> top > docs > PubMed:17059986 > annotations

PubMed:17059986 JSONTXT

Annnotations TAB JSON ListView MergeView

PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
17059986_0 708-752 ProteinMutation denotes serine by leucine at amino acid position 555 rs148038173
17059986_1 754-765 ProteinMutation denotes p.Ser555Leu rs148038173

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-112 Sentence denotes A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.
T2 113-401 Sentence denotes We report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, metabolic alkalosis, hypomagnesemia and hypokalemia with inappropriate kaliuresis, and idiopathic intracranial hypertension with bilateral papilledema (pseudotumor cerebri).
T3 402-500 Sentence denotes The patient, her twin sister, and her mother also presented with cerebral cavernous malformations.
T4 501-583 Sentence denotes Based on the early onset and normocalciuria, Bartter syndrome was diagnosed first.
T5 584-900 Sentence denotes However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G>C), providing the molecular diagnosis of GS.
T6 901-996 Sentence denotes These mutations were not detected in 200 normal chromosomes and cosegregated within the family.
T7 997-1199 Sentence denotes Analysis of complementary DNA showed that the heterozygous nucleotide change c.2633+1G>C caused the appearance of 2 RNA molecules, 1 normal transcript and 1 skipping the entire exon 22 (r.2521_2634del).
T8 1200-1334 Sentence denotes Supplementation with potassium and magnesium improved clinical symptoms and resulted in catch-up growth, but vision remained impaired.
T9 1335-1566 Sentence denotes Three similar associations of Bartter syndrome/GS with pseudotumor cerebri were found in the literature, suggesting that electrolyte abnormalities and secondary aldosteronism may have a role in idiopathic intracranial hypertension.
T10 1567-1704 Sentence denotes This study provides further evidence for the phenotypical heterogeneity of GS and its association with severe manifestations in children.
T11 1705-1781 Sentence denotes It also shows the independent segregation of familial cavernomatosis and GS.

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
3530 29-36 GeneOrGeneProduct denotes SLC12A3 NCBIGene:6559
3531 53-70 DiseaseOrPhenotypicFeature denotes Gitelman syndrome MESH:D053579
3532 75-111 DiseaseOrPhenotypicFeature denotes idiopathic intracranial hypertension MESH:D011559
3533 133-150 DiseaseOrPhenotypicFeature denotes Gitelman syndrome MESH:D053579
3534 152-154 DiseaseOrPhenotypicFeature denotes GS MESH:D053579
3535 214-226 DiseaseOrPhenotypicFeature denotes growth delay MESH:D006130
3536 228-247 DiseaseOrPhenotypicFeature denotes metabolic alkalosis MESH:D000471
3537 249-263 DiseaseOrPhenotypicFeature denotes hypomagnesemia MESH:C537153
3538 268-279 DiseaseOrPhenotypicFeature denotes hypokalemia MESH:D007008
3539 315-351 DiseaseOrPhenotypicFeature denotes idiopathic intracranial hypertension MESH:D011559
3540 357-378 DiseaseOrPhenotypicFeature denotes bilateral papilledema MESH:D010211
3541 380-399 DiseaseOrPhenotypicFeature denotes pseudotumor cerebri MESH:D011559
3542 406-413 OrganismTaxon denotes patient NCBITaxon:9606
3543 467-499 DiseaseOrPhenotypicFeature denotes cerebral cavernous malformations MESH:D002543
3544 546-562 DiseaseOrPhenotypicFeature denotes Bartter syndrome MESH:D001477
3545 681-688 GeneOrGeneProduct denotes SLC12A3 NCBIGene:6559
3546 708-752 SequenceVariant denotes serine by leucine at amino acid position 555 DBSNP:rs148038173
3547 754-765 SequenceVariant denotes p.Ser555Leu DBSNP:rs148038173
3548 779-798 SequenceVariant denotes guanine to cytosine c|SUB|G||C
3549 846-857 SequenceVariant denotes c.2633+1G>C c|SUB|G|2633+1|C
3550 897-899 DiseaseOrPhenotypicFeature denotes GS MESH:D053579
3551 1074-1085 SequenceVariant denotes c.2633+1G>C c|SUB|G|2633+1|C
3552 1183-1197 SequenceVariant denotes r.2521_2634del r|DEL|2521_2634|
3553 1221-1230 ChemicalEntity denotes potassium MESH:D011188
3554 1235-1244 ChemicalEntity denotes magnesium MESH:D008274
3555 1365-1381 DiseaseOrPhenotypicFeature denotes Bartter syndrome MESH:D001477
3556 1382-1384 DiseaseOrPhenotypicFeature denotes GS MESH:D053579
3557 1390-1409 DiseaseOrPhenotypicFeature denotes pseudotumor cerebri MESH:D011559
3558 1456-1481 DiseaseOrPhenotypicFeature denotes electrolyte abnormalities MESH:D014883
3559 1486-1509 DiseaseOrPhenotypicFeature denotes secondary aldosteronism MESH:D001477
3560 1529-1565 DiseaseOrPhenotypicFeature denotes idiopathic intracranial hypertension MESH:D011559
3561 1642-1644 DiseaseOrPhenotypicFeature denotes GS MESH:D053579
3562 1750-1773 DiseaseOrPhenotypicFeature denotes familial cavernomatosis MESH:D006392
3563 1778-1780 DiseaseOrPhenotypicFeature denotes GS MESH:D053579

