pmid stringlengths 5 8 | title stringlengths 17 342 | abstract stringlengths 1 4.53k | revised_title stringlengths 17 354 | revised_abstract stringlengths 1 4.63k | all_entity_list listlengths 2 73 | head_gene_entity dict | tail_diease_entity dict | label stringclasses 2
values | intra-sentence bool 2
classes |
|---|---|---|---|---|---|---|---|---|---|
10022417 | The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred. | Detailed endocrinological studies were performed in the three affected kindred of a family carrying mutations of the GnRH receptor gene. All three were compound heterozygotes carrying on one allele the Arg262Gln mutation and on the other allele two mutations (Gln106Arg and Ser217Arg). When expressed in heterologous ce... | The same molecular defects of the /"gonadotropin-releasing hormone receptor"/ determine a variable degree of hypogonadism in affected kindred. | Detailed endocrinological studies were performed in the three affected kindred of a family carrying mutations of the /"GnRH receptor"/ gene. All three were compound heterozygotes carrying on one allele the Arg262Gln mutation and on the other allele two mutations (Gln106Arg and Ser217Arg). When expressed in heterologou... | [
{
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"end_idx": "689",
"entity_id": "C562785",
"entity_type": "Disease",
"text_name": "complete idiopathic hypogonadotropic hypogonadism"
},
{
"begin_idx": "1013",
"end_idx": "1053",
"entity_id": "C562785",
"entity_type": "Disease",
"text_name": "idiopath... | {
"begin_idx": "34",
"end_idx": "73",
"entity_id": "2798",
"entity_type": "Gene",
"text_name": "gonadotropin-releasing hormone receptor"
} | {
"begin_idx": "640",
"end_idx": "689",
"entity_id": "C562785",
"entity_type": "Disease",
"text_name": "complete idiopathic hypogonadotropic hypogonadism"
} | Yes | false |
10022417 | The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred. | Detailed endocrinological studies were performed in the three affected kindred of a family carrying mutations of the GnRH receptor gene. All three were compound heterozygotes carrying on one allele the Arg262Gln mutation and on the other allele two mutations (Gln106Arg and Ser217Arg). When expressed in heterologous ce... | The same molecular defects of the /"gonadotropin-releasing hormone receptor"/ determine a variable degree of /"hypogonadism"/ in affected kindred. | Detailed endocrinological studies were performed in the three affected kindred of a family carrying mutations of the /"GnRH receptor"/ gene. All three were compound heterozygotes carrying on one allele the Arg262Gln mutation and on the other allele two mutations (Gln106Arg and Ser217Arg). When expressed in heterologou... | [
{
"begin_idx": "640",
"end_idx": "689",
"entity_id": "C562785",
"entity_type": "Disease",
"text_name": "complete idiopathic hypogonadotropic hypogonadism"
},
{
"begin_idx": "1013",
"end_idx": "1053",
"entity_id": "C562785",
"entity_type": "Disease",
"text_name": "idiopath... | {
"begin_idx": "1530",
"end_idx": "1543",
"entity_id": "2798",
"entity_type": "Gene",
"text_name": "GnRH receptor"
} | {
"begin_idx": "105",
"end_idx": "117",
"entity_id": "D007006",
"entity_type": "Disease",
"text_name": "hypogonadism"
} | No | true |
10022458 | Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively. | We have characterized two different mutations of the human androgen receptor (hAR) found in two unrelated subjects with androgen insensitivity syndrome (AIS): in one, the external genitalia were ambiguous (partial, PAIS); in the other, they were male, but small (mild, MAIS). Single base substitutions have been found i... | Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively. | We have characterized two different mutations of the human /"androgen receptor"/ (hAR) found in two unrelated subjects with /"androgen insensitivity syndrome"/ (/"AIS"/): in one, the external genitalia were ambiguous (partial, PAIS); in the other, they were male, but small (mild, MAIS). Single base substitutions have ... | [
{
"begin_idx": "264",
"end_idx": "295",
"entity_id": "D013734",
"entity_type": "Disease",
"text_name": "androgen insensitivity syndrome"
},
{
"begin_idx": "297",
"end_idx": "300",
"entity_id": "D013734",
"entity_type": "Disease",
"text_name": "AIS"
},
{
"begin_idx... | {
"begin_idx": "203",
"end_idx": "220",
"entity_id": "367",
"entity_type": "Gene",
"text_name": "androgen receptor"
} | {
"begin_idx": "264",
"end_idx": "295",
"entity_id": "D013734",
"entity_type": "Disease",
"text_name": "androgen insensitivity syndrome"
} | Yes | true |
10022458 | Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively. | We have characterized two different mutations of the human androgen receptor (hAR) found in two unrelated subjects with androgen insensitivity syndrome (AIS): in one, the external genitalia were ambiguous (partial, PAIS); in the other, they were male, but small (mild, MAIS). Single base substitutions have been found i... | Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively. | We have characterized two different mutations of the human androgen receptor (/"hAR"/) found in two unrelated subjects with /"androgen insensitivity syndrome"/ (/"AIS"/): in one, the external genitalia were ambiguous (partial, PAIS); in the other, they were male, but small (mild, MAIS). Single base substitutions have ... | [
{
"begin_idx": "264",
"end_idx": "295",
"entity_id": "D013734",
"entity_type": "Disease",
"text_name": "androgen insensitivity syndrome"
},
{
"begin_idx": "297",
"end_idx": "300",
"entity_id": "D013734",
"entity_type": "Disease",
"text_name": "AIS"
},
{
"begin_idx... | {
"begin_idx": "1768",
"end_idx": "1771",
"entity_id": "10894",
"entity_type": "Gene",
"text_name": "hAR"
} | {
"begin_idx": "264",
"end_idx": "295",
"entity_id": "D013734",
"entity_type": "Disease",
"text_name": "androgen insensitivity syndrome"
} | No | true |
10022756 | The *NAT2 slow acetylator genotype is associated with bladder cancer in Taiwanese, but not in the Black Foot Disease endemic area population. | The /"NAT2"/2 slow acetylator genotype is associated with /"bladder cancer"/ in Taiwanese, but not in the Black Foot Disease endemic area population. | [
{
"begin_idx": "54",
"end_idx": "68",
"entity_id": "D001749",
"entity_type": "Disease",
"text_name": "bladder cancer"
},
{
"begin_idx": "104",
"end_idx": "116",
"entity_id": "D005534",
"entity_type": "Disease",
"text_name": "Foot Disease"
},
{
"begin_idx": "4",
... | {
"begin_idx": "4",
"end_idx": "8",
"entity_id": "10",
"entity_type": "Gene",
"text_name": "NAT2"
} | {
"begin_idx": "54",
"end_idx": "68",
"entity_id": "D001749",
"entity_type": "Disease",
"text_name": "bladder cancer"
} | Yes | true | ||
10022756 | The *NAT2 slow acetylator genotype is associated with bladder cancer in Taiwanese, but not in the Black Foot Disease endemic area population. | The /"NAT2"/2 slow acetylator genotype is associated with bladder cancer in Taiwanese, but not in the Black /"Foot Disease"/ endemic area population. | [
{
"begin_idx": "54",
"end_idx": "68",
"entity_id": "D001749",
"entity_type": "Disease",
"text_name": "bladder cancer"
},
{
"begin_idx": "104",
"end_idx": "116",
"entity_id": "D005534",
"entity_type": "Disease",
"text_name": "Foot Disease"
},
{
"begin_idx": "4",
... | {
"begin_idx": "4",
"end_idx": "8",
"entity_id": "10",
"entity_type": "Gene",
"text_name": "NAT2"
} | {
"begin_idx": "104",
"end_idx": "116",
"entity_id": "D005534",
"entity_type": "Disease",
"text_name": "Foot Disease"
} | No | true | ||
10024302 | Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. | The voltage-gated K+ channel KVLQT1 is essential for the repolarization phase of the cardiac action potential and for K+ homeostasis in the inner ear. Mutations in the human KCNQ1 gene encoding the alpha subunit of the KVLQT1 channel cause the long-QT syndrome (LQTS). The autosomal dominant form of this cardiac diseas... | Genomic organization of the /"KCNQ1"/ K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. | The voltage-gated K+ channel /"KVLQT1"/ is essential for the repolarization phase of the cardiac action potential and for K+ homeostasis in the inner ear. Mutations in the human /"KCNQ1"/ gene encoding the alpha subunit of the /"KVLQT1"/ channel cause the long-QT syndrome (LQTS). The autosomal dominant form of this ca... | [
{
"begin_idx": "521",
"end_idx": "544",
"entity_id": "D001145",
"entity_type": "Disease",
"text_name": "ventricular arrhythmias"
},
{
"begin_idx": "648",
"end_idx": "666",
"entity_id": "D003638",
"entity_type": "Disease",
"text_name": "bilateral deafness"
},
{
"be... | {
"begin_idx": "147",
"end_idx": "153",
"entity_id": "3784",
"entity_type": "Gene",
"text_name": "KVLQT1"
} | {
"begin_idx": "444",
"end_idx": "464",
"entity_id": "D029597",
"entity_type": "Disease",
"text_name": "Romano-Ward syndrome"
} | Yes | false |
10024302 | Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. | The voltage-gated K+ channel KVLQT1 is essential for the repolarization phase of the cardiac action potential and for K+ homeostasis in the inner ear. Mutations in the human KCNQ1 gene encoding the alpha subunit of the KVLQT1 channel cause the long-QT syndrome (LQTS). The autosomal dominant form of this cardiac diseas... | Genomic organization of the /"KCNQ1"/ K+ channel gene and identification of C-terminal mutations in the /"long-QT syndrome"/. | The voltage-gated K+ channel /"KVLQT1"/ is essential for the repolarization phase of the cardiac action potential and for K+ homeostasis in the inner ear. Mutations in the human /"KCNQ1"/ gene encoding the alpha subunit of the /"KVLQT1"/ channel cause the /"long-QT syndrome"/ (/"LQTS"/). The autosomal dominant form of... | [
{
"begin_idx": "521",
"end_idx": "544",
"entity_id": "D001145",
"entity_type": "Disease",
"text_name": "ventricular arrhythmias"
},
{
"begin_idx": "648",
"end_idx": "666",
"entity_id": "D003638",
"entity_type": "Disease",
"text_name": "bilateral deafness"
},
{
"be... | {
"begin_idx": "732",
"end_idx": "737",
"entity_id": "3784",
"entity_type": "Gene",
"text_name": "KCNQ1"
} | {
"begin_idx": "100",
"end_idx": "116",
"entity_id": "D008133",
"entity_type": "Disease",
"text_name": "long-QT syndrome"
} | No | true |
10025794 | Association of interleukin-1beta and interleukin-1 receptor antagonist genes with disease severity in MS. | OBJECTIVE: To investigate whether polymorphisms in the interleukin (IL)-1beta and IL-1 receptor antagonist (IL-1RA) genes are associated with both susceptibility to and clinical characteristics of MS. BACKGROUND: Genetic susceptibility to MS is determined by many partially identified genes. The genes encoding various ... | Association of /"interleukin-1beta"/ and interleukin-1 receptor antagonist genes with disease severity in /"MS"/. | OBJECTIVE: To investigate whether polymorphisms in the /"interleukin (IL)-1beta"/ and IL-1 receptor antagonist (IL-1RA) genes are associated with both susceptibility to and clinical characteristics of /"MS"/. BACKGROUND: Genetic susceptibility to /"MS"/ is determined by many partially identified genes. The genes encod... | [
{
"begin_idx": "102",
"end_idx": "104",
"entity_id": "D009103",
"entity_type": "Disease",
"text_name": "MS"
},
{
"begin_idx": "303",
"end_idx": "305",
"entity_id": "D009103",
"entity_type": "Disease",
"text_name": "MS"
},
{
"begin_idx": "345",
"end_idx": "347"... | {
"begin_idx": "161",
"end_idx": "183",
"entity_id": "3553",
"entity_type": "Gene",
"text_name": "interleukin (IL)-1beta"
} | {
"begin_idx": "102",
"end_idx": "104",
"entity_id": "D009103",
"entity_type": "Disease",
"text_name": "MS"
} | Yes | true |
10025794 | Association of interleukin-1beta and interleukin-1 receptor antagonist genes with disease severity in MS. | OBJECTIVE: To investigate whether polymorphisms in the interleukin (IL)-1beta and IL-1 receptor antagonist (IL-1RA) genes are associated with both susceptibility to and clinical characteristics of MS. BACKGROUND: Genetic susceptibility to MS is determined by many partially identified genes. The genes encoding various ... | Association of interleukin-1beta and interleukin-1 receptor antagonist genes with disease severity in /"MS"/. | OBJECTIVE: To investigate whether polymorphisms in the interleukin (IL)-1beta and /"IL-1 receptor antagonist"/ (/"IL-1RA"/) genes are associated with both susceptibility to and clinical characteristics of /"MS"/. BACKGROUND: Genetic susceptibility to /"MS"/ is determined by many partially identified genes. The genes e... | [
{
"begin_idx": "102",
"end_idx": "104",
"entity_id": "D009103",
"entity_type": "Disease",
"text_name": "MS"
},
{
"begin_idx": "303",
"end_idx": "305",
"entity_id": "D009103",
"entity_type": "Disease",
"text_name": "MS"
},
{
"begin_idx": "345",
"end_idx": "347"... | {
"begin_idx": "188",
"end_idx": "212",
"entity_id": "3557",
"entity_type": "Gene",
"text_name": "IL-1 receptor antagonist"
} | {
"begin_idx": "102",
"end_idx": "104",
"entity_id": "D009103",
"entity_type": "Disease",
"text_name": "MS"
} | Yes | true |
10027593 | UKPDS 31: Hepatocyte nuclear factor-1alpha (the MODY3 gene) mutations in late onset Type II diabetic patients in the United Kingdom. United Kingdom prospective diabetes study. | UKPDS 31: Hepatocyte nuclear factor-1alpha (the /"MODY3"/ gene) mutations in late onset /"Type II diabetic"/ patients in the United Kingdom. United Kingdom prospective diabetes study. | [
{
"begin_idx": "160",
"end_idx": "168",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
},
{
"begin_idx": "84",
"end_idx": "100",
"entity_id": "D003924",
"entity_type": "Disease",
"text_name": "Type II diabetic"
},
{
"begin_idx": "48",
... | {
"begin_idx": "48",
"end_idx": "53",
"entity_id": "6927",
"entity_type": "Gene",
"text_name": "MODY3"
} | {
"begin_idx": "84",
"end_idx": "100",
"entity_id": "D003924",
"entity_type": "Disease",
"text_name": "Type II diabetic"
} | Yes | true | ||
10027593 | UKPDS 31: Hepatocyte nuclear factor-1alpha (the MODY3 gene) mutations in late onset Type II diabetic patients in the United Kingdom. United Kingdom prospective diabetes study. | UKPDS 31: Hepatocyte nuclear factor-1alpha (the /"MODY3"/ gene) mutations in late onset Type II diabetic patients in the United Kingdom. United Kingdom prospective /"diabetes"/ study. | [
{
"begin_idx": "160",
"end_idx": "168",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
},
{
"begin_idx": "84",
"end_idx": "100",
"entity_id": "D003924",
"entity_type": "Disease",
"text_name": "Type II diabetic"
},
{
"begin_idx": "48",
... | {
"begin_idx": "48",
"end_idx": "53",
"entity_id": "6927",
"entity_type": "Gene",
"text_name": "MODY3"
} | {
"begin_idx": "160",
"end_idx": "168",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
} | No | false | ||
10027710 | Identification of a novel mutation in a non-Jewish factor XI deficient kindred. | The role of factor XI (FXI) in blood coagulation has been clarified in recent years by descriptions of FXI-deficient patients who are prone to excessive bleeding after haemostatic challenge. We have studied a large kindred of an Italian FXI-deficient patient with a previously undescribed mutation. The propositus, a 68... | Identification of a novel mutation in a non-Jewish /"factor XI deficient"/ kindred. | The role of /"factor XI"/ (/"FXI"/) in blood coagulation has been clarified in recent years by descriptions of /"FXI-deficient"/ patients who are prone to excessive bleeding after haemostatic challenge. We have studied a large kindred of an /"Italian FXI-deficient"/ patient with a previously undescribed mutation. The ... | [
{
"begin_idx": "111",
"end_idx": "128",
"entity_id": "D001778",
"entity_type": "Disease",
"text_name": "blood coagulation"
},
{
"begin_idx": "51",
"end_idx": "70",
"entity_id": "D005173",
"entity_type": "Disease",
"text_name": "factor XI deficient"
},
{
"begin_idx... | {
"begin_idx": "92",
"end_idx": "101",
"entity_id": "2160",
"entity_type": "Gene",
"text_name": "factor XI"
} | {
"begin_idx": "309",
"end_idx": "330",
"entity_id": "D005173",
"entity_type": "Disease",
"text_name": "Italian FXI-deficient"
} | Yes | true |
10027710 | Identification of a novel mutation in a non-Jewish factor XI deficient kindred. | The role of factor XI (FXI) in blood coagulation has been clarified in recent years by descriptions of FXI-deficient patients who are prone to excessive bleeding after haemostatic challenge. We have studied a large kindred of an Italian FXI-deficient patient with a previously undescribed mutation. The propositus, a 68... | Identification of a novel mutation in a non-Jewish factor XI deficient kindred. | The role of /"factor XI"/ (/"FXI"/) in blood coagulation has been clarified in recent years by descriptions of FXI-deficient patients who are prone to excessive /"bleeding"/ after haemostatic challenge. We have studied a large kindred of an Italian FXI-deficient patient with a previously undescribed mutation. The prop... | [
