> top > docs > PubMed:14627671 > annotations

PubMed:14627671 JSONTXT

Annnotations TAB JSON ListView MergeView

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-115 Sentence denotes Analysis of the Birt-Hogg-Dubé (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer.
TextSentencer_T2 116-244 Sentence denotes Germline mutations in the BHD gene cause the dominantly inherited cancer susceptibility disorder, Birt-Hogg-Dubé (BHD) syndrome.
TextSentencer_T3 245-371 Sentence denotes Individuals with BHD are reported to have an increased risk of renal cell carcinoma (RCC) and of colorectal polyps and cancer.
TextSentencer_T4 372-652 Sentence denotes The BHD gene maps to 17p11.2, and to investigate whether somatic inactivation of the BHD gene region is implicated in the pathogenesis of sporadic RCC and colorectal cancer (CRC), we performed mutation analysis in 30 RCC primary tumours and cell lines, and 35 CRCs and cell lines.
TextSentencer_T5 653-960 Sentence denotes A somatic missense mutation (Ala444Ser) with loss of the wild type allele (consistent with a two hit mechanism of tumorigenesis) was detected in a primary clear cell RCC, and a further missense mutation (Ala238Val) was identified in a clear cell RCC cell line for which matched normal DNA was not available.
TextSentencer_T6 961-1150 Sentence denotes A somatic missense substitution (Arg392Gly) was identified in a primary CRC, and the same change was detected in three RCCs (all oncocytomas) for which matched normal DNA was not available.
TextSentencer_T7 1151-1310 Sentence denotes A germline Arg320Gln missense variant detected in a primary CRC was not detected in 40 control individuals or in a further 159 familial and sporadic CRC cases.
TextSentencer_T8 1311-1474 Sentence denotes However, AA homozygotes for an intronic single nucleotide polymorphism (c.1517+6 G-->A) were under-represented in familial cases compared with controls (p = 0.03).
TextSentencer_T9 1475-1596 Sentence denotes For some tumour suppressor genes, epigenetic silencing is a more common mechanism of inactivation than somatic mutations.
TextSentencer_T10 1597-1771 Sentence denotes However, we did not detect evidence of epigenetic silencing of BHD in 19 CRC and RCC cell lines, and BHD promoter region hypermethylation was not detected in 20 primary RCCs.
TextSentencer_T11 1772-1862 Sentence denotes These findings suggest that BHD inactivation occurs in a subset of clear cell RCC and CRC.
T1 0-115 Sentence denotes Analysis of the Birt-Hogg-Dubé (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer.
T2 116-244 Sentence denotes Germline mutations in the BHD gene cause the dominantly inherited cancer susceptibility disorder, Birt-Hogg-Dubé (BHD) syndrome.
T3 245-371 Sentence denotes Individuals with BHD are reported to have an increased risk of renal cell carcinoma (RCC) and of colorectal polyps and cancer.
T4 372-652 Sentence denotes The BHD gene maps to 17p11.2, and to investigate whether somatic inactivation of the BHD gene region is implicated in the pathogenesis of sporadic RCC and colorectal cancer (CRC), we performed mutation analysis in 30 RCC primary tumours and cell lines, and 35 CRCs and cell lines.
T5 653-960 Sentence denotes A somatic missense mutation (Ala444Ser) with loss of the wild type allele (consistent with a two hit mechanism of tumorigenesis) was detected in a primary clear cell RCC, and a further missense mutation (Ala238Val) was identified in a clear cell RCC cell line for which matched normal DNA was not available.
T6 961-1150 Sentence denotes A somatic missense substitution (Arg392Gly) was identified in a primary CRC, and the same change was detected in three RCCs (all oncocytomas) for which matched normal DNA was not available.
T7 1151-1310 Sentence denotes A germline Arg320Gln missense variant detected in a primary CRC was not detected in 40 control individuals or in a further 159 familial and sporadic CRC cases.
T8 1311-1474 Sentence denotes However, AA homozygotes for an intronic single nucleotide polymorphism (c.1517+6 G-->A) were under-represented in familial cases compared with controls (p = 0.03).