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 53-70 DiseaseOrPhenotypicFeature denotes Gitelman syndrome 0009904
T2 75-85 DiseaseOrPhenotypicFeature denotes idiopathic 0700005
T3 86-111 DiseaseOrPhenotypicFeature denotes intracranial hypertension 0006810
T4 133-150 DiseaseOrPhenotypicFeature denotes Gitelman syndrome 0009904
T5 315-325 DiseaseOrPhenotypicFeature denotes idiopathic 0700005
T6 326-351 DiseaseOrPhenotypicFeature denotes intracranial hypertension 0006810
T7 367-378 DiseaseOrPhenotypicFeature denotes papilledema 0002003
T8 380-399 DiseaseOrPhenotypicFeature denotes pseudotumor cerebri 0009468
T9 467-499 DiseaseOrPhenotypicFeature denotes cerebral cavernous malformations 0000820
T10 546-562 DiseaseOrPhenotypicFeature denotes Bartter syndrome 0015231
T11 1365-1381 DiseaseOrPhenotypicFeature denotes Bartter syndrome 0015231
T12 1390-1409 DiseaseOrPhenotypicFeature denotes pseudotumor cerebri 0009468
T13 1529-1539 DiseaseOrPhenotypicFeature denotes idiopathic 0700005
T14 1540-1565 DiseaseOrPhenotypicFeature denotes intracranial hypertension 0006810

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 754-765 SequenceVariant denotes p.Ser555Leu
T2 846-857 SequenceVariant denotes c.2633+1G>C
T3 1074-1085 SequenceVariant denotes c.2633+1G>C
T4 1183-1197 SequenceVariant denotes r.2521_2634del

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 2-7 GeneOrGeneProduct denotes novel
T2 29-36 GeneOrGeneProduct denotes SLC12A3
T3 62-70 GeneOrGeneProduct denotes syndrome
T4 99-111 GeneOrGeneProduct denotes hypertension
T5 142-150 GeneOrGeneProduct denotes syndrome
T6 171-175 GeneOrGeneProduct denotes twin
T7 214-220 GeneOrGeneProduct denotes growth
T8 339-351 GeneOrGeneProduct denotes hypertension
T9 419-423 GeneOrGeneProduct denotes twin
T10 514-519 GeneOrGeneProduct denotes early
T11 554-562 GeneOrGeneProduct denotes syndrome
T12 681-688 GeneOrGeneProduct denotes SLC12A3
T13 729-739 GeneOrGeneProduct denotes amino acid
T14 773-778 GeneOrGeneProduct denotes novel
T15 1137-1147 GeneOrGeneProduct denotes transcript
T16 1148-1153 GeneOrGeneProduct denotes and 1
T17 1297-1303 GeneOrGeneProduct denotes growth
T18 1341-1348 GeneOrGeneProduct denotes similar
T19 1373-1381 GeneOrGeneProduct denotes syndrome
T20 1553-1565 GeneOrGeneProduct denotes hypertension

