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LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
574 0-26 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome MESH:D049932
575 69-89 DiseaseOrPhenotypicFeature denotes primary microcephaly MESH:D008831
576 95-121 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome MESH:D049932
577 132-184 DiseaseOrPhenotypicFeature denotes autosomal recessive chromosomal instability disorder MESH:D043171
578 208-226 DiseaseOrPhenotypicFeature denotes growth retardation MESH:D006130
579 228-251 DiseaseOrPhenotypicFeature denotes congenital microcephaly MESH:D008831
580 253-269 DiseaseOrPhenotypicFeature denotes immunodeficiency MESH:D007153
581 325-353 DiseaseOrPhenotypicFeature denotes lymphoreticular malignancies MESH:D049932
582 360-386 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome MESH:D049932
583 387-395 OrganismTaxon denotes patients NCBITaxon:9606
584 476-497 SequenceVariant denotes 5 nucleotide deletion c|DEL||5
585 505-509 GeneOrGeneProduct denotes NBS1 NCBIGene:4683
586 516-528 DiseaseOrPhenotypicFeature denotes Microcephaly MESH:D008831
587 552-578 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome MESH:D049932
588 579-587 OrganismTaxon denotes patients NCBITaxon:9606
589 656-682 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome MESH:D049932
590 703-723 DiseaseOrPhenotypicFeature denotes primary microcephaly MESH:D008831
591 854-862 OrganismTaxon denotes patients NCBITaxon:9606
592 958-962 GeneOrGeneProduct denotes NBS1 NCBIGene:4683
593 979-1005 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome MESH:D049932
594 1101-1127 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome MESH:D049932
595 1128-1136 OrganismTaxon denotes patients NCBITaxon:9606
596 1353-1379 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome MESH:D049932
597 1394-1420 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome MESH:D049932
598 1575-1601 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome MESH:D049932
599 1748-1774 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome MESH:D049932
600 1775-1783 OrganismTaxon denotes patients NCBITaxon:9606
601 1925-1951 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome MESH:D049932
602 1952-1960 OrganismTaxon denotes patients NCBITaxon:9606

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-90 Sentence denotes Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly.
T2 91-354 Sentence denotes The Nijmegen breakage syndrome is a rare autosomal recessive chromosomal instability disorder characterized by early growth retardation, congenital microcephaly, immunodeficiency, borderline mental development, and a high tendency to lymphoreticular malignancies.
T3 355-515 Sentence denotes Most Nijmegen breakage syndrome patients are of Slavonic origin, and all of them known so far carry a founder homozygous 5 nucleotide deletion in the NBS1 gene.
T4 516-638 Sentence denotes Microcephaly was present in 100% of Nijmegen breakage syndrome patients in a recent large international cooperative study.
T5 639-738 Sentence denotes The frequency of Nijmegen breakage syndrome among children with primary microcephaly was not known.
T6 739-834 Sentence denotes Early correct diagnosis of the syndrome is crucial for appropriate preventive care and therapy.
T7 835-968 Sentence denotes We tested 67 Czech patients of different ages with simple microcephaly for the presence of the most common mutation in the NBS1 gene.
T8 969-1074 Sentence denotes Three new Nijmegen breakage syndrome cases were detected in this cohort, representing 4.5% of the cohort.
T9 1075-1190 Sentence denotes All these newly diagnosed Nijmegen breakage syndrome patients were younger than 10 months at the time of diagnosis.
T10 1191-1235 Sentence denotes They were all born within a 2.5-year period.
T11 1236-1380 Sentence denotes Twenty-three of the 67 children in the cohort were born within this 2.5-year period, representing a 13% incidence of Nijmegen breakage syndrome.
T12 1381-1476 Sentence denotes Frequency of Nijmegen breakage syndrome heterozygotes among infants in the Czech Republic is 1:
T13 1477-1638 Sentence denotes 130-158 and the birth rate is 90,000 per year, therefore in the time span of 2.5 years, three new Nijmegen breakage syndrome homozygotes are expected to be born.
T14 1639-1799 Sentence denotes Therefore we assume that by DNA testing of Czech primary microcephalic children it is possible to detect all Nijmegen breakage syndrome patients to be expected.
T15 1800-1916 Sentence denotes The age at correct diagnosis was lowered from 7.1 years at the time before DNA testing, to well under 1 year of age.
T16 1917-2075 Sentence denotes All new Nijmegen breakage syndrome patients could receive appropriate preventive care, which should significantly improve their life expectancy and prognosis.

