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 |