PubMed:10024240
Annnotations
DisGeNET5_gene_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
10024240-4#10#15#gene7353 | 562-567 | gene7353 | denotes | UFD1L |
10024240-4#164#169#gene7353 | 716-721 | gene7353 | denotes | UFD1L |
10024240-4#223#246#diseaseC2936346 | 775-798 | diseaseC2936346 | denotes | 22q11 deletion syndrome |
10#15#gene7353223#246#diseaseC2936346 | 10024240-4#10#15#gene7353 | 10024240-4#223#246#diseaseC2936346 | associated_with | UFD1L,22q11 deletion syndrome |
164#169#gene7353223#246#diseaseC2936346 | 10024240-4#164#169#gene7353 | 10024240-4#223#246#diseaseC2936346 | associated_with | UFD1L,22q11 deletion syndrome |
bionlp-st-gro-2013-development
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 50-55 | Eukaryote | denotes | human |
T2 | 56-63 | Tissue | denotes | cardiac |
T3 | 68-80 | Tissue | denotes | craniofacial |
T4 | 108-118 | Chromosome | denotes | chromosome |
T5 | 177-184 | Tissue | denotes | cardiac |
T6 | 189-201 | Tissue | denotes | craniofacial |
T7 | 215-221 | Eukaryote | denotes | humans |
T8 | 236-241 | Eukaryote | denotes | mouse |
T9 | 242-247 | Gene | denotes | genes |
T10 | 261-266 | TranscriptionFactor | denotes | dHAND |
T11 | 270-290 | TranscriptionFactor | denotes | transcription factor |
T13 | 342-346 | Gene | denotes | Ufd1 |
T14 | 362-367 | Eukaryote | denotes | human |
T15 | 388-395 | Protein | denotes | protein |
T18 | 447-452 | Eukaryote | denotes | Mouse |
T19 | 453-457 | Protein | denotes | Ufd1 |
T21 | 493-500 | Tissue | denotes | tissues |
T23 | 556-561 | Eukaryote | denotes | human |
T24 | 562-572 | Gene | denotes | UFD1L gene |
T25 | 700-705 | Exon | denotes | exons |
T26 | 716-721 | Gene | denotes | UFD1L |
T27 | 824-829 | Gene | denotes | UFD1L |
T30 | 305-317 | Tissue | denotes | neural crest |
T31 | 368-373 | Chromosome | denotes | 22q11 |
T17 | 437-445 | Protein | denotes | proteins |
T22 | 527-532 | Chromosome | denotes | 22q11 |
T36 | 618-623 | Chromosome | denotes | 22q11 |
T38 | 775-780 | Chromosome | denotes | 22q11 |
T41 | 879-884 | Tissue | denotes | heart |
T42 | 889-901 | Tissue | denotes | craniofacial |
T43 | 918-923 | Chromosome | denotes | 22q11 |
E2 | 408-419 | ProteinCatabolism | denotes | degradation |
E3 | 475-484 | GeneExpression | denotes | expressed |
E5 | 12-19 | Pathway | denotes | pathway |
E6 | 90-104 | Mutation | denotes | Microdeletions |
E1 | 318-329 | DevelopmentalProcess | denotes | development |
E7 | 423-436 | ProteinModification | denotes | ubiquitinated |
E4 | 533-541 | Mutation | denotes | deletion |
E8 | 542-550 | Disease | denotes | syndrome |
E9 | 577-584 | Mutation | denotes | deleted |
E10 | 624-632 | Mutation | denotes | deletion |
E11 | 781-789 | Mutation | denotes | deletion |
E12 | 790-798 | Disease | denotes | syndrome |
E13 | 924-932 | Mutation | denotes | deletion |
R1 | T2 | T1 | fromSpecies | cardiac,human |
R2 | T3 | T1 | fromSpecies | craniofacial,human |
R3 | T5 | T7 | fromSpecies | cardiac,humans |
R4 | T6 | T7 | fromSpecies | craniofacial,humans |
R5 | T9 | T8 | fromSpecies | genes,mouse |
R6 | T13 | T15 | encodes | Ufd1,protein |
R8 | T19 | T18 | fromSpecies | Ufd1,Mouse |
R9 | E3 | T21 | locatedIn | expressed,tissues |
R10 | T24 | T23 | fromSpecies | UFD1L gene,human |
R11 | T26 | T25 | hasPart | UFD1L,exons |
R12 | E6 | T4 | locatedIn | Microdeletions,chromosome |
R13 | T13 | T31 | locatedIn | Ufd1,22q11 |
R7 | T31 | T14 | fromSpecies | 22q11,human |
R14 | E4 | T22 | locatedIn | deletion,22q11 |
R15 | E10 | T36 | locatedIn | deletion,22q11 |
R16 | E11 | T38 | locatedIn | deletion,22q11 |
R17 | E13 | T43 | locatedIn | deletion,22q11 |
R19 | T17 | E2 | hasPatient | proteins,degradation |
R20 | T19 | E3 | hasPatient | Ufd1,expressed |
R21 | T11 | E1 | hasAgent | transcription factor,development |
R22 | T30 | E1 | hasPatient | neural crest,development |
R23 | T17 | E7 | hasPatient | proteins,ubiquitinated |
R24 | T24 | E9 | hasPatient | UFD1L gene,deleted |
PubmedHPO
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 177-211 | HP_0001627 | denotes | cardiac and craniofacial anomalies |
T2 | 189-211 | HP_0001999 | denotes | craniofacial anomalies |
T3 | 868-909 | HP_0002564 | denotes | congenital heart and craniofacial defects |
T4 | 879-909 | HP_0001627 | denotes | heart and craniofacial defects |
T5 | 889-909 | HP_0001999 | denotes | craniofacial defects |
DisGeNET
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T0 | 453-457 | gene:7353 | denotes | Ufd1 |
T1 | 527-550 | disease:C2936346 | denotes | 22q11 deletion syndrome |
T2 | 716-721 | gene:7353 | denotes | UFD1L |
T3 | 775-798 | disease:C2936346 | denotes | 22q11 deletion syndrome |
T4 | 562-567 | gene:7353 | denotes | UFD1L |
T5 | 775-798 | disease:C2936346 | denotes | 22q11 deletion syndrome |
R1 | T0 | T1 | associated_with | Ufd1,22q11 deletion syndrome |
R2 | T2 | T3 | associated_with | UFD1L,22q11 deletion syndrome |
R3 | T4 | T5 | associated_with | UFD1L,22q11 deletion syndrome |