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DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
16957682-0#8#13#geners121434419 8-13 geners121434419 denotes R486Q
16957682-0#8#13#geners140047318 8-13 geners140047318 denotes R486Q
16957682-0#8#13#geners121434419 8-13 geners121434419 denotes R486Q
16957682-0#8#13#geners140047318 8-13 geners140047318 denotes R486Q
16957682-0#8#13#geners121434419 8-13 geners121434419 denotes R486Q
16957682-0#8#13#geners140047318 8-13 geners140047318 denotes R486Q
16957682-0#55#75#diseaseC1862103 55-75 diseaseC1862103 denotes brachydactyly type C
16957682-0#76#89#diseaseC0039075 76-89 diseaseC0039075 denotes symphalangism
16957682-0#108#129#diseaseC1832702 108-129 diseaseC1832702 denotes brachydactyly type A2
16957682-3#46#51#geners121434419 504-509 geners121434419 denotes R486Q
16957682-3#46#51#geners140047318 504-509 geners140047318 denotes R486Q
16957682-3#98#102#diseaseC3714899 556-560 diseaseC3714899 denotes SYM1
16957682-4#127#132#geners121434418 704-709 geners121434418 denotes R486W
16957682-4#127#132#geners780280883 704-709 geners780280883 denotes R486W
16957682-4#105#109#diseaseC1832702 682-686 diseaseC1832702 denotes BDA2
8#13#geners12143441955#75#diseaseC1862103 16957682-0#8#13#geners121434419 16957682-0#55#75#diseaseC1862103 associated_with R486Q,brachydactyly type C
8#13#geners12143441976#89#diseaseC0039075 16957682-0#8#13#geners121434419 16957682-0#76#89#diseaseC0039075 associated_with R486Q,symphalangism
8#13#geners121434419108#129#diseaseC1832702 16957682-0#8#13#geners121434419 16957682-0#108#129#diseaseC1832702 associated_with R486Q,brachydactyly type A2
8#13#geners14004731855#75#diseaseC1862103 16957682-0#8#13#geners140047318 16957682-0#55#75#diseaseC1862103 associated_with R486Q,brachydactyly type C
8#13#geners14004731876#89#diseaseC0039075 16957682-0#8#13#geners140047318 16957682-0#76#89#diseaseC0039075 associated_with R486Q,symphalangism
8#13#geners140047318108#129#diseaseC1832702 16957682-0#8#13#geners140047318 16957682-0#108#129#diseaseC1832702 associated_with R486Q,brachydactyly type A2
8#13#geners12143441955#75#diseaseC1862103 16957682-0#8#13#geners121434419 16957682-0#55#75#diseaseC1862103 associated_with R486Q,brachydactyly type C
8#13#geners12143441976#89#diseaseC0039075 16957682-0#8#13#geners121434419 16957682-0#76#89#diseaseC0039075 associated_with R486Q,symphalangism
8#13#geners121434419108#129#diseaseC1832702 16957682-0#8#13#geners121434419 16957682-0#108#129#diseaseC1832702 associated_with R486Q,brachydactyly type A2
8#13#geners14004731855#75#diseaseC1862103 16957682-0#8#13#geners140047318 16957682-0#55#75#diseaseC1862103 associated_with R486Q,brachydactyly type C
8#13#geners14004731876#89#diseaseC0039075 16957682-0#8#13#geners140047318 16957682-0#76#89#diseaseC0039075 associated_with R486Q,symphalangism
8#13#geners140047318108#129#diseaseC1832702 16957682-0#8#13#geners140047318 16957682-0#108#129#diseaseC1832702 associated_with R486Q,brachydactyly type A2
8#13#geners12143441955#75#diseaseC1862103 16957682-0#8#13#geners121434419 16957682-0#55#75#diseaseC1862103 associated_with R486Q,brachydactyly type C
8#13#geners12143441976#89#diseaseC0039075 16957682-0#8#13#geners121434419 16957682-0#76#89#diseaseC0039075 associated_with R486Q,symphalangism
