PubMed:17345627
Annnotations
LitCoin-sentences
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 0-123 | Sentence | denotes | Over-expression of BMP4 and BMP5 in a child with axial skeletal malformations and heterotopic ossification: a new syndrome. |
T2 | 124-268 | Sentence | denotes | Bone morphogenetic proteins (BMPs) are a highly conserved class of signaling molecules that induce ectopic cartilage and bone formation in vivo. |
T3 | 269-528 | Sentence | denotes | Dysregulated expression of bone morphogenetic protein 4 (BMP4) is found in the cells of patients who have fibrodysplasia ossificans progressiva (FOP), a genetic disorder of axial and appendicular skeletal malformation and progressive heterotopic ossification. |
T4 | 529-765 | Sentence | denotes | Loss of function mutations in the bone morphogenetic protein 5 (bmp5) gene leading to under-expression of BMP5 cause the murine short ear syndrome, characterized by small malformed ears and a broad range of axial skeletal malformations. |
T5 | 766-981 | Sentence | denotes | We found features reminiscent of both the short ear mouse and FOP in a child with malformed external ears, multiple malformations of the axial skeleton, and progressive heterotopic ossification in the neck and back. |
T6 | 982-1133 | Sentence | denotes | We examined BMP mRNA expression in transformed lymphocytes by semi-quantitative RT-PCR and protein expression by ELISA assays and immunohistochemistry. |
T7 | 1134-1262 | Sentence | denotes | Elevated levels of BMP4 and BMP5 mRNA and protein were detected in the patient's cells while levels of BMP2 mRNA were unchanged. |
T8 | 1263-1437 | Sentence | denotes | Our data suggest that dysregulated expression of BMP4 and BMP5 genes is associated with an array of human axial skeletal abnormalities similar to the short ear mouse and FOP. |
LitCoin-entities-OrganismTaxon-PD
Id | Subject | Object | Predicate | Lexical cue | db_id |
---|---|---|---|---|---|
T1 | 818-823 | OrganismTaxon | denotes | mouse | NCBItxid:10090|NCBItxid:10088 |
T3 | 1363-1368 | OrganismTaxon | denotes | human | NCBItxid:9606 |
T4 | 1423-1428 | OrganismTaxon | denotes | mouse | NCBItxid:10090|NCBItxid:10088 |
LitCoin-entities
Id | Subject | Object | Predicate | Lexical cue | db_id |
---|---|---|---|---|---|
4050 | 19-23 | GeneOrGeneProduct | denotes | BMP4 | NCBIGene:652 |
4051 | 28-32 | GeneOrGeneProduct | denotes | BMP5 | NCBIGene:653 |
4052 | 49-77 | DiseaseOrPhenotypicFeature | denotes | axial skeletal malformations | MESH:D001848 |
4053 | 82-106 | DiseaseOrPhenotypicFeature | denotes | heterotopic ossification | MESH:D009999 |
4054 | 124-151 | GeneOrGeneProduct | denotes | Bone morphogenetic proteins | NCBIGene:649|NCBIGene:650|NCBIGene:652|NCBIGene:653 |
4055 | 153-157 | GeneOrGeneProduct | denotes | BMPs | NCBIGene:649|NCBIGene:650|NCBIGene:652|NCBIGene:653 |
4056 | 223-259 | DiseaseOrPhenotypicFeature | denotes | ectopic cartilage and bone formation | MESH:D001847|MESH:D002357 |
4057 | 296-324 | GeneOrGeneProduct | denotes | bone morphogenetic protein 4 | NCBIGene:652 |
4058 | 326-330 | GeneOrGeneProduct | denotes | BMP4 | NCBIGene:652 |
4059 | 357-365 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
4060 | 375-412 | DiseaseOrPhenotypicFeature | denotes | fibrodysplasia ossificans progressiva | MESH:D009221 |