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 2-7 GeneOrGeneProduct denotes novel
T2 8-16 GeneOrGeneProduct denotes splicing
T3 17-25 GeneOrGeneProduct denotes mutation
T4 29-36 GeneOrGeneProduct denotes SLC12A3
T5 62-70 GeneOrGeneProduct denotes syndrome
T6 99-111 GeneOrGeneProduct denotes hypertension
T7 125-129 GeneOrGeneProduct denotes case
T8 142-150 GeneOrGeneProduct denotes syndrome
T9 152-154 GeneOrGeneProduct denotes GS
T10 156-160 GeneOrGeneProduct denotes in a
T11 171-175 GeneOrGeneProduct denotes twin
T12 196-201 GeneOrGeneProduct denotes years
T13 214-220 GeneOrGeneProduct denotes growth
T14 339-351 GeneOrGeneProduct denotes hypertension
T15 419-423 GeneOrGeneProduct denotes twin
T16 486-499 GeneOrGeneProduct denotes malformations
T17 501-506 GeneOrGeneProduct denotes Based
T18 514-519 GeneOrGeneProduct denotes early
T19 554-562 GeneOrGeneProduct denotes syndrome
T20 593-601 GeneOrGeneProduct denotes mutation
T21 668-677 GeneOrGeneProduct denotes mutations
T22 681-688 GeneOrGeneProduct denotes SLC12A3
T23 729-739 GeneOrGeneProduct denotes amino acid
T24 773-778 GeneOrGeneProduct denotes novel
T25 820-826 GeneOrGeneProduct denotes splice
T26 897-899 GeneOrGeneProduct denotes GS
T27 907-916 GeneOrGeneProduct denotes mutations
T28 1137-1147 GeneOrGeneProduct denotes transcript
T29 1148-1153 GeneOrGeneProduct denotes and 1
T30 1154-1162 GeneOrGeneProduct denotes skipping
T31 1167-1173 GeneOrGeneProduct denotes entire
T32 1297-1303 GeneOrGeneProduct denotes growth
T33 1341-1348 GeneOrGeneProduct denotes similar
T34 1373-1381 GeneOrGeneProduct denotes syndrome
T35 1382-1384 GeneOrGeneProduct denotes GS
T36 1553-1565 GeneOrGeneProduct denotes hypertension
T37 1642-1644 GeneOrGeneProduct denotes GS
T38 1778-1780 GeneOrGeneProduct denotes GS

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 53-70 DiseaseOrPhenotypicFeature denotes Gitelman syndrome D053579
T2 75-111 DiseaseOrPhenotypicFeature denotes idiopathic intracranial hypertension D011559
T3 133-150 DiseaseOrPhenotypicFeature denotes Gitelman syndrome D053579
T4 152-154 DiseaseOrPhenotypicFeature denotes GS D053579
T5 238-247 DiseaseOrPhenotypicFeature denotes alkalosis D000471
T6 268-279 DiseaseOrPhenotypicFeature denotes hypokalemia D007008
T7 315-351 DiseaseOrPhenotypicFeature denotes idiopathic intracranial hypertension D011559
T8 367-378 DiseaseOrPhenotypicFeature denotes papilledema D010211
T9 380-399 DiseaseOrPhenotypicFeature denotes pseudotumor cerebri D011559
T10 467-499 DiseaseOrPhenotypicFeature denotes cerebral cavernous malformations D020786
T11 546-562 DiseaseOrPhenotypicFeature denotes Bartter syndrome D001477
T12 897-899 DiseaseOrPhenotypicFeature denotes GS D053579
T13 1365-1381 DiseaseOrPhenotypicFeature denotes Bartter syndrome D001477
T14 1382-1384 DiseaseOrPhenotypicFeature denotes GS D053579
T15 1390-1409 DiseaseOrPhenotypicFeature denotes pseudotumor cerebri D011559
T16 1496-1509 DiseaseOrPhenotypicFeature denotes aldosteronism D006929
T17 1529-1565 DiseaseOrPhenotypicFeature denotes idiopathic intracranial hypertension D011559
T18 1642-1644 DiseaseOrPhenotypicFeature denotes GS D053579
T19 1778-1780 DiseaseOrPhenotypicFeature denotes GS D053579

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 29-36 GeneOrGeneProduct denotes SLC12A3
T2 681-688 GeneOrGeneProduct denotes SLC12A3
T3 1137-1153 GeneOrGeneProduct denotes transcript and 1