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 0-26 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome 0009623
T2 77-89 DiseaseOrPhenotypicFeature denotes microcephaly 0001149
T3 95-121 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome 0009623
T4 127-131 DiseaseOrPhenotypicFeature denotes rare 0021136
T5 228-238 DiseaseOrPhenotypicFeature denotes congenital 0021140
T6 239-251 DiseaseOrPhenotypicFeature denotes microcephaly 0001149
T7 360-386 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome 0009623
T8 516-528 DiseaseOrPhenotypicFeature denotes Microcephaly 0001149
T9 552-578 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome 0009623
T10 656-682 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome 0009623
T11 711-723 DiseaseOrPhenotypicFeature denotes microcephaly 0001149
T12 893-905 DiseaseOrPhenotypicFeature denotes microcephaly 0001149
T13 979-1005 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome 0009623
T14 1101-1127 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome 0009623
T15 1353-1379 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome 0009623
T16 1394-1420 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome 0009623
T17 1575-1601 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome 0009623
T18 1748-1774 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome 0009623
T19 1925-1951 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome 0009623

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 18-26 GeneOrGeneProduct denotes syndrome
T2 113-121 GeneOrGeneProduct denotes syndrome
T3 127-131 GeneOrGeneProduct denotes rare
T4 202-207 GeneOrGeneProduct denotes early
T5 208-214 GeneOrGeneProduct denotes growth
T6 253-269 GeneOrGeneProduct denotes immunodeficiency
T7 308-312 GeneOrGeneProduct denotes high
T8 378-386 GeneOrGeneProduct denotes syndrome
T9 424-427 GeneOrGeneProduct denotes all
T10 431-435 GeneOrGeneProduct denotes them
T11 505-509 GeneOrGeneProduct denotes NBS1
T12 570-578 GeneOrGeneProduct denotes syndrome
T13 588-592 GeneOrGeneProduct denotes in a
T14 600-605 GeneOrGeneProduct denotes large
T15 643-652 GeneOrGeneProduct denotes frequency
T16 674-682 GeneOrGeneProduct denotes syndrome
T17 739-744 GeneOrGeneProduct denotes Early
T18 770-778 GeneOrGeneProduct denotes syndrome
T19 817-821 GeneOrGeneProduct denotes care
T20 838-844 GeneOrGeneProduct denotes tested
T21 886-892 GeneOrGeneProduct denotes simple
T22 942-950 GeneOrGeneProduct denotes mutation
T23 958-962 GeneOrGeneProduct denotes NBS1
T24 997-1005 GeneOrGeneProduct denotes syndrome
T25 1006-1011 GeneOrGeneProduct denotes cases
T26 1075-1078 GeneOrGeneProduct denotes All
T27 1119-1127 GeneOrGeneProduct denotes syndrome
T28 1172-1176 GeneOrGeneProduct denotes time
T29 1201-1204 GeneOrGeneProduct denotes all
T30 1219-1222 GeneOrGeneProduct denotes 2.5
T31 1223-1227 GeneOrGeneProduct denotes year
T32 1228-1234 GeneOrGeneProduct denotes period
T33 1304-1307 GeneOrGeneProduct denotes 2.5
T34 1308-1312 GeneOrGeneProduct denotes year
T35 1313-1319 GeneOrGeneProduct denotes period
T36 1371-1379 GeneOrGeneProduct denotes syndrome
T37 1381-1390 GeneOrGeneProduct denotes Frequency
T38 1412-1420 GeneOrGeneProduct denotes syndrome
T39 1514-1517 GeneOrGeneProduct denotes per
T40 1518-1522 GeneOrGeneProduct denotes year
T41 1541-1545 GeneOrGeneProduct denotes time
T42 1546-1550 GeneOrGeneProduct denotes span
T43 1554-1557 GeneOrGeneProduct denotes 2.5
T44 1558-1563 GeneOrGeneProduct denotes years
T45 1593-1601 GeneOrGeneProduct denotes syndrome
T46 1671-1678 GeneOrGeneProduct denotes testing
T47 1744-1747 GeneOrGeneProduct denotes all
T48 1766-1774 GeneOrGeneProduct denotes syndrome
T49 1850-1855 GeneOrGeneProduct denotes years
T50 1863-1867 GeneOrGeneProduct denotes time
T51 1879-1886 GeneOrGeneProduct denotes testing
T52 1904-1908 GeneOrGeneProduct denotes year
T53 1917-1920 GeneOrGeneProduct denotes All
T54 1943-1951 GeneOrGeneProduct denotes syndrome
T55 1998-2002 GeneOrGeneProduct denotes care