4061 | 414-417 | DiseaseOrPhenotypicFeature | denotes | FOP | MESH:D009221 |
4062 | 442-486 | DiseaseOrPhenotypicFeature | denotes | axial and appendicular skeletal malformation | MESH:D001848 |
4063 | 503-527 | DiseaseOrPhenotypicFeature | denotes | heterotopic ossification | MESH:D009999 |
4064 | 563-591 | GeneOrGeneProduct | denotes | bone morphogenetic protein 5 | NCBIGene:653 |
4065 | 593-597 | GeneOrGeneProduct | denotes | bmp5 | NCBIGene:653 |
4066 | 635-639 | GeneOrGeneProduct | denotes | BMP5 | NCBIGene:653 |
4067 | 650-656 | OrganismTaxon | denotes | murine | NCBITaxon:10090 |
4068 | 657-675 | DiseaseOrPhenotypicFeature | denotes | short ear syndrome | MESH:D004427 |
4069 | 736-764 | DiseaseOrPhenotypicFeature | denotes | axial skeletal malformations | MESH:D001848 |
4070 | 818-823 | OrganismTaxon | denotes | mouse | NCBITaxon:10090 |
4071 | 828-831 | DiseaseOrPhenotypicFeature | denotes | FOP | MESH:D009221 |
4072 | 848-871 | DiseaseOrPhenotypicFeature | denotes | malformed external ears | MESH:D004426 |
4073 | 873-917 | DiseaseOrPhenotypicFeature | denotes | multiple malformations of the axial skeleton | MESH:D001848 |
4074 | 935-959 | DiseaseOrPhenotypicFeature | denotes | heterotopic ossification | MESH:D009999 |
4075 | 994-997 | GeneOrGeneProduct | denotes | BMP | NCBIGene:649|NCBIGene:650|NCBIGene:652|NCBIGene:653 |
4076 | 1153-1157 | GeneOrGeneProduct | denotes | BMP4 | NCBIGene:652 |
4077 | 1162-1166 | GeneOrGeneProduct | denotes | BMP5 | NCBIGene:653 |
4078 | 1205-1212 | OrganismTaxon | denotes | patient | NCBITaxon:9606 |
4079 | 1237-1241 | GeneOrGeneProduct | denotes | BMP2 | NCBIGene:650 |
4080 | 1312-1316 | GeneOrGeneProduct | denotes | BMP4 | NCBIGene:652 |
4081 | 1321-1325 | GeneOrGeneProduct | denotes | BMP5 | NCBIGene:653 |
4082 | 1363-1368 | OrganismTaxon | denotes | human | NCBITaxon:9606 |
4083 | 1369-1397 | DiseaseOrPhenotypicFeature | denotes | axial skeletal abnormalities | MESH:D001848 |
4084 | 1423-1428 | OrganismTaxon | denotes | mouse | NCBITaxon:10090 |
4085 | 1433-1436 | DiseaseOrPhenotypicFeature | denotes | FOP | MESH:D009221 |
LitCoin_Mondo
Id | Subject | Object | Predicate | Lexical cue | mondo_id |
---|---|---|---|---|---|
T1 | 375-412 | DiseaseOrPhenotypicFeature | denotes | fibrodysplasia ossificans progressiva | 0007606 |
LitCoin-GeneOrGeneProduct-v2
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 19-23 | GeneOrGeneProduct | denotes | BMP4 |
T2 | 28-32 | GeneOrGeneProduct | denotes | BMP5 |
T3 | 114-122 | GeneOrGeneProduct | denotes | syndrome |
T4 | 124-151 | GeneOrGeneProduct | denotes | Bone morphogenetic proteins |
T5 | 153-157 | GeneOrGeneProduct | denotes | BMPs |
T6 | 172-181 | GeneOrGeneProduct | denotes | conserved |
T7 | 296-324 | GeneOrGeneProduct | denotes | bone morphogenetic protein 4 |
T8 | 326-330 | GeneOrGeneProduct | denotes | BMP4 |
T9 | 563-591 | GeneOrGeneProduct | denotes | bone morphogenetic protein 5 |
T10 | 593-597 | GeneOrGeneProduct | denotes | bmp5 |
T11 | 635-639 | GeneOrGeneProduct | denotes | BMP5 |
T12 | 667-675 | GeneOrGeneProduct | denotes | syndrome |
T13 | 694-699 | GeneOrGeneProduct | denotes | small |
T14 | 700-709 | GeneOrGeneProduct | denotes | malformed |
T15 | 721-726 | GeneOrGeneProduct | denotes | broad |
