idx": "97",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "late-onset Alzheimer's disease"
},
{
"begin_idx": "220",
"end_idx": "250",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "late-onset Alzheimer's disease"... | {
"begin_idx": "23",
"end_idx": "45",
"entity_id": "2",
"entity_type": "Gene",
"text_name": "alpha(2) macroglobulin"
} | {
"begin_idx": "67",
"end_idx": "97",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "late-onset Alzheimer's disease"
} | Yes |
10532948 | Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. | The Brugada syndrome is a major cause of sudden death, particularly among young men of Southeast Asian and Japanese origin. The syndrome is characterized electrocardiographically by an ST-segment elevation in V1 through V3 and a rapid polymorphic ventricular tachycardia that can degenerate into ventricular fibrillatio... | Ionic mechanisms responsible for the electrocardiographic phenotype of the /"Brugada syndrome"/ are temperature dependent. | The /"Brugada syndrome"/ is a major cause of sudden death, particularly among young men of Southeast Asian and Japanese origin. The syndrome is characterized electrocardiographically by an ST-segment elevation in V1 through V3 and a rapid polymorphic ventricular tachycardia that can degenerate into ventricular fibrill... | [
{
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"entity_id": "D003645",
"entity_type": "Disease",
"text_name": "sudden death"
},
{
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"end_idx": "439",
"entity_id": "D014693",
"entity_type": "Disease",
"text_name": "ventricular fibrillation"
},
{
"begin_i... | {
"begin_idx": "495",
"end_idx": "500",
"entity_id": "6331",
"entity_type": "Gene",
"text_name": "SCN5A"
} | {
"begin_idx": "75",
"end_idx": "91",
"entity_id": "D053840",
"entity_type": "Disease",
"text_name": "Brugada syndrome"
} | Yes |
10532948 | Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. | The Brugada syndrome is a major cause of sudden death, particularly among young men of Southeast Asian and Japanese origin. The syndrome is characterized electrocardiographically by an ST-segment elevation in V1 through V3 and a rapid polymorphic ventricular tachycardia that can degenerate into ventricular fibrillatio... | Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. | The Brugada syndrome is a major cause of sudden death, particularly among young men of Southeast Asian and Japanese origin. The syndrome is characterized electrocardiographically by an ST-segment elevation in V1 through V3 and a rapid polymorphic /"ventricular tachycardia"/ that can degenerate into ventricular fibrill... | [
{
"begin_idx": "160",
"end_idx": "172",
"entity_id": "D003645",
"entity_type": "Disease",
"text_name": "sudden death"
},
{
"begin_idx": "415",
"end_idx": "439",
"entity_id": "D014693",
"entity_type": "Disease",
"text_name": "ventricular fibrillation"
},
{
"begin_i... | {
"begin_idx": "495",
"end_idx": "500",
"entity_id": "6331",
"entity_type": "Gene",
"text_name": "SCN5A"
} | {
"begin_idx": "366",
"end_idx": "389",
"entity_id": "D017180",
"entity_type": "Disease",
"text_name": "ventricular tachycardia"
} | No |
10533957 | Lipolysis is an important determinant of isoproterenol-induced myocardial necrosis. | The cardiotoxic effect of isoproterenol (ISO) is associated with, and possibly due to, calcium overload. Prior work suggests that calcium entry into cardiac myocytes after ISO administration occurs in two phases: an early rapid phase, followed by a slow phase beginning about 1 hour after ISO injection, leading to a pe... | Lipolysis is an important determinant of isoproterenol-induced myocardial necrosis. | The cardiotoxic effect of isoproterenol (ISO) is associated with, and possibly due to, calcium overload. Prior work suggests that calcium entry into cardiac myocytes after ISO administration occurs in two phases: an early rapid phase, followed by a slow phase beginning about 1 hour after ISO injection, leading to a pe... | [
{
"begin_idx": "63",
"end_idx": "82",
"entity_id": "D009202",
"entity_type": "Disease",
"text_name": "myocardial necrosis"
},
{
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"end_idx": "522",
"entity_id": "D009202",
"entity_type": "Disease",
"text_name": "myocardial necrosis"
},
{
"begin_i... | {
"begin_idx": "1530",
"end_idx": "1548",