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 53-70 DiseaseOrPhenotypicFeature denotes Gitelman syndrome 0009904
T2 75-111 DiseaseOrPhenotypicFeature denotes idiopathic intracranial hypertension 0009468
T3 133-150 DiseaseOrPhenotypicFeature denotes Gitelman syndrome 0009904
T4 152-154 DiseaseOrPhenotypicFeature denotes GS 0005773|0009904
T6 249-263 DiseaseOrPhenotypicFeature denotes hypomagnesemia 0018100
T7 268-279 DiseaseOrPhenotypicFeature denotes hypokalemia 0003019
T8 315-351 DiseaseOrPhenotypicFeature denotes idiopathic intracranial hypertension 0009468
T9 367-378 DiseaseOrPhenotypicFeature denotes papilledema 0002003
T10 380-399 DiseaseOrPhenotypicFeature denotes pseudotumor cerebri 0009468
T11 467-499 DiseaseOrPhenotypicFeature denotes cerebral cavernous malformations 0031037|0020724
T13 546-562 DiseaseOrPhenotypicFeature denotes Bartter syndrome 0015231
T14 897-899 DiseaseOrPhenotypicFeature denotes GS 0005773|0009904
T16 1365-1381 DiseaseOrPhenotypicFeature denotes Bartter syndrome 0015231
T17 1382-1384 DiseaseOrPhenotypicFeature denotes GS 0005773|0009904
T19 1390-1409 DiseaseOrPhenotypicFeature denotes pseudotumor cerebri 0009468
T20 1529-1565 DiseaseOrPhenotypicFeature denotes idiopathic intracranial hypertension 0009468
T21 1642-1644 DiseaseOrPhenotypicFeature denotes GS 0005773|0009904
T23 1778-1780 DiseaseOrPhenotypicFeature denotes GS 0005773|0009904

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 53-70 DiseaseOrPhenotypicFeature denotes Gitelman syndrome D053579
T2 75-111 DiseaseOrPhenotypicFeature denotes idiopathic intracranial hypertension D011559
T3 133-150 DiseaseOrPhenotypicFeature denotes Gitelman syndrome D053579
T4 152-154 DiseaseOrPhenotypicFeature denotes GS D053579
T5 214-226 DiseaseOrPhenotypicFeature denotes growth delay DISEASE
T6 238-247 DiseaseOrPhenotypicFeature denotes alkalosis D000471
T7 249-263 DiseaseOrPhenotypicFeature denotes hypomagnesemia DISEASE
T8 268-279 DiseaseOrPhenotypicFeature denotes hypokalemia D007008
T9 315-351 DiseaseOrPhenotypicFeature denotes idiopathic intracranial hypertension D011559
T10 367-378 DiseaseOrPhenotypicFeature denotes papilledema D010211
T11 380-399 DiseaseOrPhenotypicFeature denotes pseudotumor cerebri D011559
T12 467-499 DiseaseOrPhenotypicFeature denotes cerebral cavernous malformations D020786
T13 546-562 DiseaseOrPhenotypicFeature denotes Bartter syndrome D001477
T14 897-899 DiseaseOrPhenotypicFeature denotes GS D053579
T15 1365-1381 DiseaseOrPhenotypicFeature denotes Bartter syndrome D001477
T16 1382-1384 DiseaseOrPhenotypicFeature denotes GS D053579
T17 1390-1409 DiseaseOrPhenotypicFeature denotes pseudotumor cerebri D011559
T18 1456-1481 DiseaseOrPhenotypicFeature denotes electrolyte abnormalities DISEASE
T19 1496-1509 DiseaseOrPhenotypicFeature denotes aldosteronism D006929
T20 1529-1565 DiseaseOrPhenotypicFeature denotes idiopathic intracranial hypertension D011559
T21 1642-1644 DiseaseOrPhenotypicFeature denotes GS D053579
T22 1750-1773 DiseaseOrPhenotypicFeature denotes familial cavernomatosis DISEASE
T23 1778-1780 DiseaseOrPhenotypicFeature denotes GS D053579