T16 | 848-857 | GeneOrGeneProduct | denotes | malformed |
T17 | 873-881 | GeneOrGeneProduct | denotes | multiple |
T18 | 998-1002 | GeneOrGeneProduct | denotes | mRNA |
T19 | 1029-1040 | GeneOrGeneProduct | denotes | lymphocytes |
T20 | 1044-1048 | GeneOrGeneProduct | denotes | semi |
T21 | 1073-1080 | GeneOrGeneProduct | denotes | protein |
T22 | 1153-1157 | GeneOrGeneProduct | denotes | BMP4 |
T23 | 1162-1166 | GeneOrGeneProduct | denotes | BMP5 |
T24 | 1167-1171 | GeneOrGeneProduct | denotes | mRNA |
T25 | 1176-1183 | GeneOrGeneProduct | denotes | protein |
T26 | 1237-1241 | GeneOrGeneProduct | denotes | BMP2 |
T27 | 1242-1246 | GeneOrGeneProduct | denotes | mRNA |
T28 | 1312-1316 | GeneOrGeneProduct | denotes | BMP4 |
T29 | 1321-1325 | GeneOrGeneProduct | denotes | BMP5 |
T30 | 1398-1405 | GeneOrGeneProduct | denotes | similar |
LitCoin-GeneOrGeneProduct-v0
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 19-23 | GeneOrGeneProduct | denotes | BMP4 |
T2 | 28-32 | GeneOrGeneProduct | denotes | BMP5 |
T3 | 64-77 | GeneOrGeneProduct | denotes | malformations |
T4 | 114-122 | GeneOrGeneProduct | denotes | syndrome |
T5 | 124-151 | GeneOrGeneProduct | denotes | Bone morphogenetic proteins |
T6 | 153-157 | GeneOrGeneProduct | denotes | BMPs |
T7 | 165-171 | GeneOrGeneProduct | denotes | highly |
T8 | 172-181 | GeneOrGeneProduct | denotes | conserved |
T9 | 191-210 | GeneOrGeneProduct | denotes | signaling molecules |
T10 | 216-222 | GeneOrGeneProduct | denotes | induce |
T11 | 245-249 | GeneOrGeneProduct | denotes | bone |
T12 | 250-259 | GeneOrGeneProduct | denotes | formation |
T13 | 296-324 | GeneOrGeneProduct | denotes | bone morphogenetic protein 4 |
T14 | 326-330 | GeneOrGeneProduct | denotes | BMP4 |
T15 | 348-353 | GeneOrGeneProduct | denotes | cells |
T16 | 413-421 | GeneOrGeneProduct | denotes | (FOP), a |
T17 | 474-486 | GeneOrGeneProduct | denotes | malformation |
T18 | 546-555 | GeneOrGeneProduct | denotes | mutations |
T19 | 563-591 | GeneOrGeneProduct | denotes | bone morphogenetic protein 5 |
T20 | 593-597 | GeneOrGeneProduct | denotes | bmp5 |
T21 | 635-639 | GeneOrGeneProduct | denotes | BMP5 |
T22 | 667-675 | GeneOrGeneProduct | denotes | syndrome |
T23 | 694-699 | GeneOrGeneProduct | denotes | small |
T24 | 700-709 | GeneOrGeneProduct | denotes | malformed |
T25 | 710-714 | GeneOrGeneProduct | denotes | ears |
T26 | 721-726 | GeneOrGeneProduct | denotes | broad |
T27 | 727-732 | GeneOrGeneProduct | denotes | range |
T28 | 751-764 | GeneOrGeneProduct | denotes | malformations |
T29 | 832-836 | GeneOrGeneProduct | denotes | in a |
T30 | 848-857 | GeneOrGeneProduct | denotes | malformed |
T31 | 867-871 | GeneOrGeneProduct | denotes | ears |
T32 | 873-881 | GeneOrGeneProduct | denotes | multiple |
T33 | 882-895 | GeneOrGeneProduct | denotes | malformations |
T34 | 998-1002 | GeneOrGeneProduct | denotes | mRNA |
T35 | 1017-1028 | GeneOrGeneProduct | denotes | transformed |
T36 | 1029-1040 | GeneOrGeneProduct | denotes | lymphocytes |
T37 | 1044-1048 | GeneOrGeneProduct | denotes | semi |
T38 | 1073-1080 | GeneOrGeneProduct | denotes | protein |
T39 | 1153-1157 | GeneOrGeneProduct | denotes | BMP4 |
T40 | 1162-1166 | GeneOrGeneProduct | denotes | BMP5 |
T41 | 1167-1171 | GeneOrGeneProduct | denotes | mRNA |