T9 1475-1596 Sentence denotes For some tumour suppressor genes, epigenetic silencing is a more common mechanism of inactivation than somatic mutations.
T10 1597-1771 Sentence denotes However, we did not detect evidence of epigenetic silencing of BHD in 19 CRC and RCC cell lines, and BHD promoter region hypermethylation was not detected in 20 primary RCCs.
T11 1772-1862 Sentence denotes These findings suggest that BHD inactivation occurs in a subset of clear cell RCC and CRC.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 182-188 HP_0002664 denotes cancer
T2 308-328 HP_0005584 denotes renal cell carcinoma
T3 342-359 HP_0200063 denotes colorectal polyps
T4 364-370 HP_0002664 denotes cancer
T5 538-544 HP_0002664 denotes cancer
T6 601-608 HP_0002664 denotes tumours
T7 1484-1490 HP_0002664 denotes tumour
T8 1578-1595 HP_0001428 denotes somatic mutations

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
14627671-5#33#42#geners760470520 994-1003 geners760470520 denotes Arg392Gly
14627671-5#72#75#diseaseC0009402 1033-1036 diseaseC0009402 denotes CRC
14627671-5#72#75#diseaseC1527249 1033-1036 diseaseC1527249 denotes CRC
14627671-5#119#122#diseaseC0007134 1080-1083 diseaseC0007134 denotes RCC
14627671-5#129#140#diseaseC0949541 1090-1101 diseaseC0949541 denotes oncocytomas
33#42#geners76047052072#75#diseaseC0009402 14627671-5#33#42#geners760470520 14627671-5#72#75#diseaseC0009402 associated_with Arg392Gly,CRC
33#42#geners76047052072#75#diseaseC1527249 14627671-5#33#42#geners760470520 14627671-5#72#75#diseaseC1527249 associated_with Arg392Gly,CRC
33#42#geners760470520119#122#diseaseC0007134 14627671-5#33#42#geners760470520 14627671-5#119#122#diseaseC0007134 associated_with Arg392Gly,RCC
33#42#geners760470520129#140#diseaseC0949541 14627671-5#33#42#geners760470520 14627671-5#129#140#diseaseC0949541 associated_with Arg392Gly,oncocytomas

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
14627671-0#37#54#gene7248 37-54 gene7248 denotes tumour suppressor
14627671-0#37#54#gene7248 37-54 gene7248 denotes tumour suppressor
14627671-0#32#35#diseaseC0346010 32-35 diseaseC0346010 denotes BHD
14627671-0#32#35#diseaseC1840572 32-35 diseaseC1840572 denotes BHD
14627671-0#97#114#diseaseC0009402 97-114 diseaseC0009402 denotes colorectal cancer
14627671-0#97#114#diseaseC1527249 97-114 diseaseC1527249 denotes colorectal cancer
14627671-0#72#92#diseaseC0007134 72-92 diseaseC0007134 denotes renal cell carcinoma
14627671-1#26#29#gene50947 142-145 gene50947 denotes BHD
14627671-1#114#117#diseaseC0346010 230-233 diseaseC0346010 denotes BHD
14627671-1#114#117#diseaseC1840572 230-233 diseaseC1840572 denotes BHD
14627671-3#4#7#gene50947 376-379 gene50947 denotes BHD
14627671-3#85#88#gene50947 457-460 gene50947 denotes BHD
14627671-3#155#172#diseaseC0009402 527-544 diseaseC0009402 denotes colorectal cancer
14627671-3#155#172#diseaseC1527249 527-544 diseaseC1527249 denotes colorectal cancer
14627671-3#174#177#diseaseC0009402 546-549 diseaseC0009402 denotes CRC
14627671-3#174#177#diseaseC1527249 546-549 diseaseC1527249 denotes CRC
14627671-3#260#263#diseaseC0009402 632-635 diseaseC0009402 denotes CRC
14627671-3#260#263#diseaseC1527249 632-635 diseaseC1527249 denotes CRC
