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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-118 Sentence denotes First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes.
TextSentencer_T2 119-271 Sentence denotes Biallelic mutations in the base excision repair gene Mut Y homologue (MUTYH) are responsible for variable recessively inherited phenotypes of polyposis.
TextSentencer_T3 272-532 Sentence denotes Beside MUTYH, the proteins 8-oxo-guanine DNA glycosylase (OGG1) and MTH1 (or NUDT1) are also involved in the repair of 7,8-dihydro-8-oxoguanine (8-oxo-G), previous studies, however, only found missense mutations of unclear pathogenicity in either MTH1 or OGG1.
TextSentencer_T4 533-960 Sentence denotes To investigate the role of a defective 8-oxo-G repair we performed a germline mutation screening in the genes OGG1, MTH1 and MUTYH, in 81 patients with a clinical phenotype ranging from attenuated or atypical adenomatous polyposis coli including hyperplastic polyps to hereditary non-polyposis colorectal cancer (HNPCC) type X syndrome without mono- or biallelic mutations in either APC, MUTYH or the DNA mismatch repair genes.
TextSentencer_T5 961-1346 Sentence denotes We describe here the first pathogenic germline mutation in OGG1, a splice site mutation affecting exon 1, which was inherited from the father, in combination with a maternal MUTYH missense mutation p.Ile223Val in a female patient with advanced synchronous colon cancer and adenomas at the age of 36 years pointing towards digenic inheritance for colorectal cancer (CRC) predisposition.
TextSentencer_T6 1347-1480 Sentence denotes Monoallelic missense mutations in MTH1 (3x), OGG1 (2x), or MUTYH (3x) were identified in 10 patients (12%), three of them were novel.
TextSentencer_T7 1481-1603 Sentence denotes Our findings indicate that mutations in other genes of the 8-oxo-G repair beside MUTYH are involved in CRC predisposition.
TextSentencer_T8 1604-1746 Sentence denotes Oligogenic inheritance affecting genes of a certain repair pathway might therefore be the missing link between monogenic and polygenic traits.
T1 0-118 Sentence denotes First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes.
T2 119-271 Sentence denotes Biallelic mutations in the base excision repair gene Mut Y homologue (MUTYH) are responsible for variable recessively inherited phenotypes of polyposis.
T3 272-532 Sentence denotes Beside MUTYH, the proteins 8-oxo-guanine DNA glycosylase (OGG1) and MTH1 (or NUDT1) are also involved in the repair of 7,8-dihydro-8-oxoguanine (8-oxo-G), previous studies, however, only found missense mutations of unclear pathogenicity in either MTH1 or OGG1.
T4 533-960 Sentence denotes To investigate the role of a defective 8-oxo-G repair we performed a germline mutation screening in the genes OGG1, MTH1 and MUTYH, in 81 patients with a clinical phenotype ranging from attenuated or atypical adenomatous polyposis coli including hyperplastic polyps to hereditary non-polyposis colorectal cancer (HNPCC) type X syndrome without mono- or biallelic mutations in either APC, MUTYH or the DNA mismatch repair genes.
T5 961-1346 Sentence denotes We describe here the first pathogenic germline mutation in OGG1, a splice site mutation affecting exon 1, which was inherited from the father, in combination with a maternal MUTYH missense mutation p.Ile223Val in a female patient with advanced synchronous colon cancer and adenomas at the age of 36 years pointing towards digenic inheritance for colorectal cancer (CRC) predisposition.
T6 1347-1480 Sentence denotes Monoallelic missense mutations in MTH1 (3x), OGG1 (2x), or MUTYH (3x) were identified in 10 patients (12%), three of them were novel.
T7 1481-1603 Sentence denotes Our findings indicate that mutations in other genes of the 8-oxo-G repair beside MUTYH are involved in CRC predisposition.
T8 1604-1746 Sentence denotes Oligogenic inheritance affecting genes of a certain repair pathway might therefore be the missing link between monogenic and polygenic traits.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1020-1024 gene:4968 denotes OGG1
T1 1234-1242 disease:C0001430 denotes adenomas
T2 1020-1024 gene:4968 denotes OGG1
T3 1307-1324 disease:C0009402 denotes colorectal cancer
T4 1020-1024 gene:4968 denotes OGG1
T5 1307-1324 disease:C1527249 denotes colorectal cancer
T6 1020-1024 gene:4968 denotes OGG1
T7 1326-1329 disease:C0009402 denotes CRC
T8 1020-1024 gene:4968 denotes OGG1
T9 1326-1329 disease:C1527249 denotes CRC
R1 T0 T1 associated_with OGG1,adenomas
R2 T2 T3 associated_with OGG1,colorectal cancer
R3 T4 T5 associated_with OGG1,colorectal cancer
R4 T6 T7 associated_with OGG1,CRC
R5 T8 T9 associated_with OGG1,CRC

