| Id |
Subject |
Object |
Predicate |
Lexical cue |
db_id |
| 481 |
17-25 |
DiseaseOrPhenotypicFeature |
denotes |
deafness |
MESH:D003638 |
| 482 |
37-41 |
GeneOrGeneProduct |
denotes |
GJB2 |
NCBIGene:2706 |
| 483 |
80-84 |
GeneOrGeneProduct |
denotes |
GJB2 |
NCBIGene:2706 |
| 484 |
117-159 |
DiseaseOrPhenotypicFeature |
denotes |
non-syndromic autosomal recessive deafness |
MESH:C567134 |
| 485 |
161-166 |
DiseaseOrPhenotypicFeature |
denotes |
NSARD |
MESH:C567134 |
| 486 |
217-221 |
GeneOrGeneProduct |
denotes |
GJB2 |
NCBIGene:2706 |
| 487 |
251-255 |
GeneOrGeneProduct |
denotes |
GJB2 |
NCBIGene:2706 |
| 488 |
389-411 |
DiseaseOrPhenotypicFeature |
denotes |
non-syndromic deafness |
MESH:D003638 |
| 489 |
538-542 |
GeneOrGeneProduct |
denotes |
GJB2 |
NCBIGene:2706 |
| 490 |
729-733 |
GeneOrGeneProduct |
denotes |
GJB2 |
NCBIGene:2706 |
| 491 |
749-760 |
SequenceVariant |
denotes |
g.3318-6T>A |
g|SUB|T|3318-6|A |
| 492 |
762-774 |
SequenceVariant |
denotes |
g.3318-15C>T |
g|SUB|C|3318-15|T |
| 493 |
776-788 |
SequenceVariant |
denotes |
g.3318-34C>T |
g|SUB|C|3318-34|T |
| 494 |
790-802 |
SequenceVariant |
denotes |
g.3318-35T>G |
g|SUB|T|3318-35|G |
| 495 |
829-843 |
SequenceVariant |
denotes |
g.3455_3460del |
g|DEL|3455_3460| |
| 496 |
845-867 |
SequenceVariant |
denotes |
p.Asp46_Gln48delinsGlu |
p|INDEL|46_48|Glu |
| 497 |
906-915 |
SequenceVariant |
denotes |
g.3512C>A |
DBSNP:rs763572195 |
| 498 |
917-925 |
SequenceVariant |
denotes |
p.Tyr65X |
DBSNP:rs763572195 |
| 499 |
950-959 |
SequenceVariant |
denotes |
g.3395C>T |
g|SUB|C|3395|T |
| 500 |
961-968 |
SequenceVariant |
denotes |
p.Thr26 |
p|Allele|T|26 |
| 501 |
971-980 |
SequenceVariant |
denotes |
g.3503C>T |
g|SUB|C|3503|T |
| 502 |
982-989 |
SequenceVariant |
denotes |
p.Asn62 |
p|Allele|N|62 |
| 503 |
992-1001 |
SequenceVariant |
denotes |
g.3627A>C |
g|SUB|A|3627|C |
| 504 |
1003-1011 |
SequenceVariant |
denotes |
p.Arg104 |
p|Allele|R|104 |
| 505 |
1047-1056 |
SequenceVariant |
denotes |
g.3816C>A |
DBSNP:rs111033360 |
| 506 |
1058-1069 |
SequenceVariant |
denotes |
p.Val167Met |
DBSNP:rs111033360 |
| 507 |
1120-1130 |
SequenceVariant |
denotes |
g.3352delG |
g|DEL|3352|G |
| 508 |
1152-1158 |
SequenceVariant |
denotes |
30delG |
c|DEL|30|G |
| 509 |
1162-1169 |
SequenceVariant |
denotes |
35 delG |
c|DEL|35|G |
| 510 |
1172-1181 |
SequenceVariant |
denotes |
g.3426G>A |
DBSNP:rs72474224 |
| 511 |
1183-1193 |
SequenceVariant |
denotes |
p.Val37Ile |
DBSNP:rs72474224 |
| 512 |
1196-1205 |
SequenceVariant |
denotes |
g.3697G>A |
DBSNP:rs111033196 |
| 513 |
1207-1218 |
SequenceVariant |
denotes |
p.Arg127His |
DBSNP:rs111033196 |
| 514 |
1221-1230 |
SequenceVariant |
denotes |
g.3774G>A |
DBSNP:rs111033186 |
| 515 |
1232-1243 |
SequenceVariant |
denotes |
p.Val153Ile |
DBSNP:rs111033186 |
| 516 |
1250-1259 |
SequenceVariant |
denotes |
g.3795G>A |
DBSNP:rs34988750 |
| 517 |
1261-1272 |
SequenceVariant |
denotes |
p.Gly160Ser |
DBSNP:rs34988750 |
| 518 |
1313-1325 |
SequenceVariant |
denotes |
g.3318-34C>T |
g|SUB|C|3318-34|T |
| 519 |
1330-1340 |
SequenceVariant |
denotes |
g.3352delG |
g|DEL|3352|G |
| 520 |
1490-1495 |
DiseaseOrPhenotypicFeature |
denotes |
NSARD |
MESH:C567134 |
| 521 |
1558-1566 |
DiseaseOrPhenotypicFeature |
denotes |
deafness |
MESH:D003638 |
| 522 |
1611-1615 |
GeneOrGeneProduct |
denotes |
GJB2 |
NCBIGene:2706 |
| 523 |
1718-1726 |
DiseaseOrPhenotypicFeature |
denotes |
deafness |
MESH:D003638 |