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 18-26 GeneOrGeneProduct denotes syndrome
T2 113-121 GeneOrGeneProduct denotes syndrome
T3 127-131 GeneOrGeneProduct denotes rare
T4 202-207 GeneOrGeneProduct denotes early
T5 208-214 GeneOrGeneProduct denotes growth
T6 253-269 GeneOrGeneProduct denotes immunodeficiency
T7 308-312 GeneOrGeneProduct denotes high
T8 378-386 GeneOrGeneProduct denotes syndrome
T9 505-509 GeneOrGeneProduct denotes NBS1
T10 570-578 GeneOrGeneProduct denotes syndrome
T11 600-605 GeneOrGeneProduct denotes large
T12 643-652 GeneOrGeneProduct denotes frequency
T13 674-682 GeneOrGeneProduct denotes syndrome
T14 739-744 GeneOrGeneProduct denotes Early
T15 770-778 GeneOrGeneProduct denotes syndrome
T16 958-962 GeneOrGeneProduct denotes NBS1
T17 997-1005 GeneOrGeneProduct denotes syndrome
T18 1119-1127 GeneOrGeneProduct denotes syndrome
T19 1228-1234 GeneOrGeneProduct denotes period
T20 1313-1319 GeneOrGeneProduct denotes period
T21 1371-1379 GeneOrGeneProduct denotes syndrome
T22 1381-1390 GeneOrGeneProduct denotes Frequency
T23 1412-1420 GeneOrGeneProduct denotes syndrome
T24 1546-1550 GeneOrGeneProduct denotes span
T25 1593-1601 GeneOrGeneProduct denotes syndrome
T26 1766-1774 GeneOrGeneProduct denotes syndrome
T27 1943-1951 GeneOrGeneProduct denotes syndrome

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 0-26 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T2 77-89 DiseaseOrPhenotypicFeature denotes microcephaly D008831
T3 95-121 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T4 152-175 DiseaseOrPhenotypicFeature denotes chromosomal instability D043171
T5 239-251 DiseaseOrPhenotypicFeature denotes microcephaly D008831
T6 341-353 DiseaseOrPhenotypicFeature denotes malignancies D009369
T7 360-386 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T8 516-528 DiseaseOrPhenotypicFeature denotes Microcephaly D008831
T9 552-578 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T10 656-682 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T11 711-723 DiseaseOrPhenotypicFeature denotes microcephaly D008831
T12 770-778 DiseaseOrPhenotypicFeature denotes syndrome D013577
T13 893-905 DiseaseOrPhenotypicFeature denotes microcephaly D008831
T14 979-1005 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T15 1101-1127 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T16 1353-1379 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T17 1394-1420 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T18 1575-1601 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T19 1748-1774 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T20 1925-1951 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 0-26 GeneOrGeneProduct denotes Nijmegen breakage syndrome
T2 95-121 GeneOrGeneProduct denotes Nijmegen breakage syndrome
T3 360-386 GeneOrGeneProduct denotes Nijmegen breakage syndrome
T4 505-509 GeneOrGeneProduct denotes NBS1
T5 552-578 GeneOrGeneProduct denotes Nijmegen breakage syndrome
T6 656-682 GeneOrGeneProduct denotes Nijmegen breakage syndrome
T7 958-962 GeneOrGeneProduct denotes NBS1
T8 979-1005 GeneOrGeneProduct denotes Nijmegen breakage syndrome
T9 1101-1127 GeneOrGeneProduct denotes Nijmegen breakage syndrome
T10 1228-1234 GeneOrGeneProduct denotes period
T11 1313-1319 GeneOrGeneProduct denotes period
T12 1353-1379 GeneOrGeneProduct denotes Nijmegen breakage syndrome
T13 1394-1420 GeneOrGeneProduct denotes Nijmegen breakage syndrome
T14 1546-1550 GeneOrGeneProduct denotes span
T15 1575-1601 GeneOrGeneProduct denotes Nijmegen breakage syndrome
T16 1748-1774 GeneOrGeneProduct denotes Nijmegen breakage syndrome
T17 1925-1951 GeneOrGeneProduct denotes Nijmegen breakage syndrome