14627671-3#155#172#diseaseC0009402 527-544 diseaseC0009402 denotes colorectal cancer
14627671-3#155#172#diseaseC1527249 527-544 diseaseC1527249 denotes colorectal cancer
14627671-3#174#177#diseaseC0009402 546-549 diseaseC0009402 denotes CRC
14627671-3#174#177#diseaseC1527249 546-549 diseaseC1527249 denotes CRC
14627671-3#260#263#diseaseC0009402 632-635 diseaseC0009402 denotes CRC
14627671-3#260#263#diseaseC1527249 632-635 diseaseC1527249 denotes CRC
14627671-9#101#104#gene50947 1698-1701 gene50947 denotes BHD
14627671-9#81#84#diseaseC0007134 1678-1681 diseaseC0007134 denotes RCC
14627671-9#169#172#diseaseC0007134 1766-1769 diseaseC0007134 denotes RCC
37#54#gene724832#35#diseaseC0346010 14627671-0#37#54#gene7248 14627671-0#32#35#diseaseC0346010 associated_with tumour suppressor,BHD
37#54#gene724832#35#diseaseC1840572 14627671-0#37#54#gene7248 14627671-0#32#35#diseaseC1840572 associated_with tumour suppressor,BHD
37#54#gene724897#114#diseaseC0009402 14627671-0#37#54#gene7248 14627671-0#97#114#diseaseC0009402 associated_with tumour suppressor,colorectal cancer
37#54#gene724897#114#diseaseC1527249 14627671-0#37#54#gene7248 14627671-0#97#114#diseaseC1527249 associated_with tumour suppressor,colorectal cancer
37#54#gene724872#92#diseaseC0007134 14627671-0#37#54#gene7248 14627671-0#72#92#diseaseC0007134 associated_with tumour suppressor,renal cell carcinoma
37#54#gene724832#35#diseaseC0346010 14627671-0#37#54#gene7248 14627671-0#32#35#diseaseC0346010 associated_with tumour suppressor,BHD
37#54#gene724832#35#diseaseC1840572 14627671-0#37#54#gene7248 14627671-0#32#35#diseaseC1840572 associated_with tumour suppressor,BHD
37#54#gene724897#114#diseaseC0009402 14627671-0#37#54#gene7248 14627671-0#97#114#diseaseC0009402 associated_with tumour suppressor,colorectal cancer
37#54#gene724897#114#diseaseC1527249 14627671-0#37#54#gene7248 14627671-0#97#114#diseaseC1527249 associated_with tumour suppressor,colorectal cancer
37#54#gene724872#92#diseaseC0007134 14627671-0#37#54#gene7248 14627671-0#72#92#diseaseC0007134 associated_with tumour suppressor,renal cell carcinoma
26#29#gene50947114#117#diseaseC0346010 14627671-1#26#29#gene50947 14627671-1#114#117#diseaseC0346010 associated_with BHD,BHD
26#29#gene50947114#117#diseaseC1840572 14627671-1#26#29#gene50947 14627671-1#114#117#diseaseC1840572 associated_with BHD,BHD
4#7#gene50947155#172#diseaseC0009402 14627671-3#4#7#gene50947 14627671-3#155#172#diseaseC0009402 associated_with BHD,colorectal cancer
4#7#gene50947155#172#diseaseC1527249 14627671-3#4#7#gene50947 14627671-3#155#172#diseaseC1527249 associated_with BHD,colorectal cancer
4#7#gene50947174#177#diseaseC0009402 14627671-3#4#7#gene50947 14627671-3#174#177#diseaseC0009402 associated_with BHD,CRC
4#7#gene50947174#177#diseaseC1527249 14627671-3#4#7#gene50947 14627671-3#174#177#diseaseC1527249 associated_with BHD,CRC
4#7#gene50947260#263#diseaseC0009402 14627671-3#4#7#gene50947 14627671-3#260#263#diseaseC0009402 associated_with BHD,CRC
4#7#gene50947260#263#diseaseC1527249 14627671-3#4#7#gene50947 14627671-3#260#263#diseaseC1527249 associated_with BHD,CRC
4#7#gene50947155#172#diseaseC0009402 14627671-3#4#7#gene50947 14627671-3#155#172#diseaseC0009402 associated_with BHD,colorectal cancer
