PubMed:21219851 JSONTXT 28 Projects

Annnotations TAB TSV DIC JSON TextAE

Id Subject Object Predicate Lexical cue db_id
8481 38-75 DiseaseOrPhenotypicFeature denotes Ehlers-Danlos Syndrome, vascular type MESH:D004535
8482 183-220 DiseaseOrPhenotypicFeature denotes Ehlers-Danlos syndrome, vascular type MESH:D004535
8483 222-226 DiseaseOrPhenotypicFeature denotes vEDS MESH:D004535
8484 229-240 DiseaseOrPhenotypicFeature denotes MIM #130050 MESH:D004535
8485 248-275 DiseaseOrPhenotypicFeature denotes autosomal dominant disorder MESH:D030342
8486 286-306 GeneOrGeneProduct denotes type III procollagen NCBIGene:1281
8487 313-319 GeneOrGeneProduct denotes COL3A1 NCBIGene:1281
8488 337-343 GeneOrGeneProduct denotes COL3A1 NCBIGene:1281
8489 391-398 OrganismTaxon denotes patient NCBITaxon:9606
8490 719-725 GeneOrGeneProduct denotes COL3A1 NCBIGene:1281
8491 777-783 GeneOrGeneProduct denotes COL3A1 NCBIGene:1281
8492 971-975 DiseaseOrPhenotypicFeature denotes vEDS MESH:D004535
8493 976-984 OrganismTaxon denotes patients NCBITaxon:9606
8494 1017-1023 GeneOrGeneProduct denotes COL3A1 NCBIGene:1281
8495 1139-1145 GeneOrGeneProduct denotes COL3A1 NCBIGene:1281
8496 1181-1191 SequenceVariant denotes c.2187delA c|DEL|2187|A
8497 1220-1229 SequenceVariant denotes c.2992C>T c|SUB|C|2992|T
8498 1422-1431 SequenceVariant denotes rs1800255 DBSNP:rs1800255
8499 1432-1435 SequenceVariant denotes G>A DBSNP:rs1800255
8500 1437-1446 SequenceVariant denotes rs1801184 DBSNP:rs1801184
8501 1447-1450 SequenceVariant denotes T>C DBSNP:rs1801184
8502 1456-1465 SequenceVariant denotes rs2271683 DBSNP:rs2271683
8503 1466-1469 SequenceVariant denotes A>G DBSNP:rs2271683
8504 1474-1480 GeneOrGeneProduct denotes COL3A1 NCBIGene:1281
8505 1612-1618 GeneOrGeneProduct denotes COL3A1 NCBIGene:1281
8506 1731-1737 GeneOrGeneProduct denotes COL3A1 NCBIGene:1281