8#13#geners121434419108#129#diseaseC1832702 16957682-0#8#13#geners121434419 16957682-0#108#129#diseaseC1832702 associated_with R486Q,brachydactyly type A2
8#13#geners14004731855#75#diseaseC1862103 16957682-0#8#13#geners140047318 16957682-0#55#75#diseaseC1862103 associated_with R486Q,brachydactyly type C
8#13#geners14004731876#89#diseaseC0039075 16957682-0#8#13#geners140047318 16957682-0#76#89#diseaseC0039075 associated_with R486Q,symphalangism
8#13#geners140047318108#129#diseaseC1832702 16957682-0#8#13#geners140047318 16957682-0#108#129#diseaseC1832702 associated_with R486Q,brachydactyly type A2
46#51#geners12143441998#102#diseaseC3714899 16957682-3#46#51#geners121434419 16957682-3#98#102#diseaseC3714899 associated_with R486Q,SYM1
46#51#geners14004731898#102#diseaseC3714899 16957682-3#46#51#geners140047318 16957682-3#98#102#diseaseC3714899 associated_with R486Q,SYM1
127#132#geners121434418105#109#diseaseC1832702 16957682-4#127#132#geners121434418 16957682-4#105#109#diseaseC1832702 associated_with R486W,BDA2
127#132#geners780280883105#109#diseaseC1832702 16957682-4#127#132#geners780280883 16957682-4#105#109#diseaseC1832702 associated_with R486W,BDA2

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
16957682-0#26#32#gene658 26-32 gene658 denotes BMPR1B
16957682-0#55#75#diseaseC1862103 55-75 diseaseC1862103 denotes brachydactyly type C
16957682-0#76#89#diseaseC0039075 76-89 diseaseC0039075 denotes symphalangism
16957682-0#108#129#diseaseC1832702 108-129 diseaseC1832702 denotes brachydactyly type A2
16957682-1#175#179#gene8200 306-310 gene8200 denotes GDF5
16957682-1#99#120#diseaseC1832702 230-251 diseaseC1832702 denotes brachydactyly type A2
16957682-1#186#206#diseaseC1862103 317-337 diseaseC1862103 denotes brachydactyly type C
16957682-1#208#211#diseaseC1862103 339-342 diseaseC1862103 denotes BDC
16957682-2#17#20#gene5047 362-365 gene5047 denotes GDF
16957682-2#31#37#gene9241 376-382 gene9241 denotes Noggin
16957682-2#39#42#gene9241 384-387 gene9241 denotes NOG
16957682-2#71#75#gene8200 416-420 gene8200 denotes GDF5
16957682-2#82#104#diseaseC1861385 427-449 diseaseC1861385 denotes proximal symphalangism
16957682-2#106#110#diseaseC3714899 451-455 diseaseC3714899 denotes SYM1
16957682-2#82#104#diseaseC1861385 427-449 diseaseC1861385 denotes proximal symphalangism
16957682-2#106#110#diseaseC3714899 451-455 diseaseC3714899 denotes SYM1
16957682-2#82#104#diseaseC1861385 427-449 diseaseC1861385 denotes proximal symphalangism
16957682-2#106#110#diseaseC3714899 451-455 diseaseC3714899 denotes SYM1
16957682-3#38#44#gene658 496-502 gene658 denotes BMPR1B
16957682-3#46#51#gene658 504-509 gene658 denotes R486Q
16957682-3#98#102#diseaseC3714899 556-560 diseaseC3714899 denotes SYM1
26#32#gene65855#75#diseaseC1862103 16957682-0#26#32#gene658 16957682-0#55#75#diseaseC1862103 associated_with BMPR1B,brachydactyly type C
26#32#gene65876#89#diseaseC0039075 16957682-0#26#32#gene658 16957682-0#76#89#diseaseC0039075 associated_with BMPR1B,symphalangism
26#32#gene658108#129#diseaseC1832702 16957682-0#26#32#gene658 16957682-0#108#129#diseaseC1832702 associated_with BMPR1B,brachydactyly type A2
