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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-77 Sentence denotes TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia.
TextSentencer_T2 78-235 Sentence denotes Variants in transmembrane protein 106 B (TMEM106B) modify the disease penetrance of frontotemporal dementia (FTD) in carriers of progranulin (GRN) mutations.
TextSentencer_T3 236-378 Sentence denotes We investigated whether TMEM106B is also a genetic modifier of disease in carriers of chromosome 9 open reading frame 72 (C9ORF72) expansions.
TextSentencer_T4 379-679 Sentence denotes We assessed the genotype of 325 C9ORF72 expansion carriers (cohort 1), 586 FTD patients lacking C9ORF72 expansions [with or without motor neuron disease (MND); cohort 2], and a total of 1,302 controls for TMEM106B variants (rs3173615 and rs1990622) using MassArray iPLEX and Taqman genotyping assays.
TextSentencer_T5 680-791 Sentence denotes For our primary analysis, we focused on functional variant rs3173615, and employed a recessive genotypic model.
TextSentencer_T6 792-1043 Sentence denotes In cohort 1, patients with C9ORF72 expansions showed a significantly reduced frequency of carriers homozygous for the minor allele as compared to controls [11.9 vs. 19.1 %, odds ratio (OR) 0.57, p = 0.014; same direction as carriers of GRN mutations].
TextSentencer_T7 1044-1251 Sentence denotes The strongest evidence was provided by FTD patients (OR 0.33, p = 0.009) followed by FTD/MND patients (OR 0.38, p = 0.017), whereas no significant difference was observed in MND patients (OR 0.85, p = 0.55).
TextSentencer_T8 1252-1601 Sentence denotes In cohort 2, the frequency of carriers homozygous for the minor allele was not significantly reduced in patients as compared to controls (OR 0.77, p = 0.079); however, a significant reduction was observed when focusing on those patients with frontotemporal lobar degeneration and TAR DNA-binding protein 43 inclusions (FTLD-TDP; OR 0.26, p < 0.001).
TextSentencer_T9 1602-1721 Sentence denotes Our study identifies TMEM106B as the first genetic factor modifying disease presentation in C9ORF72 expansion carriers.
TextSentencer_T10 1722-1902 Sentence denotes Homozygosity for the minor allele protects carriers from developing FTD, but not from developing MND; similar effects are seen in FTLD-TDP patients with yet unknown genetic causes.
TextSentencer_T11 1903-2133 Sentence denotes These new findings show that the protective effects of TMEM106B are not confined to carriers of GRN mutations and might be relevant for prognostic testing, and as a promising therapeutic target for the entire spectrum of FTLD-TDP.
T1 0-77 Sentence denotes TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia.
T2 78-235 Sentence denotes Variants in transmembrane protein 106 B (TMEM106B) modify the disease penetrance of frontotemporal dementia (FTD) in carriers of progranulin (GRN) mutations.
T3 236-378 Sentence denotes We investigated whether TMEM106B is also a genetic modifier of disease in carriers of chromosome 9 open reading frame 72 (C9ORF72) expansions.
T4 379-679 Sentence denotes We assessed the genotype of 325 C9ORF72 expansion carriers (cohort 1), 586 FTD patients lacking C9ORF72 expansions [with or without motor neuron disease (MND); cohort 2], and a total of 1,302 controls for TMEM106B variants (rs3173615 and rs1990622) using MassArray iPLEX and Taqman genotyping assays.
T5 680-791 Sentence denotes For our primary analysis, we focused on functional variant rs3173615, and employed a recessive genotypic model.
T6 792-1043 Sentence denotes In cohort 1, patients with C9ORF72 expansions showed a significantly reduced frequency of carriers homozygous for the minor allele as compared to controls [11.9 vs. 19.1 %, odds ratio (OR) 0.57, p = 0.014; same direction as carriers of GRN mutations].
T7 1044-1251 Sentence denotes The strongest evidence was provided by FTD patients (OR 0.33, p = 0.009) followed by FTD/MND patients (OR 0.38, p = 0.017), whereas no significant difference was observed in MND patients (OR 0.85, p = 0.55).