T42 | 1176-1183 | GeneOrGeneProduct | denotes | protein |
T43 | 1215-1220 | GeneOrGeneProduct | denotes | cells |
T44 | 1237-1241 | GeneOrGeneProduct | denotes | BMP2 |
T45 | 1242-1246 | GeneOrGeneProduct | denotes | mRNA |
T46 | 1312-1316 | GeneOrGeneProduct | denotes | BMP4 |
T47 | 1321-1325 | GeneOrGeneProduct | denotes | BMP5 |
T48 | 1398-1405 | GeneOrGeneProduct | denotes | similar |
LitCoin-Disease-MeSH
Id | Subject | Object | Predicate | Lexical cue | originalLabel |
---|---|---|---|---|---|
T1 | 82-106 | DiseaseOrPhenotypicFeature | denotes | heterotopic ossification | D009999 |
T2 | 114-122 | DiseaseOrPhenotypicFeature | denotes | syndrome | D013577 |
T3 | 375-412 | DiseaseOrPhenotypicFeature | denotes | fibrodysplasia ossificans progressiva | D009221 |
T4 | 414-417 | DiseaseOrPhenotypicFeature | denotes | FOP | D009221 |
T5 | 422-438 | DiseaseOrPhenotypicFeature | denotes | genetic disorder | D030342 |
T6 | 503-527 | DiseaseOrPhenotypicFeature | denotes | heterotopic ossification | D009999 |
T7 | 667-675 | DiseaseOrPhenotypicFeature | denotes | syndrome | D013577 |
T8 | 828-831 | DiseaseOrPhenotypicFeature | denotes | FOP | D009221 |
T9 | 935-959 | DiseaseOrPhenotypicFeature | denotes | heterotopic ossification | D009999 |
T10 | 1433-1436 | DiseaseOrPhenotypicFeature | denotes | FOP | D009221 |
LitCoin-GeneOrGeneProduct-v3
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 19-23 | GeneOrGeneProduct | denotes | BMP4 |
T2 | 28-32 | GeneOrGeneProduct | denotes | BMP5 |
T3 | 129-151 | GeneOrGeneProduct | denotes | morphogenetic proteins |
T4 | 153-157 | GeneOrGeneProduct | denotes | BMPs |
T5 | 296-324 | GeneOrGeneProduct | denotes | bone morphogenetic protein 4 |
T6 | 326-330 | GeneOrGeneProduct | denotes | BMP4 |
T7 | 563-591 | GeneOrGeneProduct | denotes | bone morphogenetic protein 5 |
T8 | 593-597 | GeneOrGeneProduct | denotes | bmp5 |
T9 | 635-639 | GeneOrGeneProduct | denotes | BMP5 |
T10 | 1044-1048 | GeneOrGeneProduct | denotes | semi |
T11 | 1073-1091 | GeneOrGeneProduct | denotes | protein expression |
T12 | 1153-1157 | GeneOrGeneProduct | denotes | BMP4 |
T13 | 1162-1166 | GeneOrGeneProduct | denotes | BMP5 |
T14 | 1237-1241 | GeneOrGeneProduct | denotes | BMP2 |
T15 | 1312-1316 | GeneOrGeneProduct | denotes | BMP4 |
T16 | 1321-1325 | GeneOrGeneProduct | denotes | BMP5 |
LitCoin_Mondo_095
Id | Subject | Object | Predicate | Lexical cue | mondo_id |
---|---|---|---|---|---|
T1 | 38-43 | DiseaseOrPhenotypicFeature | denotes | child | 0017015 |
T2 | 114-122 | DiseaseOrPhenotypicFeature | denotes | syndrome | 0002254 |
T3 | 375-412 | DiseaseOrPhenotypicFeature | denotes | fibrodysplasia ossificans progressiva | 0007606|0003964 |
T5 | 414-417 | DiseaseOrPhenotypicFeature | denotes | FOP | 0003964|0007606 |
T7 | 422-438 | DiseaseOrPhenotypicFeature | denotes | genetic disorder | 0003847 |
T8 | 667-675 | DiseaseOrPhenotypicFeature | denotes | syndrome | 0002254 |
T9 | 828-831 | DiseaseOrPhenotypicFeature | denotes | FOP | 0003964|0007606 |
T11 | 837-842 | DiseaseOrPhenotypicFeature | denotes | child | 0017015 |
T12 | 1433-1436 | DiseaseOrPhenotypicFeature | denotes | FOP | 0003964|0007606 |
LitCoin-MeSH-Disease-2
Id | Subject | Object | Predicate | Lexical cue | ID: |
---|---|---|---|---|---|
