| 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 |