175#179#gene820099#120#diseaseC1832702 16957682-1#175#179#gene8200 16957682-1#99#120#diseaseC1832702 associated_with GDF5,brachydactyly type A2
175#179#gene8200186#206#diseaseC1862103 16957682-1#175#179#gene8200 16957682-1#186#206#diseaseC1862103 associated_with GDF5,brachydactyly type C
175#179#gene8200208#211#diseaseC1862103 16957682-1#175#179#gene8200 16957682-1#208#211#diseaseC1862103 associated_with GDF5,BDC
17#20#gene504782#104#diseaseC1861385 16957682-2#17#20#gene5047 16957682-2#82#104#diseaseC1861385 associated_with GDF,proximal symphalangism
17#20#gene5047106#110#diseaseC3714899 16957682-2#17#20#gene5047 16957682-2#106#110#diseaseC3714899 associated_with GDF,SYM1
17#20#gene504782#104#diseaseC1861385 16957682-2#17#20#gene5047 16957682-2#82#104#diseaseC1861385 associated_with GDF,proximal symphalangism
17#20#gene5047106#110#diseaseC3714899 16957682-2#17#20#gene5047 16957682-2#106#110#diseaseC3714899 associated_with GDF,SYM1
17#20#gene504782#104#diseaseC1861385 16957682-2#17#20#gene5047 16957682-2#82#104#diseaseC1861385 associated_with GDF,proximal symphalangism
17#20#gene5047106#110#diseaseC3714899 16957682-2#17#20#gene5047 16957682-2#106#110#diseaseC3714899 associated_with GDF,SYM1
31#37#gene924182#104#diseaseC1861385 16957682-2#31#37#gene9241 16957682-2#82#104#diseaseC1861385 associated_with Noggin,proximal symphalangism
31#37#gene9241106#110#diseaseC3714899 16957682-2#31#37#gene9241 16957682-2#106#110#diseaseC3714899 associated_with Noggin,SYM1
31#37#gene924182#104#diseaseC1861385 16957682-2#31#37#gene9241 16957682-2#82#104#diseaseC1861385 associated_with Noggin,proximal symphalangism
31#37#gene9241106#110#diseaseC3714899 16957682-2#31#37#gene9241 16957682-2#106#110#diseaseC3714899 associated_with Noggin,SYM1
31#37#gene924182#104#diseaseC1861385 16957682-2#31#37#gene9241 16957682-2#82#104#diseaseC1861385 associated_with Noggin,proximal symphalangism
31#37#gene9241106#110#diseaseC3714899 16957682-2#31#37#gene9241 16957682-2#106#110#diseaseC3714899 associated_with Noggin,SYM1
39#42#gene924182#104#diseaseC1861385 16957682-2#39#42#gene9241 16957682-2#82#104#diseaseC1861385 associated_with NOG,proximal symphalangism
39#42#gene9241106#110#diseaseC3714899 16957682-2#39#42#gene9241 16957682-2#106#110#diseaseC3714899 associated_with NOG,SYM1
39#42#gene924182#104#diseaseC1861385 16957682-2#39#42#gene9241 16957682-2#82#104#diseaseC1861385 associated_with NOG,proximal symphalangism
39#42#gene9241106#110#diseaseC3714899 16957682-2#39#42#gene9241 16957682-2#106#110#diseaseC3714899 associated_with NOG,SYM1
39#42#gene924182#104#diseaseC1861385 16957682-2#39#42#gene9241 16957682-2#82#104#diseaseC1861385 associated_with NOG,proximal symphalangism
39#42#gene9241106#110#diseaseC3714899 16957682-2#39#42#gene9241 16957682-2#106#110#diseaseC3714899 associated_with NOG,SYM1
71#75#gene820082#104#diseaseC1861385 16957682-2#71#75#gene8200 16957682-2#82#104#diseaseC1861385 associated_with GDF5,proximal symphalangism
71#75#gene8200106#110#diseaseC3714899 16957682-2#71#75#gene8200 16957682-2#106#110#diseaseC3714899 associated_with GDF5,SYM1
71#75#gene820082#104#diseaseC1861385 16957682-2#71#75#gene8200 16957682-2#82#104#diseaseC1861385 associated_with GDF5,proximal symphalangism