T1 | 49-77 | DiseaseOrPhenotypicFeature | denotes | axial skeletal malformations | DISEASE |
T2 | 82-106 | DiseaseOrPhenotypicFeature | denotes | heterotopic ossification | D009999 |
T3 | 114-122 | DiseaseOrPhenotypicFeature | denotes | syndrome | D013577 |
T4 | 223-259 | DiseaseOrPhenotypicFeature | denotes | ectopic cartilage and bone formation | DISEASE |
T5 | 375-412 | DiseaseOrPhenotypicFeature | denotes | fibrodysplasia ossificans progressiva | D009221 |
T6 | 414-417 | DiseaseOrPhenotypicFeature | denotes | FOP | D009221 |
T7 | 422-438 | DiseaseOrPhenotypicFeature | denotes | genetic disorder | D030342 |
T8 | 442-486 | DiseaseOrPhenotypicFeature | denotes | axial and appendicular skeletal malformation | DISEASE |
T9 | 503-527 | DiseaseOrPhenotypicFeature | denotes | heterotopic ossification | D009999 |
T10 | 667-675 | DiseaseOrPhenotypicFeature | denotes | syndrome | D013577 |
T11 | 736-764 | DiseaseOrPhenotypicFeature | denotes | axial skeletal malformations | DISEASE |
T12 | 828-831 | DiseaseOrPhenotypicFeature | denotes | FOP | D009221 |
T13 | 848-871 | DiseaseOrPhenotypicFeature | denotes | malformed external ears | DISEASE |
T14 | 873-917 | DiseaseOrPhenotypicFeature | denotes | multiple malformations of the axial skeleton | DISEASE |
T15 | 935-959 | DiseaseOrPhenotypicFeature | denotes | heterotopic ossification | D009999 |
T16 | 1369-1397 | DiseaseOrPhenotypicFeature | denotes | axial skeletal abnormalities | DISEASE |
T17 | 1433-1436 | DiseaseOrPhenotypicFeature | denotes | FOP | D009221 |
LitCoin-MONDO_bioort2019
Id | Subject | Object | Predicate | Lexical cue | #label |
---|---|---|---|---|---|
T1 | 49-77 | DiseaseOrPhenotypicFeature | denotes | axial skeletal malformations | DISEASE |
T2 | 82-106 | DiseaseOrPhenotypicFeature | denotes | heterotopic ossification | D009999 |
T3 | 223-259 | DiseaseOrPhenotypicFeature | denotes | ectopic cartilage and bone formation | DISEASE |
T4 | 375-412 | DiseaseOrPhenotypicFeature | denotes | fibrodysplasia ossificans progressiva | D009221 |
T5 | 414-417 | DiseaseOrPhenotypicFeature | denotes | FOP | D009221 |
T6 | 442-486 | DiseaseOrPhenotypicFeature | denotes | axial and appendicular skeletal malformation | DISEASE |
T7 | 503-527 | DiseaseOrPhenotypicFeature | denotes | heterotopic ossification | D009999 |
T8 | 657-675 | DiseaseOrPhenotypicFeature | denotes | short ear syndrome | EisukeAdded |
T9 | 736-764 | DiseaseOrPhenotypicFeature | denotes | axial skeletal malformations | DISEASE |
T10 | 828-831 | DiseaseOrPhenotypicFeature | denotes | FOP | D009221 |
T11 | 848-871 | DiseaseOrPhenotypicFeature | denotes | malformed external ears | DISEASE |
T12 | 873-917 | DiseaseOrPhenotypicFeature | denotes | multiple malformations of the axial skeleton | DISEASE |
T13 | 935-959 | DiseaseOrPhenotypicFeature | denotes | heterotopic ossification | D009999 |
T14 | 1369-1397 | DiseaseOrPhenotypicFeature | denotes | axial skeletal abnormalities | DISEASE |
T15 | 1433-1436 | DiseaseOrPhenotypicFeature | denotes | FOP | D009221 |
LitCoin-NCBITaxon-2
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 357-365 | OrganismTaxon | denotes | patients |
T2 | 650-656 | OrganismTaxon | denotes | murine |
T3 | 818-823 | OrganismTaxon | denotes | mouse |
T4 | 1363-1368 | OrganismTaxon | denotes | human |