4#7#gene50947155#172#diseaseC1527249 14627671-3#4#7#gene50947 14627671-3#155#172#diseaseC1527249 associated_with BHD,colorectal cancer
4#7#gene50947174#177#diseaseC0009402 14627671-3#4#7#gene50947 14627671-3#174#177#diseaseC0009402 associated_with BHD,CRC
4#7#gene50947174#177#diseaseC1527249 14627671-3#4#7#gene50947 14627671-3#174#177#diseaseC1527249 associated_with BHD,CRC
4#7#gene50947260#263#diseaseC0009402 14627671-3#4#7#gene50947 14627671-3#260#263#diseaseC0009402 associated_with BHD,CRC
4#7#gene50947260#263#diseaseC1527249 14627671-3#4#7#gene50947 14627671-3#260#263#diseaseC1527249 associated_with BHD,CRC
85#88#gene50947155#172#diseaseC0009402 14627671-3#85#88#gene50947 14627671-3#155#172#diseaseC0009402 associated_with BHD,colorectal cancer
85#88#gene50947155#172#diseaseC1527249 14627671-3#85#88#gene50947 14627671-3#155#172#diseaseC1527249 associated_with BHD,colorectal cancer
85#88#gene50947174#177#diseaseC0009402 14627671-3#85#88#gene50947 14627671-3#174#177#diseaseC0009402 associated_with BHD,CRC
85#88#gene50947174#177#diseaseC1527249 14627671-3#85#88#gene50947 14627671-3#174#177#diseaseC1527249 associated_with BHD,CRC
85#88#gene50947260#263#diseaseC0009402 14627671-3#85#88#gene50947 14627671-3#260#263#diseaseC0009402 associated_with BHD,CRC
85#88#gene50947260#263#diseaseC1527249 14627671-3#85#88#gene50947 14627671-3#260#263#diseaseC1527249 associated_with BHD,CRC
85#88#gene50947155#172#diseaseC0009402 14627671-3#85#88#gene50947 14627671-3#155#172#diseaseC0009402 associated_with BHD,colorectal cancer
85#88#gene50947155#172#diseaseC1527249 14627671-3#85#88#gene50947 14627671-3#155#172#diseaseC1527249 associated_with BHD,colorectal cancer
85#88#gene50947174#177#diseaseC0009402 14627671-3#85#88#gene50947 14627671-3#174#177#diseaseC0009402 associated_with BHD,CRC
85#88#gene50947174#177#diseaseC1527249 14627671-3#85#88#gene50947 14627671-3#174#177#diseaseC1527249 associated_with BHD,CRC
85#88#gene50947260#263#diseaseC0009402 14627671-3#85#88#gene50947 14627671-3#260#263#diseaseC0009402 associated_with BHD,CRC
85#88#gene50947260#263#diseaseC1527249 14627671-3#85#88#gene50947 14627671-3#260#263#diseaseC1527249 associated_with BHD,CRC
101#104#gene5094781#84#diseaseC0007134 14627671-9#101#104#gene50947 14627671-9#81#84#diseaseC0007134 associated_with BHD,RCC
101#104#gene50947169#172#diseaseC0007134 14627671-9#101#104#gene50947 14627671-9#169#172#diseaseC0007134 associated_with BHD,RCC

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T687 37-54 gene:7248 denotes tumour suppressor
T688 32-35 disease:C0346010 denotes BHD
T689 97-114 disease:C0009402 denotes colorectal cancer
T690 142-145 gene:50947 denotes BHD
T691 230-233 disease:C0346010 denotes BHD
T692 376-379 gene:50947 denotes BHD
T693 527-544 disease:C0009402 denotes colorectal cancer
T694 546-549 disease:C0009402 denotes CRC
T695 632-635 disease:C0009402 denotes CRC
T696 457-460 gene:50947 denotes BHD
R1 T687 T688 associated_with tumour suppressor,BHD
R2 T687 T688 associated_with tumour suppressor,BHD
R3 T687 T689 associated_with tumour suppressor,colorectal cancer
R4 T687 T689 associated_with tumour suppressor,colorectal cancer