"entity_id": "4023",
"entity_type": "Gene",
"text_name": "lipoprotein lipase"
} | {
"begin_idx": "1655",
"end_idx": "1663",
"entity_id": "D009336",
"entity_type": "Disease",
"text_name": "necrosis"
} | Yes |
10533957 | Lipolysis is an important determinant of isoproterenol-induced myocardial necrosis. | The cardiotoxic effect of isoproterenol (ISO) is associated with, and possibly due to, calcium overload. Prior work suggests that calcium entry into cardiac myocytes after ISO administration occurs in two phases: an early rapid phase, followed by a slow phase beginning about 1 hour after ISO injection, leading to a pe... | Lipolysis is an important determinant of isoproterenol-induced /"myocardial necrosis"/. | The cardiotoxic effect of isoproterenol (ISO) is associated with, and possibly due to, calcium overload. Prior work suggests that calcium entry into cardiac myocytes after ISO administration occurs in two phases: an early rapid phase, followed by a slow phase beginning about 1 hour after ISO injection, leading to a pe... | [
{
"begin_idx": "63",
"end_idx": "82",
"entity_id": "D009202",
"entity_type": "Disease",
"text_name": "myocardial necrosis"
},
{
"begin_idx": "503",
"end_idx": "522",
"entity_id": "D009202",
"entity_type": "Disease",
"text_name": "myocardial necrosis"
},
{
"begin_i... | {
"begin_idx": "1530",
"end_idx": "1548",
"entity_id": "4023",
"entity_type": "Gene",
"text_name": "lipoprotein lipase"
} | {
"begin_idx": "63",
"end_idx": "82",
"entity_id": "D009202",
"entity_type": "Disease",
"text_name": "myocardial necrosis"
} | Yes |
10533957 | Lipolysis is an important determinant of isoproterenol-induced myocardial necrosis. | The cardiotoxic effect of isoproterenol (ISO) is associated with, and possibly due to, calcium overload. Prior work suggests that calcium entry into cardiac myocytes after ISO administration occurs in two phases: an early rapid phase, followed by a slow phase beginning about 1 hour after ISO injection, leading to a pe... | Lipolysis is an important determinant of isoproterenol-induced myocardial necrosis. | The /"cardiotoxic"/ effect of isoproterenol (ISO) is associated with, and possibly due to, calcium overload. Prior work suggests that calcium entry into cardiac myocytes after ISO administration occurs in two phases: an early rapid phase, followed by a slow phase beginning about 1 hour after ISO injection, leading to ... | [
{
"begin_idx": "63",
"end_idx": "82",
"entity_id": "D009202",
"entity_type": "Disease",
"text_name": "myocardial necrosis"
},
{
"begin_idx": "503",
"end_idx": "522",
"entity_id": "D009202",
"entity_type": "Disease",
"text_name": "myocardial necrosis"
},
{
"begin_i... | {
"begin_idx": "1530",
"end_idx": "1548",
"entity_id": "4023",
"entity_type": "Gene",
"text_name": "lipoprotein lipase"
} | {
"begin_idx": "88",
"end_idx": "99",
"entity_id": "D066126",
"entity_type": "Disease",
"text_name": "cardiotoxic"
} | No |
10533957 | Lipolysis is an important determinant of isoproterenol-induced myocardial necrosis. | The cardiotoxic effect of isoproterenol (ISO) is associated with, and possibly due to, calcium overload. Prior work suggests that calcium entry into cardiac myocytes after ISO administration occurs in two phases: an early rapid phase, followed by a slow phase beginning about 1 hour after ISO injection, leading to a pe... | Lipolysis is an important determinant of isoproterenol-induced myocardial necrosis. | The /"cardiotoxic"/ effect of isoproterenol (ISO) is associated with, and possibly due to, calcium overload. Prior work suggests that calcium entry into cardiac myocytes after ISO administration occurs in two phases: an early rapid phase, followed by a slow phase beginning about 1 hour after ISO injection, leading to ... | [
{
"begin_idx": "63",
"end_idx": "82",
"entity_id": "D009202",
"entity_type": "Disease",
"text_name": "myocardial necrosis"
},
{
"begin_idx": "503",
"end_idx": "522",
"entity_id": "D009202",
"entity_type": "Disease",
"text_name": "myocardial necrosis"
},
{
"begin_i... | {
"begin_idx": "1550",
"end_idx": "1553",
"entity_id": "4023",
"entity_type": "Gene",
"text_name": "LPL"
} | {
"begin_idx": "88",
"end_idx": "99",
"entity_id": "D066126",
"entity_type": "Disease",
"text_name": "cardiotoxic"
} | No |