{
"begin_idx": "111",
"end_idx": "128",
"entity_id": "D001778",
"entity_type": "Disease",
"text_name": "blood coagulation"
},
{
"begin_idx": "51",
"end_idx": "70",
"entity_id": "D005173",
"entity_type": "Disease",
"text_name": "factor XI deficient"
},
{
"begin_idx... | {
"begin_idx": "617",
"end_idx": "620",
"entity_id": "2160",
"entity_type": "Gene",
"text_name": "FXI"
} | {
"begin_idx": "1092",
"end_idx": "1100",
"entity_id": "D006470",
"entity_type": "Disease",
"text_name": "bleeding"
} | No | true |
10029606 | Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. | X-linked sideroblastic anemia (XLSA) in four unrelated male probands was caused by missense mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2). All were new mutations: T647C, C1283T, G1395A, and C1406T predicting amino acid substitutions Y199H, R411C, R448Q, and R452C. All probands were clinic... | Four new mutations in the erythroid-specific 5-aminolevulinate synthase (/"ALAS2"/) gene causing /"X-linked sideroblastic anemia"/: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. | /"X-linked sideroblastic anemia"/ (/"XLSA"/) in four unrelated male probands was caused by missense mutations in the erythroid-specific 5-aminolevulinate synthase gene (/"ALAS2"/). All were new mutations: T647C, C1283T, G1395A, and C1406T predicting amino acid substitutions Y199H, R411C, R448Q, and R452C. All probands... | [
{
"begin_idx": "93",
"end_idx": "122",
"entity_id": "C536761",
"entity_type": "Disease",
"text_name": "X-linked sideroblastic anemia"
},
{
"begin_idx": "254",
"end_idx": "283",
"entity_id": "C536761",
"entity_type": "Disease",
"text_name": "X-linked sideroblastic anemia"
... | {
"begin_idx": "73",
"end_idx": "78",
"entity_id": "212",
"entity_type": "Gene",
"text_name": "ALAS2"
} | {
"begin_idx": "93",
"end_idx": "122",
"entity_id": "C536761",
"entity_type": "Disease",
"text_name": "X-linked sideroblastic anemia"
} | Yes | true |
10029606 | Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. | X-linked sideroblastic anemia (XLSA) in four unrelated male probands was caused by missense mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2). All were new mutations: T647C, C1283T, G1395A, and C1406T predicting amino acid substitutions Y199H, R411C, R448Q, and R452C. All probands were clinic... | Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing /"X-linked sideroblastic anemia"/: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. | /"X-linked sideroblastic anemia"/ (/"XLSA"/) in four unrelated male probands was caused by missense mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2). All were new mutations: T647C, C1283T, G1395A, and C1406T predicting amino acid substitutions Y199H, R411C, R448Q, and R452C. All probands wer... | [
{
"begin_idx": "93",
"end_idx": "122",
"entity_id": "C536761",
"entity_type": "Disease",
"text_name": "X-linked sideroblastic anemia"
},
{
"begin_idx": "254",
"end_idx": "283",
"entity_id": "C536761",
"entity_type": "Disease",
"text_name": "X-linked sideroblastic anemia"
... | {
"begin_idx": "831",
"end_idx": "834",
"entity_id": "3077",
"entity_type": "Gene",
"text_name": "HFE"
} | {
"begin_idx": "871",
"end_idx": "875",
"entity_id": "C536761",
"entity_type": "Disease",
"text_name": "XLSA"
} | No | true |
10036316 | Maroteaux-lamy syndrome: five novel mutations and their structural localization. | Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI, MPS VI) is an autosomal recessive disorder due to the deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ASB). Mutation analysis in Maroteaux-Lamy syndrome resulted in the identification of approximately 40 molecular defects un... | /"Maroteaux-lamy syndrome"/: five novel mutations and their structural localization. | /"Maroteaux-Lamy syndrome"/ (/"mucopolysaccharidosis type VI"/, /"MPS VI"/) is an autosomal recessive disorder due to the deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase (/"arylsulfatase B"/, /"ASB"/). Mutation analysis in /"Maroteaux-Lamy syndrome"/ resulted in the identification of approximately... | [
{
"begin_idx": "0",
"end_idx": "23",
"entity_id": "D009087",
"entity_type": "Disease",
"text_name": "Maroteaux-lamy syndrome"
},
{
"begin_idx": "81",
"end_idx": "104",
"entity_id": "D009087",
"entity_type": "Disease",
"text_name": "Maroteaux-Lamy syndrome"
},
{
"b... | {
"begin_idx": "261",
"end_idx": "276",
"entity_id": "411",
"entity_type": "Gene",
"text_name": "arylsulfatase B"
} | {
"begin_idx": "106",
"end_idx": "135",
"entity_id": "D009087",
"entity_type": "Disease",
"text_name": "mucopolysaccharidosis type VI"
} | Yes | true |
10036316 | Maroteaux-lamy syndrome: five novel mutations and their structural localization. | Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI, MPS VI) is an autosomal recessive disorder due to the deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ASB). Mutation analysis in Maroteaux-Lamy syndrome resulted in the identification of approximately 40 molecular defects un... | Maroteaux-lamy syndrome: five novel mutations and their structural localization. | Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI, MPS VI) is an /"autosomal recessive disorder"/ due to the deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase (/"arylsulfatase B"/, /"ASB"/). Mutation analysis in Maroteaux-Lamy syndrome resulted in the identification of approximately 40 molecula... | [
{
"begin_idx": "0",
"end_idx": "23",
"entity_id": "D009087",
"entity_type": "Disease",
"text_name": "Maroteaux-lamy syndrome"
},
{
"begin_idx": "81",
"end_idx": "104",
"entity_id": "D009087",
"entity_type": "Disease",
"text_name": "Maroteaux-Lamy syndrome"
},
{
"b... | {
"begin_idx": "278",
"end_idx": "281",
"entity_id": "411",
"entity_type": "Gene",
"text_name": "ASB"
} | {
"begin_idx": "151",
"end_idx": "179",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "autosomal recessive disorder"
} | No | true |
10049523 | An interluekin 1B allele, which correlates with a high secretor phenotype, is associated with diabetic nephropathy. | Induction of interleukin 1 activates vascular endothelial and kidney mesangial cells, and increases production of type IV (basement membrane) collagen. Hence, genes within the interleukin 1 gene cluster are potential candidates in the pathogenesis of diabetic nephropathy. In a previously validated case-control study f... | An interluekin 1B allele, which correlates with a high secretor phenotype, is associated with /"diabetic nephropathy"/. | Induction of interleukin 1 activates vascular endothelial and kidney mesangial cells, and increases production of type IV (basement membrane) collagen. Hence, genes within the interleukin 1 gene cluster are potential candidates in the pathogenesis of /"diabetic nephropathy"/. In a previously validated case-control stu... | [
{
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"end_idx": "523",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
},
{
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"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
},
{
"begin_idx": "887",
"end... | {
"begin_idx": "721",
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"entity_id": "3553",
"entity_type": "Gene",
"text_name": "interleukin 1A, interleukin 1B, interleukin 1 (type 1) receptor and interleukin 1 receptor"
} | {
"begin_idx": "94",
"end_idx": "114",
"entity_id": "D003928",
"entity_type": "Disease",
"text_name": "diabetic nephropathy"
} | Yes | true |
10049523 | An interluekin 1B allele, which correlates with a high secretor phenotype, is associated with diabetic nephropathy. | Induction of interleukin 1 activates vascular endothelial and kidney mesangial cells, and increases production of type IV (basement membrane) collagen. Hence, genes within the interleukin 1 gene cluster are potential candidates in the pathogenesis of diabetic nephropathy. In a previously validated case-control study f... | An interluekin 1B allele, which correlates with a high secretor phenotype, is associated with diabetic nephropathy. | Induction of /"interleukin 1"/ activates vascular endothelial and kidney mesangial cells, and increases production of type IV (basement membrane) collagen. Hence, genes within the /"interleukin 1"/ gene cluster are potential candidates in the pathogenesis of diabetic nephropathy. In a previously validated case-control... | [
{
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"end_idx": "523",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
},
{
"begin_idx": "596",
"end_idx": "604",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
},
{
"begin_idx": "887",
"end... | {
"begin_idx": "292",
"end_idx": "305",
"entity_id": "3552",
"entity_type": "Gene",
"text_name": "interleukin 1"
} | {
"begin_idx": "515",
"end_idx": "523",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
} | No | true |
10050867 | Association between nonrandom X-chromosome inactivation and BRCA1 mutation in germline DNA of patients with ovarian cancer. | BACKGROUND: Most human female cells contain two X chromosomes, only one of which is active. The process of X-chromosome inactivation, which occurs early in development, is usually random, producing tissues with equal mixtures of cells having active X chromosomes of either maternal or paternal origin. However, nonrando... | Association between nonrandom X-chromosome inactivation and /"BRCA1"/ mutation in germline DNA of patients with /"ovarian cancer"/. | BACKGROUND: Most human female cells contain two X chromosomes, only one of which is active. The process of X-chromosome inactivation, which occurs early in development, is usually random, producing tissues with equal mixtures of cells having active X chromosomes of either maternal or paternal origin. However, nonrando... | [
{
"begin_idx": "1718",
"end_idx": "1733",
"entity_id": "D009362",
"entity_type": "Disease",
"text_name": "invasive cancer"
},
{
"begin_idx": "497",
"end_idx": "502",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "tumor"
},
{
"begin_idx": "1396",
... | {
"begin_idx": "60",
"end_idx": "65",
"entity_id": "672",
"entity_type": "Gene",
"text_name": "BRCA1"
} | {
"begin_idx": "959",
"end_idx": "985",
"entity_id": "D010051",
"entity_type": "Disease",
"text_name": "hereditary ovarian cancers"
} | Yes | true |
10050867 | Association between nonrandom X-chromosome inactivation and BRCA1 mutation in germline DNA of patients with ovarian cancer. | BACKGROUND: Most human female cells contain two X chromosomes, only one of which is active. The process of X-chromosome inactivation, which occurs early in development, is usually random, producing tissues with equal mixtures of cells having active X chromosomes of either maternal or paternal origin. However, nonrando... | Association between nonrandom X-chromosome inactivation and /"BRCA1"/ mutation in germline DNA of patients with ovarian cancer. | BACKGROUND: Most human female cells contain two X chromosomes, only one of which is active. The process of X-chromosome inactivation, which occurs early in development, is usually random, producing tissues with equal mixtures of cells having active X chromosomes of either maternal or paternal origin. However, nonrando... | [
{
"begin_idx": "1718",
"end_idx": "1733",
"entity_id": "D009362",
"entity_type": "Disease",
"text_name": "invasive cancer"
},
{
"begin_idx": "497",
"end_idx": "502",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "tumor"
},
{
"begin_idx": "1396",
... | {
"begin_idx": "1413",
"end_idx": "1418",
"entity_id": "672",
"entity_type": "Gene",
"text_name": "BRCA1"
} | {
"begin_idx": "859",
"end_idx": "877",
"entity_id": "D009386",
"entity_type": "Disease",
"text_name": "hereditary cancers"
} | No | false |
10051017 | A mutation in the RIEG1 gene associated with Peters' anomaly. | Mutations within the RIEG1 homeobox gene on chromosome 4q25 have previously been reported in association with Rieger syndrome. We report a 3' splice site mutation within the 3rd intron of the RIEG1 gene which is associated with unilateral Peters' anomaly. The mutation is a single base substition of A to T at the invar... | A mutation in the /"RIEG1"/ gene associated with /"Peters' anomaly"/. | Mutations within the /"RIEG1"/ homeobox gene on chromosome 4q25 have previously been reported in association with Rieger syndrome. We report a 3' splice site mutation within the 3rd intron of the /"RIEG1"/ gene which is associated with unilateral /"Peters' anomaly"/. The mutation is a single base substition of A to T ... | [
{
"begin_idx": "172",
"end_idx": "187",
"entity_id": "C535679",
"entity_type": "Disease",
"text_name": "Rieger syndrome"
},
{
"begin_idx": "547",
"end_idx": "561",
"entity_id": "C535679",
"entity_type": "Disease",
"text_name": "Rieger anomaly"
},
{
"begin_idx": "4... | {
"begin_idx": "18",
"end_idx": "23",
"entity_id": "5308",
"entity_type": "Gene",
"text_name": "RIEG1"
} | {
"begin_idx": "45",
"end_idx": "60",
"entity_id": "C537884",
"entity_type": "Disease",
"text_name": "Peters' anomaly"
} | Yes | true |
10051017 | A mutation in the RIEG1 gene associated with Peters' anomaly. | Mutations within the RIEG1 homeobox gene on chromosome 4q25 have previously been reported in association with Rieger syndrome. We report a 3' splice site mutation within the 3rd intron of the RIEG1 gene which is associated with unilateral Peters' anomaly. The mutation is a single base substition of A to T at the invar... | A mutation in the /"RIEG1"/ gene associated with Peters' anomaly. | Mutations within the /"RIEG1"/ homeobox gene on chromosome 4q25 have previously been reported in association with /"Rieger syndrome"/. We report a 3' splice site mutation within the 3rd intron of the /"RIEG1"/ gene which is associated with unilateral Peters' anomaly. The mutation is a single base substition of A to T ... | [
{
"begin_idx": "172",
"end_idx": "187",
"entity_id": "C535679",
"entity_type": "Disease",
"text_name": "Rieger syndrome"
},
{
"begin_idx": "547",
"end_idx": "561",
"entity_id": "C535679",
"entity_type": "Disease",
"text_name": "Rieger anomaly"
},
{
"begin_idx": "4... | {
"begin_idx": "83",
"end_idx": "88",
"entity_id": "5308",
"entity_type": "Gene",
"text_name": "RIEG1"
} | {
"begin_idx": "547",
"end_idx": "561",
"entity_id": "C535679",
"entity_type": "Disease",
"text_name": "Rieger anomaly"
} | No | true |
10051160 | Severe Lhermitte-Duclos disease with unique germline mutation of PTEN. | Germline mutations in the PTEN gene have recently been identified in some individuals with Cowden disease (CD), Lhermitte-Duclos disease (LDD), and Bannayan-Zonana syndrome. We report on a patient with CD and LDD in whom a unique de novo germline missense mutation is present in the PTEN gene. Direct sequence analysis ... | Severe /"Lhermitte-Duclos disease"/ with unique germline mutation of /"PTEN"/. | Germline mutations in the /"PTEN"/ gene have recently been identified in some individuals with /"Cowden disease"/ (/"CD"/), /"Lhermitte-Duclos disease"/ (/"LDD"/), and /"Bannayan-Zonana syndrome"/. We report on a patient with /"CD"/ and /"LDD"/ in whom a unique de novo germline missense mutation is present in the /"PT... | [
{
"begin_idx": "7",
"end_idx": "31",
"entity_id": "D006223",
"entity_type": "Disease",
"text_name": "Lhermitte-Duclos disease"
},
{
"begin_idx": "162",
"end_idx": "176",
"entity_id": "D006223",
"entity_type": "Disease",
"text_name": "Cowden disease"
},
{
"begin_id... | {
"begin_idx": "65",
"end_idx": "69",
"entity_id": "5728",
"entity_type": "Gene",
"text_name": "PTEN"
} | {
"begin_idx": "7",
"end_idx": "31",
"entity_id": "D006223",
"entity_type": "Disease",
"text_name": "Lhermitte-Duclos disease"
} | Yes | true |
10051604 | Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly. | At least 11 complementation groups (CGs) have been identified for the peroxisome biogenesis disorders (PBDs) such as Zellweger syndrome, for which seven pathogenic genes have been elucidated. We have isolated a human PEX19 cDNA (HsPEX19) by functional complementation of peroxisome deficiency of a mutant Chinese hamste... | Human /"PEX19"/: cDNA cloning by functional complementation, mutation analysis in a patient with /"Zellweger syndrome"/, and potential role in peroxisomal membrane assembly. | At least 11 complementation groups (CGs) have been identified for the peroxisome biogenesis disorders (PBDs) such as /"Zellweger syndrome"/, for which seven pathogenic genes have been elucidated. We have isolated a human /"PEX19"/ cDNA (HsPEX19) by functional complementation of peroxisome deficiency of a mutant Chines... | [
{
"begin_idx": "93",
"end_idx": "111",
"entity_id": "D015211",
"entity_type": "Disease",
"text_name": "Zellweger syndrome"
},
{
"begin_idx": "283",
"end_idx": "301",
"entity_id": "D015211",
"entity_type": "Disease",
"text_name": "Zellweger syndrome"
},
{
"begin_id... | {
"begin_idx": "610",
"end_idx": "616",
"entity_id": "5824",
"entity_type": "Gene",
"text_name": "Pex19p"
} | {