T5 | 1423-1428 | OrganismTaxon | denotes | mouse |
LitCoin-training-merged
Id | Subject | Object | Predicate | Lexical cue | #label |
---|---|---|---|---|---|
T16 | 1321-1325 | GeneOrGeneProduct | denotes | BMP5 | |
T15 | 1312-1316 | GeneOrGeneProduct | denotes | BMP4 | |
T14 | 1237-1241 | GeneOrGeneProduct | denotes | BMP2 | |
T13 | 1162-1166 | GeneOrGeneProduct | denotes | BMP5 | |
T12 | 1153-1157 | GeneOrGeneProduct | denotes | BMP4 | |
T11 | 1073-1091 | GeneOrGeneProduct | denotes | protein expression | |
T10 | 1044-1048 | GeneOrGeneProduct | denotes | semi | |
T9 | 635-639 | GeneOrGeneProduct | denotes | BMP5 | |
T8 | 593-597 | GeneOrGeneProduct | denotes | bmp5 | |
T7 | 563-591 | GeneOrGeneProduct | denotes | bone morphogenetic protein 5 | |
T6 | 326-330 | GeneOrGeneProduct | denotes | BMP4 | |
T5 | 296-324 | GeneOrGeneProduct | denotes | bone morphogenetic protein 4 | |
T4 | 153-157 | GeneOrGeneProduct | denotes | BMPs | |
T3 | 129-151 | GeneOrGeneProduct | denotes | morphogenetic proteins | |
T2 | 28-32 | GeneOrGeneProduct | denotes | BMP5 | |
T1 | 19-23 | GeneOrGeneProduct | denotes | BMP4 | |
T28524 | 1433-1436 | DiseaseOrPhenotypicFeature | denotes | FOP | D009221 |
T64468 | 1369-1397 | DiseaseOrPhenotypicFeature | denotes | axial skeletal abnormalities | DISEASE |
T1021 | 935-959 | DiseaseOrPhenotypicFeature | denotes | heterotopic ossification | D009999 |
T28070 | 873-917 | DiseaseOrPhenotypicFeature | denotes | multiple malformations of the axial skeleton | DISEASE |
T76495 | 848-871 | DiseaseOrPhenotypicFeature | denotes | malformed external ears | DISEASE |
T83874 | 828-831 | DiseaseOrPhenotypicFeature | denotes | FOP | D009221 |
T28987 | 736-764 | DiseaseOrPhenotypicFeature | denotes | axial skeletal malformations | DISEASE |
T79687 | 657-675 | DiseaseOrPhenotypicFeature | denotes | short ear syndrome | EisukeAdded |
T18145 | 503-527 | DiseaseOrPhenotypicFeature | denotes | heterotopic ossification | D009999 |
T59365 | 442-486 | DiseaseOrPhenotypicFeature | denotes | axial and appendicular skeletal malformation | DISEASE |
T23892 | 414-417 | DiseaseOrPhenotypicFeature | denotes | FOP | D009221 |
T61458 | 375-412 | DiseaseOrPhenotypicFeature | denotes | fibrodysplasia ossificans progressiva | D009221 |
T17942 | 223-259 | DiseaseOrPhenotypicFeature | denotes | ectopic cartilage and bone formation | DISEASE |
T23880 | 82-106 | DiseaseOrPhenotypicFeature | denotes | heterotopic ossification | D009999 |
T93284 | 49-77 | DiseaseOrPhenotypicFeature | denotes | axial skeletal malformations | DISEASE |
T66513 | 1423-1428 | OrganismTaxon | denotes | mouse | |
T70354 | 1363-1368 | OrganismTaxon | denotes | human | |
T10025 | 818-823 | OrganismTaxon | denotes | mouse | |
T23195 | 650-656 | OrganismTaxon | denotes | murine | |
T58105 | 357-365 | OrganismTaxon | denotes | patients |
sentences
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
TextSentencer_T1 | 0-123 | Sentence | denotes | Over-expression of BMP4 and BMP5 in a child with axial skeletal malformations and heterotopic ossification: a new syndrome. |
TextSentencer_T2 | 124-268 | Sentence | denotes | Bone morphogenetic proteins (BMPs) are a highly conserved class of signaling molecules that induce ectopic cartilage and bone formation in vivo. |
