| Id |
Subject |
Object |
Predicate |
Lexical cue |
db_id |
| 8363 |
21-57 |
DiseaseOrPhenotypicFeature |
denotes |
congenital generalized lipodystrophy |
MESH:D052497 |
| 8364 |
79-87 |
SequenceVariant |
denotes |
Ile262fs |
p|FS|I|262|| |
| 8365 |
104-109 |
GeneOrGeneProduct |
denotes |
BSCL2 |
NCBIGene:26580 |
| 8366 |
116-152 |
DiseaseOrPhenotypicFeature |
denotes |
Congenital generalized lipodystrophy |
MESH:D052497 |
| 8367 |
154-157 |
DiseaseOrPhenotypicFeature |
denotes |
CGL |
MESH:D052497 |
| 8368 |
169-196 |
DiseaseOrPhenotypicFeature |
denotes |
autosomal recessive disease |
MESH:D030342 |
| 8369 |
310-315 |
GeneOrGeneProduct |
denotes |
BSCL2 |
NCBIGene:26580 |
| 8370 |
344-348 |
DiseaseOrPhenotypicFeature |
denotes |
CGL2 |
MESH:D052497 |
| 8371 |
379-383 |
DiseaseOrPhenotypicFeature |
denotes |
CGL1 |
MESH:D052497 |
| 8372 |
466-489 |
DiseaseOrPhenotypicFeature |
denotes |
intellectual impairment |
MESH:D008607 |
| 8373 |
507-521 |
DiseaseOrPhenotypicFeature |
denotes |
cardiomyopathy |
MESH:D009202 |
| 8374 |
653-671 |
DiseaseOrPhenotypicFeature |
denotes |
eruptive xanthomas |
MESH:D014973 |
| 8375 |
685-705 |
DiseaseOrPhenotypicFeature |
denotes |
hypertriglyceridemia |
MESH:D015228 |
| 8376 |
817-829 |
DiseaseOrPhenotypicFeature |
denotes |
Hepatomegaly |
MESH:D006529 |
| 8377 |
916-933 |
DiseaseOrPhenotypicFeature |
denotes |
hepatic steatosis |
MESH:D005234 |
| 8378 |
949-957 |
DiseaseOrPhenotypicFeature |
denotes |
necrosis |
MESH:D009336 |
| 8379 |
1006-1020 |
DiseaseOrPhenotypicFeature |
denotes |
cardiomyopathy |
MESH:D009202 |
| 8380 |
1047-1070 |
DiseaseOrPhenotypicFeature |
denotes |
intellectual impairment |
MESH:D008607 |
| 8381 |
1163-1185 |
DiseaseOrPhenotypicFeature |
denotes |
enlargement of kidneys |
MESH:D007674 |
| 8382 |
1234-1241 |
SequenceVariant |
denotes |
783insG |
c|INS|783|G |
| 8383 |
1243-1251 |
SequenceVariant |
denotes |
Ile262fs |
p|FS|I|262|| |
| 8384 |
1280-1285 |
GeneOrGeneProduct |
denotes |
BSCL2 |
NCBIGene:26580 |
| 8385 |
1320-1323 |
DiseaseOrPhenotypicFeature |
denotes |
CGL |
MESH:D052497 |
| 8386 |
1382-1387 |
GeneOrGeneProduct |
denotes |
BSCL2 |
NCBIGene:26580 |
| 8387 |
1418-1421 |
DiseaseOrPhenotypicFeature |
denotes |
CGL |
MESH:D052497 |