"begin_idx": "93",
"end_idx": "111",
"entity_id": "D015211",
"entity_type": "Disease",
"text_name": "Zellweger syndrome"
} | Yes | true |
10051604 | Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly. | At least 11 complementation groups (CGs) have been identified for the peroxisome biogenesis disorders (PBDs) such as Zellweger syndrome, for which seven pathogenic genes have been elucidated. We have isolated a human PEX19 cDNA (HsPEX19) by functional complementation of peroxisome deficiency of a mutant Chinese hamste... | Human /"PEX19"/: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly. | At least 11 complementation groups (CGs) have been identified for the /"peroxisome biogenesis disorders"/ (/"PBDs"/) such as Zellweger syndrome, for which seven pathogenic genes have been elucidated. We have isolated a human /"PEX19"/ cDNA (HsPEX19) by functional complementation of /"peroxisome deficiency"/ of a mutan... | [
{
"begin_idx": "93",
"end_idx": "111",
"entity_id": "D015211",
"entity_type": "Disease",
"text_name": "Zellweger syndrome"
},
{
"begin_idx": "283",
"end_idx": "301",
"entity_id": "D015211",
"entity_type": "Disease",
"text_name": "Zellweger syndrome"
},
{
"begin_id... | {
"begin_idx": "1491",
"end_idx": "1497",
"entity_id": "5824",
"entity_type": "Gene",
"text_name": "Pex19p"
} | {
"begin_idx": "236",
"end_idx": "267",
"entity_id": "D018901",
"entity_type": "Disease",
"text_name": "peroxisome biogenesis disorders"
} | No | true |
10053004 | Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. | Biosynthesis of the molybdenum cofactor (MoCo) can be divided into (1) the formation of a precursor and (2) the latter's subsequent conversion, by molybdopterin synthase, into the organic moiety of MoCo. These two steps are reflected by the complementation groups A and B and the two formally distinguished types of MoC... | Human molybdopterin synthase gene: genomic structure and mutations in molybdenum /"cofactor deficiency type B"/. | Biosynthesis of the molybdenum cofactor (MoCo) can be divided into (1) the formation of a precursor and (2) the latter's subsequent conversion, by molybdopterin synthase, into the organic moiety of MoCo. These two steps are reflected by the complementation groups A and B and the two formally distinguished types of MoC... | [
{
"begin_idx": "416",
"end_idx": "440",
"entity_id": "C535811",
"entity_type": "Disease",
"text_name": "types of MoCo deficiency"
},
{
"begin_idx": "480",
"end_idx": "504",
"entity_id": "C535811",
"entity_type": "Disease",
"text_name": "types of MoCo deficiency"
},
{
... | {
"begin_idx": "798",
"end_idx": "803",
"entity_id": "4338",
"entity_type": "Gene",
"text_name": "MOCS2"
} | {
"begin_idx": "81",
"end_idx": "107",
"entity_id": "C565373",
"entity_type": "Disease",
"text_name": "cofactor deficiency type B"
} | Yes | false |
10053004 | Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. | Biosynthesis of the molybdenum cofactor (MoCo) can be divided into (1) the formation of a precursor and (2) the latter's subsequent conversion, by molybdopterin synthase, into the organic moiety of MoCo. These two steps are reflected by the complementation groups A and B and the two formally distinguished types of MoC... | Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. | Biosynthesis of the molybdenum cofactor (MoCo) can be divided into (1) the formation of a precursor and (2) the latter's subsequent conversion, by molybdopterin synthase, into the organic moiety of MoCo. These two steps are reflected by the complementation groups A and B and the two formally distinguished /"types of M... | [
{
"begin_idx": "416",
"end_idx": "440",
"entity_id": "C535811",
"entity_type": "Disease",
"text_name": "types of MoCo deficiency"
},
{
"begin_idx": "480",
"end_idx": "504",
"entity_id": "C535811",
"entity_type": "Disease",
"text_name": "types of MoCo deficiency"
},
{
... | {
"begin_idx": "798",
"end_idx": "803",
"entity_id": "4338",
"entity_type": "Gene",
"text_name": "MOCS2"
} | {
"begin_idx": "1073",
"end_idx": "1087",
"entity_id": "C535811",
"entity_type": "Disease",
"text_name": "MoCo-deficient"
} | No | false |
10053008 | Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome. | Dubin-Johnson syndrome (DJS) is an autosomal recessive disease characterized by conjugated hyperbilirubinemia. Previous studies of the defects in the human canalicular multispecific organic anion transporter gene (MRP2/cMOAT) in patients with DJS have suggested that the gene defects are responsible for DJS. In this st... | Genomic structure of the canalicular multispecific organic anion-transporter gene (/"MRP2"///"cMOAT"/) and mutations in the ATP-binding-cassette region in /"Dubin-Johnson syndrome"/. | /"Dubin-Johnson syndrome"/ (/"DJS"/) is an autosomal recessive disease characterized by conjugated hyperbilirubinemia. Previous studies of the defects in the human canalicular multispecific organic anion transporter gene (/"MRP2"///"cMOAT"/) in patients with /"DJS"/ have suggested that the gene defects are responsible... | [
{
"begin_idx": "262",
"end_idx": "280",
"entity_id": "D006932",
"entity_type": "Disease",
"text_name": "hyperbilirubinemia"
},
{
"begin_idx": "147",
"end_idx": "169",
"entity_id": "D007566",
"entity_type": "Disease",
"text_name": "Dubin-Johnson syndrome"
},
{
"beg... | {
"begin_idx": "88",
"end_idx": "93",
"entity_id": "1244",
"entity_type": "Gene",
"text_name": "cMOAT"
} | {
"begin_idx": "147",
"end_idx": "169",
"entity_id": "D007566",
"entity_type": "Disease",
"text_name": "Dubin-Johnson syndrome"
} | Yes | true |
10053008 | Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome. | Dubin-Johnson syndrome (DJS) is an autosomal recessive disease characterized by conjugated hyperbilirubinemia. Previous studies of the defects in the human canalicular multispecific organic anion transporter gene (MRP2/cMOAT) in patients with DJS have suggested that the gene defects are responsible for DJS. In this st... | Genomic structure of the canalicular multispecific organic anion-transporter gene (/"MRP2"///"cMOAT"/) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome. | Dubin-Johnson syndrome (DJS) is an /"autosomal recessive disease"/ characterized by conjugated hyperbilirubinemia. Previous studies of the defects in the human canalicular multispecific organic anion transporter gene (/"MRP2"///"cMOAT"/) in patients with DJS have suggested that the gene defects are responsible for DJS... | [
{
"begin_idx": "262",
"end_idx": "280",
"entity_id": "D006932",
"entity_type": "Disease",
"text_name": "hyperbilirubinemia"
},
{
"begin_idx": "147",
"end_idx": "169",
"entity_id": "D007566",
"entity_type": "Disease",
"text_name": "Dubin-Johnson syndrome"
},
{
"beg... | {
"begin_idx": "553",
"end_idx": "558",
"entity_id": "1244",
"entity_type": "Gene",
"text_name": "cMOAT"
} | {
"begin_idx": "206",
"end_idx": "233",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "autosomal recessive disease"
} | No | false |
10069705 | Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst. | A Japanese patient with tuberous sclerosis (TSC), who manifested with multiple lung cysts and pneumothorax, is described. All exons of two TSC genes, TSC1 and TSC2, in peripheral blood leukocytes from the patient were analyzed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). A novel T-t... | Novel /"TSC2"/C2"/ mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst. | A Japanese patient with tuberous sclerosis (TSC), who manifested with multiple lung cysts and pneumothorax, is described. All exons of two TSC genes, TSC1 and /"TSC2"/C2"/, in peripheral blood leukocytes from the patient were analyzed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). A n... | [
{
"begin_idx": "6",
"end_idx": "10",
"entity_id": "C566021",
"entity_type": "Disease",
"text_name": "TSC2"
},
{
"begin_idx": "274",
"end_idx": "278",
"entity_id": "C566021",
"entity_type": "Disease",
"text_name": "TSC2"
},
{
"begin_idx": "473",
"end_idx": "477... | {
"begin_idx": "6",
"end_idx": "10",
"entity_id": "7249",
"entity_type": "Gene",
"text_name": "TSC2"
} | {
"begin_idx": "6",
"end_idx": "10",
"entity_id": "C566021",
"entity_type": "Disease",
"text_name": "TSC2"
} | Yes | true |
10069705 | Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst. | A Japanese patient with tuberous sclerosis (TSC), who manifested with multiple lung cysts and pneumothorax, is described. All exons of two TSC genes, TSC1 and TSC2, in peripheral blood leukocytes from the patient were analyzed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). A novel T-t... | Novel /"TSC2"/ mutation in a patient with /"pulmonary tuberous sclerosis"/: lack of loss of heterozygosity in a lung cyst. | A Japanese patient with /"tuberous sclerosis"/ (/"TSC"/), who manifested with multiple lung cysts and pneumothorax, is described. All exons of two /"TSC"/ genes, TSC1 and /"TSC2"/, in peripheral blood leukocytes from the patient were analyzed by polymerase chain reaction-single strand conformation polymorphism (PCR-SS... | [
{
"begin_idx": "6",
"end_idx": "10",
"entity_id": "C566021",
"entity_type": "Disease",
"text_name": "TSC2"
},
{
"begin_idx": "274",
"end_idx": "278",
"entity_id": "C566021",
"entity_type": "Disease",
"text_name": "TSC2"
},
{
"begin_idx": "473",
"end_idx": "477... | {
"begin_idx": "6",
"end_idx": "10",
"entity_id": "7249",
"entity_type": "Gene",
"text_name": "TSC2"
} | {
"begin_idx": "38",
"end_idx": "66",
"entity_id": "D014402",
"entity_type": "Disease",
"text_name": "pulmonary tuberous sclerosis"
} | No | true |
10071100 | Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene. | BACKGROUND: X linked dominant Charcot-Marie-Tooth disease (CMT1X) is an inherited motor and sensory neuropathy that mainly affects the peripheral nervous system. CMT1X is associated with mutations in the gap junction protein connexin 32 (Cx32). Cx32 is expressed in Schwann cells and oligodendrocytes in the peripheral ... | Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the /"connexin 32"/ gene. | BACKGROUND: X linked dominant Charcot-Marie-Tooth disease (CMT1X) is an inherited motor and sensory neuropathy that mainly affects the peripheral nervous system. CMT1X is associated with mutations in the gap junction protein /"connexin 32"/ (/"Cx32"/). /"Cx32"/ is expressed in Schwann cells and oligodendrocytes in the... | [
{
"begin_idx": "1350",
"end_idx": "1354",
"entity_id": "C535919",
"entity_type": "Disease",
"text_name": "CMTX"
},
{
"begin_idx": "61",
"end_idx": "80",
"entity_id": "D002607",
"entity_type": "Disease",
"text_name": "Charcot-Marie-Tooth"
},
{
"begin_idx": "170",
... | {
"begin_idx": "122",
"end_idx": "133",
"entity_id": "2705",
"entity_type": "Gene",
"text_name": "connexin 32"
} | {
"begin_idx": "1350",
"end_idx": "1354",
"entity_id": "C535919",
"entity_type": "Disease",
"text_name": "CMTX"
} | Yes | true |
10071100 | Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene. | BACKGROUND: X linked dominant Charcot-Marie-Tooth disease (CMT1X) is an inherited motor and sensory neuropathy that mainly affects the peripheral nervous system. CMT1X is associated with mutations in the gap junction protein connexin 32 (Cx32). Cx32 is expressed in Schwann cells and oligodendrocytes in the peripheral ... | Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the /"connexin 32"/ gene. | BACKGROUND: X linked dominant Charcot-Marie-Tooth disease (CMT1X) is an /"inherited motor and sensory neuropathy"/ that mainly affects the peripheral nervous system. CMT1X is associated with mutations in the gap junction protein /"connexin 32"/ (/"Cx32"/). /"Cx32"/ is expressed in Schwann cells and oligodendrocytes in... | [
{
"begin_idx": "1350",
"end_idx": "1354",
"entity_id": "C535919",
"entity_type": "Disease",
"text_name": "CMTX"
},
{
"begin_idx": "61",
"end_idx": "80",
"entity_id": "D002607",
"entity_type": "Disease",
"text_name": "Charcot-Marie-Tooth"
},
{
"begin_idx": "170",
... | {
"begin_idx": "762",
"end_idx": "766",
"entity_id": "2705",
"entity_type": "Gene",
"text_name": "Cx32"
} | {
"begin_idx": "212",
"end_idx": "250",
"entity_id": "D010523",
"entity_type": "Disease",
"text_name": "inherited motor and sensory neuropathy"
} | No | false |
10072423 | A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. | Autosomal recessive juvenile parkinsonism (AR-JP, PARK2; OMIM 602544), one of the monogenic forms of Parkinson's disease (PD), was initially described in Japan. It is characterized by early onset (before age 40), marked response to levodopa treatment and levodopa-induced dyskinesias. The gene responsible for AR-JP was... | A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. | /"Autosomal recessive juvenile parkinsonism"/ (/"AR-JP"/JP"/, /"PARK2"/; OMIM 602544), one of the monogenic forms of Parkinson's disease (PD), was initially described in Japan. It is characterized by early onset (before age 40), marked response to levodopa treatment and levodopa-induced dyskinesias. The gene responsib... | [
{
"begin_idx": "509",
"end_idx": "520",
"entity_id": "D004409",
"entity_type": "Disease",
"text_name": "dyskinesias"
},
{
"begin_idx": "67",
"end_idx": "99",
"entity_id": "D010300",
"entity_type": "Disease",
"text_name": "autosomal recessive parkinsonism"
},
{
"be... | {
"begin_idx": "280",
"end_idx": "285",
"entity_id": "5071",
"entity_type": "Gene",
"text_name": "AR-JP"
} | {
"begin_idx": "237",
"end_idx": "278",
"entity_id": "D020734",
"entity_type": "Disease",
"text_name": "Autosomal recessive juvenile parkinsonism"
} | Yes | true |
10072423 | A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. | Autosomal recessive juvenile parkinsonism (AR-JP, PARK2; OMIM 602544), one of the monogenic forms of Parkinson's disease (PD), was initially described in Japan. It is characterized by early onset (before age 40), marked response to levodopa treatment and levodopa-induced dyskinesias. The gene responsible for AR-JP was... | A wide variety of mutations in the parkin gene are responsible for /"autosomal recessive parkinsonism"/ in Europe. French /"Parkinson's Disease"/ Genetics Study Group and the European Consortium on Genetic Susceptibility in /"Parkinson's Disease"/. | Autosomal recessive juvenile parkinsonism (/"AR-JP"/, /"PARK2"/; OMIM 602544), one of the monogenic forms of /"Parkinson's disease"/ (/"PD"/), was initially described in Japan. It is characterized by early onset (before age 40), marked response to levodopa treatment and levodopa-induced dyskinesias. The gene responsib... | [
{
"begin_idx": "509",
"end_idx": "520",
"entity_id": "D004409",
"entity_type": "Disease",
"text_name": "dyskinesias"
},
{
"begin_idx": "67",
"end_idx": "99",
"entity_id": "D010300",
"entity_type": "Disease",
"text_name": "autosomal recessive parkinsonism"
},
{
"be... | {
"begin_idx": "547",
"end_idx": "552",
"entity_id": "5071",
"entity_type": "Gene",
"text_name": "AR-JP"
} | {
"begin_idx": "1827",
"end_idx": "1829",
"entity_id": "D010300",
"entity_type": "Disease",
"text_name": "PD"
} | No | true |
10072428 | Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. | Inherited mutations in the E-cadherin gene ( CDH1 ) were described recently in three Maori kindreds with familial gastric cancer. Familial gastric cancer is genetically heterogeneous and it is not clear what proportion of gastric cancer susceptibility in non-Maori populations is due to germline CDH1 mutations. Therefo... | Germline /"E-cadherin"/ gene (/"CDH1"/) mutations predispose to /"familial gastric cancer"/ and colorectal cancer. | Inherited mutations in the /"E-cadherin"/ gene ( /"CDH1"/ ) were described recently in three Maori kindreds with /"familial gastric cancer"/. /"Familial gastric cancer"/ is genetically heterogeneous and it is not clear what proportion of /"gastric cancer"/ susceptibility in non-Maori populations is due to germline /"C... | [
{
"begin_idx": "56",
"end_idx": "79",
"entity_id": "D013274",
"entity_type": "Disease",
"text_name": "familial gastric cancer"
},
{
"begin_idx": "208",
"end_idx": "231",
"entity_id": "D013274",
"entity_type": "Disease",
"text_name": "familial gastric cancer"
},
{
... | {
"begin_idx": "9",
"end_idx": "19",
"entity_id": "999",
"entity_type": "Gene",
"text_name": "E-cadherin"
} | {
"begin_idx": "1322",
"end_idx": "1346",
"entity_id": "D013274",
"entity_type": "Disease",
"text_name": "familial gastric cancers"
} | Yes | true |
10072428 | Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. | Inherited mutations in the E-cadherin gene ( CDH1 ) were described recently in three Maori kindreds with familial gastric cancer. Familial gastric cancer is genetically heterogeneous and it is not clear what proportion of gastric cancer susceptibility in non-Maori populations is due to germline CDH1 mutations. Therefo... | Germline /"E-cadherin"/ gene (/"CDH1"/) mutations predispose to familial gastric cancer and /"colorectal cancer"/. | Inherited mutations in the /"E-cadherin"/ gene ( /"CDH1"/ ) were described recently in three Maori kindreds with familial gastric cancer. Familial gastric cancer is genetically heterogeneous and it is not clear what proportion of gastric cancer susceptibility in non-Maori populations is due to germline /"CDH1"/ mutati... | [