71#75#gene8200106#110#diseaseC3714899 16957682-2#71#75#gene8200 16957682-2#106#110#diseaseC3714899 associated_with GDF5,SYM1
71#75#gene820082#104#diseaseC1861385 16957682-2#71#75#gene8200 16957682-2#82#104#diseaseC1861385 associated_with GDF5,proximal symphalangism
71#75#gene8200106#110#diseaseC3714899 16957682-2#71#75#gene8200 16957682-2#106#110#diseaseC3714899 associated_with GDF5,SYM1
38#44#gene65898#102#diseaseC3714899 16957682-3#38#44#gene658 16957682-3#98#102#diseaseC3714899 associated_with BMPR1B,SYM1
46#51#gene65898#102#diseaseC3714899 16957682-3#46#51#gene658 16957682-3#98#102#diseaseC3714899 associated_with R486Q,SYM1

BioLarkPubmedHPO

Id Subject Object Predicate Lexical cue
HP:0001156 230-243 HP:0001156 denotes brachydactyly
HP:0009372 230-258 HP:0009372 denotes brachydactyly type A2 (BDA2)
HP:0009373 317-337 HP:0009373 denotes brachydactyly type C
HP:0009373 339-342 HP:0009373 denotes BDC
HP:0006152 427-449 HP:0006152 denotes proximal symphalangism
HP:0006152 451-455 HP:0006152 denotes SYM1
HP:0009372 542-546 HP:0009372 denotes BDA2
HP:0009373 552-555 HP:0009373 denotes BDC
HP:0006152 556-565 HP:0006152 denotes SYM1-like
T1 230-243 HP:0001156 denotes brachydactyly
T2 230-258 HP:0009372 denotes brachydactyly type A2 (BDA2)
T3 317-337 HP:0009373 denotes brachydactyly type C
T4 339-342 HP:0009373 denotes BDC
T5 427-449 HP:0006152 denotes proximal symphalangism
T6 451-455 HP:0006152 denotes SYM1
T7 542-546 HP:0009372 denotes BDA2
T8 552-555 HP:0009373 denotes BDC
T9 556-565 HP:0006152 denotes SYM1-like
T1 230-243 HP:0001156 denotes brachydactyly
T2 230-258 HP:0009372 denotes brachydactyly type A2 (BDA2)
T3 317-337 HP:0009373 denotes brachydactyly type C
T4 339-342 HP:0009373 denotes BDC
T5 427-449 HP:0006152 denotes proximal symphalangism
T6 451-455 HP:0006152 denotes SYM1
T7 542-546 HP:0009372 denotes BDA2
T8 552-555 HP:0009373 denotes BDC
T9 556-565 HP:0006152 denotes SYM1-like
T1 230-243 HP:0001156 denotes brachydactyly
T2 230-258 HP:0009372 denotes brachydactyly type A2 (BDA2)
T3 317-337 HP:0009373 denotes brachydactyly type C
T4 339-342 HP:0009373 denotes BDC
T5 427-449 HP:0006152 denotes proximal symphalangism
T6 451-455 HP:0006152 denotes SYM1
T7 542-546 HP:0009372 denotes BDA2
T8 552-555 HP:0009373 denotes BDC
T9 556-565 HP:0006152 denotes SYM1-like

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 55-68 HP:0001156 denotes brachydactyly
AB1 230-243 HP:0001156 denotes brachydactyly
TI2 108-121 HP:0001156 denotes brachydactyly
AB2 317-330 HP:0001156 denotes brachydactyly
AB3 427-449 HP:0100264 denotes proximal symphalangism

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 55-75 ORDO:93384 denotes brachydactyly type C
AB1 230-251 ORDO:93396 denotes brachydactyly type A2
TI2 108-129 ORDO:93396 denotes brachydactyly type A2
AB2 317-337 ORDO:93384 denotes brachydactyly type C
AB3 427-449 ORDO:3250 denotes proximal symphalangism

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-130 Sentence denotes A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.
TextSentencer_T2 131-344 Sentence denotes Heterozygous missense mutations in the serine-threonine kinase receptor BMPR1B result typically in brachydactyly type A2 (BDA2), whereas mutations in the corresponding ligand GDF5 cause brachydactyly type C (BDC).
