PubMed:17549393 JSONTXT 27 Projects

Annnotations TAB TSV DIC JSON TextAE

Id Subject Object Predicate Lexical cue db_id
4119 8-12 GeneOrGeneProduct denotes IRF6 NCBIGene:3664
4120 32-36 SequenceVariant denotes Y67X p|SUB|Y|67|X
4121 62-84 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome MESH:C536528
4122 86-108 DiseaseOrPhenotypicFeature denotes Van der Woude syndrome MESH:C536528
4123 110-113 DiseaseOrPhenotypicFeature denotes VWS MESH:C536528
4124 142-167 DiseaseOrPhenotypicFeature denotes syndromic orofacial cleft MESH:D002972
4125 212-232 DiseaseOrPhenotypicFeature denotes cleft lip and palate MESH:D002971|MESH:D002972
4126 293-301 DiseaseOrPhenotypicFeature denotes lip pits MESH:C536528
4127 303-312 DiseaseOrPhenotypicFeature denotes cleft lip MESH:D002971
4128 317-329 DiseaseOrPhenotypicFeature denotes cleft palate MESH:D002972
4129 335-345 DiseaseOrPhenotypicFeature denotes hypodontia MESH:D000848
4130 347-350 DiseaseOrPhenotypicFeature denotes VWS MESH:C536528
4131 406-436 GeneOrGeneProduct denotes interferon regulatory factor 6 NCBIGene:3664
4132 438-442 GeneOrGeneProduct denotes IRF6 NCBIGene:3664
4133 586-590 GeneOrGeneProduct denotes IRF6 NCBIGene:3664
4134 628-631 DiseaseOrPhenotypicFeature denotes VWS MESH:C536528
4135 632-640 OrganismTaxon denotes patients NCBITaxon:9606
4136 752-756 GeneOrGeneProduct denotes IRF6 NCBIGene:3664
4137 904-908 GeneOrGeneProduct denotes IRF6 NCBIGene:3664
4138 921-929 OrganismTaxon denotes patients NCBITaxon:9606
4139 972-980 SequenceVariant denotes c.201C>A c|SUB|C|201|A
4140 994-1046 SequenceVariant denotes tyrosine codon at amino acid position 67 into a stop p|SUB|Y|67|X
4141 1054-1060 SequenceVariant denotes p.Y67X p|SUB|Y|67|X
4142 1196-1200 GeneOrGeneProduct denotes Smad NCBIGene:4086
4143 1201-1229 GeneOrGeneProduct denotes interferon regulatory factor NCBIGene:3664
4144 1290-1294 GeneOrGeneProduct denotes Smad NCBIGene:4086