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 53-70 DiseaseOrPhenotypicFeature denotes Gitelman syndrome D053579
T2 75-111 DiseaseOrPhenotypicFeature denotes idiopathic intracranial hypertension D011559
T3 133-150 DiseaseOrPhenotypicFeature denotes Gitelman syndrome D053579
T4 152-154 DiseaseOrPhenotypicFeature denotes GS D053579
T5 214-226 DiseaseOrPhenotypicFeature denotes growth delay DISEASE
T6 238-247 DiseaseOrPhenotypicFeature denotes alkalosis D000471
T7 249-263 DiseaseOrPhenotypicFeature denotes hypomagnesemia DISEASE
T8 268-279 DiseaseOrPhenotypicFeature denotes hypokalemia D007008
T9 315-351 DiseaseOrPhenotypicFeature denotes idiopathic intracranial hypertension D011559
T10 367-378 DiseaseOrPhenotypicFeature denotes papilledema D010211
T11 380-399 DiseaseOrPhenotypicFeature denotes pseudotumor cerebri D011559
T12 467-499 DiseaseOrPhenotypicFeature denotes cerebral cavernous malformations D020786
T13 546-562 DiseaseOrPhenotypicFeature denotes Bartter syndrome D001477
T14 897-899 DiseaseOrPhenotypicFeature denotes GS D053579
T15 1365-1381 DiseaseOrPhenotypicFeature denotes Bartter syndrome D001477
T16 1382-1384 DiseaseOrPhenotypicFeature denotes GS D053579
T17 1390-1409 DiseaseOrPhenotypicFeature denotes pseudotumor cerebri D011559
T18 1456-1481 DiseaseOrPhenotypicFeature denotes electrolyte abnormalities DISEASE
T19 1496-1509 DiseaseOrPhenotypicFeature denotes aldosteronism D006929
T20 1529-1565 DiseaseOrPhenotypicFeature denotes idiopathic intracranial hypertension D011559
T21 1642-1644 DiseaseOrPhenotypicFeature denotes GS D053579
T22 1750-1773 DiseaseOrPhenotypicFeature denotes familial cavernomatosis DISEASE
T23 1778-1780 DiseaseOrPhenotypicFeature denotes GS D053579

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 708-714 ChemicalEntity denotes serine http://purl.obolibrary.org/obo/CHEBI_17822
T2 718-725 ChemicalEntity denotes leucine http://purl.obolibrary.org/obo/CHEBI_25017
T3 779-786 ChemicalEntity denotes guanine D006147|http://purl.obolibrary.org/obo/CHEBI_16235
T5 790-798 ChemicalEntity denotes cytosine D003596|http://purl.obolibrary.org/obo/CHEBI_16040
T7 1221-1230 ChemicalEntity denotes potassium D011188|http://purl.obolibrary.org/obo/CHEBI_26216
T9 1235-1244 ChemicalEntity denotes magnesium D008274|http://purl.obolibrary.org/obo/CHEBI_25107
T11 1456-1467 ChemicalEntity denotes electrolyte D004573

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 406-413 OrganismTaxon denotes patient

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T11 1456-1467 ChemicalEntity denotes electrolyte D004573
T9 1235-1244 ChemicalEntity denotes magnesium http://purl.obolibrary.org/obo/CHEBI_25107|D008274
T7 1221-1230 ChemicalEntity denotes potassium http://purl.obolibrary.org/obo/CHEBI_26216|D011188
T5 790-798 ChemicalEntity denotes cytosine http://purl.obolibrary.org/obo/CHEBI_16040|D003596
T3 779-786 ChemicalEntity denotes guanine http://purl.obolibrary.org/obo/CHEBI_16235|D006147
T2 718-725 ChemicalEntity denotes leucine http://purl.obolibrary.org/obo/CHEBI_25017
T1 708-714 ChemicalEntity denotes serine http://purl.obolibrary.org/obo/CHEBI_17822
T69662 1137-1153 GeneOrGeneProduct denotes transcript and 1
T36179 681-688 GeneOrGeneProduct denotes SLC12A3
T21958 29-36 GeneOrGeneProduct denotes SLC12A3
T23 1778-1780 DiseaseOrPhenotypicFeature denotes GS D053579
T22 1750-1773 DiseaseOrPhenotypicFeature denotes familial cavernomatosis DISEASE
T21 1642-1644 DiseaseOrPhenotypicFeature denotes GS D053579
T20 1529-1565 DiseaseOrPhenotypicFeature denotes idiopathic intracranial hypertension D011559
T19 1496-1509 DiseaseOrPhenotypicFeature denotes aldosteronism D006929
T18 1456-1481 DiseaseOrPhenotypicFeature denotes electrolyte abnormalities DISEASE
T17 1390-1409 DiseaseOrPhenotypicFeature denotes pseudotumor cerebri D011559
T16 1382-1384 DiseaseOrPhenotypicFeature denotes GS D053579
T15 1365-1381 DiseaseOrPhenotypicFeature denotes Bartter syndrome D001477
T14 897-899 DiseaseOrPhenotypicFeature denotes GS D053579
T13 546-562 DiseaseOrPhenotypicFeature denotes Bartter syndrome D001477
T12 467-499 DiseaseOrPhenotypicFeature denotes cerebral cavernous malformations D020786
T88835 380-399 DiseaseOrPhenotypicFeature denotes pseudotumor cerebri D011559
T10 367-378 DiseaseOrPhenotypicFeature denotes papilledema D010211
T89121 315-351 DiseaseOrPhenotypicFeature denotes idiopathic intracranial hypertension D011559
T8 268-279 DiseaseOrPhenotypicFeature denotes hypokalemia D007008
T53492 249-263 DiseaseOrPhenotypicFeature denotes hypomagnesemia DISEASE
T6 238-247 DiseaseOrPhenotypicFeature denotes alkalosis D000471
T41383 214-226 DiseaseOrPhenotypicFeature denotes growth delay DISEASE
T4 152-154 DiseaseOrPhenotypicFeature denotes GS D053579
T75669 133-150 DiseaseOrPhenotypicFeature denotes Gitelman syndrome D053579
T63087 75-111 DiseaseOrPhenotypicFeature denotes idiopathic intracranial hypertension D011559
T73539 53-70 DiseaseOrPhenotypicFeature denotes Gitelman syndrome D053579
T79897 406-413 OrganismTaxon denotes patient
T81029 1183-1197 SequenceVariant denotes r.2521_2634del
T71586 1074-1085 SequenceVariant denotes c.2633+1G>C
T33809 846-857 SequenceVariant denotes c.2633+1G>C
T51166 754-765 SequenceVariant denotes p.Ser555Leu