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 817-837 HP_0200063 denotes polyposis colorectal
T2 838-844 HP_0002664 denotes cancer
T3 1217-1229 HP_0003003 denotes colon cancer
T4 1217-1229 HP_0100273 denotes colon cancer
T5 1223-1229 HP_0002664 denotes cancer
T6 1283-1302 HP_0010984 denotes digenic inheritance
T7 1318-1324 HP_0002664 denotes cancer
T8 1604-1626 HP_0010983 denotes Oligogenic inheritance
T9 1729-1745 HP_0010982 denotes polygenic traits

Allie

Id Subject Object Predicate Lexical cue
SS1_21195604_1_0 172-187 expanded denotes Mut Y homologue
SS2_21195604_1_0 189-194 abbr denotes MUTYH
SS1_21195604_2_0 391-415 expanded denotes 7,8-dihydro-8-oxoguanine
SS2_21195604_2_0 417-424 abbr denotes 8-oxo-G
SS1_21195604_3_0 802-844 expanded denotes hereditary non-polyposis colorectal cancer
SS2_21195604_3_0 846-851 abbr denotes HNPCC
SS1_21195604_4_0 1307-1324 expanded denotes colorectal cancer
SS2_21195604_4_0 1326-1329 abbr denotes CRC
AE1_21195604_1_0 SS1_21195604_1_0 SS2_21195604_1_0 abbreviatedTo Mut Y homologue,MUTYH
AE1_21195604_2_0 SS1_21195604_2_0 SS2_21195604_2_0 abbreviatedTo "7,8-dihydro-8-oxoguanine",8-oxo-G
AE1_21195604_3_0 SS1_21195604_3_0 SS2_21195604_3_0 abbreviatedTo hereditary non-polyposis colorectal cancer,HNPCC
AE1_21195604_4_0 SS1_21195604_4_0 SS2_21195604_4_0 abbreviatedTo colorectal cancer,CRC