T8 1252-1601 Sentence denotes In cohort 2, the frequency of carriers homozygous for the minor allele was not significantly reduced in patients as compared to controls (OR 0.77, p = 0.079); however, a significant reduction was observed when focusing on those patients with frontotemporal lobar degeneration and TAR DNA-binding protein 43 inclusions (FTLD-TDP; OR 0.26, p < 0.001).
T9 1602-1721 Sentence denotes Our study identifies TMEM106B as the first genetic factor modifying disease presentation in C9ORF72 expansion carriers.
T10 1722-1902 Sentence denotes Homozygosity for the minor allele protects carriers from developing FTD, but not from developing MND; similar effects are seen in FTLD-TDP patients with yet unknown genetic causes.
T11 1903-2133 Sentence denotes These new findings show that the protective effects of TMEM106B are not confined to carriers of GRN mutations and might be relevant for prognostic testing, and as a promising therapeutic target for the entire spectrum of FTLD-TDP.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 18-25 gene:203228 denotes C9ORF72
T1 53-76 disease:C0338451 denotes frontotemporal dementia
T2 18-25 gene:203228 denotes C9ORF72
T3 53-76 disease:C0236642 denotes frontotemporal dementia
T4 0-8 gene:54664 denotes TMEM106B
T5 53-76 disease:C0338451 denotes frontotemporal dementia
T6 0-8 gene:54664 denotes TMEM106B
T7 53-76 disease:C0236642 denotes frontotemporal dementia
T8 119-127 gene:54664 denotes TMEM106B
T9 162-185 disease:C0338451 denotes frontotemporal dementia
T10 90-117 gene:54664 denotes transmembrane protein 106 B
T11 162-185 disease:C0338451 denotes frontotemporal dementia
T12 90-117 gene:54664 denotes transmembrane protein 106 B
T13 162-185 disease:C0236642 denotes frontotemporal dementia
T14 90-117 gene:54664 denotes transmembrane protein 106 B
T15 187-190 disease:C0338451 denotes FTD
T16 90-117 gene:54664 denotes transmembrane protein 106 B
T17 187-190 disease:C0236642 denotes FTD
T18 220-223 gene:2896 denotes GRN
T19 187-190 disease:C0236642 denotes FTD
T20 119-127 gene:54664 denotes TMEM106B
T21 162-185 disease:C0236642 denotes frontotemporal dementia
T22 119-127 gene:54664 denotes TMEM106B
T23 187-190 disease:C0338451 denotes FTD
T24 220-223 gene:2896 denotes GRN
T25 187-190 disease:C0338451 denotes FTD
T26 207-218 gene:2896 denotes progranulin
T27 162-185 disease:C0338451 denotes frontotemporal dementia
T28 207-218 gene:2896 denotes progranulin
T29 162-185 disease:C0236642 denotes frontotemporal dementia
T30 207-218 gene:2896 denotes progranulin
T31 187-190 disease:C0338451 denotes FTD
T32 207-218 gene:2896 denotes progranulin
T33 187-190 disease:C0236642 denotes FTD
T34 220-223 gene:2896 denotes GRN
T35 162-185 disease:C0338451 denotes frontotemporal dementia
T36 220-223 gene:2896 denotes GRN
T37 162-185 disease:C0236642 denotes frontotemporal dementia
T38 119-127 gene:54664 denotes TMEM106B
T39 187-190 disease:C0236642 denotes FTD
T40 584-592 gene:54664 denotes TMEM106B
T41 533-536 disease:C0085084 denotes MND
T42 584-592 gene:54664 denotes TMEM106B
T43 511-531 disease:C0085084 denotes motor neuron disease
T44 475-482 gene:203228 denotes C9ORF72
T45 533-536 disease:C0085084 denotes MND
T46 475-482 gene:203228 denotes C9ORF72
T47 511-531 disease:C0085084 denotes motor neuron disease
T48 411-418 gene:203228 denotes C9ORF72