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-112 Sentence denotes A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.
TextSentencer_T2 113-401 Sentence denotes We report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, metabolic alkalosis, hypomagnesemia and hypokalemia with inappropriate kaliuresis, and idiopathic intracranial hypertension with bilateral papilledema (pseudotumor cerebri).
TextSentencer_T3 402-500 Sentence denotes The patient, her twin sister, and her mother also presented with cerebral cavernous malformations.
TextSentencer_T4 501-583 Sentence denotes Based on the early onset and normocalciuria, Bartter syndrome was diagnosed first.
TextSentencer_T5 584-900 Sentence denotes However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G>C), providing the molecular diagnosis of GS.
TextSentencer_T6 901-996 Sentence denotes These mutations were not detected in 200 normal chromosomes and cosegregated within the family.
TextSentencer_T7 997-1199 Sentence denotes Analysis of complementary DNA showed that the heterozygous nucleotide change c.2633+1G>C caused the appearance of 2 RNA molecules, 1 normal transcript and 1 skipping the entire exon 22 (r.2521_2634del).
TextSentencer_T8 1200-1334 Sentence denotes Supplementation with potassium and magnesium improved clinical symptoms and resulted in catch-up growth, but vision remained impaired.
TextSentencer_T9 1335-1566 Sentence denotes Three similar associations of Bartter syndrome/GS with pseudotumor cerebri were found in the literature, suggesting that electrolyte abnormalities and secondary aldosteronism may have a role in idiopathic intracranial hypertension.
TextSentencer_T10 1567-1704 Sentence denotes This study provides further evidence for the phenotypical heterogeneity of GS and its association with severe manifestations in children.
TextSentencer_T11 1705-1781 Sentence denotes It also shows the independent segregation of familial cavernomatosis and GS.
T1 0-112 Sentence denotes A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.
T2 113-401 Sentence denotes We report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, metabolic alkalosis, hypomagnesemia and hypokalemia with inappropriate kaliuresis, and idiopathic intracranial hypertension with bilateral papilledema (pseudotumor cerebri).
T3 402-500 Sentence denotes The patient, her twin sister, and her mother also presented with cerebral cavernous malformations.
T4 501-583 Sentence denotes Based on the early onset and normocalciuria, Bartter syndrome was diagnosed first.
T5 584-900 Sentence denotes However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G>C), providing the molecular diagnosis of GS.
T6 901-996 Sentence denotes These mutations were not detected in 200 normal chromosomes and cosegregated within the family.
T7 997-1199 Sentence denotes Analysis of complementary DNA showed that the heterozygous nucleotide change c.2633+1G>C caused the appearance of 2 RNA molecules, 1 normal transcript and 1 skipping the entire exon 22 (r.2521_2634del).
T8 1200-1334 Sentence denotes Supplementation with potassium and magnesium improved clinical symptoms and resulted in catch-up growth, but vision remained impaired.
T9 1335-1566 Sentence denotes Three similar associations of Bartter syndrome/GS with pseudotumor cerebri were found in the literature, suggesting that electrolyte abnormalities and secondary aldosteronism may have a role in idiopathic intracranial hypertension.
T10 1567-1704 Sentence denotes This study provides further evidence for the phenotypical heterogeneity of GS and its association with severe manifestations in children.
T11 1705-1781 Sentence denotes It also shows the independent segregation of familial cavernomatosis and GS.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 29-36 gene:6559 denotes SLC12A3
T1 53-70 disease:C0268450 denotes Gitelman syndrome
T2 29-36 gene:6559 denotes SLC12A3
T3 75-111 disease:C0033845 denotes idiopathic intracranial hypertension
R1 T0 T1 associated_with SLC12A3,Gitelman syndrome
R2 T2 T3 associated_with SLC12A3,idiopathic intracranial hypertension