{
"begin_idx": "56",
"end_idx": "79",
"entity_id": "D013274",
"entity_type": "Disease",
"text_name": "familial gastric cancer"
},
{
"begin_idx": "208",
"end_idx": "231",
"entity_id": "D013274",
"entity_type": "Disease",
"text_name": "familial gastric cancer"
},
{
... | {
"begin_idx": "9",
"end_idx": "19",
"entity_id": "999",
"entity_type": "Gene",
"text_name": "E-cadherin"
} | {
"begin_idx": "1686",
"end_idx": "1716",
"entity_id": "D015179",
"entity_type": "Disease",
"text_name": "gastric and colorectal cancers"
} | Yes | true |
10075388 | Reduced bcl-2 concentrations in hypertensive patients after lisinopril or nifedipine administration. | In 30 patients with essential hypertension and 30 healthy control subjects, we evaluated blood concentrations of B cell leukemia-2 (bcl-2), a protooncogene that can reduce apoptosis. Bcl-2 concentrations were higher in hypertensive than in normotensive subjects. The increase in pressure due to a cold pressor test caus... | Reduced /"bcl-2"/ concentrations in /"hypertensive"/ patients after lisinopril or nifedipine administration. | In 30 patients with essential /"hypertension"/ and 30 healthy control subjects, we evaluated blood concentrations of /"B cell leukemia-2"/ (/"bcl-2"/), a protooncogene that can reduce apoptosis. /"Bcl-2"/ concentrations were higher in /"hypertensive"/ than in normotensive subjects. The increase in pressure due to a co... | [
{
"begin_idx": "32",
"end_idx": "44",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertensive"
},
{
"begin_idx": "131",
"end_idx": "143",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertension"
},
{
"begin_idx": "320",
... | {
"begin_idx": "214",
"end_idx": "231",
"entity_id": "596",
"entity_type": "Gene",
"text_name": "B cell leukemia-2"
} | {
"begin_idx": "32",
"end_idx": "44",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertensive"
} | Yes | true |
10075388 | Reduced bcl-2 concentrations in hypertensive patients after lisinopril or nifedipine administration. | In 30 patients with essential hypertension and 30 healthy control subjects, we evaluated blood concentrations of B cell leukemia-2 (bcl-2), a protooncogene that can reduce apoptosis. Bcl-2 concentrations were higher in hypertensive than in normotensive subjects. The increase in pressure due to a cold pressor test caus... | Reduced /"bcl-2"/-2"/ concentrations in hypertensive patients after lisinopril or nifedipine administration. | In 30 patients with essential hypertension and 30 healthy control subjects, we evaluated blood concentrations of /"B cell leukemia-2"/-2"/ (/"bcl-2"/-2"/), a protooncogene that can reduce apoptosis. /"Bcl-2"/ concentrations were higher in hypertensive than in normotensive subjects. The increase in pressure due to a co... | [
{
"begin_idx": "32",
"end_idx": "44",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertensive"
},
{
"begin_idx": "131",
"end_idx": "143",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertension"
},
{
"begin_idx": "320",
... | {
"begin_idx": "601",
"end_idx": "606",
"entity_id": "596",
"entity_type": "Gene",
"text_name": "bcl-2"
} | {
"begin_idx": "743",
"end_idx": "748",
"entity_id": "D015448",
"entity_type": "Disease",
"text_name": "bcl-2"
} | No | true |
10077519 | Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome. | BACKGROUND: Long-QT (LQT) syndrome is a cardiac disorder that causes syncope, seizures, and sudden death from ventricular arrhythmias, specifically torsade de pointes. Both autosomal dominant LQT (Romano-Ward syndrome) and autosomal recessive LQT (Jervell and Lange-Nielsen syndrome, JLNS) have been reported. Heterozyg... | Homozygous deletion in /"KVLQT1"/ associated with Jervell and /"Lange-Nielsen syndrome"/. | BACKGROUND: Long-QT (LQT) syndrome is a cardiac disorder that causes syncope, seizures, and sudden death from ventricular arrhythmias, specifically torsade de pointes. Both autosomal dominant LQT (Romano-Ward syndrome) and autosomal recessive LQT (Jervell and /"Lange-Nielsen syndrome"/, JLNS) have been reported. Heter... | [
{
"begin_idx": "192",
"end_idx": "215",
"entity_id": "D001145",
"entity_type": "Disease",
"text_name": "ventricular arrhythmias"
},
{
"begin_idx": "599",
"end_idx": "607",
"entity_id": "D003638",
"entity_type": "Disease",
"text_name": "deafness"
},
{
"begin_idx": ... | {
"begin_idx": "23",
"end_idx": "29",
"entity_id": "3784",
"entity_type": "Gene",
"text_name": "KVLQT1"
} | {
"begin_idx": "58",
"end_idx": "80",
"entity_id": "D029593",
"entity_type": "Disease",
"text_name": "Lange-Nielsen syndrome"
} | Yes | true |
10077519 | Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome. | BACKGROUND: Long-QT (LQT) syndrome is a cardiac disorder that causes syncope, seizures, and sudden death from ventricular arrhythmias, specifically torsade de pointes. Both autosomal dominant LQT (Romano-Ward syndrome) and autosomal recessive LQT (Jervell and Lange-Nielsen syndrome, JLNS) have been reported. Heterozyg... | Homozygous deletion in /"KVLQT1"/ associated with Jervell and Lange-Nielsen syndrome. | BACKGROUND: Long-QT (LQT) syndrome is a cardiac disorder that causes syncope, seizures, and sudden death from ventricular arrhythmias, specifically torsade de pointes. Both autosomal dominant LQT (Romano-Ward syndrome) and autosomal recessive LQT (Jervell and Lange-Nielsen syndrome, JLNS) have been reported. Heterozyg... | [
{
"begin_idx": "192",
"end_idx": "215",
"entity_id": "D001145",
"entity_type": "Disease",
"text_name": "ventricular arrhythmias"
},
{
"begin_idx": "599",
"end_idx": "607",
"entity_id": "D003638",
"entity_type": "Disease",
"text_name": "deafness"
},
{
"begin_idx": ... | {
"begin_idx": "1596",
"end_idx": "1602",
"entity_id": "3784",
"entity_type": "Gene",
"text_name": "KVLQT1"
} | {
"begin_idx": "1148",
"end_idx": "1177",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "inherited as recessive traits"
} | No | true |
10079291 | Identification of the gene variations in human CD22. | CD22, a member of the immunoglobulin superfamily, is a B-cell transmembrane glycoprotein that acts as an accessory-signaling component of the B-cell antigen receptor (BCR). Recent evidence indicating the role of CD22 as a negative regulator of BCR signal transduction prompted us to test the possibility that genetic va... | Identification of the gene variations in human /"CD22"/. | /"CD22"/, a member of the immunoglobulin superfamily, is a B-cell transmembrane glycoprotein that acts as an accessory-signaling component of the B-cell antigen receptor (BCR). Recent evidence indicating the role of /"CD22"/ as a negative regulator of BCR signal transduction prompted us to test the possibility that ge... | [
{
"begin_idx": "719",
"end_idx": "739",
"entity_id": "D001172",
"entity_type": "Disease",
"text_name": "rheumatoid arthritis"
},
{
"begin_idx": "741",
"end_idx": "743",
"entity_id": "D001172",
"entity_type": "Disease",
"text_name": "RA"
},
{
"begin_idx": "1385",
... | {
"begin_idx": "47",
"end_idx": "51",
"entity_id": "933",
"entity_type": "Gene",
"text_name": "CD22"
} | {
"begin_idx": "661",
"end_idx": "689",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "systemic lupus erythematosus"
} | Yes | true |
10079291 | Identification of the gene variations in human CD22. | CD22, a member of the immunoglobulin superfamily, is a B-cell transmembrane glycoprotein that acts as an accessory-signaling component of the B-cell antigen receptor (BCR). Recent evidence indicating the role of CD22 as a negative regulator of BCR signal transduction prompted us to test the possibility that genetic va... | Identification of the gene variations in human /"CD22"/. | /"CD22"/, a member of the immunoglobulin superfamily, is a B-cell transmembrane glycoprotein that acts as an accessory-signaling component of the B-cell antigen receptor (BCR). Recent evidence indicating the role of /"CD22"/ as a negative regulator of BCR signal transduction prompted us to test the possibility that ge... | [
{
"begin_idx": "719",
"end_idx": "739",
"entity_id": "D001172",
"entity_type": "Disease",
"text_name": "rheumatoid arthritis"
},
{
"begin_idx": "741",
"end_idx": "743",
"entity_id": "D001172",
"entity_type": "Disease",
"text_name": "RA"
},
{
"begin_idx": "1385",
... | {
"begin_idx": "53",
"end_idx": "57",
"entity_id": "933",
"entity_type": "Gene",
"text_name": "CD22"
} | {
"begin_idx": "1385",
"end_idx": "1387",
"entity_id": "D001172",
"entity_type": "Disease",
"text_name": "RA"
} | No | true |
10080178 | Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. | Darier disease (DD) is an autosomal-dominant skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Recently we constructed a 2.4-Mb, P1-derived artificial chromosome contig spanning the DD candidate region on chromosome 12q23-24.1. After screening several g... | Mutations in /"ATP2A2"/, encoding a Ca2+ pump, cause /"Darier disease"/. | /"Darier disease"/ (/"DD"/) is an autosomal-dominant skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Recently we constructed a 2.4-Mb, P1-derived artificial chromosome contig spanning the /"DD"/ candidate region on chromosome 12q23-24.1. After screeni... | [
{
"begin_idx": "49",
"end_idx": "63",
"entity_id": "D007644",
"entity_type": "Disease",
"text_name": "Darier disease"
},
{
"begin_idx": "65",
"end_idx": "79",
"entity_id": "D007644",
"entity_type": "Disease",
"text_name": "Darier disease"
},
{
"begin_idx": "81",
... | {
"begin_idx": "479",
"end_idx": "535",
"entity_id": "488",
"entity_type": "Gene",
"text_name": "sarco/endoplasmic reticulum Ca2(+)-ATPase type 2 isoform"
} | {
"begin_idx": "49",
"end_idx": "63",
"entity_id": "D007644",
"entity_type": "Disease",
"text_name": "Darier disease"
} | Yes | true |
10080178 | Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. | Darier disease (DD) is an autosomal-dominant skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Recently we constructed a 2.4-Mb, P1-derived artificial chromosome contig spanning the DD candidate region on chromosome 12q23-24.1. After screening several g... | Mutations in /"ATP2A2"/, encoding a Ca2+ pump, cause Darier disease. | Darier disease (DD) is an /"autosomal-dominant skin disorder"/ characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Recently we constructed a 2.4-Mb, P1-derived artificial chromosome contig spanning the DD candidate region on chromosome 12q23-24.1. After screening sever... | [
{
"begin_idx": "49",
"end_idx": "63",
"entity_id": "D007644",
"entity_type": "Disease",
"text_name": "Darier disease"
},
{
"begin_idx": "65",
"end_idx": "79",
"entity_id": "D007644",
"entity_type": "Disease",
"text_name": "Darier disease"
},
{
"begin_idx": "81",
... | {
"begin_idx": "537",
"end_idx": "543",
"entity_id": "488",
"entity_type": "Gene",
"text_name": "SERCA2"
} | {
"begin_idx": "91",
"end_idx": "123",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "autosomal-dominant skin disorder"
} | No | false |
10080184 | Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. | The secreted polypeptide noggin (encoded by the Nog gene) binds and inactivates members of the transforming growth factor beta superfamily of signalling proteins (TGFbeta-FMs), such as BMP4 (ref. 1). By diffusing through extracellular matrices more efficiently than TGFbeta-FMs, noggin may have a principal role in crea... | Heterozygous mutations in the gene encoding /"noggin"/ affect human joint morphogenesis. | The secreted polypeptide /"noggin"/ (encoded by the /"Nog"/ gene) binds and inactivates members of the transforming growth factor beta superfamily of signalling proteins (TGFbeta-FMs), such as BMP4 (ref. 1). By diffusing through extracellular matrices more efficiently than TGFbeta-FMs, /"noggin"/ may have a principal ... | [
{
"begin_idx": "713",
"end_idx": "735",
"entity_id": "C536223",
"entity_type": "Disease",
"text_name": "proximal symphalangism"
},
{
"begin_idx": "879",
"end_idx": "907",
"entity_id": "C536943",
"entity_type": "Disease",
"text_name": "multiple synostoses syndrome"
},
... | {
"begin_idx": "44",
"end_idx": "50",
"entity_id": "9241",
"entity_type": "Gene",
"text_name": "noggin"
} | {
"begin_idx": "879",
"end_idx": "907",
"entity_id": "C536943",
"entity_type": "Disease",
"text_name": "multiple synostoses syndrome"
} | Yes | true |
10080184 | Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. | The secreted polypeptide noggin (encoded by the Nog gene) binds and inactivates members of the transforming growth factor beta superfamily of signalling proteins (TGFbeta-FMs), such as BMP4 (ref. 1). By diffusing through extracellular matrices more efficiently than TGFbeta-FMs, noggin may have a principal role in crea... | Heterozygous mutations in the gene encoding /"noggin"/ affect human joint morphogenesis. | The secreted polypeptide /"noggin"/ (encoded by the /"Nog"/ gene) binds and inactivates members of the /"transforming growth factor beta superfamily of signalling proteins"/ (/"TGFbeta-FMs"/), such as BMP4 (ref. 1). By diffusing through extracellular matrices more efficiently than /"TGFbeta-FMs"/, /"noggin"/ may have ... | [
{
"begin_idx": "713",
"end_idx": "735",
"entity_id": "C536223",
"entity_type": "Disease",
"text_name": "proximal symphalangism"
},
{
"begin_idx": "879",
"end_idx": "907",
"entity_id": "C536943",
"entity_type": "Disease",
"text_name": "multiple synostoses syndrome"
},
... | {
"begin_idx": "909",
"end_idx": "914",
"entity_id": "9241",
"entity_type": "Gene",
"text_name": "SYNS1"
} | {
"begin_idx": "351",
"end_idx": "362",
"entity_id": "D006130",
"entity_type": "Disease",
"text_name": "TGFbeta-FMs"
} | No | true |
10082481 | Structure of the type B human natriuretic peptide receptor gene and association of a novel microsatellite polymorphism with essential hypertension. | The natriuretic peptide (NP) system may play a crucial role in development of essential hypertension (EH). C-type NP dilates arteries and lowers blood pressure and inhibits proliferation of vascular smooth muscle cells via the type B NP receptor (NPR-B). However, the association of the human NPR-B gene with EH has not... | Structure of the type B human natriuretic peptide receptor gene and association of a novel microsatellite polymorphism with /"essential hypertension"/. | The natriuretic peptide (NP) system may play a crucial role in development of /"essential hypertension"/ (/"EH"/). C-type NP dilates arteries and lowers blood pressure and inhibits proliferation of vascular smooth muscle cells via the type B NP receptor (/"NPR-B"/). However, the association of the human /"NPR-B"/ gene... | [
{
"begin_idx": "124",
"end_idx": "146",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "essential hypertension"
},
{
"begin_idx": "226",
"end_idx": "248",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "essential hypertension"
},
{
... | {
"begin_idx": "395",
"end_idx": "400",
"entity_id": "4882",
"entity_type": "Gene",
"text_name": "NPR-B"
} | {
"begin_idx": "124",
"end_idx": "146",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "essential hypertension"
} | Yes | true |
10082481 | Structure of the type B human natriuretic peptide receptor gene and association of a novel microsatellite polymorphism with essential hypertension. | The natriuretic peptide (NP) system may play a crucial role in development of essential hypertension (EH). C-type NP dilates arteries and lowers blood pressure and inhibits proliferation of vascular smooth muscle cells via the type B NP receptor (NPR-B). However, the association of the human NPR-B gene with EH has not... | Structure of the type B human natriuretic peptide receptor gene and association of a novel microsatellite polymorphism with essential hypertension. | The natriuretic peptide (NP) system may play a crucial role in development of essential hypertension (EH). C-type NP dilates arteries and lowers blood pressure and inhibits proliferation of vascular smooth muscle cells via the type B NP receptor (/"NPR-B"/). However, the association of the human /"NPR-B"/ gene with EH... | [
{
"begin_idx": "124",
"end_idx": "146",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "essential hypertension"
},
{
"begin_idx": "226",
"end_idx": "248",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "essential hypertension"
},
{
... | {
"begin_idx": "395",
"end_idx": "400",
"entity_id": "4882",
"entity_type": "Gene",
"text_name": "NPR-B"
} | {
"begin_idx": "2025",
"end_idx": "2027",
"entity_id": "D013915",
"entity_type": "Disease",
"text_name": "GT"
} | No | true |