TextSentencer_T3 | 269-528 | Sentence | denotes | Dysregulated expression of bone morphogenetic protein 4 (BMP4) is found in the cells of patients who have fibrodysplasia ossificans progressiva (FOP), a genetic disorder of axial and appendicular skeletal malformation and progressive heterotopic ossification. |
TextSentencer_T4 | 529-765 | Sentence | denotes | Loss of function mutations in the bone morphogenetic protein 5 (bmp5) gene leading to under-expression of BMP5 cause the murine short ear syndrome, characterized by small malformed ears and a broad range of axial skeletal malformations. |
TextSentencer_T5 | 766-981 | Sentence | denotes | We found features reminiscent of both the short ear mouse and FOP in a child with malformed external ears, multiple malformations of the axial skeleton, and progressive heterotopic ossification in the neck and back. |
TextSentencer_T6 | 982-1133 | Sentence | denotes | We examined BMP mRNA expression in transformed lymphocytes by semi-quantitative RT-PCR and protein expression by ELISA assays and immunohistochemistry. |
TextSentencer_T7 | 1134-1262 | Sentence | denotes | Elevated levels of BMP4 and BMP5 mRNA and protein were detected in the patient's cells while levels of BMP2 mRNA were unchanged. |
TextSentencer_T8 | 1263-1437 | Sentence | denotes | Our data suggest that dysregulated expression of BMP4 and BMP5 genes is associated with an array of human axial skeletal abnormalities similar to the short ear mouse and FOP. |
T1 | 0-123 | Sentence | denotes | Over-expression of BMP4 and BMP5 in a child with axial skeletal malformations and heterotopic ossification: a new syndrome. |
T2 | 124-268 | Sentence | denotes | Bone morphogenetic proteins (BMPs) are a highly conserved class of signaling molecules that induce ectopic cartilage and bone formation in vivo. |
T3 | 269-528 | Sentence | denotes | Dysregulated expression of bone morphogenetic protein 4 (BMP4) is found in the cells of patients who have fibrodysplasia ossificans progressiva (FOP), a genetic disorder of axial and appendicular skeletal malformation and progressive heterotopic ossification. |
T4 | 529-765 | Sentence | denotes | Loss of function mutations in the bone morphogenetic protein 5 (bmp5) gene leading to under-expression of BMP5 cause the murine short ear syndrome, characterized by small malformed ears and a broad range of axial skeletal malformations. |
T5 | 766-981 | Sentence | denotes | We found features reminiscent of both the short ear mouse and FOP in a child with malformed external ears, multiple malformations of the axial skeleton, and progressive heterotopic ossification in the neck and back. |
T6 | 982-1133 | Sentence | denotes | We examined BMP mRNA expression in transformed lymphocytes by semi-quantitative RT-PCR and protein expression by ELISA assays and immunohistochemistry. |
T7 | 1134-1262 | Sentence | denotes | Elevated levels of BMP4 and BMP5 mRNA and protein were detected in the patient's cells while levels of BMP2 mRNA were unchanged. |
T8 | 1263-1437 | Sentence | denotes | Our data suggest that dysregulated expression of BMP4 and BMP5 genes is associated with an array of human axial skeletal abnormalities similar to the short ear mouse and FOP. |
DisGeNET