R5 T690 T691 associated_with BHD,BHD
R6 T690 T691 associated_with BHD,BHD
R7 T692 T693 associated_with BHD,colorectal cancer
R8 T692 T693 associated_with BHD,colorectal cancer
R9 T692 T694 associated_with BHD,CRC
R10 T692 T694 associated_with BHD,CRC
R11 T692 T695 associated_with BHD,CRC
R12 T692 T695 associated_with BHD,CRC
R13 T696 T693 associated_with BHD,colorectal cancer
R14 T696 T693 associated_with BHD,colorectal cancer
R15 T696 T694 associated_with BHD,CRC
R16 T696 T694 associated_with BHD,CRC
R17 T696 T695 associated_with BHD,CRC
R18 T696 T695 associated_with BHD,CRC

DisGeNET

Id Subject Object Predicate Lexical cue
T0 37-54 gene:7248 denotes tumour suppressor
T1 97-114 disease:C1527249 denotes colorectal cancer
T2 37-54 gene:7248 denotes tumour suppressor
T3 97-114 disease:C0009402 denotes colorectal cancer
T4 142-145 gene:201163 denotes BHD
T5 182-188 disease:C1306459 denotes cancer
T6 142-145 gene:201163 denotes BHD
T7 182-188 disease:C0006826 denotes cancer
T8 142-145 gene:50947 denotes BHD
T9 182-188 disease:C1306459 denotes cancer
T10 142-145 gene:50947 denotes BHD
T11 182-188 disease:C0006826 denotes cancer
T12 457-460 gene:50947 denotes BHD
T13 519-522 disease:C0007134 denotes RCC
T14 376-379 gene:50947 denotes BHD
T15 527-544 disease:C1527249 denotes colorectal cancer
T16 376-379 gene:201163 denotes BHD
T17 527-544 disease:C0009402 denotes colorectal cancer
T18 376-379 gene:201163 denotes BHD
T19 527-544 disease:C1527249 denotes colorectal cancer
T20 376-379 gene:50947 denotes BHD
T21 527-544 disease:C0009402 denotes colorectal cancer
T22 457-460 gene:201163 denotes BHD
T23 519-522 disease:C0007134 denotes RCC
T24 457-460 gene:50947 denotes BHD
T25 527-544 disease:C0009402 denotes colorectal cancer
T26 457-460 gene:50947 denotes BHD
T27 527-544 disease:C1527249 denotes colorectal cancer
T28 457-460 gene:201163 denotes BHD
T29 527-544 disease:C0009402 denotes colorectal cancer
T30 457-460 gene:201163 denotes BHD
T31 527-544 disease:C1527249 denotes colorectal cancer
T32 457-460 gene:50947 denotes BHD
T33 546-549 disease:C0009402 denotes CRC
T34 457-460 gene:50947 denotes BHD
T35 546-549 disease:C1527249 denotes CRC
T36 457-460 gene:201163 denotes BHD
T37 546-549 disease:C0009402 denotes CRC
T38 457-460 gene:201163 denotes BHD
T39 546-549 disease:C1527249 denotes CRC
R1 T0 T1 associated_with tumour suppressor,colorectal cancer
R2 T2 T3 associated_with tumour suppressor,colorectal cancer
R3 T4 T5 associated_with BHD,cancer
R4 T6 T7 associated_with BHD,cancer
R5 T8 T9 associated_with BHD,cancer
R6 T10 T11 associated_with BHD,cancer
R7 T12 T13 associated_with BHD,RCC
R8 T14 T15 associated_with BHD,colorectal cancer
R9 T16 T17 associated_with BHD,colorectal cancer
R10 T18 T19 associated_with BHD,colorectal cancer
R11 T20 T21 associated_with BHD,colorectal cancer
R12 T22 T23 associated_with BHD,RCC
R13 T24 T25 associated_with BHD,colorectal cancer
R14 T26 T27 associated_with BHD,colorectal cancer
R15 T28 T29 associated_with BHD,colorectal cancer
R16 T30 T31 associated_with BHD,colorectal cancer
R17 T32 T33 associated_with BHD,CRC
R18 T34 T35 associated_with BHD,CRC
R19 T36 T37 associated_with BHD,CRC
R20 T38 T39 associated_with BHD,CRC