10084318 | A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens. | Ichthyosis bullosa of Siemens (IBS) is a rare autosomal dominant skin disorder with clinical features similar to epidermolytic hyperkeratosis (EHK). Both diseases have been linked to the type II keratin cluster on chromosome 12q. Hyperkeratosis and blister formation are relatively mild in IBS compared with EHK, and th... | A novel mutation in the 1A domain of /"keratin 2e"/ in /"ichthyosis bullosa of Siemens"/. | /"Ichthyosis bullosa of Siemens"/ (/"IBS"/) is a rare autosomal dominant skin disorder with clinical features similar to epidermolytic hyperkeratosis (EHK). Both diseases have been linked to the type II keratin cluster on chromosome 12q. Hyperkeratosis and blister formation are relatively mild in /"IBS"/ compared with... | [
{
"begin_idx": "331",
"end_idx": "338",
"entity_id": "D001768",
"entity_type": "Disease",
"text_name": "blister"
},
{
"begin_idx": "195",
"end_idx": "223",
"entity_id": "D017488",
"entity_type": "Disease",
"text_name": "epidermolytic hyperkeratosis"
},
{
"begin_id... | {
"begin_idx": "37",
"end_idx": "47",
"entity_id": "3849",
"entity_type": "Gene",
"text_name": "keratin 2e"
} | {
"begin_idx": "51",
"end_idx": "80",
"entity_id": "D053560",
"entity_type": "Disease",
"text_name": "ichthyosis bullosa of Siemens"
} | Yes | true |
10084318 | A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens. | Ichthyosis bullosa of Siemens (IBS) is a rare autosomal dominant skin disorder with clinical features similar to epidermolytic hyperkeratosis (EHK). Both diseases have been linked to the type II keratin cluster on chromosome 12q. Hyperkeratosis and blister formation are relatively mild in IBS compared with EHK, and th... | A novel mutation in the 1A domain of /"keratin 2e"/ in ichthyosis bullosa of Siemens. | Ichthyosis bullosa of Siemens (IBS) is a rare autosomal dominant skin disorder with clinical features similar to /"epidermolytic hyperkeratosis"/ (/"EHK"/). Both diseases have been linked to the type II keratin cluster on chromosome 12q. /"Hyperkeratosis"/ and blister formation are relatively mild in IBS compared with... | [
{
"begin_idx": "331",
"end_idx": "338",
"entity_id": "D001768",
"entity_type": "Disease",
"text_name": "blister"
},
{
"begin_idx": "195",
"end_idx": "223",
"entity_id": "D017488",
"entity_type": "Disease",
"text_name": "epidermolytic hyperkeratosis"
},
{
"begin_id... | {
"begin_idx": "641",
"end_idx": "651",
"entity_id": "3849",
"entity_type": "Gene",
"text_name": "keratin 2e"
} | {
"begin_idx": "312",
"end_idx": "326",
"entity_id": "D017488",
"entity_type": "Disease",
"text_name": "Hyperkeratosis"
} | No | false |
10084598 | The hepatic nuclear factor-1alpha G319S variant is associated with early-onset type 2 diabetes in Canadian Oji-Cree. | Mutations in the gene encoding hepatic nuclear factor-1alpha (HNF-1alpha) have been found in patients with maturity-onset diabetes of the young. We identified a new variant in the HNF-1alpha gene, namely G319S, in Ontario Oji-Cree with type 2 diabetes. G319S is within the proline II-rich domain of the trans-activation... | The hepatic nuclear factor-1alpha G319S variant is associated with early-onset type 2 diabetes in Canadian Oji-Cree. | Mutations in the gene encoding hepatic nuclear factor-1alpha (/"HNF-1alpha"/) have been found in patients with /"maturity"/-onset diabetes of the young. We identified a new variant in the /"HNF-1alpha"/ gene, namely G319S, in Ontario Oji-Cree with type 2 diabetes. G319S is within the proline II-rich domain of the tran... | [
{
"begin_idx": "86",
"end_idx": "94",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
},
{
"begin_idx": "239",
"end_idx": "260",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes of the young"
},
{
"begin_idx": "360... | {
"begin_idx": "179",
"end_idx": "189",
"entity_id": "6927",
"entity_type": "Gene",
"text_name": "HNF-1alpha"
} | {
"begin_idx": "885",
"end_idx": "905",
"entity_id": "D003924",
"entity_type": "Disease",
"text_name": "type 2 diabetes of 4"
} | Yes | true |
10084598 | The hepatic nuclear factor-1alpha G319S variant is associated with early-onset type 2 diabetes in Canadian Oji-Cree. | Mutations in the gene encoding hepatic nuclear factor-1alpha (HNF-1alpha) have been found in patients with maturity-onset diabetes of the young. We identified a new variant in the HNF-1alpha gene, namely G319S, in Ontario Oji-Cree with type 2 diabetes. G319S is within the proline II-rich domain of the trans-activation... | The hepatic nuclear factor-1alpha G319S variant is associated with early-onset /"type"/ 2 diabetes in Canadian Oji-Cree. | Mutations in the gene encoding hepatic nuclear factor-1alpha (/"HNF-1alpha"/) have been found in patients with maturity-onset diabetes of the young. We identified a new variant in the /"HNF-1alpha"/ gene, namely G319S, in Ontario Oji-Cree with /"type"/ 2 diabetes. G319S is within the proline II-rich domain of the tran... | [
{
"begin_idx": "86",
"end_idx": "94",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
},
{
"begin_idx": "239",
"end_idx": "260",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes of the young"
},
{
"begin_idx": "360... | {
"begin_idx": "179",
"end_idx": "189",
"entity_id": "6927",
"entity_type": "Gene",
"text_name": "HNF-1alpha"
} | {
"begin_idx": "79",
"end_idx": "83",
"entity_id": "D017827",
"entity_type": "Disease",
"text_name": "type"
} | No | true |
10089893 | Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish Bernard-Soulier syndrome families. | Bernard-Soulier syndrome (BSS) is a rare hereditary bleeding disorder and macrothrombocytopenia which is caused by a defect in the platelet glycoprotein Ib/IX/V (GP Ib/IX/V) complex, the receptor for von Willebrand factor and thrombin. Here we report the molecular basis of the classical form of BSS in two unrelated Fi... | Molecular characterization of two mutations in platelet /"glycoprotein (GP) Ib alpha"/ in two Finnish /"Bernard-Soulier syndrome"/ families. | /"Bernard-Soulier syndrome"/ (/"BSS"/) is a rare hereditary bleeding disorder and macrothrombocytopenia which is caused by a defect in the platelet glycoprotein Ib/IX/V (GP Ib/IX/V) complex, the receptor for von Willebrand factor and thrombin. Here we report the molecular basis of the classical form of /"BSS"/ in two ... | [
{
"begin_idx": "207",
"end_idx": "228",
"entity_id": "C564525",
"entity_type": "Disease",
"text_name": "macrothrombocytopenia"
},
{
"begin_idx": "98",
"end_idx": "122",
"entity_id": "D001606",
"entity_type": "Disease",
"text_name": "Bernard-Soulier syndrome"
},
{
... | {
"begin_idx": "56",
"end_idx": "82",
"entity_id": "2811",
"entity_type": "Gene",
"text_name": "glycoprotein (GP) Ib alpha"
} | {
"begin_idx": "98",
"end_idx": "122",
"entity_id": "D001606",
"entity_type": "Disease",
"text_name": "Bernard-Soulier syndrome"
} | Yes | true |
10089893 | Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish Bernard-Soulier syndrome families. | Bernard-Soulier syndrome (BSS) is a rare hereditary bleeding disorder and macrothrombocytopenia which is caused by a defect in the platelet glycoprotein Ib/IX/V (GP Ib/IX/V) complex, the receptor for von Willebrand factor and thrombin. Here we report the molecular basis of the classical form of BSS in two unrelated Fi... | Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish /"Bernard-Soulier syndrome"/ families. | /"Bernard-Soulier syndrome"/ (/"BSS"/) is a rare hereditary bleeding disorder and macrothrombocytopenia which is caused by a defect in the platelet glycoprotein Ib/IX/V (GP Ib/IX/V) complex, the receptor for von Willebrand factor and thrombin. Here we report the molecular basis of the classical form of /"BSS"/ in two ... | [
{
"begin_idx": "207",
"end_idx": "228",
"entity_id": "C564525",
"entity_type": "Disease",
"text_name": "macrothrombocytopenia"
},
{
"begin_idx": "98",
"end_idx": "122",
"entity_id": "D001606",
"entity_type": "Disease",
"text_name": "Bernard-Soulier syndrome"
},
{
... | {
"begin_idx": "613",
"end_idx": "618",
"entity_id": "2815",
"entity_type": "Gene",
"text_name": "GP IX"
} | {
"begin_idx": "1144",
"end_idx": "1159",
"entity_id": "D001606",
"entity_type": "Disease",
"text_name": "Bernard-Soulier"
} | No | false |
10090345 | Reduction of myocardial infarct size by inhibition of inducible nitric oxide synthase. | The inducible nitric oxide synthase isoform (iNOS) is upregulated by cytokines and endotoxins in many types of cells, including cardiac myocytes. Nitric oxide (NO) induced by cytokines can be cytotoxic, and has been implicated in the pathophysiology of myocardial infarction, cardiomyopathy, and septic shock. To examin... | Reduction of /"myocardial infarct"/ size by inhibition of inducible nitric oxide synthase. | The inducible nitric oxide synthase isoform (/"iNOS"/) is upregulated by cytokines and endotoxins in many types of cells, including cardiac myocytes. Nitric oxide (NO) induced by cytokines can be cytotoxic, and has been implicated in the pathophysiology of /"myocardial infarction"/, cardiomyopathy, and septic shock. T... | [
{
"begin_idx": "645",
"end_idx": "652",
"entity_id": "D000860",
"entity_type": "Disease",
"text_name": "hypoxia"
},
{
"begin_idx": "1225",
"end_idx": "1232",
"entity_id": "D000860",
"entity_type": "Disease",
"text_name": "hypoxia"
},
{
"begin_idx": "1351",
"en... | {
"begin_idx": "132",
"end_idx": "136",
"entity_id": "4843",
"entity_type": "Gene",
"text_name": "iNOS"
} | {
"begin_idx": "340",
"end_idx": "361",
"entity_id": "D009203",
"entity_type": "Disease",
"text_name": "myocardial infarction"
} | Yes | true |
10090345 | Reduction of myocardial infarct size by inhibition of inducible nitric oxide synthase. | The inducible nitric oxide synthase isoform (iNOS) is upregulated by cytokines and endotoxins in many types of cells, including cardiac myocytes. Nitric oxide (NO) induced by cytokines can be cytotoxic, and has been implicated in the pathophysiology of myocardial infarction, cardiomyopathy, and septic shock. To examin... | Reduction of myocardial infarct size by inhibition of inducible nitric oxide synthase. | The inducible nitric oxide synthase isoform (/"iNOS"/) is upregulated by cytokines and endotoxins in many types of cells, including cardiac myocytes. Nitric oxide (NO) induced by cytokines can be cytotoxic, and has been implicated in the pathophysiology of myocardial infarction, /"cardiomyopathy"/, and septic shock. T... | [
{
"begin_idx": "645",
"end_idx": "652",
"entity_id": "D000860",
"entity_type": "Disease",
"text_name": "hypoxia"
},
{
"begin_idx": "1225",
"end_idx": "1232",
"entity_id": "D000860",
"entity_type": "Disease",
"text_name": "hypoxia"
},
{
"begin_idx": "1351",
"en... | {
"begin_idx": "1148",
"end_idx": "1152",
"entity_id": "4843",
"entity_type": "Gene",
"text_name": "iNOS"
} | {
"begin_idx": "363",
"end_idx": "377",
"entity_id": "D009202",
"entity_type": "Disease",
"text_name": "cardiomyopathy"
} | No | true |
10090472 | Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects. | Multiple endocrine neoplasia type 1 (MEN 1) is a familial cancer syndrome characterized by parathyroid hyperplasia, pituitary adenomas, and neuroendocrine tumors of the pancreas and duodenum. In 1997, the MEN1 tumor suppressor gene was identified, and numerous germline mutations have been reported to be distributed th... | Germline mutations in the /"multiple endocrine neoplasia type 1"/ 1"/ gene: evidence for frequent splicing defects. | /"Multiple endocrine neoplasia type 1"/ 1"/ (/"MEN 1"/ 1"/) is a familial cancer syndrome characterized by parathyroid hyperplasia, pituitary adenomas, and neuroendocrine tumors of the pancreas and duodenum. In 1997, the MEN1 tumor suppressor gene was identified, and numerous germline mutations have been reported to b... | [
{
"begin_idx": "157",
"end_idx": "181",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "familial cancer syndrome"
},
{
"begin_idx": "248",
"end_idx": "269",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "neuroendocrine tumors"
},
{
... | {
"begin_idx": "26",
"end_idx": "61",
"entity_id": "4221",
"entity_type": "Gene",
"text_name": "multiple endocrine neoplasia type 1"
} | {
"begin_idx": "26",
"end_idx": "61",
"entity_id": "D018761",
"entity_type": "Disease",
"text_name": "multiple endocrine neoplasia type 1"
} | Yes | true |
10090472 | Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects. | Multiple endocrine neoplasia type 1 (MEN 1) is a familial cancer syndrome characterized by parathyroid hyperplasia, pituitary adenomas, and neuroendocrine tumors of the pancreas and duodenum. In 1997, the MEN1 tumor suppressor gene was identified, and numerous germline mutations have been reported to be distributed th... | Germline mutations in the /"multiple endocrine neoplasia type 1"/ gene: evidence for frequent splicing defects. | /"Multiple endocrine neoplasia type 1"/ (/"MEN 1"/) is a familial cancer syndrome characterized by /"parathyroid hyperplasia"/, pituitary adenomas, and neuroendocrine tumors of the pancreas and duodenum. In 1997, the MEN1 tumor suppressor gene was identified, and numerous germline mutations have been reported to be di... | [
{
"begin_idx": "157",
"end_idx": "181",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "familial cancer syndrome"
},
{
"begin_idx": "248",
"end_idx": "269",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "neuroendocrine tumors"
},
{
... | {
"begin_idx": "600",
"end_idx": "605",
"entity_id": "4221",
"entity_type": "Gene",
"text_name": "MEN 1"
} | {
"begin_idx": "199",
"end_idx": "222",
"entity_id": "D010282",
"entity_type": "Disease",
"text_name": "parathyroid hyperplasia"
} | No | true |
10090474 | Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. | The deficiency of adenylosuccinate lyase (ADSL, also termed adenylosuccinase) is an autosomal recessive disorder characterized by the accumulation in body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most ADSL-deficient children display marked psychomotor delay,... | Mutation analysis in /"adenylosuccinate lyase deficiency"/: eight novel mutations in the re-evaluated full /"ADSL"/ coding sequence. | The /"deficiency of adenylosuccinate lyase"/se"/ (/"ADSL"/, also termed /"adenylosuccinase"/) is an autosomal recessive disorder characterized by the accumulation in body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most /"ADSL-deficient"/ children display marke... | [
{
"begin_idx": "21",
"end_idx": "54",
"entity_id": "C538235",
"entity_type": "Disease",
"text_name": "adenylosuccinate lyase deficiency"
},
{
"begin_idx": "129",
"end_idx": "165",
"entity_id": "C538235",
"entity_type": "Disease",
"text_name": "deficiency of adenylosuccina... | {
"begin_idx": "143",
"end_idx": "165",
"entity_id": "158",
"entity_type": "Gene",
"text_name": "adenylosuccinate lyase"
} | {
"begin_idx": "129",
"end_idx": "165",
"entity_id": "C538235",
"entity_type": "Disease",
"text_name": "deficiency of adenylosuccinate lyase"
} | Yes | true |
10090474 | Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. | The deficiency of adenylosuccinate lyase (ADSL, also termed adenylosuccinase) is an autosomal recessive disorder characterized by the accumulation in body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most ADSL-deficient children display marked psychomotor delay,... | Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full /"ADSL"/ coding sequence. | The deficiency of /"adenylosuccinate lyase"/ (/"ADSL"/, also termed /"adenylosuccinase"/) is an autosomal recessive disorder characterized by the accumulation in body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most ADSL-deficient children display marked psycho... | [
{
"begin_idx": "21",
"end_idx": "54",
"entity_id": "C538235",
"entity_type": "Disease",
"text_name": "adenylosuccinate lyase deficiency"
},
{
"begin_idx": "129",
"end_idx": "165",
"entity_id": "C538235",
"entity_type": "Disease",
"text_name": "deficiency of adenylosuccina... | {
"begin_idx": "103",
"end_idx": "107",
"entity_id": "158",
"entity_type": "Gene",
"text_name": "ADSL"
} | {
"begin_idx": "478",
"end_idx": "486",
"entity_id": "D001321",
"entity_type": "Disease",
"text_name": "autistic"
} | No | false |
10090484 | Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online. | In order to obtain a survey of the mutations being prevalent in Northern Germany and to enable molecular genetic testing for families with clinically diagnosed familial hypercholesterolemia (FH), we screened 46 unrelated German individuals with elevated LDL levels for mutations in the 18 exons and their flanking intro... | Mutation analysis in 46 German families with /"familial hypercholesterolemia"/ia"/: identification of 8 new mutations. Mutations in brief no. 226. Online. | In order to obtain a survey of the mutations being prevalent in Northern Germany and to enable molecular genetic testing for families with clinically diagnosed /"familial hypercholesterolemia"/ia"/ (/"FH"/FH"/), we screened 46 unrelated German individuals with elevated LDL levels for mutations in the 18 exons and thei... | [
{
"begin_idx": "45",