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 0-26 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome 0009623
T2 69-89 DiseaseOrPhenotypicFeature denotes primary microcephaly 0016056
T3 95-121 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome 0009623
T4 239-251 DiseaseOrPhenotypicFeature denotes microcephaly 0001149
T5 253-269 DiseaseOrPhenotypicFeature denotes immunodeficiency 0021094
T6 360-386 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome 0009623
T7 516-528 DiseaseOrPhenotypicFeature denotes Microcephaly 0001149
T8 552-578 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome 0009623
T9 656-682 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome 0009623
T10 703-723 DiseaseOrPhenotypicFeature denotes primary microcephaly 0016056
T11 766-778 DiseaseOrPhenotypicFeature denotes the syndrome 0024541
T12 893-905 DiseaseOrPhenotypicFeature denotes microcephaly 0001149
T13 979-1005 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome 0009623
T14 1101-1127 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome 0009623
T15 1353-1379 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome 0009623
T16 1394-1420 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome 0009623
T17 1575-1601 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome 0009623
T18 1748-1774 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome 0009623
T19 1925-1951 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome 0009623

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 0-26 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T2 77-89 DiseaseOrPhenotypicFeature denotes microcephaly D008831
T3 95-121 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T4 152-175 DiseaseOrPhenotypicFeature denotes chromosomal instability D043171
T5 208-226 DiseaseOrPhenotypicFeature denotes growth retardation DISEASE
T6 239-251 DiseaseOrPhenotypicFeature denotes microcephaly D008831
T7 253-269 DiseaseOrPhenotypicFeature denotes immunodeficiency DISEASE
T8 341-353 DiseaseOrPhenotypicFeature denotes malignancies D009369
T9 360-386 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T10 516-528 DiseaseOrPhenotypicFeature denotes Microcephaly D008831
T11 552-578 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T12 656-682 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T13 711-723 DiseaseOrPhenotypicFeature denotes microcephaly D008831
T14 770-778 DiseaseOrPhenotypicFeature denotes syndrome D013577
T15 893-905 DiseaseOrPhenotypicFeature denotes microcephaly D008831
T16 979-1005 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T17 1101-1127 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T18 1353-1379 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T19 1394-1420 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T20 1575-1601 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T21 1748-1774 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T22 1925-1951 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 0-26 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T2 77-89 DiseaseOrPhenotypicFeature denotes microcephaly D008831
T3 95-121 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T4 152-175 DiseaseOrPhenotypicFeature denotes chromosomal instability D043171
T5 208-226 DiseaseOrPhenotypicFeature denotes growth retardation DISEASE
T6 239-251 DiseaseOrPhenotypicFeature denotes microcephaly D008831
T7 253-269 DiseaseOrPhenotypicFeature denotes immunodeficiency DISEASE
T8 341-353 DiseaseOrPhenotypicFeature denotes malignancies D009369
T9 360-386 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T10 516-528 DiseaseOrPhenotypicFeature denotes Microcephaly D008831
T11 552-578 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T12 656-682 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T13 711-723 DiseaseOrPhenotypicFeature denotes microcephaly D008831
T14 893-905 DiseaseOrPhenotypicFeature denotes microcephaly D008831
T15 979-1005 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T16 1101-1127 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T17 1353-1379 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T18 1394-1420 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T19 1575-1601 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T20 1748-1774 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T21 1925-1951 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 387-395 OrganismTaxon denotes patients
T2 579-587 OrganismTaxon denotes patients
T3 854-862 OrganismTaxon denotes patients
T4 1128-1136 OrganismTaxon denotes patients
T5 1775-1783 OrganismTaxon denotes patients
T6 1952-1960 OrganismTaxon denotes patients