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T0 | 563-591 | gene:653 | denotes | bone morphogenetic protein 5 |
T1 | 751-764 | disease:C0000768 | denotes | malformations |
T2 | 593-597 | gene:653 | denotes | bmp5 |
T3 | 751-764 | disease:C0000768 | denotes | malformations |
T4 | 635-639 | gene:653 | denotes | BMP5 |
T5 | 751-764 | disease:C0000768 | denotes | malformations |
R1 | T0 | T1 | associated_with | bone morphogenetic protein 5,malformations |
R2 | T2 | T3 | associated_with | bmp5,malformations |
R3 | T4 | T5 | associated_with | BMP5,malformations |
PubmedHPO
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 223-259 | HP_0011986 | denotes | ectopic cartilage and bone formation |
T2 | 465-486 | HP_0000924 | denotes | skeletal malformation |
T3 | 503-527 | HP_0011986 | denotes | heterotopic ossification |
T4 | 657-666 | HP_0400005 | denotes | short ear |
T5 | 700-714 | HP_0000377 | denotes | malformed ears |
T6 | 700-714 | HP_0000598 | denotes | malformed ears |
T7 | 700-714 | HP_0000356 | denotes | malformed ears |
T8 | 742-764 | HP_0000924 | denotes | skeletal malformations |
T9 | 808-817 | HP_0400005 | denotes | short ear |
T10 | 848-871 | HP_0000377 | denotes | malformed external ears |
T11 | 848-871 | HP_0000356 | denotes | malformed external ears |
T12 | 848-871 | HP_0008572 | denotes | malformed external ears |
T13 | 935-959 | HP_0011986 | denotes | heterotopic ossification |
T14 | 1375-1397 | HP_0000924 | denotes | skeletal abnormalities |
T15 | 1413-1422 | HP_0400005 | denotes | short ear |
DisGeNET5_gene_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
17345627-7#49#53#gene652 | 1312-1316 | gene652 | denotes | BMP4 |
17345627-7#170#173#diseaseC0016037 | 1433-1436 | diseaseC0016037 | denotes | FOP |
49#53#gene652170#173#diseaseC0016037 | 17345627-7#49#53#gene652 | 17345627-7#170#173#diseaseC0016037 | associated_with | BMP4,FOP |
PubCasesHPO
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
AB1 | 657-666 | HP:0400005 | denotes | short ear |
AB2 | 808-817 | HP:0400005 | denotes | short ear |
AB3 | 1413-1422 | HP:0400005 | denotes | short ear |
PubCasesORDO
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
AB1 | 375-412 | ORDO:337 | denotes | fibrodysplasia ossificans progressiva |
AB2 | 414-417 | ORDO:337 | denotes | FOP |
AB3 | 828-831 | ORDO:337 | denotes | FOP |
AB4 | 1433-1436 | ORDO:337 | denotes | FOP |
performance-test
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
PD-UBERON-AE-B_T1 | 909-917 | http://purl.obolibrary.org/obo/UBERON_0004288 | denotes | skeleton |
PD-UBERON-AE-B_T2 | 452-473 | http://purl.obolibrary.org/obo/UBERON_0002091 | denotes | appendicular skeletal |
PD-UBERON-AE-B_T3 | 663-666 | http://purl.obolibrary.org/obo/UBERON_0001690 | denotes | ear |
PD-UBERON-AE-B_T4 | 710-714 | http://purl.obolibrary.org/obo/UBERON_0001690 | denotes | ears |
PD-UBERON-AE-B_T5 | 814-817 | http://purl.obolibrary.org/obo/UBERON_0001690 | denotes | ear |
PD-UBERON-AE-B_T6 | 867-871 | http://purl.obolibrary.org/obo/UBERON_0001690 | denotes | ears |
PD-UBERON-AE-B_T7 | 1419-1422 | http://purl.obolibrary.org/obo/UBERON_0001690 | denotes | ear |
PD-UBERON-AE-B_T8 | 858-871 | http://purl.obolibrary.org/obo/UBERON_0001691 | denotes | external ears |
PD-UBERON-AE-B_T9 | 967-971 | http://purl.obolibrary.org/obo/UBERON_0000974 | denotes | neck |