T49 511-531 disease:C0085084 denotes motor neuron disease
R1 T0 T1 associated_with C9ORF72,frontotemporal dementia
R2 T2 T3 associated_with C9ORF72,frontotemporal dementia
R3 T4 T5 associated_with TMEM106B,frontotemporal dementia
R4 T6 T7 associated_with TMEM106B,frontotemporal dementia
R5 T8 T9 associated_with TMEM106B,frontotemporal dementia
R6 T10 T11 associated_with transmembrane protein 106 B,frontotemporal dementia
R7 T12 T13 associated_with transmembrane protein 106 B,frontotemporal dementia
R8 T14 T15 associated_with transmembrane protein 106 B,FTD
R9 T16 T17 associated_with transmembrane protein 106 B,FTD
R10 T18 T19 associated_with GRN,FTD
R11 T20 T21 associated_with TMEM106B,frontotemporal dementia
R12 T22 T23 associated_with TMEM106B,FTD
R13 T24 T25 associated_with GRN,FTD
R14 T26 T27 associated_with progranulin,frontotemporal dementia
R15 T28 T29 associated_with progranulin,frontotemporal dementia
R16 T30 T31 associated_with progranulin,FTD
R17 T32 T33 associated_with progranulin,FTD
R18 T34 T35 associated_with GRN,frontotemporal dementia
R19 T36 T37 associated_with GRN,frontotemporal dementia
R20 T38 T39 associated_with TMEM106B,FTD
R21 T40 T41 associated_with TMEM106B,MND
R22 T42 T43 associated_with TMEM106B,motor neuron disease
R23 T44 T45 associated_with C9ORF72,MND
R24 T46 T47 associated_with C9ORF72,motor neuron disease
R25 T48 T49 associated_with C9ORF72,motor neuron disease

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 162-185 HP_0002145 denotes frontotemporal dementia
T2 177-185 HP_0000726 denotes dementia

Allie

Id Subject Object Predicate Lexical cue
SS1_24385136_1_0 90-117 expanded denotes transmembrane protein 106 B
SS2_24385136_1_0 119-127 abbr denotes TMEM106B
SS1_24385136_1_1 162-185 expanded denotes frontotemporal dementia
SS2_24385136_1_1 187-190 abbr denotes FTD
SS1_24385136_2_0 322-356 expanded denotes chromosome 9 open reading frame 72
SS2_24385136_2_0 358-365 abbr denotes C9ORF72
SS1_24385136_3_0 511-531 expanded denotes motor neuron disease
SS2_24385136_3_0 533-536 abbr denotes MND
SS1_24385136_5_0 965-975 expanded denotes odds ratio
SS2_24385136_5_0 977-979 abbr denotes OR
AE1_24385136_1_0 SS1_24385136_1_0 SS2_24385136_1_0 abbreviatedTo transmembrane protein 106 B,TMEM106B
AE1_24385136_1_1 SS1_24385136_1_1 SS2_24385136_1_1 abbreviatedTo frontotemporal dementia,FTD
AE1_24385136_2_0 SS1_24385136_2_0 SS2_24385136_2_0 abbreviatedTo chromosome 9 open reading frame 72,C9ORF72
AE1_24385136_3_0 SS1_24385136_3_0 SS2_24385136_3_0 abbreviatedTo motor neuron disease,MND
AE1_24385136_5_0 SS1_24385136_5_0 SS2_24385136_5_0 abbreviatedTo odds ratio,OR

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
24385136-3#224#233#geners3173615 603-612 geners3173615 denotes rs3173615
24385136-3#238#247#geners1990622 617-626 geners1990622 denotes rs1990622
24385136-3#132#152#diseaseC0085084 511-531 diseaseC0085084 denotes motor neuron disease
24385136-3#154#157#diseaseC0085084 533-536 diseaseC0085084 denotes MND
24385136-3#132#152#diseaseC0085084 511-531 diseaseC0085084 denotes motor neuron disease
24385136-3#154#157#diseaseC0085084 533-536 diseaseC0085084 denotes MND
224#233#geners3173615132#152#diseaseC0085084 24385136-3#224#233#geners3173615 24385136-3#132#152#diseaseC0085084 associated_with rs3173615,motor neuron disease