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
21195604-3#110#114#gene4968 643-647 gene4968 denotes OGG1
21195604-3#116#120#gene4521 649-653 gene4521 denotes MTH1
21195604-3#383#386#gene324 916-919 gene324 denotes APC
21195604-3#209#235#diseaseC0032580 742-768 diseaseC0032580 denotes adenomatous polyposis coli
21195604-3#246#265#diseaseC0333983 779-798 diseaseC0333983 denotes hyperplastic polyps
21195604-3#209#235#diseaseC0032580 742-768 diseaseC0032580 denotes adenomatous polyposis coli
21195604-3#246#265#diseaseC0333983 779-798 diseaseC0333983 denotes hyperplastic polyps
21195604-4#59#63#gene4968 1020-1024 gene4968 denotes OGG1
21195604-4#256#268#diseaseC0007102 1217-1229 diseaseC0007102 denotes colon cancer
21195604-4#256#268#diseaseC0699790 1217-1229 diseaseC0699790 denotes colon cancer
21195604-4#346#363#diseaseC0009402 1307-1324 diseaseC0009402 denotes colorectal cancer
21195604-4#346#363#diseaseC1527249 1307-1324 diseaseC1527249 denotes colorectal cancer
21195604-4#365#368#diseaseC0009402 1326-1329 diseaseC0009402 denotes CRC
21195604-4#365#368#diseaseC1527249 1326-1329 diseaseC1527249 denotes CRC
21195604-4#273#281#diseaseC0001430 1234-1242 diseaseC0001430 denotes adenomas
110#114#gene4968209#235#diseaseC0032580 21195604-3#110#114#gene4968 21195604-3#209#235#diseaseC0032580 associated_with OGG1,adenomatous polyposis coli
110#114#gene4968246#265#diseaseC0333983 21195604-3#110#114#gene4968 21195604-3#246#265#diseaseC0333983 associated_with OGG1,hyperplastic polyps
110#114#gene4968209#235#diseaseC0032580 21195604-3#110#114#gene4968 21195604-3#209#235#diseaseC0032580 associated_with OGG1,adenomatous polyposis coli
110#114#gene4968246#265#diseaseC0333983 21195604-3#110#114#gene4968 21195604-3#246#265#diseaseC0333983 associated_with OGG1,hyperplastic polyps
116#120#gene4521209#235#diseaseC0032580 21195604-3#116#120#gene4521 21195604-3#209#235#diseaseC0032580 associated_with MTH1,adenomatous polyposis coli
116#120#gene4521246#265#diseaseC0333983 21195604-3#116#120#gene4521 21195604-3#246#265#diseaseC0333983 associated_with MTH1,hyperplastic polyps
116#120#gene4521209#235#diseaseC0032580 21195604-3#116#120#gene4521 21195604-3#209#235#diseaseC0032580 associated_with MTH1,adenomatous polyposis coli
116#120#gene4521246#265#diseaseC0333983 21195604-3#116#120#gene4521 21195604-3#246#265#diseaseC0333983 associated_with MTH1,hyperplastic polyps
383#386#gene324209#235#diseaseC0032580 21195604-3#383#386#gene324 21195604-3#209#235#diseaseC0032580 associated_with APC,adenomatous polyposis coli
383#386#gene324246#265#diseaseC0333983 21195604-3#383#386#gene324 21195604-3#246#265#diseaseC0333983 associated_with APC,hyperplastic polyps
383#386#gene324209#235#diseaseC0032580 21195604-3#383#386#gene324 21195604-3#209#235#diseaseC0032580 associated_with APC,adenomatous polyposis coli
383#386#gene324246#265#diseaseC0333983 21195604-3#383#386#gene324 21195604-3#246#265#diseaseC0333983 associated_with APC,hyperplastic polyps
59#63#gene4968256#268#diseaseC0007102 21195604-4#59#63#gene4968 21195604-4#256#268#diseaseC0007102 associated_with OGG1,colon cancer
59#63#gene4968256#268#diseaseC0699790 21195604-4#59#63#gene4968 21195604-4#256#268#diseaseC0699790 associated_with OGG1,colon cancer
59#63#gene4968346#363#diseaseC0009402 21195604-4#59#63#gene4968 21195604-4#346#363#diseaseC0009402 associated_with OGG1,colorectal cancer
59#63#gene4968346#363#diseaseC1527249 21195604-4#59#63#gene4968 21195604-4#346#363#diseaseC1527249 associated_with OGG1,colorectal cancer
59#63#gene4968365#368#diseaseC0009402 21195604-4#59#63#gene4968 21195604-4#365#368#diseaseC0009402 associated_with OGG1,CRC
59#63#gene4968365#368#diseaseC1527249 21195604-4#59#63#gene4968 21195604-4#365#368#diseaseC1527249 associated_with OGG1,CRC
59#63#gene4968273#281#diseaseC0001430 21195604-4#59#63#gene4968 21195604-4#273#281#diseaseC0001430 associated_with OGG1,adenomas

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T1649 1020-1024 gene:4968 denotes OGG1
T1650 1217-1229 disease:C0007102 denotes colon cancer
T1651 1307-1324 disease:C0009402 denotes colorectal cancer
T1652 1326-1329 disease:C0009402 denotes CRC
R1 T1649 T1650 associated_with OGG1,colon cancer
R2 T1649 T1650 associated_with OGG1,colon cancer
R3 T1649 T1651 associated_with OGG1,colorectal cancer
R4 T1649 T1651 associated_with OGG1,colorectal cancer
R5 T1649 T1652 associated_with OGG1,CRC
R6 T1649 T1652 associated_with OGG1,CRC

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1217-1222 http://purl.obolibrary.org/obo/UBERON_0001155 denotes colon

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1217-1222 http://purl.obolibrary.org/obo/UBERON_0001155 denotes colon