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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-93 Sentence denotes Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor:
TextSentencer_T2 94-149 Sentence denotes Is a Bartter-like syndrome a feature of congenital SIR?
TextSentencer_T3 150-329 Sentence denotes Biallelic insulin receptor (INSR) gene mutations cause congenital syndromes of severe insulin resistance (SIR) known as Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS).
TextSentencer_T4 330-548 Sentence denotes At presentation, DS and RMS are difficult to differentiate since they share many clinical features; however, while patients with DS usually die within 1 year of birth, individuals classified as RMS can reach adult age.
TextSentencer_T5 549-680 Sentence denotes INSR mutations can be also found in pubertal females with hyperinsulinism, hyperandrogenism, and acanthosis nigricans (type A SIR).
TextSentencer_T6 681-776 Sentence denotes We studied the INSR gene in five subjects with congenital SIR and in a patient with type A SIR.
TextSentencer_T7 777-1017 Sentence denotes Nine biallelic INSR gene mutations (eight novels, including an in-frame deletion of INSR signal peptide) were identified in patients with congenital SIR; a heterozygous, spontaneous INSR mutation was detected in the patient with type A SIR.
TextSentencer_T8 1018-1212 Sentence denotes Two probands, presenting severe hirsutism at birth, died at the age of 3 months and were classified as DS, while other 2, currently 2 and 3 years old, were diagnosed with RMS (patients 3 and 4).
TextSentencer_T9 1213-1275 Sentence denotes The fifth patient with congenital SIR died when 14 months old.
TextSentencer_T10 1276-1454 Sentence denotes Nephrocalcinosis, hyperaldosteronism, hyperreninemia, and hypokalemia, in the absence of hypertension, were discovered in patients 3 and 5 when 24 and 4 months old, respectively.
TextSentencer_T11 1455-1574 Sentence denotes Patient 3, now 3 years/3 months old, still shows hyperreninemic hyperaldosteronism requiring potassium supplementation.
TextSentencer_T12 1575-1751 Sentence denotes We conclude that renal abnormalities resembling antenatal Bartter's syndrome type II, recently reported also by others, is a common observation in patients with congenital SIR.
T1 0-93 Sentence denotes Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor:
T2 94-149 Sentence denotes Is a Bartter-like syndrome a feature of congenital SIR?
T3 150-329 Sentence denotes Biallelic insulin receptor (INSR) gene mutations cause congenital syndromes of severe insulin resistance (SIR) known as Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS).
T4 330-548 Sentence denotes At presentation, DS and RMS are difficult to differentiate since they share many clinical features; however, while patients with DS usually die within 1 year of birth, individuals classified as RMS can reach adult age.
T5 549-680 Sentence denotes INSR mutations can be also found in pubertal females with hyperinsulinism, hyperandrogenism, and acanthosis nigricans (type A SIR).
T6 681-776 Sentence denotes We studied the INSR gene in five subjects with congenital SIR and in a patient with type A SIR.
T7 777-1017 Sentence denotes Nine biallelic INSR gene mutations (eight novels, including an in-frame deletion of INSR signal peptide) were identified in patients with congenital SIR; a heterozygous, spontaneous INSR mutation was detected in the patient with type A SIR.
T8 1018-1212 Sentence denotes Two probands, presenting severe hirsutism at birth, died at the age of 3 months and were classified as DS, while other 2, currently 2 and 3 years old, were diagnosed with RMS (patients 3 and 4).
T9 1213-1275 Sentence denotes The fifth patient with congenital SIR died when 14 months old.
T10 1276-1454 Sentence denotes Nephrocalcinosis, hyperaldosteronism, hyperreninemia, and hypokalemia, in the absence of hypertension, were discovered in patients 3 and 5 when 24 and 4 months old, respectively.
T11 1455-1574 Sentence denotes Patient 3, now 3 years/3 months old, still shows hyperreninemic hyperaldosteronism requiring potassium supplementation.
T12 1575-1751 Sentence denotes We conclude that renal abnormalities resembling antenatal Bartter's syndrome type II, recently reported also by others, is a common observation in patients with congenital SIR.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 549-553 gene:3643 denotes INSR
T1 607-622 disease:C0020459 denotes hyperinsulinism
T2 549-553 gene:3643 denotes INSR
T3 646-666 disease:C0000889 denotes acanthosis nigricans
R1 T0 T1 associated_with INSR,hyperinsulinism
R2 T2 T3 associated_with INSR,acanthosis nigricans