224#233#geners3173615154#157#diseaseC0085084 24385136-3#224#233#geners3173615 24385136-3#154#157#diseaseC0085084 associated_with rs3173615,MND
224#233#geners3173615132#152#diseaseC0085084 24385136-3#224#233#geners3173615 24385136-3#132#152#diseaseC0085084 associated_with rs3173615,motor neuron disease
224#233#geners3173615154#157#diseaseC0085084 24385136-3#224#233#geners3173615 24385136-3#154#157#diseaseC0085084 associated_with rs3173615,MND
238#247#geners1990622132#152#diseaseC0085084 24385136-3#238#247#geners1990622 24385136-3#132#152#diseaseC0085084 associated_with rs1990622,motor neuron disease
238#247#geners1990622154#157#diseaseC0085084 24385136-3#238#247#geners1990622 24385136-3#154#157#diseaseC0085084 associated_with rs1990622,MND
238#247#geners1990622132#152#diseaseC0085084 24385136-3#238#247#geners1990622 24385136-3#132#152#diseaseC0085084 associated_with rs1990622,motor neuron disease
238#247#geners1990622154#157#diseaseC0085084 24385136-3#238#247#geners1990622 24385136-3#154#157#diseaseC0085084 associated_with rs1990622,MND

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
24385136-0#18#25#gene203228 819-826 gene203228 denotes C9ORF72
24385136-0#53#76#diseaseC0236642 1184-1706 diseaseC0236642 denotes ficant difference was observed in MND patients (OR 0.85, p = 0.55). In cohort 2, the frequency of carriers homozygous for the minor allele was not significantly reduced in patients as compared to controls (OR 0.77, p = 0.079); however, a significant reduction was observed when focusing on those patients with frontotemporal lobar degeneration and TAR DNA-binding protein 43 inclusions (FTLD-TDP; OR 0.26, p < 0.001). Our study identifies TMEM106B as the first genetic factor modifying disease presentation in C9ORF72 expa
24385136-0#53#76#diseaseC0338451 1184-1706 diseaseC0338451 denotes ficant difference was observed in MND patients (OR 0.85, p = 0.55). In cohort 2, the frequency of carriers homozygous for the minor allele was not significantly reduced in patients as compared to controls (OR 0.77, p = 0.079); however, a significant reduction was observed when focusing on those patients with frontotemporal lobar degeneration and TAR DNA-binding protein 43 inclusions (FTLD-TDP; OR 0.26, p < 0.001). Our study identifies TMEM106B as the first genetic factor modifying disease presentation in C9ORF72 expa
24385136-1#12#39#gene54664 90-117 gene54664 denotes transmembrane protein 106 B
24385136-1#41#49#gene54664 119-127 gene54664 denotes TMEM106B
24385136-1#129#140#gene2896 207-218 gene2896 denotes progranulin
24385136-1#142#145#gene2896 220-223 gene2896 denotes GRN
24385136-1#84#107#diseaseC0338451 162-185 diseaseC0338451 denotes frontotemporal dementia
24385136-1#109#112#diseaseC0338451 187-190 diseaseC0338451 denotes FTD
24385136-1#84#107#diseaseC0338451 162-185 diseaseC0338451 denotes frontotemporal dementia
24385136-1#109#112#diseaseC0338451 187-190 diseaseC0338451 denotes FTD
24385136-1#84#107#diseaseC0338451 162-185 diseaseC0338451 denotes frontotemporal dementia
24385136-1#109#112#diseaseC0338451 187-190 diseaseC0338451 denotes FTD
24385136-1#84#107#diseaseC0338451 162-185 diseaseC0338451 denotes frontotemporal dementia
24385136-1#109#112#diseaseC0338451 187-190 diseaseC0338451 denotes FTD
24385136-3#32#39#gene203228 411-418 gene203228 denotes C9ORF72