TextSentencer_T3 345-457 Sentence denotes Mutations in the GDF inhibitor Noggin (NOG) or activating mutations in GDF5 cause proximal symphalangism (SYM1).
TextSentencer_T4 458-576 Sentence denotes Here, we describe a novel mutation in BMPR1B (R486Q) that is associated with either BDA2 or a BDC/SYM1-like phenotype.
TextSentencer_T5 577-724 Sentence denotes Functional investigations of the R486Q mutation were performed and compared with the previously reported BDA2-causing mutation R486W and WT BMPR1B.
TextSentencer_T6 725-915 Sentence denotes Overexpression of the mutant receptors in chicken micromass cultures resulted in a strong inhibition of chondrogenesis with the R486Q mutant, showing a stronger effect than the R486W mutant.
TextSentencer_T7 916-1127 Sentence denotes To investigate the consequences of the BMPR1B mutations on the intracellular signal transduction, we used stably transfected C2C12 cells and measured the activity of SMAD-dependent and SMAD-independent pathways.
TextSentencer_T8 1128-1203 Sentence denotes SMAD activation after stimulation with GDF5 was suppressed in both mutants.
TextSentencer_T9 1204-1296 Sentence denotes Alkaline phosphatase induction showed an almost complete loss of activation by both mutants.
TextSentencer_T10 1297-1405 Sentence denotes Our data extend the previously known mutational and phenotypic spectrum associated with mutations in BMPR1B.
TextSentencer_T11 1406-1619 Sentence denotes Disturbances of NOG-GDF5-BMPR1B signaling cascade can result in similar clinical manifestations depending on the quantitative effect and mode of action of the specific mutations within the same functional pathway.
T1 0-130 Sentence denotes A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.
T2 131-344 Sentence denotes Heterozygous missense mutations in the serine-threonine kinase receptor BMPR1B result typically in brachydactyly type A2 (BDA2), whereas mutations in the corresponding ligand GDF5 cause brachydactyly type C (BDC).
T3 345-457 Sentence denotes Mutations in the GDF inhibitor Noggin (NOG) or activating mutations in GDF5 cause proximal symphalangism (SYM1).
T4 458-576 Sentence denotes Here, we describe a novel mutation in BMPR1B (R486Q) that is associated with either BDA2 or a BDC/SYM1-like phenotype.
T5 577-724 Sentence denotes Functional investigations of the R486Q mutation were performed and compared with the previously reported BDA2-causing mutation R486W and WT BMPR1B.
T6 725-915 Sentence denotes Overexpression of the mutant receptors in chicken micromass cultures resulted in a strong inhibition of chondrogenesis with the R486Q mutant, showing a stronger effect than the R486W mutant.
T7 916-1127 Sentence denotes To investigate the consequences of the BMPR1B mutations on the intracellular signal transduction, we used stably transfected C2C12 cells and measured the activity of SMAD-dependent and SMAD-independent pathways.
T8 1128-1203 Sentence denotes SMAD activation after stimulation with GDF5 was suppressed in both mutants.
T9 1204-1296 Sentence denotes Alkaline phosphatase induction showed an almost complete loss of activation by both mutants.
T10 1297-1405 Sentence denotes Our data extend the previously known mutational and phenotypic spectrum associated with mutations in BMPR1B.