"end_idx": "74",
"entity_id": "D006938",
"entity_type": "Disease",
"text_name": "familial hypercholesterolemia"
},
{
"begin_idx": "307",
"end_idx": "336",
"entity_id": "D006938",
"entity_type": "Disease",
"text_name": "familial hypercholesterolemia"
... | {
"begin_idx": "45",
"end_idx": "74",
"entity_id": "3949",
"entity_type": "Gene",
"text_name": "familial hypercholesterolemia"
} | {
"begin_idx": "45",
"end_idx": "74",
"entity_id": "D006938",
"entity_type": "Disease",
"text_name": "familial hypercholesterolemia"
} | Yes | true |
10090484 | Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online. | In order to obtain a survey of the mutations being prevalent in Northern Germany and to enable molecular genetic testing for families with clinically diagnosed familial hypercholesterolemia (FH), we screened 46 unrelated German individuals with elevated LDL levels for mutations in the 18 exons and their flanking intro... | Mutation analysis in 46 German families with /"familial hypercholesterolemia"/: identification of 8 new mutations. Mutations in brief no. 226. Online. | In order to obtain a survey of the mutations being prevalent in Northern Germany and to enable molecular genetic testing for families with clinically diagnosed /"familial hypercholesterolemia"/ (/"FH"/), we screened 46 unrelated German individuals with elevated LDL levels for mutations in the 18 exons and their flanki... | [
{
"begin_idx": "45",
"end_idx": "74",
"entity_id": "D006938",
"entity_type": "Disease",
"text_name": "familial hypercholesterolemia"
},
{
"begin_idx": "307",
"end_idx": "336",
"entity_id": "D006938",
"entity_type": "Disease",
"text_name": "familial hypercholesterolemia"
... | {
"begin_idx": "652",
"end_idx": "660",
"entity_id": "338",
"entity_type": "Gene",
"text_name": "apoB-100"
} | {
"begin_idx": "338",
"end_idx": "340",
"entity_id": "D006938",
"entity_type": "Disease",
"text_name": "FH"
} | No | false |
10090526 | The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A. | A large Russian family with multiple cases of Fabry disease in several generations is presented. Fourteen family members were clinico-biochemically examined. Among 12 adult children (19-32 years old) of one couple, five sons manifested angiokeratotic skin lesions and other Fabry symptoms. Biochemical studies including... | The multiple cases of /"Fabry disease"/ in a Russian family caused by an E341K amino acid substitution in the /"alpha-galactosidase A"/. | A large Russian family with multiple cases of /"Fabry disease"/ in several generations is presented. Fourteen family members were clinico-biochemically examined. Among 12 adult children (19-32 years old) of one couple, five sons manifested angiokeratotic skin lesions and other /"Fabry symptoms"/. Biochemical studies i... | [
{
"begin_idx": "22",
"end_idx": "35",
"entity_id": "D000795",
"entity_type": "Disease",
"text_name": "Fabry disease"
},
{
"begin_idx": "175",
"end_idx": "188",
"entity_id": "D000795",
"entity_type": "Disease",
"text_name": "Fabry disease"
},
{
"begin_idx": "403",
... | {
"begin_idx": "106",
"end_idx": "127",
"entity_id": "2717",
"entity_type": "Gene",
"text_name": "alpha-galactosidase A"
} | {
"begin_idx": "403",
"end_idx": "417",
"entity_id": "D000795",
"entity_type": "Disease",
"text_name": "Fabry symptoms"
} | Yes | true |
10090526 | The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A. | A large Russian family with multiple cases of Fabry disease in several generations is presented. Fourteen family members were clinico-biochemically examined. Among 12 adult children (19-32 years old) of one couple, five sons manifested angiokeratotic skin lesions and other Fabry symptoms. Biochemical studies including... | The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the /"alpha-galactosidase A"/. | A large Russian family with multiple cases of Fabry disease in several generations is presented. Fourteen family members were clinico-biochemically examined. Among 12 adult children (19-32 years old) of one couple, five sons manifested angiokeratotic /"skin lesions"/ and other Fabry symptoms. Biochemical studies inclu... | [
{
"begin_idx": "22",
"end_idx": "35",
"entity_id": "D000795",
"entity_type": "Disease",
"text_name": "Fabry disease"
},
{
"begin_idx": "175",
"end_idx": "188",
"entity_id": "D000795",
"entity_type": "Disease",
"text_name": "Fabry disease"
},
{
"begin_idx": "403",
... | {
"begin_idx": "106",
"end_idx": "127",
"entity_id": "2717",
"entity_type": "Gene",
"text_name": "alpha-galactosidase A"
} | {
"begin_idx": "380",
"end_idx": "392",
"entity_id": "D012871",
"entity_type": "Disease",
"text_name": "skin lesions"
} | No | false |
10090529 | A single strand conformation polymorphism/heteroduplex (SSCP/HD) method for detection of mutations in 15 exons of the KVLQT1 gene, associated with long QT syndrome. | Congenital long QT syndrome (LQTS) is characterised by prolongation of the QT interval on ECG and cardiac arrhythmias, syncopes and sudden death. A rapid and reliable genetic diagnosis of the disease may be of great importance for diagnosis and treatment of LQTS. Mutations in the KVLQT1 gene, encoding a potassium-chan... | A single strand conformation polymorphism/heteroduplex (SSCP/HD) method for detection of mutations in 15 exons of the /"KVLQT1"/ gene, associated with /"long QT syndrome"/. | /"Congenital long QT syndrome"/ (/"LQTS"/) is characterised by prolongation of the QT interval on ECG and cardiac arrhythmias, syncopes and sudden death. A rapid and reliable genetic diagnosis of the disease may be of great importance for diagnosis and treatment of /"LQTS"/. Mutations in the /"KVLQT1"/ gene, encoding ... | [
{
"begin_idx": "263",
"end_idx": "282",
"entity_id": "D001145",
"entity_type": "Disease",
"text_name": "cardiac arrhythmias"
},
{
"begin_idx": "297",
"end_idx": "309",
"entity_id": "D003645",
"entity_type": "Disease",
"text_name": "sudden death"
},
{
"begin_idx": ... | {
"begin_idx": "118",
"end_idx": "124",
"entity_id": "3784",
"entity_type": "Gene",
"text_name": "KVLQT1"
} | {
"begin_idx": "165",
"end_idx": "192",
"entity_id": "D008133",
"entity_type": "Disease",
"text_name": "Congenital long QT syndrome"
} | Yes | true |
10090529 | A single strand conformation polymorphism/heteroduplex (SSCP/HD) method for detection of mutations in 15 exons of the KVLQT1 gene, associated with long QT syndrome. | Congenital long QT syndrome (LQTS) is characterised by prolongation of the QT interval on ECG and cardiac arrhythmias, syncopes and sudden death. A rapid and reliable genetic diagnosis of the disease may be of great importance for diagnosis and treatment of LQTS. Mutations in the KVLQT1 gene, encoding a potassium-chan... | A single strand conformation polymorphism/heteroduplex (SSCP//"HD"/) method for detection of mutations in 15 exons of the /"KVLQT1"/ gene, associated with long QT syndrome. | Congenital long QT syndrome (LQTS) is characterised by prolongation of the QT interval on ECG and cardiac arrhythmias, syncopes and sudden death. A rapid and reliable genetic diagnosis of the disease may be of great importance for diagnosis and treatment of LQTS. Mutations in the /"KVLQT1"/ gene, encoding a potassium-... | [
{
"begin_idx": "263",
"end_idx": "282",
"entity_id": "D001145",
"entity_type": "Disease",
"text_name": "cardiac arrhythmias"
},
{
"begin_idx": "297",
"end_idx": "309",
"entity_id": "D003645",
"entity_type": "Disease",
"text_name": "sudden death"
},
{
"begin_idx": ... | {
"begin_idx": "634",
"end_idx": "640",
"entity_id": "3784",
"entity_type": "Gene",
"text_name": "KvLQT1"
} | {
"begin_idx": "61",
"end_idx": "63",
"entity_id": "D006816",
"entity_type": "Disease",
"text_name": "HD"
} | No | true |
10090885 | Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. | Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of lymphocyte homeostasis and immunological tolerance. Most patients have a heterozygous mutation in the APT1 gene, which encodes Fas (CD95, APO-1), mediator of an apoptotic pathway crucial to lymphocyte homeostasis. Of 17 unique APT1 mutations in unrelated ... | /"Autoimmune lymphoproliferative syndrome"/ with defective Fas: genotype influences penetrance. | /"Autoimmune lymphoproliferative syndrome"/ (/"ALPS"/) is a disorder of lymphocyte homeostasis and immunological tolerance. Most patients have a heterozygous mutation in the /"APT1"/ gene, which encodes Fas (/"CD95"/, /"APO-1"/), mediator of an apoptotic pathway crucial to lymphocyte homeostasis. Of 17 unique /"APT1"/... | [
{
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"entity_id": "D007154",
"entity_type": "Disease",
"text_name": "disorder of lymphocyte homeostasis and immunological tolerance"
},
{
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"entity_id": "D056735",
"entity_type": "Disease",
"text_name": "... | {
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"entity_type": "Gene",
"text_name": "APO-1"
} | {
"begin_idx": "0",
"end_idx": "39",
"entity_id": "D056735",
"entity_type": "Disease",
"text_name": "Autoimmune lymphoproliferative syndrome"
} | Yes | true |
10090885 | Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. | Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of lymphocyte homeostasis and immunological tolerance. Most patients have a heterozygous mutation in the APT1 gene, which encodes Fas (CD95, APO-1), mediator of an apoptotic pathway crucial to lymphocyte homeostasis. Of 17 unique APT1 mutations in unrelated ... | Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. | Autoimmune lymphoproliferative syndrome (ALPS) is a /"disorder of lymphocyte homeostasis and immunological tolerance"/. Most patients have a heterozygous mutation in the /"APT1"/ gene, which encodes Fas (/"CD95"/, /"APO-1"/), mediator of an apoptotic pathway crucial to lymphocyte homeostasis. Of 17 unique /"APT1"/ mut... | [
{
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"end_idx": "206",
"entity_id": "D007154",
"entity_type": "Disease",
"text_name": "disorder of lymphocyte homeostasis and immunological tolerance"
},
{
"begin_idx": "0",
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"entity_id": "D056735",
"entity_type": "Disease",
"text_name": "... | {
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"entity_id": "355",
"entity_type": "Gene",
"text_name": "APT1"
} | {
"begin_idx": "144",
"end_idx": "206",
"entity_id": "D007154",
"entity_type": "Disease",
"text_name": "disorder of lymphocyte homeostasis and immunological tolerance"
} | No | false |
10092513 | Paradoxical decrease of an adipose-specific protein, adiponectin, in obesity. | We isolated the human adipose-specific and most abundant gene transcript, apM1 (Maeda, K., et al., Biochem. Biophys. Res. Commun. 221, 286-289, 1996). The apM1 gene product was a kind of soluble matrix protein, which we named adiponectin. To quantitate the plasma adiponectin concentration, we have produced monoclonal ... | Paradoxical decrease of an adipose-specific protein, /"adiponectin"/, in /"obesity"/. | We isolated the human adipose-specific and most abundant gene transcript, /"apM1"/ (Maeda, K., et al., Biochem. Biophys. Res. Commun. 221, 286-289, 1996). The /"apM1"/ gene product was a kind of soluble matrix protein, which we named /"adiponectin"/. To quantitate the plasma /"adiponectin"/ concentration, we have prod... | [
{
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"end_idx": "76",
"entity_id": "D009765",
"entity_type": "Disease",
"text_name": "obesity"
},
{
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"end_idx": "64",
"entity_id": "9370",
"entity_type": "Gene",
"text_name": "adiponectin"
},
{
"begin_idx": "152",
"end_idx": "... | {
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"end_idx": "64",
"entity_id": "9370",
"entity_type": "Gene",
"text_name": "adiponectin"
} | {
"begin_idx": "69",
"end_idx": "76",
"entity_id": "D009765",
"entity_type": "Disease",
"text_name": "obesity"
} | Yes | true |
10094187 | Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS). | Coffin-Lowry syndrome (CLS) is an X-linked disorder characterized by facial dysmorphism, digit abnormalities and severe psychomotor retardation. CLS had previously been mapped to Xp22.2. Recently, mutations in the ribosomal S6 kinase (Rsk-2) gene were shown to be associated with CLS. We have tested five unrelated indi... | Novel mutations in /"Rsk-2"/, the gene for /"Coffin-Lowry syndrome"/ (/"CLS"/). | /"Coffin-Lowry syndrome"/ (/"CLS"/) is an X-linked disorder characterized by facial dysmorphism, digit abnormalities and severe psychomotor retardation. /"CLS"/ had previously been mapped to Xp22.2. Recently, mutations in the ribosomal S6 kinase (/"Rsk-2"/) gene were shown to be associated with /"CLS"/. We have tested... | [
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"entity_id": "D011596",
"entity_type": "Disease",
"text_name": "psychomotor retardation"
},
{
"be... | {
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} | {
"begin_idx": "39",
"end_idx": "60",
"entity_id": "D038921",
"entity_type": "Disease",
"text_name": "Coffin-Lowry syndrome"
} | Yes | true |
10094187 | Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS). | Coffin-Lowry syndrome (CLS) is an X-linked disorder characterized by facial dysmorphism, digit abnormalities and severe psychomotor retardation. CLS had previously been mapped to Xp22.2. Recently, mutations in the ribosomal S6 kinase (Rsk-2) gene were shown to be associated with CLS. We have tested five unrelated indi... | Novel mutations in /"Rsk-2"/, the gene for Coffin-Lowry syndrome (CLS). | Coffin-Lowry syndrome (CLS) is an X-linked disorder characterized by /"facial dysmorphism"/, digit abnormalities and severe psychomotor retardation. CLS had previously been mapped to Xp22.2. Recently, mutations in the ribosomal S6 kinase (/"Rsk-2"/) gene were shown to be associated with CLS. We have tested five unrela... | [
{
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"entity_id": "D000013",
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},
{
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"entity_type": "Disease",
"text_name": "psychomotor retardation"
},
{
"be... | {
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"entity_id": "6197",
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} | {
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"entity_id": "D000013",
"entity_type": "Disease",
"text_name": "facial dysmorphism"
} | No | false |
10094189 | Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. | Sanfilippo B syndrome (mucopolysaccharidosis IIIB, MPS IIIB) is caused by a deficiency of alpha-N-acetylglucosaminidase, a lysosomal enzyme involved in the degradation of heparan sulphate. Accumulation of the substrate in lysosomes leads to degeneration of the central nervous system with progressive dementia often com... | Sanfilippo type B syndrome (/"mucopolysaccharidosis III B"/): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. | /"Sanfilippo B syndrome"/ (/"mucopolysaccharidosis IIIB"/, /"MPS IIIB"/IB"/) is caused by a deficiency of alpha-N-acetylglucosaminidase, a lysosomal enzyme involved in the degradation of heparan sulphate. Accumulation of the substrate in lysosomes leads to degeneration of the central nervous system with progressive de... | [
{
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"end_idx": "505",
"entity_id": "D001523",
"entity_type": "Disease",
"text_name": "aggressive behaviour"
},
{
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"end_idx": "446",
"entity_id": "D003704",
"entity_type": "Disease",
"text_name": "dementia"
},
{
"begin_idx": "46... | {
"begin_idx": "188",
"end_idx": "196",
"entity_id": "4669",
"entity_type": "Gene",
"text_name": "MPS IIIB"
} | {
"begin_idx": "28",
"end_idx": "55",
"entity_id": "D009084",
"entity_type": "Disease",
"text_name": "mucopolysaccharidosis III B"
} | Yes | true |
10094189 | Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. | Sanfilippo B syndrome (mucopolysaccharidosis IIIB, MPS IIIB) is caused by a deficiency of alpha-N-acetylglucosaminidase, a lysosomal enzyme involved in the degradation of heparan sulphate. Accumulation of the substrate in lysosomes leads to degeneration of the central nervous system with progressive dementia often com... | Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. | Sanfilippo B syndrome (mucopolysaccharidosis IIIB, /"MPS IIIB"/) is caused by a deficiency of alpha-N-acetylglucosaminidase, a lysosomal enzyme involved in the degradation of heparan sulphate. Accumulation of the substrate in lysosomes leads to degeneration of the central nervous system with progressive /"dementia"/ o... | [
{
"begin_idx": "485",
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"entity_id": "D001523",
"entity_type": "Disease",
"text_name": "aggressive behaviour"
},
{
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"end_idx": "446",
"entity_id": "D003704",