24385136-3#96#103#gene203228 475-482 gene203228 denotes C9ORF72
24385136-3#205#213#gene54664 584-592 gene54664 denotes TMEM106B
24385136-3#132#152#diseaseC0085084 511-531 diseaseC0085084 denotes motor neuron disease
24385136-3#154#157#diseaseC0085084 533-536 diseaseC0085084 denotes MND
24385136-3#132#152#diseaseC0085084 511-531 diseaseC0085084 denotes motor neuron disease
24385136-3#154#157#diseaseC0085084 533-536 diseaseC0085084 denotes MND
18#25#gene20322853#76#diseaseC0236642 24385136-0#18#25#gene203228 24385136-0#53#76#diseaseC0236642 associated_with C9ORF72,"ficant difference was observed in MND patients (OR 0.85, p = 0.55). In cohort 2, the frequency of carriers homozygous for the minor allele was not significantly reduced in patients as compared to controls (OR 0.77, p = 0.079); however, a significant reduction was observed when focusing on those patients with frontotemporal lobar degeneration and TAR DNA-binding protein 43 inclusions (FTLD-TDP; OR 0.26, p < 0.001). Our study identifies TMEM106B as the first genetic factor modifying disease presentation in C9ORF72 expa"
18#25#gene20322853#76#diseaseC0338451 24385136-0#18#25#gene203228 24385136-0#53#76#diseaseC0338451 associated_with C9ORF72,"ficant difference was observed in MND patients (OR 0.85, p = 0.55). In cohort 2, the frequency of carriers homozygous for the minor allele was not significantly reduced in patients as compared to controls (OR 0.77, p = 0.079); however, a significant reduction was observed when focusing on those patients with frontotemporal lobar degeneration and TAR DNA-binding protein 43 inclusions (FTLD-TDP; OR 0.26, p < 0.001). Our study identifies TMEM106B as the first genetic factor modifying disease presentation in C9ORF72 expa"
12#39#gene5466484#107#diseaseC0338451 24385136-1#12#39#gene54664 24385136-1#84#107#diseaseC0338451 associated_with transmembrane protein 106 B,frontotemporal dementia
12#39#gene54664109#112#diseaseC0338451 24385136-1#12#39#gene54664 24385136-1#109#112#diseaseC0338451 associated_with transmembrane protein 106 B,FTD
12#39#gene5466484#107#diseaseC0338451 24385136-1#12#39#gene54664 24385136-1#84#107#diseaseC0338451 associated_with transmembrane protein 106 B,frontotemporal dementia
12#39#gene54664109#112#diseaseC0338451 24385136-1#12#39#gene54664 24385136-1#109#112#diseaseC0338451 associated_with transmembrane protein 106 B,FTD
12#39#gene5466484#107#diseaseC0338451 24385136-1#12#39#gene54664 24385136-1#84#107#diseaseC0338451 associated_with transmembrane protein 106 B,frontotemporal dementia
12#39#gene54664109#112#diseaseC0338451 24385136-1#12#39#gene54664 24385136-1#109#112#diseaseC0338451 associated_with transmembrane protein 106 B,FTD
12#39#gene5466484#107#diseaseC0338451 24385136-1#12#39#gene54664 24385136-1#84#107#diseaseC0338451 associated_with transmembrane protein 106 B,frontotemporal dementia
12#39#gene54664109#112#diseaseC0338451 24385136-1#12#39#gene54664 24385136-1#109#112#diseaseC0338451 associated_with transmembrane protein 106 B,FTD
41#49#gene5466484#107#diseaseC0338451 24385136-1#41#49#gene54664 24385136-1#84#107#diseaseC0338451 associated_with TMEM106B,frontotemporal dementia
41#49#gene54664109#112#diseaseC0338451 24385136-1#41#49#gene54664 24385136-1#109#112#diseaseC0338451 associated_with TMEM106B,FTD