T11 1406-1619 Sentence denotes Disturbances of NOG-GDF5-BMPR1B signaling cascade can result in similar clinical manifestations depending on the quantitative effect and mode of action of the specific mutations within the same functional pathway.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 26-32 gene:658 denotes BMPR1B
T1 108-129 disease:C1832702 denotes brachydactyly type A2
T2 26-32 gene:658 denotes BMPR1B
T3 76-89 disease:C0039075 denotes symphalangism
T4 26-32 gene:658 denotes BMPR1B
T5 55-75 disease:C1862103 denotes brachydactyly type C
T6 306-310 gene:8200 denotes GDF5
T7 253-257 disease:C1832702 denotes BDA2
T8 306-310 gene:8200 denotes GDF5
T9 317-337 disease:C1862103 denotes brachydactyly type C
T10 306-310 gene:8200 denotes GDF5
T11 339-342 disease:C1266044 denotes BDC
T12 203-209 gene:658 denotes BMPR1B
T13 253-257 disease:C1832702 denotes BDA2
T14 203-209 gene:658 denotes BMPR1B
T15 230-251 disease:C1832702 denotes brachydactyly type A2
T16 170-193 gene:2011 denotes serine-threonine kinase
T17 317-337 disease:C1862103 denotes brachydactyly type C
T18 306-310 gene:8200 denotes GDF5
T19 230-251 disease:C1832702 denotes brachydactyly type A2
T20 170-193 gene:2011 denotes serine-threonine kinase
T21 230-251 disease:C1832702 denotes brachydactyly type A2
T22 203-209 gene:658 denotes BMPR1B
T23 317-337 disease:C1862103 denotes brachydactyly type C
T24 416-420 gene:8200 denotes GDF5
T25 427-449 disease:C1861385 denotes proximal symphalangism
T26 384-387 gene:9241 denotes NOG
T27 451-455 disease:C1861385 denotes SYM1
T28 384-387 gene:9241 denotes NOG
T29 427-449 disease:C1861385 denotes proximal symphalangism
T30 376-382 gene:9241 denotes Noggin
T31 427-449 disease:C1861385 denotes proximal symphalangism
T32 362-365 gene:5047 denotes GDF
T33 451-455 disease:C1861385 denotes SYM1
T34 362-365 gene:5047 denotes GDF
T35 427-449 disease:C1861385 denotes proximal symphalangism
T36 376-382 gene:9241 denotes Noggin
T37 451-455 disease:C1861385 denotes SYM1
T38 416-420 gene:8200 denotes GDF5
T39 451-455 disease:C1861385 denotes SYM1
T40 504-509 gene:658 denotes R486Q
T41 556-560 disease:C1861385 denotes SYM1
T42 504-509 gene:658 denotes R486Q
T43 552-555 disease:C1266044 denotes BDC
T44 504-509 gene:658 denotes R486Q
T45 542-546 disease:C1832702 denotes BDA2
T46 496-502 gene:658 denotes BMPR1B
T47 556-560 disease:C1861385 denotes SYM1
T48 496-502 gene:658 denotes BMPR1B
T49 552-555 disease:C1266044 denotes BDC
T50 496-502 gene:658 denotes BMPR1B
T51 542-546 disease:C1832702 denotes BDA2
R1 T0 T1 associated_with BMPR1B,brachydactyly type A2
R2 T2 T3 associated_with BMPR1B,symphalangism
R3 T4 T5 associated_with BMPR1B,brachydactyly type C
R4 T6 T7 associated_with GDF5,BDA2
R5 T8 T9 associated_with GDF5,brachydactyly type C
R6 T10 T11 associated_with GDF5,BDC
R7 T12 T13 associated_with BMPR1B,BDA2
R8 T14 T15 associated_with BMPR1B,brachydactyly type A2
R9 T16 T17 associated_with serine-threonine kinase,brachydactyly type C
R10 T18 T19 associated_with GDF5,brachydactyly type A2
R11 T20 T21 associated_with serine-threonine kinase,brachydactyly type A2
R12 T22 T23 associated_with BMPR1B,brachydactyly type C
R13 T24 T25 associated_with GDF5,proximal symphalangism
R14 T26 T27 associated_with NOG,SYM1
R15 T28 T29 associated_with NOG,proximal symphalangism
R16 T30 T31 associated_with Noggin,proximal symphalangism
R17 T32 T33 associated_with GDF,SYM1
R18 T34 T35 associated_with GDF,proximal symphalangism
R19 T36 T37 associated_with Noggin,SYM1
R20 T38 T39 associated_with GDF5,SYM1
R21 T40 T41 associated_with R486Q,SYM1
R22 T42 T43 associated_with R486Q,BDC
R23 T44 T45 associated_with R486Q,BDA2
R24 T46 T47 associated_with BMPR1B,SYM1
R25 T48 T49 associated_with BMPR1B,BDC
R26 T50 T51 associated_with BMPR1B,BDA2