"entity_type": "Disease",
"text_name": "dementia"
},
{
"begin_idx": "46... | {
"begin_idx": "188",
"end_idx": "196",
"entity_id": "4669",
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"text_name": "MPS IIIB"
} | {
"begin_idx": "438",
"end_idx": "446",
"entity_id": "D003704",
"entity_type": "Disease",
"text_name": "dementia"
} | No | false |
10099885 | The DD genotype of the ACE gene polymorphism is associated with progression of diabetic nephropathy to end stage renal failure in IDDM. | BACKGROUND: The insertion-deletion (I/D) polymorphism of the angiotensin converting enzyme gene is a diallelic polymorphism that constitutes a genetic influence on the progression of renal diseases such as IgA nephropathy. Patients with the DD genotype have an accelerated progression towards end stage renal failure in... | The DD genotype of the /"ACE"/ gene polymorphism is associated with progression of /"diabetic nephropathy"/ to end stage renal failure in IDDM. | BACKGROUND: The insertion-deletion (I/D) polymorphism of the /"angiotensin converting enzyme"/ gene is a diallelic polymorphism that constitutes a genetic influence on the progression of renal diseases such as IgA nephropathy. Patients with the DD genotype have an accelerated progression towards end stage renal failur... | [
{
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"entity_id": "C536170",
"entity_type": "Disease",
"text_name": "DD"
},
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"entity_id": "C536170",
"entity_type": "Disease",
"text_name": "DD"
},
{
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... | {
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"text_name": "angiotensin converting enzyme"
} | {
"begin_idx": "79",
"end_idx": "99",
"entity_id": "D003928",
"entity_type": "Disease",
"text_name": "diabetic nephropathy"
} | Yes | true |
10099885 | The DD genotype of the ACE gene polymorphism is associated with progression of diabetic nephropathy to end stage renal failure in IDDM. | BACKGROUND: The insertion-deletion (I/D) polymorphism of the angiotensin converting enzyme gene is a diallelic polymorphism that constitutes a genetic influence on the progression of renal diseases such as IgA nephropathy. Patients with the DD genotype have an accelerated progression towards end stage renal failure in... | The DD genotype of the /"ACE"/ gene polymorphism is associated with progression of diabetic nephropathy to end stage renal failure in IDDM. | BACKGROUND: The insertion-deletion (I/D) polymorphism of the /"angiotensin converting enzyme"/ gene is a diallelic polymorphism that constitutes a genetic influence on the progression of renal diseases such as IgA nephropathy. Patients with the DD genotype have an accelerated progression towards end stage renal failur... | [
{
"begin_idx": "4",
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"entity_id": "C536170",
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"text_name": "DD"
},
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"entity_id": "C536170",
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{
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... | {
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"text_name": "angiotensin converting enzyme"
} | {
"begin_idx": "1856",
"end_idx": "1879",
"entity_id": "D007676",
"entity_type": "Disease",
"text_name": "end-stage renal failure"
} | Yes | false |
10099885 | The DD genotype of the ACE gene polymorphism is associated with progression of diabetic nephropathy to end stage renal failure in IDDM. | BACKGROUND: The insertion-deletion (I/D) polymorphism of the angiotensin converting enzyme gene is a diallelic polymorphism that constitutes a genetic influence on the progression of renal diseases such as IgA nephropathy. Patients with the DD genotype have an accelerated progression towards end stage renal failure in... | The DD genotype of the /"ACE"/ gene polymorphism is associated with progression of diabetic nephropathy to end /"stage renal failure"/ in IDDM. | BACKGROUND: The insertion-deletion (I/D) polymorphism of the /"angiotensin converting enzyme"/ gene is a diallelic polymorphism that constitutes a genetic influence on the progression of renal diseases such as IgA nephropathy. Patients with the DD genotype have an accelerated progression towards end /"stage renal fail... | [
{
"begin_idx": "4",
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"entity_id": "C536170",
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},
{
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{
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... | {
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} | {
"begin_idx": "1532",
"end_idx": "1551",
"entity_id": "D051437",
"entity_type": "Disease",
"text_name": "stage renal failure"
} | No | true |
10099885 | The DD genotype of the ACE gene polymorphism is associated with progression of diabetic nephropathy to end stage renal failure in IDDM. | BACKGROUND: The insertion-deletion (I/D) polymorphism of the angiotensin converting enzyme gene is a diallelic polymorphism that constitutes a genetic influence on the progression of renal diseases such as IgA nephropathy. Patients with the DD genotype have an accelerated progression towards end stage renal failure in... | The DD genotype of the /"ACE"/ gene polymorphism is associated with progression of diabetic nephropathy to end stage renal failure in /"IDDM"/. | BACKGROUND: The insertion-deletion (I/D) polymorphism of the /"angiotensin converting enzyme"/ gene is a diallelic polymorphism that constitutes a genetic influence on the progression of renal diseases such as IgA nephropathy. Patients with the DD genotype have an accelerated progression towards end stage renal failur... | [
{
"begin_idx": "4",
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"entity_id": "C536170",
"entity_type": "Disease",
"text_name": "DD"
},
{
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"entity_id": "C536170",
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"text_name": "DD"
},
{
"begin_idx": "1194",
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... | {
"begin_idx": "197",
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"entity_id": "1636",
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"text_name": "angiotensin converting enzyme"
} | {
"begin_idx": "130",
"end_idx": "134",
"entity_id": "D003922",
"entity_type": "Disease",
"text_name": "IDDM"
} | No | true |
10102298 | Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. | PURPOSE: To determine the chromosomal location and to identify the gene causing a type of retinitis punctata albescens, called Bothnia dystrophy, found in a restricted geographic area in northern Sweden. METHODS: Twenty patients from seven families originating from a restricted geographic area in northern Sweden were ... | /"Bothnia dystrophy"/ caused by mutations in the /"cellular retinaldehyde-binding protein"/ gene (/"RLBP1"/) on chromosome 15q26. | PURPOSE: To determine the chromosomal location and to identify the gene causing a type of retinitis punctata albescens, called /"Bothnia dystrophy"/, found in a restricted geographic area in northern Sweden. METHODS: Twenty patients from seven families originating from a restricted geographic area in northern Sweden w... | [
{
"begin_idx": "208",
"end_idx": "236",
"entity_id": "C562733",
"entity_type": "Disease",
"text_name": "retinitis punctata albescens"
},
{
"begin_idx": "793",
"end_idx": "821",
"entity_id": "C562733",
"entity_type": "Disease",
"text_name": "retinitis punctata albescens"
... | {
"begin_idx": "45",
"end_idx": "83",
"entity_id": "6017",
"entity_type": "Gene",
"text_name": "cellular retinaldehyde-binding protein"
} | {
"begin_idx": "0",
"end_idx": "17",
"entity_id": "C564392",
"entity_type": "Disease",
"text_name": "Bothnia dystrophy"
} | Yes | true |
10102298 | Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. | PURPOSE: To determine the chromosomal location and to identify the gene causing a type of retinitis punctata albescens, called Bothnia dystrophy, found in a restricted geographic area in northern Sweden. METHODS: Twenty patients from seven families originating from a restricted geographic area in northern Sweden were ... | Bothnia dystrophy caused by mutations in the /"cellular retinaldehyde-binding protein"/ gene (/"RLBP1"/) on chromosome 15q26. | PURPOSE: To determine the chromosomal location and to identify the gene causing a type of retinitis punctata albescens, called Bothnia dystrophy, found in a restricted geographic area in northern Sweden. METHODS: Twenty patients from seven families originating from a restricted geographic area in northern Sweden were ... | [
{
"begin_idx": "208",
"end_idx": "236",
"entity_id": "C562733",
"entity_type": "Disease",
"text_name": "retinitis punctata albescens"
},
{
"begin_idx": "793",
"end_idx": "821",
"entity_id": "C562733",
"entity_type": "Disease",
"text_name": "retinitis punctata albescens"
... | {
"begin_idx": "90",
"end_idx": "95",
"entity_id": "6017",
"entity_type": "Gene",
"text_name": "RLBP1"
} | {
"begin_idx": "726",
"end_idx": "741",
"entity_id": "D009755",
"entity_type": "Disease",
"text_name": "night blindness"
} | No | false |
10102299 | Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. | PURPOSE: To determine the frequency and spectrum of mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein (CRALBP) in patients with hereditary retinal degeneration. METHODS: The single-strand conformation polymorphism (SSCP) technique and a direct genomic sequencing technique were used to screen ... | Recessive mutations in the /"RLBP1"/ gene encoding /"cellular retinaldehyde-binding protein"/ in a form of /"retinitis punctata albescens"/. | PURPOSE: To determine the frequency and spectrum of mutations in the /"RLBP1"/ gene encoding /"cellular retinaldehyde-binding protein"/ (/"CRALBP"/) in patients with hereditary retinal degeneration. METHODS: The single-strand conformation polymorphism (SSCP) technique and a direct genomic sequencing technique were use... | [
{
"begin_idx": "99",
"end_idx": "127",
"entity_id": "C562733",
"entity_type": "Disease",
"text_name": "retinitis punctata albescens"
},
{
"begin_idx": "578",
"end_idx": "606",
"entity_id": "C562733",
"entity_type": "Disease",
"text_name": "retinitis punctata albescens"
... | {
"begin_idx": "47",
"end_idx": "85",
"entity_id": "6017",
"entity_type": "Gene",
"text_name": "cellular retinaldehyde-binding protein"
} | {
"begin_idx": "99",
"end_idx": "127",
"entity_id": "C562733",
"entity_type": "Disease",
"text_name": "retinitis punctata albescens"
} | Yes | true |
10102299 | Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. | PURPOSE: To determine the frequency and spectrum of mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein (CRALBP) in patients with hereditary retinal degeneration. METHODS: The single-strand conformation polymorphism (SSCP) technique and a direct genomic sequencing technique were used to screen ... | Recessive mutations in the /"RLBP1"/ gene encoding /"cellular retinaldehyde-binding protein"/ in a form of retinitis punctata albescens. | PURPOSE: To determine the frequency and spectrum of mutations in the /"RLBP1"/ gene encoding /"cellular retinaldehyde-binding protein"/ (/"CRALBP"/) in patients with hereditary retinal degeneration. METHODS: The single-strand conformation polymorphism (SSCP) technique and a direct genomic sequencing technique were use... | [
{
"begin_idx": "99",
"end_idx": "127",
"entity_id": "C562733",
"entity_type": "Disease",
"text_name": "retinitis punctata albescens"
},
{
"begin_idx": "578",
"end_idx": "606",
"entity_id": "C562733",
"entity_type": "Disease",
"text_name": "retinitis punctata albescens"
... | {
"begin_idx": "1281",
"end_idx": "1286",
"entity_id": "6017",
"entity_type": "Gene",
"text_name": "RLBP1"
} | {
"begin_idx": "989",
"end_idx": "1039",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "recessively inherited retinitis punctata albescens"
} | No | false |
10190266 | Association of the 677C-->T mutation on the methylenetetrahydrofolate reductase gene in Turkish patients with neural tube defects. | We report the analysis of the 677C-->T mutation on the 5, 10-methylenetetrahydrofolate reductase gene in Turkish controls and cases of neural tube defects. Mutation analysis of 91 patients with neural tube defects, 72 mothers, 63 fathers, and 93 healthy controls has been made by polymerase chain reaction and allele sp... | Association of the 677C-->T mutation on the /"methylenetetrahydrofolate reductase"/ gene in Turkish patients with /"neural tube defects"/. | We report the analysis of the 677C-->T mutation on the 5, 10-/"methylenetetrahydrofolate reductase"/ gene in Turkish controls and cases of /"neural tube defects"/. Mutation analysis of 91 patients with /"neural tube defects"/, 72 mothers, 63 fathers, and 93 healthy controls has been made by polymerase chain reaction a... | [
{
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"end_idx": "129",
"entity_id": "D009436",
"entity_type": "Disease",
"text_name": "neural tube defects"
},
{
"begin_idx": "266",
"end_idx": "285",
"entity_id": "D009436",
"entity_type": "Disease",
"text_name": "neural tube defects"
},
{
"begin... | {
"begin_idx": "44",
"end_idx": "79",
"entity_id": "4524",
"entity_type": "Gene",
"text_name": "methylenetetrahydrofolate reductase"
} | {
"begin_idx": "110",
"end_idx": "129",
"entity_id": "D009436",
"entity_type": "Disease",
"text_name": "neural tube defects"
} | Yes | true |
10190325 | Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency. | Holocarboxylase synthetase deficiency (HCS) is an autosomal recessive disorder characterized by metabolic ketoacidosis, abnormal urine organic metabolites, and dermatitis. These symptoms are improved by pharmacological doses of biotin. In this study, we have analyzed seven patients with HCS deficiency found in Europea... | Identification and characterization of mutations in patients with /"holocarboxylase synthetase deficiency"/. | /"Holocarboxylase synthetase deficiency"/ (/"HCS"/CS"/) is an autosomal recessive disorder characterized by metabolic ketoacidosis, abnormal urine organic metabolites, and dermatitis. These symptoms are improved by pharmacological doses of biotin. In this study, we have analyzed seven patients with /"HCS deficiency"/ ... | [
{
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"end_idx": "275",
"entity_id": "D003872",
"entity_type": "Disease",
"text_name": "dermatitis"
},
{
"begin_idx": "201",
"end_idx": "223",
"entity_id": "D007662",
"entity_type": "Disease",
"text_name": "metabolic ketoacidosis"
},
{
"begin_idx":... | {
"begin_idx": "144",
"end_idx": "147",
"entity_id": "3141",
"entity_type": "Gene",
"text_name": "HCS"
} | {
"begin_idx": "66",
"end_idx": "103",
"entity_id": "D028922",
"entity_type": "Disease",
"text_name": "holocarboxylase synthetase deficiency"
} | Yes | true |
10190325 | Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency. | Holocarboxylase synthetase deficiency (HCS) is an autosomal recessive disorder characterized by metabolic ketoacidosis, abnormal urine organic metabolites, and dermatitis. These symptoms are improved by pharmacological doses of biotin. In this study, we have analyzed seven patients with HCS deficiency found in Europea... | Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency. | Holocarboxylase synthetase deficiency (/"HCS"/) is an /"autosomal recessive disorder"/ characterized by metabolic ketoacidosis, abnormal urine organic metabolites, and dermatitis. These symptoms are improved by pharmacological doses of biotin. In this study, we have analyzed seven patients with HCS deficiency found in... | [
{
"begin_idx": "265",
"end_idx": "275",
"entity_id": "D003872",
"entity_type": "Disease",
"text_name": "dermatitis"
},
{
"begin_idx": "201",
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"entity_id": "D007662",
"entity_type": "Disease",
"text_name": "metabolic ketoacidosis"
},
{
"begin_idx":... | {
"begin_idx": "1518",
"end_idx": "1521",
"entity_id": "3141",
"entity_type": "Gene",
"text_name": "HCS"
} | {
"begin_idx": "155",
"end_idx": "183",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "autosomal recessive disorder"
} | No | true |
10192380 | A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. | A mutation in /"NRL"/ is associated with /"autosomal dominant retinitis pigmentosa"/. | [
{
"begin_idx": "37",
"end_idx": "76",
"entity_id": "D012174",
"entity_type": "Disease",
"text_name": "autosomal dominant retinitis pigmentosa"
},
{
"begin_idx": "14",
"end_idx": "17",
"entity_id": "4901",
"entity_type": "Gene",
"text_name": "NRL"
}
] | {
"begin_idx": "14",
"end_idx": "17",
"entity_id": "4901",
"entity_type": "Gene",
"text_name": "NRL"
} | {
"begin_idx": "37",
"end_idx": "76",
"entity_id": "D012174",
"entity_type": "Disease",
"text_name": "autosomal dominant retinitis pigmentosa"