10541293 | Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease. | It is estimated that approximately 15% of families with autosomal dominant polycystic kidney disease (ADPKD) have mutations in PKD2. Identification of these mutations is central to identifying functionally important regions of gene and to understanding the mechanisms underlying the pathogenesis of the disorder. The cu... | Aberrant splicing in the /"PKD2"/D2"/ gene as a cause of polycystic kidney disease. | It is estimated that approximately 15% of families with autosomal dominant polycystic kidney disease (ADPKD) have mutations in /"PKD2"/D2"/. Identification of these mutations is central to identifying functionally important regions of gene and to understanding the mechanisms underlying the pathogenesis of the disorder... | [
{
"begin_idx": "49",
"end_idx": "74",
"entity_id": "D007674",
"entity_type": "Disease",
"text_name": "polycystic kidney disease"
},
{
"begin_idx": "132",
"end_idx": "176",
"entity_id": "D007674",
"entity_type": "Disease",
"text_name": "autosomal dominant polycystic kidney... | {
"begin_idx": "25",
"end_idx": "29",
"entity_id": "5311",
"entity_type": "Gene",
"text_name": "PKD2"
} | {
"begin_idx": "25",
"end_idx": "29",
"entity_id": "D016891",
"entity_type": "Disease",
"text_name": "PKD2"
} | Yes |
10541293 | Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease. | It is estimated that approximately 15% of families with autosomal dominant polycystic kidney disease (ADPKD) have mutations in PKD2. Identification of these mutations is central to identifying functionally important regions of gene and to understanding the mechanisms underlying the pathogenesis of the disorder. The cu... | Aberrant splicing in the /"PKD2"/ gene as a cause of /"polycystic kidney disease"/. | It is estimated that approximately 15% of families with /"autosomal dominant polycystic kidney disease"/ (/"ADPKD"/) have mutations in /"PKD2"/. Identification of these mutations is central to identifying functionally important regions of gene and to understanding the mechanisms underlying the pathogenesis of the diso... | [
{
"begin_idx": "49",
"end_idx": "74",
"entity_id": "D007674",
"entity_type": "Disease",
"text_name": "polycystic kidney disease"
},
{
"begin_idx": "132",
"end_idx": "176",
"entity_id": "D007674",
"entity_type": "Disease",
"text_name": "autosomal dominant polycystic kidney... | {
"begin_idx": "203",
"end_idx": "207",
"entity_id": "5311",
"entity_type": "Gene",
"text_name": "PKD2"
} | {
"begin_idx": "441",
"end_idx": "446",
"entity_id": "D007674",
"entity_type": "Disease",
"text_name": "ADPKD"
} | No |
10619808 | Association between plasma CC16 levels, the A38G polymorphism, and asthma. | The effect of the A38G polymorphism on Clara cell secretory protein (CC16) gene expression and asthma was investigated by measuring plasma CC16 levels in 100 asthmatic and nonasthmatic children. Restriction digestion determined the A38G genotype and plasma CC16 levels were analyzed using a sensitive latex immunoassay.... | Association between plasma /"CC16"/ levels, the A38G polymorphism, and /"asthma"/. | The effect of the A38G polymorphism on Clara cell secretory protein (/"CC16"/) gene expression and /"asthma"/ was investigated by measuring plasma /"CC16"/ levels in 100 asthmatic and nonasthmatic children. Restriction digestion determined the A38G genotype and plasma /"CC16"/ levels were analyzed using a sensitive la... | [
{
"begin_idx": "67",
"end_idx": "73",
"entity_id": "D001249",
"entity_type": "Disease",
"text_name": "asthma"
},
{
"begin_idx": "170",
"end_idx": "176",
"entity_id": "D001249",
"entity_type": "Disease",
"text_name": "asthma"
},
{
"begin_idx": "814",
"end_idx":... | {
"begin_idx": "27",
"end_idx": "31",
"entity_id": "7356",
"entity_type": "Gene",
"text_name": "CC16"
} | {
"begin_idx": "67",
"end_idx": "73",
"entity_id": "D001249",
"entity_type": "Disease",
"text_name": "asthma"
} | Yes |
10670188 | [The C1166 allele of the AT1R gene associated with ACE DD phenotype increases the risk for deep venous thrombosis]. | [The C1166 allele of the /"AT1R"/ gene associated with ACE DD phenotype increases the risk for /"deep venous thrombosis"/]. | [
{
"begin_idx": "55",
"end_idx": "57",
"entity_id": "C536170",
"entity_type": "Disease",
"text_name": "DD"
},
{
"begin_idx": "91",
"end_idx": "113",
"entity_id": "D020246",
"entity_type": "Disease",
"text_name": "deep venous thrombosis"
},
{