41#49#gene5466484#107#diseaseC0338451 24385136-1#41#49#gene54664 24385136-1#84#107#diseaseC0338451 associated_with TMEM106B,frontotemporal dementia
41#49#gene54664109#112#diseaseC0338451 24385136-1#41#49#gene54664 24385136-1#109#112#diseaseC0338451 associated_with TMEM106B,FTD
41#49#gene5466484#107#diseaseC0338451 24385136-1#41#49#gene54664 24385136-1#84#107#diseaseC0338451 associated_with TMEM106B,frontotemporal dementia
41#49#gene54664109#112#diseaseC0338451 24385136-1#41#49#gene54664 24385136-1#109#112#diseaseC0338451 associated_with TMEM106B,FTD
41#49#gene5466484#107#diseaseC0338451 24385136-1#41#49#gene54664 24385136-1#84#107#diseaseC0338451 associated_with TMEM106B,frontotemporal dementia
41#49#gene54664109#112#diseaseC0338451 24385136-1#41#49#gene54664 24385136-1#109#112#diseaseC0338451 associated_with TMEM106B,FTD
129#140#gene289684#107#diseaseC0338451 24385136-1#129#140#gene2896 24385136-1#84#107#diseaseC0338451 associated_with progranulin,frontotemporal dementia
129#140#gene2896109#112#diseaseC0338451 24385136-1#129#140#gene2896 24385136-1#109#112#diseaseC0338451 associated_with progranulin,FTD
129#140#gene289684#107#diseaseC0338451 24385136-1#129#140#gene2896 24385136-1#84#107#diseaseC0338451 associated_with progranulin,frontotemporal dementia
129#140#gene2896109#112#diseaseC0338451 24385136-1#129#140#gene2896 24385136-1#109#112#diseaseC0338451 associated_with progranulin,FTD
129#140#gene289684#107#diseaseC0338451 24385136-1#129#140#gene2896 24385136-1#84#107#diseaseC0338451 associated_with progranulin,frontotemporal dementia
129#140#gene2896109#112#diseaseC0338451 24385136-1#129#140#gene2896 24385136-1#109#112#diseaseC0338451 associated_with progranulin,FTD
129#140#gene289684#107#diseaseC0338451 24385136-1#129#140#gene2896 24385136-1#84#107#diseaseC0338451 associated_with progranulin,frontotemporal dementia
129#140#gene2896109#112#diseaseC0338451 24385136-1#129#140#gene2896 24385136-1#109#112#diseaseC0338451 associated_with progranulin,FTD
142#145#gene289684#107#diseaseC0338451 24385136-1#142#145#gene2896 24385136-1#84#107#diseaseC0338451 associated_with GRN,frontotemporal dementia
142#145#gene2896109#112#diseaseC0338451 24385136-1#142#145#gene2896 24385136-1#109#112#diseaseC0338451 associated_with GRN,FTD
142#145#gene289684#107#diseaseC0338451 24385136-1#142#145#gene2896 24385136-1#84#107#diseaseC0338451 associated_with GRN,frontotemporal dementia
142#145#gene2896109#112#diseaseC0338451 24385136-1#142#145#gene2896 24385136-1#109#112#diseaseC0338451 associated_with GRN,FTD
142#145#gene289684#107#diseaseC0338451 24385136-1#142#145#gene2896 24385136-1#84#107#diseaseC0338451 associated_with GRN,frontotemporal dementia
142#145#gene2896109#112#diseaseC0338451 24385136-1#142#145#gene2896 24385136-1#109#112#diseaseC0338451 associated_with GRN,FTD
142#145#gene289684#107#diseaseC0338451 24385136-1#142#145#gene2896 24385136-1#84#107#diseaseC0338451 associated_with GRN,frontotemporal dementia
142#145#gene2896109#112#diseaseC0338451 24385136-1#142#145#gene2896 24385136-1#109#112#diseaseC0338451 associated_with GRN,FTD
32#39#gene203228132#152#diseaseC0085084 24385136-3#32#39#gene203228 24385136-3#132#152#diseaseC0085084 associated_with C9ORF72,motor neuron disease
32#39#gene203228154#157#diseaseC0085084 24385136-3#32#39#gene203228 24385136-3#154#157#diseaseC0085084 associated_with C9ORF72,MND
