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PubMed:10664520 JSONTXT

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PubmedHPO

Id Subject Object Predicate Lexical cue
T1 99-118 HP_0100568 denotes endocrine neoplasia
T2 109-118 HP_0002664 denotes neoplasia
T3 218-224 HP_0002664 denotes tumors
T4 443-448 HP_0002858 denotes menin
T5 1756-1762 HP_0002664 denotes tumors

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10664520-0#0#4#gene4221 402-406 gene4221 denotes MEN1
10664520-0#53#88#diseaseC0025267 998-1744 diseaseC0025267 denotes milies and in five sporadic cases. We identified 17 different heterozygous mutations in 60% of analyzed cases. Twelve of these mutations are novel. Two mutations each occurred twice in unrelated families but no evidence of genotype-phenotype correlation can be established for these families. The extension of genetic diagnosis to asymptomatic family members allowed the identification of 10 MEN1 mutant gene carriers, one newly described and nine previously detected by linkage analysis with DNA markers from the 11q13 region. Our findings add new information to the diversity of mutations occurring in the MEN1 gene and confirm that the mutational screening of MEN 1 is a useful approach to detect individuals at higher risk of developing MEN 1
0#4#gene422153#88#diseaseC0025267 10664520-0#0#4#gene4221 10664520-0#53#88#diseaseC0025267 associated_with MEN1,"milies and in five sporadic cases. We identified 17 different heterozygous mutations in 60% of analyzed cases. Twelve of these mutations are novel. Two mutations each occurred twice in unrelated families but no evidence of genotype-phenotype correlation can be established for these families. The extension of genetic diagnosis to asymptomatic family members allowed the identification of 10 MEN1 mutant gene carriers, one newly described and nine previously detected by linkage analysis with DNA markers from the 11q13 region. Our findings add new information to the diversity of mutations occurring in the MEN1 gene and confirm that the mutational screening of MEN 1 is a useful approach to detect individuals at higher risk of developing MEN 1"

DisGeNET

Id Subject Object Predicate Lexical cue
T0 0-4 gene:4221 denotes MEN1
T1 53-88 disease:C0025267 denotes multiple endocrine neoplasia type 1
R1 T0 T1 associated_with MEN1,multiple endocrine neoplasia type 1