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