32#39#gene203228132#152#diseaseC0085084 24385136-3#32#39#gene203228 24385136-3#132#152#diseaseC0085084 associated_with C9ORF72,motor neuron disease
32#39#gene203228154#157#diseaseC0085084 24385136-3#32#39#gene203228 24385136-3#154#157#diseaseC0085084 associated_with C9ORF72,MND
96#103#gene203228132#152#diseaseC0085084 24385136-3#96#103#gene203228 24385136-3#132#152#diseaseC0085084 associated_with C9ORF72,motor neuron disease
96#103#gene203228154#157#diseaseC0085084 24385136-3#96#103#gene203228 24385136-3#154#157#diseaseC0085084 associated_with C9ORF72,MND
96#103#gene203228132#152#diseaseC0085084 24385136-3#96#103#gene203228 24385136-3#132#152#diseaseC0085084 associated_with C9ORF72,motor neuron disease
96#103#gene203228154#157#diseaseC0085084 24385136-3#96#103#gene203228 24385136-3#154#157#diseaseC0085084 associated_with C9ORF72,MND
205#213#gene54664132#152#diseaseC0085084 24385136-3#205#213#gene54664 24385136-3#132#152#diseaseC0085084 associated_with TMEM106B,motor neuron disease
205#213#gene54664154#157#diseaseC0085084 24385136-3#205#213#gene54664 24385136-3#154#157#diseaseC0085084 associated_with TMEM106B,MND
205#213#gene54664132#152#diseaseC0085084 24385136-3#205#213#gene54664 24385136-3#132#152#diseaseC0085084 associated_with TMEM106B,motor neuron disease
205#213#gene54664154#157#diseaseC0085084 24385136-3#205#213#gene54664 24385136-3#154#157#diseaseC0085084 associated_with TMEM106B,MND

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T951 819-826 gene:203228 denotes C9ORF72
T952 1184-1706 disease:C0236642 denotes ficant difference was observed in MND patients (OR 0.85, p = 0.55). In cohort 2, the frequency of carriers homozygous for the minor allele was not significantly reduced in patients as compared to controls (OR 0.77, p = 0.079); however, a significant reduction was observed when focusing on those patients with frontotemporal lobar degeneration and TAR DNA-binding protein 43 inclusions (FTLD-TDP; OR 0.26, p < 0.001). Our study identifies TMEM106B as the first genetic factor modifying disease presentation in C9ORF72 expa
R1 T951 T952 associated_with C9ORF72,"ficant difference was observed in MND patients (OR 0.85, p = 0.55). In cohort 2, the frequency of carriers homozygous for the minor allele was not significantly reduced in patients as compared to controls (OR 0.77, p = 0.079); however, a significant reduction was observed when focusing on those patients with frontotemporal lobar degeneration and TAR DNA-binding protein 43 inclusions (FTLD-TDP; OR 0.26, p < 0.001). Our study identifies TMEM106B as the first genetic factor modifying disease presentation in C9ORF72 expa"
R2 T951 T952 associated_with C9ORF72,"ficant difference was observed in MND patients (OR 0.85, p = 0.55). In cohort 2, the frequency of carriers homozygous for the minor allele was not significantly reduced in patients as compared to controls (OR 0.77, p = 0.079); however, a significant reduction was observed when focusing on those patients with frontotemporal lobar degeneration and TAR DNA-binding protein 43 inclusions (FTLD-TDP; OR 0.26, p < 0.001). Our study identifies TMEM106B as the first genetic factor modifying disease presentation in C9ORF72 expa"

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 517-523 http://purl.obolibrary.org/obo/UBERON_2000602 denotes neuron