"begin_idx": "51",
... | {
"begin_idx": "25",
"end_idx": "29",
"entity_id": "185",
"entity_type": "Gene",
"text_name": "AT1R"
} | {
"begin_idx": "91",
"end_idx": "113",
"entity_id": "D020246",
"entity_type": "Disease",
"text_name": "deep venous thrombosis"
} | Yes | ||
10670188 | [The C1166 allele of the AT1R gene associated with ACE DD phenotype increases the risk for deep venous thrombosis]. | [The C1166 allele of the AT1R gene associated with /"ACE"/ /"DD"/ phenotype increases the risk for deep venous thrombosis]. | [
{
"begin_idx": "55",
"end_idx": "57",
"entity_id": "C536170",
"entity_type": "Disease",
"text_name": "DD"
},
{
"begin_idx": "91",
"end_idx": "113",
"entity_id": "D020246",
"entity_type": "Disease",
"text_name": "deep venous thrombosis"
},
{
"begin_idx": "51",
... | {
"begin_idx": "51",
"end_idx": "54",
"entity_id": "1636",
"entity_type": "Gene",
"text_name": "ACE"
} | {
"begin_idx": "55",
"end_idx": "57",
"entity_id": "C536170",
"entity_type": "Disease",
"text_name": "DD"
} | No | ||
10680585 | Orphanin FQ/nociceptin inhibits morphine withdrawal. | The influence of orphanin FQ/nociceptin (OFQ/N) on the morphine-withdrawal symptom was investigated. Withdrawal syndrome was induced in the morphine-dependent rats by an intraperitoneal (i.p.) injection of 2 mg/kg naloxone hydrochloride--an opioid receptors antagonist. Wet-dog shakes were used as a measure of the abst... | /"Orphanin FQ"///"nociceptin"/ inhibits morphine withdrawal. | The influence of /"orphanin FQ"///"nociceptin"/ (OFQ/N) on the morphine-withdrawal symptom was investigated. /"Withdrawal syndrome"/ was induced in the morphine-dependent rats by an intraperitoneal (i.p.) injection of 2 mg/kg naloxone hydrochloride--an opioid receptors antagonist. Wet-dog shakes were used as a measure... | [
{
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"end_idx": "387",
"entity_id": "D009357",
"entity_type": "Disease",
"text_name": "abstinence syndrome"
},
{
"begin_idx": "154",
"end_idx": "173",
"entity_id": "D013375",
"entity_type": "Disease",
"text_name": "Withdrawal syndrome"
},
{
"begin... | {
"begin_idx": "0",
"end_idx": "11",
"entity_id": "5368",
"entity_type": "Gene",
"text_name": "Orphanin FQ"
} | {
"begin_idx": "154",
"end_idx": "173",
"entity_id": "D013375",
"entity_type": "Disease",
"text_name": "Withdrawal syndrome"
} | Yes |
10680585 | Orphanin FQ/nociceptin inhibits morphine withdrawal. | The influence of orphanin FQ/nociceptin (OFQ/N) on the morphine-withdrawal symptom was investigated. Withdrawal syndrome was induced in the morphine-dependent rats by an intraperitoneal (i.p.) injection of 2 mg/kg naloxone hydrochloride--an opioid receptors antagonist. Wet-dog shakes were used as a measure of the abst... | /"Orphanin FQ"///"nociceptin"/ inhibits morphine withdrawal. | The influence of /"orphanin FQ"///"nociceptin"/ (OFQ/N) on the morphine-withdrawal symptom was investigated. Withdrawal syndrome was induced in the morphine-dependent rats by an intraperitoneal (i.p.) injection of 2 mg/kg naloxone hydrochloride--an opioid receptors antagonist. Wet-dog shakes were used as a measure of ... | [
{
"begin_idx": "368",
"end_idx": "387",
"entity_id": "D009357",
"entity_type": "Disease",
"text_name": "abstinence syndrome"
},
{
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10702401 | Association of EWS-FLI1 type 1 fusion with lower proliferative rate in Ewing's sarcoma. | The Ewing's sarcoma (ES) family of tumors, including peripheral neuroectodermal tumor (PNET), is defined genetically by specific chromosomal translocations resulting in fusion of the EWS gene with a member of the ETS family of transcription factors, either FLI1 (90-95%) or ERG (5-10%). A second level of molecular gene... | Association of EWS-/"FLI1"/ type 1 fusion with lower proliferative rate in /"Ewing's sarcoma"/. | The /"Ewing's sarcoma"/ (/"ES"/) family of tumors, including peripheral neuroectodermal tumor (PNET), is defined genetically by specific chromosomal translocations resulting in fusion of the EWS gene with a member of the ETS family of transcription factors, either /"FLI1"/ (90-95%) or ERG (5-10%). A second level of mo... | [
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"entity_id": "D012512",
"entity_type": "Disease",
"text_name": "Ewing's sarcoma"
} | Yes |
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