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label
T17 1925-1951 GeneOrGeneProduct denotes Nijmegen breakage syndrome
T16 1748-1774 GeneOrGeneProduct denotes Nijmegen breakage syndrome
T15 1575-1601 GeneOrGeneProduct denotes Nijmegen breakage syndrome
T14 1546-1550 GeneOrGeneProduct denotes span
T13 1394-1420 GeneOrGeneProduct denotes Nijmegen breakage syndrome
T12 1353-1379 GeneOrGeneProduct denotes Nijmegen breakage syndrome
T11 1313-1319 GeneOrGeneProduct denotes period
T10 1228-1234 GeneOrGeneProduct denotes period
T9 1101-1127 GeneOrGeneProduct denotes Nijmegen breakage syndrome
T8 979-1005 GeneOrGeneProduct denotes Nijmegen breakage syndrome
T7 958-962 GeneOrGeneProduct denotes NBS1
T6 656-682 GeneOrGeneProduct denotes Nijmegen breakage syndrome
T5 552-578 GeneOrGeneProduct denotes Nijmegen breakage syndrome
T4 505-509 GeneOrGeneProduct denotes NBS1
T3 360-386 GeneOrGeneProduct denotes Nijmegen breakage syndrome
T2 95-121 GeneOrGeneProduct denotes Nijmegen breakage syndrome
T1 0-26 GeneOrGeneProduct denotes Nijmegen breakage syndrome
T21 1925-1951 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T20 1748-1774 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T19 1575-1601 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T18 1394-1420 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T42303 1353-1379 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T16289 1101-1127 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T24341 979-1005 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T16923 893-905 DiseaseOrPhenotypicFeature denotes microcephaly D008831
T82266 711-723 DiseaseOrPhenotypicFeature denotes microcephaly D008831
T24765 656-682 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T21284 552-578 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T35300 516-528 DiseaseOrPhenotypicFeature denotes Microcephaly D008831
T66189 360-386 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T13360 341-353 DiseaseOrPhenotypicFeature denotes malignancies D009369
T23922 253-269 DiseaseOrPhenotypicFeature denotes immunodeficiency DISEASE
T84434 239-251 DiseaseOrPhenotypicFeature denotes microcephaly D008831
T925 208-226 DiseaseOrPhenotypicFeature denotes growth retardation DISEASE
T2738 152-175 DiseaseOrPhenotypicFeature denotes chromosomal instability D043171
T83827 95-121 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T90390 77-89 DiseaseOrPhenotypicFeature denotes microcephaly D008831
T57375 0-26 DiseaseOrPhenotypicFeature denotes Nijmegen breakage syndrome D049932
T73690 1952-1960 OrganismTaxon denotes patients
T51703 1775-1783 OrganismTaxon denotes patients
T63431 1128-1136 OrganismTaxon denotes patients
T18419 854-862 OrganismTaxon denotes patients
T44018 579-587 OrganismTaxon denotes patients
T96819 387-395 OrganismTaxon denotes patients

DisGeNET

Id Subject Object Predicate Lexical cue
T0 958-962 gene:4683 denotes NBS1
T1 893-905 disease:C0025958 denotes microcephaly
T2 958-962 gene:55655 denotes NBS1
T3 893-905 disease:C0025958 denotes microcephaly
R1 T0 T1 associated_with NBS1,microcephaly
R2 T2 T3 associated_with NBS1,microcephaly