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 214-226 HP_0001510 denotes growth delay
T2 228-247 HP_0200114 denotes metabolic alkalosis
T3 238-247 HP_0001948 denotes alkalosis
T4 249-263 HP_0002917 denotes hypomagnesemia
T5 268-279 HP_0002900 denotes hypokalemia
T6 326-351 HP_0002516 denotes intracranial hypertension
T7 339-351 HP_0000822 denotes hypertension
T8 367-378 HP_0001085 denotes papilledema
T9 1540-1565 HP_0002516 denotes intracranial hypertension
T10 1553-1565 HP_0000822 denotes hypertension

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
17059986-4#170#181#geners148038173 754-765 geners148038173 denotes p.Ser555Leu
17059986-4#313#315#diseaseC0268450 897-899 diseaseC0268450 denotes GS
170#181#geners148038173313#315#diseaseC0268450 17059986-4#170#181#geners148038173 17059986-4#313#315#diseaseC0268450 associated_with p.Ser555Leu,GS

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
17059986-0#29#36#gene6559 29-36 gene6559 denotes SLC12A3
17059986-0#53#70#diseaseC0268450 53-70 diseaseC0268450 denotes Gitelman syndrome
17059986-0#75#111#diseaseC0033845 75-111 diseaseC0033845 denotes idiopathic intracranial hypertension
29#36#gene655953#70#diseaseC0268450 17059986-0#29#36#gene6559 17059986-0#53#70#diseaseC0268450 associated_with SLC12A3,Gitelman syndrome
29#36#gene655975#111#diseaseC0033845 17059986-0#29#36#gene6559 17059986-0#75#111#diseaseC0033845 associated_with SLC12A3,idiopathic intracranial hypertension

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 99-111 HP:0000822 denotes hypertension
AB1 214-226 HP:0001510 denotes growth delay
AB2 228-247 HP:0200114 denotes metabolic alkalosis
AB3 249-263 HP:0002917 denotes hypomagnesemia
AB4 268-279 HP:0002900 denotes hypokalemia
AB5 339-351 HP:0000822 denotes hypertension
AB6 367-378 HP:0001085 denotes papilledema
AB7 1553-1565 HP:0000822 denotes hypertension

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 133-150 ORDO:358 denotes Gitelman syndrome
TI1 53-70 ORDO:358 denotes Gitelman syndrome
TI2 75-111 ORDO:238624 denotes idiopathic intracranial hypertension
AB2 315-351 ORDO:238624 denotes idiopathic intracranial hypertension
AB3 380-399 ORDO:238624 denotes pseudotumor cerebri
AB4 546-562 ORDO:112 denotes Bartter syndrome
AB5 1365-1381 ORDO:112 denotes Bartter syndrome
AB6 1390-1409 ORDO:238624 denotes pseudotumor cerebri
AB7 1529-1565 ORDO:238624 denotes idiopathic intracranial hypertension

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 754-765 ProteinMutation:p|SUB|S|555|L denotes p.Ser555Leu
T2 846-857 DNAMutation:c|SUB|G|2633+1|C denotes c.2633+1G>C
T3 1074-1085 DNAMutation:c|SUB|G|2633+1|C denotes c.2633+1G>C
T4 1183-1197 DNAMutation:r|DEL|2521_2634| denotes r.2521_2634del