Allie

Id Subject Object Predicate Lexical cue
SS1_23824322_0_0 15-40 expanded denotes severe insulin resistance
SS2_23824322_0_0 42-45 abbr denotes SIR
SS1_23824322_1_0 160-176 expanded denotes insulin receptor
SS2_23824322_1_0 178-182 abbr denotes INSR
SS1_23824322_1_1 229-254 expanded denotes severe insulin resistance
SS2_23824322_1_1 256-259 abbr denotes SIR
SS1_23824322_1_2 270-286 expanded denotes Donohue syndrome
SS2_23824322_1_2 288-290 abbr denotes DS
SS1_23824322_1_3 296-322 expanded denotes Rabson-Mendenhall syndrome
SS2_23824322_1_3 324-327 abbr denotes RMS
AE1_23824322_0_0 SS1_23824322_0_0 SS2_23824322_0_0 abbreviatedTo severe insulin resistance,SIR
AE1_23824322_1_0 SS1_23824322_1_0 SS2_23824322_1_0 abbreviatedTo insulin receptor,INSR
AE1_23824322_1_1 SS1_23824322_1_1 SS2_23824322_1_1 abbreviatedTo severe insulin resistance,SIR
AE1_23824322_1_2 SS1_23824322_1_2 SS2_23824322_1_2 abbreviatedTo Donohue syndrome,DS
AE1_23824322_1_3 SS1_23824322_1_3 SS2_23824322_1_3 abbreviatedTo Rabson-Mendenhall syndrome,RMS

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 236-254 HP_0000855 denotes insulin resistance
T2 646-666 HP_0000956 denotes acanthosis nigricans
T3 1050-1059 HP_0001007 denotes hirsutism
T4 1276-1292 HP_0000121 denotes Nephrocalcinosis
T5 1294-1312 HP_0000859 denotes hyperaldosteronism
T6 1314-1328 HP_0000848 denotes hyperreninemia
T7 1334-1345 HP_0002900 denotes hypokalemia
T8 1365-1377 HP_0000822 denotes hypertension
T9 1504-1537 HP_0011741 denotes hyperreninemic hyperaldosteronism
T10 1519-1537 HP_0000859 denotes hyperaldosteronism
T11 1592-1611 HP_0012210 denotes renal abnormalities
T12 1592-1611 HP_0000077 denotes renal abnormalities