} | Yes | true | ||
10195814 | Association analysis of sequence variants of GABA(A) alpha6, beta2, and gamma2 gene cluster and alcohol dependence. | Quantitative trait analyses in mice suggest a vulnerability locus for physiological alcohol withdrawal severity on a chromosomal segment that harbors the genes encoding the alpha1, alpha6, beta2, and gamma2 subunits of the gamma-aminobutyric acid type-A receptor (GABR). We tested whether genetic variation at the human... | Association analysis of sequence variants of GABA(A) alpha6, beta2, and gamma2 gene cluster and /"alcohol dependence"/. | Quantitative trait analyses in mice suggest a vulnerability locus for physiological alcohol withdrawal severity on a chromosomal segment that harbors the genes encoding the alpha1, alpha6, beta2, and gamma2 subunits of the gamma-aminobutyric acid type-A receptor (GABR). We tested whether genetic variation at the human... | [
{
"begin_idx": "96",
"end_idx": "114",
"entity_id": "D000437",
"entity_type": "Disease",
"text_name": "alcohol dependence"
},
{
"begin_idx": "527",
"end_idx": "545",
"entity_id": "D000437",
"entity_type": "Disease",
"text_name": "alcohol dependence"
},
{
"begin_id... | {
"begin_idx": "635",
"end_idx": "641",
"entity_id": "2566",
"entity_type": "Gene",
"text_name": "GABRG2"
} | {
"begin_idx": "96",
"end_idx": "114",
"entity_id": "D000437",
"entity_type": "Disease",
"text_name": "alcohol dependence"
} | Yes | false |
10195814 | Association analysis of sequence variants of GABA(A) alpha6, beta2, and gamma2 gene cluster and alcohol dependence. | Quantitative trait analyses in mice suggest a vulnerability locus for physiological alcohol withdrawal severity on a chromosomal segment that harbors the genes encoding the alpha1, alpha6, beta2, and gamma2 subunits of the gamma-aminobutyric acid type-A receptor (GABR). We tested whether genetic variation at the human... | Association analysis of sequence variants of GABA(A) alpha6, beta2, and gamma2 gene cluster and /"alcohol dependence"/. | Quantitative trait analyses in mice suggest a vulnerability locus for physiological alcohol withdrawal severity on a chromosomal segment that harbors the genes encoding the alpha1, alpha6, beta2, and gamma2 subunits of the gamma-aminobutyric acid type-A receptor (GABR). We tested whether genetic variation at the human... | [
{
"begin_idx": "96",
"end_idx": "114",
"entity_id": "D000437",
"entity_type": "Disease",
"text_name": "alcohol dependence"
},
{
"begin_idx": "527",
"end_idx": "545",
"entity_id": "D000437",
"entity_type": "Disease",
"text_name": "alcohol dependence"
},
{
"begin_id... | {
"begin_idx": "615",
"end_idx": "621",
"entity_id": "2559",
"entity_type": "Gene",
"text_name": "GABRA6"
} | {
"begin_idx": "96",
"end_idx": "114",
"entity_id": "D000437",
"entity_type": "Disease",
"text_name": "alcohol dependence"
} | Yes | true |
10195814 | Association analysis of sequence variants of GABA(A) alpha6, beta2, and gamma2 gene cluster and alcohol dependence. | Quantitative trait analyses in mice suggest a vulnerability locus for physiological alcohol withdrawal severity on a chromosomal segment that harbors the genes encoding the alpha1, alpha6, beta2, and gamma2 subunits of the gamma-aminobutyric acid type-A receptor (GABR). We tested whether genetic variation at the human... | Association analysis of sequence variants of GABA(A) alpha6, beta2, and /"gamma2"/ gene cluster and alcohol dependence. | Quantitative trait analyses in mice suggest a vulnerability locus for physiological alcohol withdrawal severity on a chromosomal segment that harbors the genes encoding the alpha1, alpha6, beta2, and /"gamma2"/ subunits of the gamma-aminobutyric acid type-A receptor (GABR). We tested whether genetic variation at the h... | [
{
"begin_idx": "96",
"end_idx": "114",
"entity_id": "D000437",
"entity_type": "Disease",
"text_name": "alcohol dependence"
},
{
"begin_idx": "527",
"end_idx": "545",
"entity_id": "D000437",
"entity_type": "Disease",
"text_name": "alcohol dependence"
},
{
"begin_id... | {
"begin_idx": "316",
"end_idx": "322",
"entity_id": "7453",
"entity_type": "Gene",
"text_name": "gamma2"
} | {
"begin_idx": "885",
"end_idx": "892",
"entity_id": "D012640",
"entity_type": "Disease",
"text_name": "seizure"
} | No | false |
10195814 | Association analysis of sequence variants of GABA(A) alpha6, beta2, and gamma2 gene cluster and alcohol dependence. | Quantitative trait analyses in mice suggest a vulnerability locus for physiological alcohol withdrawal severity on a chromosomal segment that harbors the genes encoding the alpha1, alpha6, beta2, and gamma2 subunits of the gamma-aminobutyric acid type-A receptor (GABR). We tested whether genetic variation at the human... | Association analysis of sequence variants of GABA(A) alpha6, beta2, and /"gamma2"/ gene cluster and /"alcohol dependence"/. | Quantitative trait analyses in mice suggest a vulnerability locus for physiological alcohol withdrawal severity on a chromosomal segment that harbors the genes encoding the alpha1, alpha6, beta2, and /"gamma2"/ subunits of the gamma-aminobutyric acid type-A receptor (GABR). We tested whether genetic variation at the h... | [
{
"begin_idx": "96",
"end_idx": "114",
"entity_id": "D000437",
"entity_type": "Disease",
"text_name": "alcohol dependence"
},
{
"begin_idx": "527",
"end_idx": "545",
"entity_id": "D000437",
"entity_type": "Disease",
"text_name": "alcohol dependence"
},
{
"begin_id... | {
"begin_idx": "72",
"end_idx": "78",
"entity_id": "7453",
"entity_type": "Gene",
"text_name": "gamma2"
} | {
"begin_idx": "527",
"end_idx": "545",
"entity_id": "D000437",
"entity_type": "Disease",
"text_name": "alcohol dependence"
} | No | true |
10196694 | An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity. | Sphingolipid activator proteins are small glycoproteins required for the degradation of sphingolipids by specific lysosomal hydrolases. Four of them, called saposins, are encoded by the prosaposin gene, the product of which is proteolytically cleaved into the four mature saposin proteins (saposins A, B, C, D). One of ... | An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity. | Sphingolipid activator proteins are small glycoproteins required for the degradation of sphingolipids by specific lysosomal hydrolases. Four of them, called saposins, are encoded by the /"prosaposin"/ gene, the product of which is proteolytically cleaved into the four mature saposin proteins (saposins A, B, C, D). One... | [
{
"begin_idx": "737",
"end_idx": "760",
"entity_id": "C562609",
"entity_type": "Disease",
"text_name": "deficiency of saposin B"
},
{
"begin_idx": "159",
"end_idx": "187",
"entity_id": "D007966",
"entity_type": "Disease",
"text_name": "metachromatic leukodystrophy"
},
... | {
"begin_idx": "412",
"end_idx": "422",
"entity_id": "5660",
"entity_type": "Gene",
"text_name": "prosaposin"
} | {
"begin_idx": "737",
"end_idx": "760",
"entity_id": "C562609",
"entity_type": "Disease",
"text_name": "deficiency of saposin B"
} | Yes | false |
10196694 | An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity. | Sphingolipid activator proteins are small glycoproteins required for the degradation of sphingolipids by specific lysosomal hydrolases. Four of them, called saposins, are encoded by the prosaposin gene, the product of which is proteolytically cleaved into the four mature saposin proteins (saposins A, B, C, D). One of ... | An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with /"metachromatic leukodystrophy"/ and normal arylsulphatase A activity. | Sphingolipid activator proteins are small glycoproteins required for the degradation of sphingolipids by specific lysosomal hydrolases. Four of them, called saposins, are encoded by the /"prosaposin"/ gene, the product of which is proteolytically cleaved into the four mature saposin proteins (saposins A, B, C, D). One... | [
{
"begin_idx": "737",
"end_idx": "760",
"entity_id": "C562609",
"entity_type": "Disease",
"text_name": "deficiency of saposin B"
},
{
"begin_idx": "159",
"end_idx": "187",
"entity_id": "D007966",
"entity_type": "Disease",
"text_name": "metachromatic leukodystrophy"
},
... | {
"begin_idx": "861",
"end_idx": "871",
"entity_id": "5660",
"entity_type": "Gene",
"text_name": "prosaposin"
} | {
"begin_idx": "895",
"end_idx": "923",
"entity_id": "D007966",
"entity_type": "Disease",
"text_name": "metachromatic leukodystrophy"
} | No | true |
10197076 | A cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism is associated with autoimmune Addison's disease in English patients. | OBJECTIVE: Recent studies have demonstrated an association between a microsatellite polymorphism of the CTLA-4 gene, specifically a 106 base pair allele, and both Graves' disease and autoimmune hypothyroidism. The aim of the present study was to determine whether the same polymorphism of the CTLA-4 gene was associated... | A /"cytotoxic T lymphocyte antigen-4"/ (/"CTLA-4"/) gene polymorphism is associated with /"autoimmune Addison's disease"/ in English patients. | OBJECTIVE: Recent studies have demonstrated an association between a microsatellite polymorphism of the /"CTLA-4"/ gene, specifically a 106 base pair allele, and both Graves' disease and autoimmune hypothyroidism. The aim of the present study was to determine whether the same polymorphism of the /"CTLA-4"/ gene was as... | [
{
"begin_idx": "314",
"end_idx": "339",
"entity_id": "C562768",
"entity_type": "Disease",
"text_name": "autoimmune hypothyroidism"
},
{
"begin_idx": "81",
"end_idx": "109",
"entity_id": "D000224",
"entity_type": "Disease",
"text_name": "autoimmune Addison's disease"
},
... | {
"begin_idx": "2",
"end_idx": "34",
"entity_id": "1493",
"entity_type": "Gene",
"text_name": "cytotoxic T lymphocyte antigen-4"
} | {
"begin_idx": "81",
"end_idx": "109",
"entity_id": "D000224",
"entity_type": "Disease",
"text_name": "autoimmune Addison's disease"
} | Yes | true |
10197076 | A cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism is associated with autoimmune Addison's disease in English patients. | OBJECTIVE: Recent studies have demonstrated an association between a microsatellite polymorphism of the CTLA-4 gene, specifically a 106 base pair allele, and both Graves' disease and autoimmune hypothyroidism. The aim of the present study was to determine whether the same polymorphism of the CTLA-4 gene was associated... | A cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism is associated with /"autoimmune Addison's disease"/ in English patients. | OBJECTIVE: Recent studies have demonstrated an association between a microsatellite polymorphism of the CTLA-4 gene, specifically a 106 base pair allele, and both Graves' disease and autoimmune hypothyroidism. The aim of the present study was to determine whether the same polymorphism of the CTLA-4 gene was associated... | [
{
"begin_idx": "314",
"end_idx": "339",
"entity_id": "C562768",
"entity_type": "Disease",
"text_name": "autoimmune hypothyroidism"
},
{
"begin_idx": "81",
"end_idx": "109",
"entity_id": "D000224",
"entity_type": "Disease",
"text_name": "autoimmune Addison's disease"
},
... | {
"begin_idx": "765",
"end_idx": "769",
"entity_id": "170685",
"entity_type": "Gene",
"text_name": "APS2"
} | {
"begin_idx": "696",
"end_idx": "713",
"entity_id": "D000224",
"entity_type": "Disease",
"text_name": "Addison's disease"
} | No | true |
10198369 | Insulin-like growth factor I improves renal function in patients with end-stage chronic renal failure. | There is no pharmacological treatment to increase the glomerular filtration rate in end-stage renal disease (ESRD). The administration of 100 microgram/kg of insulin-like growth factor (IGF) I twice a day to patients with ESRD increases inulin clearance. However, its effect is short-lived and IGF-I has major side effe... | Insulin-like growth factor I improves renal function in patients with end-stage chronic renal failure. | There is no pharmacological treatment to increase the glomerular filtration rate in /"end-stage renal disease"/ (/"ESRD"/). The administration of 100 microgram/kg of /"insulin-like growth factor (IGF) I"/ twice a day to patients with /"ESRD"/ increases inulin clearance. However, its effect is short-lived and /"IGF-I"/... | [
{
"begin_idx": "187",
"end_idx": "210",
"entity_id": "D007676",
"entity_type": "Disease",
"text_name": "end-stage renal disease"
},
{
"begin_idx": "212",
"end_idx": "216",
"entity_id": "D007676",
"entity_type": "Disease",
"text_name": "ESRD"
},
{
"begin_idx": "325... | {
"begin_idx": "261",
"end_idx": "295",
"entity_id": "3479",
"entity_type": "Gene",
"text_name": "insulin-like growth factor (IGF) I"
} | {
"begin_idx": "187",
"end_idx": "210",
"entity_id": "D007676",
"entity_type": "Disease",
"text_name": "end-stage renal disease"
} | Yes | true |
10198369 | Insulin-like growth factor I improves renal function in patients with end-stage chronic renal failure. | There is no pharmacological treatment to increase the glomerular filtration rate in end-stage renal disease (ESRD). The administration of 100 microgram/kg of insulin-like growth factor (IGF) I twice a day to patients with ESRD increases inulin clearance. However, its effect is short-lived and IGF-I has major side effe... | Insulin-like growth factor I improves renal function in patients with end-stage /"chronic renal failure"/. | There is no pharmacological treatment to increase the glomerular filtration rate in end-stage renal disease (ESRD). The administration of 100 microgram/kg of /"insulin-like growth factor (IGF) I"/ twice a day to patients with ESRD increases inulin clearance. However, its effect is short-lived and /"IGF-I"/ has major s... | [
{
"begin_idx": "187",
"end_idx": "210",
"entity_id": "D007676",
"entity_type": "Disease",
"text_name": "end-stage renal disease"
},
{
"begin_idx": "212",
"end_idx": "216",
"entity_id": "D007676",
"entity_type": "Disease",
"text_name": "ESRD"
},
{
"begin_idx": "325... | {
"begin_idx": "397",
"end_idx": "402",
"entity_id": "3479",
"entity_type": "Gene",
"text_name": "IGF-I"
} | {
"begin_idx": "80",
"end_idx": "101",
"entity_id": "D051437",
"entity_type": "Disease",
"text_name": "chronic renal failure"
} | No | false |
10201536 | A novel substitution in keratin 10 in epidermolytic hyperkeratosis. | Epidermolytic hyperkeratosis is characterized by tonofilament clumping, cytolysis, and blister formation in suprabasal keratinocytes. It has been shown that the tonofilament aggregates in these areas are composed of keratin 1 (K1) and keratin 10 (K10), and several K1 and K10 point mutations have been identified as the... | A novel substitution in /"keratin 10"/ in /"epidermolytic hyperkeratosis"/. | /"Epidermolytic hyperkeratosis"/ is characterized by tonofilament clumping, cytolysis, and blister formation in suprabasal keratinocytes. It has been shown that the tonofilament aggregates in these areas are composed of keratin 1 (K1) and /"keratin 10"/ (/"K10"/), and several K1 and /"K10"/ point mutations have been i... | [
{
"begin_idx": "155",
"end_idx": "162",
"entity_id": "D001768",
"entity_type": "Disease",
"text_name": "blister"
},
{
"begin_idx": "38",
"end_idx": "66",
"entity_id": "D017488",
"entity_type": "Disease",
"text_name": "epidermolytic hyperkeratosis"
},
{
"begin_idx"... | {
"begin_idx": "24",
"end_idx": "34",
"entity_id": "3858",
"entity_type": "Gene",
"text_name": "keratin 10"
} | {
"begin_idx": "38",
"end_idx": "66",
"entity_id": "D017488",
"entity_type": "Disease",
"text_name": "epidermolytic hyperkeratosis"
} | Yes | true |
10201536 | A novel substitution in keratin 10 in epidermolytic hyperkeratosis. | Epidermolytic hyperkeratosis is characterized by tonofilament clumping, cytolysis, and blister formation in suprabasal keratinocytes. It has been shown that the tonofilament aggregates in these areas are composed of keratin 1 (K1) and keratin 10 (K10), and several K1 and K10 point mutations have been identified as the... | A novel substitution in keratin 10 in epidermolytic hyperkeratosis. | Epidermolytic hyperkeratosis is characterized by tonofilament clumping, cytolysis, and /"blister"/ formation in suprabasal keratinocytes. It has been shown that the tonofilament aggregates in these areas are composed of /"keratin 1"/ (/"K1"/) and keratin 10 (K10), and several /"K1"/ and K10 point mutations have been i... | [
{
"begin_idx": "155",
"end_idx": "162",
"entity_id": "D001768",
"entity_type": "Disease",
"text_name": "blister"
},
{
"begin_idx": "38",
"end_idx": "66",
"entity_id": "D017488",
"entity_type": "Disease",
"text_name": "epidermolytic hyperkeratosis"
},
{
"begin_idx"... | {
"begin_idx": "284",
"end_idx": "293",
"entity_id": "3848",
"entity_type": "Gene",
"text_name": "keratin 1"
} | {
"begin_idx": "155",
"end_idx": "162",
"entity_id": "D001768",
"entity_type": "Disease",
"text_name": "blister"
} | No | false |
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