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 |
|---|---|---|---|---|---|---|---|---|
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": "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 |
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 |
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 |
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 |
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 | ||
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 | ||
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 |
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 |
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 |
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 |
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 | ||
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 | ||
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 |
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 |
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 |
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 |
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 |
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 |
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... | [
{
"begin_idx": "515",
"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": "721",
"end_idx": "811",
"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 |
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... | [
{
"begin_idx": "515",
"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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
End of preview. Expand in Data Studio
README.md exists but content is empty.
- Downloads last month
- 3