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
23824322-1#10#26#gene3643 160-176 gene3643 denotes insulin receptor
23824322-1#28#32#gene3643 178-182 gene3643 denotes INSR
23824322-1#120#136#diseaseC0265344 270-286 diseaseC0265344 denotes Donohue syndrome
23824322-1#146#172#diseaseC0271695 296-322 diseaseC0271695 denotes Rabson-Mendenhall syndrome
23824322-1#174#177#diseaseC0271695 324-327 diseaseC0271695 denotes RMS
23824322-1#120#136#diseaseC0265344 270-286 diseaseC0265344 denotes Donohue syndrome
23824322-1#138#140#diseaseC0265344 288-290 diseaseC0265344 denotes DS
23824322-1#146#172#diseaseC0271695 296-322 diseaseC0271695 denotes Rabson-Mendenhall syndrome
23824322-1#174#177#diseaseC0271695 324-327 diseaseC0271695 denotes RMS
23824322-3#0#4#gene3643 549-553 gene3643 denotes INSR
23824322-3#58#73#diseaseC0020459 607-622 diseaseC0020459 denotes hyperinsulinism
23824322-3#97#117#diseaseC0000889 646-666 diseaseC0000889 denotes acanthosis nigricans
10#26#gene3643120#136#diseaseC0265344 23824322-1#10#26#gene3643 23824322-1#120#136#diseaseC0265344 associated_with insulin receptor,Donohue syndrome
10#26#gene3643146#172#diseaseC0271695 23824322-1#10#26#gene3643 23824322-1#146#172#diseaseC0271695 associated_with insulin receptor,Rabson-Mendenhall syndrome
10#26#gene3643174#177#diseaseC0271695 23824322-1#10#26#gene3643 23824322-1#174#177#diseaseC0271695 associated_with insulin receptor,RMS
10#26#gene3643120#136#diseaseC0265344 23824322-1#10#26#gene3643 23824322-1#120#136#diseaseC0265344 associated_with insulin receptor,Donohue syndrome
10#26#gene3643138#140#diseaseC0265344 23824322-1#10#26#gene3643 23824322-1#138#140#diseaseC0265344 associated_with insulin receptor,DS
10#26#gene3643146#172#diseaseC0271695 23824322-1#10#26#gene3643 23824322-1#146#172#diseaseC0271695 associated_with insulin receptor,Rabson-Mendenhall syndrome
10#26#gene3643174#177#diseaseC0271695 23824322-1#10#26#gene3643 23824322-1#174#177#diseaseC0271695 associated_with insulin receptor,RMS
28#32#gene3643120#136#diseaseC0265344 23824322-1#28#32#gene3643 23824322-1#120#136#diseaseC0265344 associated_with INSR,Donohue syndrome
28#32#gene3643146#172#diseaseC0271695 23824322-1#28#32#gene3643 23824322-1#146#172#diseaseC0271695 associated_with INSR,Rabson-Mendenhall syndrome
28#32#gene3643174#177#diseaseC0271695 23824322-1#28#32#gene3643 23824322-1#174#177#diseaseC0271695 associated_with INSR,RMS
28#32#gene3643120#136#diseaseC0265344 23824322-1#28#32#gene3643 23824322-1#120#136#diseaseC0265344 associated_with INSR,Donohue syndrome
28#32#gene3643138#140#diseaseC0265344 23824322-1#28#32#gene3643 23824322-1#138#140#diseaseC0265344 associated_with INSR,DS
28#32#gene3643146#172#diseaseC0271695 23824322-1#28#32#gene3643 23824322-1#146#172#diseaseC0271695 associated_with INSR,Rabson-Mendenhall syndrome
28#32#gene3643174#177#diseaseC0271695 23824322-1#28#32#gene3643 23824322-1#174#177#diseaseC0271695 associated_with INSR,RMS
0#4#gene364358#73#diseaseC0020459 23824322-3#0#4#gene3643 23824322-3#58#73#diseaseC0020459 associated_with INSR,hyperinsulinism
0#4#gene364397#117#diseaseC0000889 23824322-3#0#4#gene3643 23824322-3#97#117#diseaseC0000889 associated_with INSR,acanthosis nigricans

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 22-40 HP:0000855 denotes insulin resistance
AB1 236-254 HP:0000855 denotes insulin resistance
AB2 646-666 HP:0000956 denotes acanthosis nigricans
AB3 1050-1059 HP:0001007 denotes hirsutism
AB4 1276-1292 HP:0000121 denotes Nephrocalcinosis
AB5 1294-1312 HP:0000859 denotes hyperaldosteronism
AB6 1334-1345 HP:0002900 denotes hypokalemia
AB7 1365-1377 HP:0000822 denotes hypertension
AB8 1519-1537 HP:0000859 denotes hyperaldosteronism

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 270-286 ORDO:508 denotes Donohue syndrome
AB2 296-322 ORDO:769 denotes Rabson-Mendenhall syndrome
AB3 324-327 ORDO:93307 denotes RMS
AB4 354-357 ORDO:93307 denotes RMS
AB5 524-527 ORDO:93307 denotes RMS
AB6 1189-1192 ORDO:93307 denotes RMS