PubMed:2828430
Annnotations
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-107 | Sentence | denotes | Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level. |
| TextSentencer_T2 | 108-251 | Sentence | denotes | apoB DNA, RNA, and protein from two patients with homozygous hypobetalipoproteinemia (HBL) were evaluated and compared with normal individuals. |
| TextSentencer_T3 | 252-383 | Sentence | denotes | Southern blot analysis with 10 different cDNA probes revealed a normal gene without major insertions, deletions, or rearrangements. |
| TextSentencer_T4 | 384-536 | Sentence | denotes | Northern and slot blot analyses of total liver mRNA from HBL patients documented a normal size apoB mRNA that was present in greatly reduced quantities. |
| TextSentencer_T5 | 537-708 | Sentence | denotes | ApoB protein was detected within HBL hepatocytes utilizing immunohistochemical techniques; however, it was markedly reduced in quantity when compared with control samples. |
| TextSentencer_T6 | 709-785 | Sentence | denotes | No apoB was detectable in the plasma of HBL individuals with an ELISA assay. |
| TextSentencer_T7 | 786-951 | Sentence | denotes | These data are most consistent with a mutation in the coding portion of the apoB gene in HBL patients, leading to an abnormal apoB protein and apoB mRNA instability. |
| TextSentencer_T8 | 952-1153 | Sentence | denotes | These results are distinct from those previously noted in abetalipoproteinemia, which was characterized by an elevated level of hepatic apoB mRNA and accumulation of intracellular hepatic apoB protein. |
| T1 | 0-107 | Sentence | denotes | Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level. |
| T2 | 108-251 | Sentence | denotes | apoB DNA, RNA, and protein from two patients with homozygous hypobetalipoproteinemia (HBL) were evaluated and compared with normal individuals. |
| T3 | 252-383 | Sentence | denotes | Southern blot analysis with 10 different cDNA probes revealed a normal gene without major insertions, deletions, or rearrangements. |
| T4 | 384-536 | Sentence | denotes | Northern and slot blot analyses of total liver mRNA from HBL patients documented a normal size apoB mRNA that was present in greatly reduced quantities. |
| T5 | 537-708 | Sentence | denotes | ApoB protein was detected within HBL hepatocytes utilizing immunohistochemical techniques; however, it was markedly reduced in quantity when compared with control samples. |
| T6 | 709-785 | Sentence | denotes | No apoB was detectable in the plasma of HBL individuals with an ELISA assay. |
| T7 | 786-951 | Sentence | denotes | These data are most consistent with a mutation in the coding portion of the apoB gene in HBL patients, leading to an abnormal apoB protein and apoB mRNA instability. |
| T8 | 952-1153 | Sentence | denotes | These results are distinct from those previously noted in abetalipoproteinemia, which was characterized by an elevated level of hepatic apoB mRNA and accumulation of intracellular hepatic apoB protein. |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 537-541 | gene:338 | denotes | ApoB |
| T1 | 570-573 | disease:C0020597 | denotes | HBL |
| R1 | T0 | T1 | associated_with | ApoB,HBL |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 169-192 | HP_0003563 | denotes | hypobetalipoproteinemia |
| T2 | 1010-1030 | HP_0008181 | denotes | abetalipoproteinemia |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 2828430-6#76#80#gene338 | 862-866 | gene338 | denotes | apoB |
| 2828430-6#89#92#diseaseC0206624 | 875-878 | diseaseC0206624 | denotes | HBL |
| 76#80#gene33889#92#diseaseC0206624 | 2828430-6#76#80#gene338 | 2828430-6#89#92#diseaseC0206624 | associated_with | apoB,HBL |
UBERON-AE
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 425-430 | http://purl.obolibrary.org/obo/UBERON_0002107 | denotes | liver |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 11-34 | HP:0003563 | denotes | hypobetalipoproteinemia |
| AB1 | 169-192 | HP:0003563 | denotes | hypobetalipoproteinemia |
| AB2 | 1010-1030 | HP:0008181 | denotes | abetalipoproteinemia |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 1010-1030 | ORDO:14 | denotes | abetalipoproteinemia |
performance-test
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 425-430 | http://purl.obolibrary.org/obo/UBERON_0002107 | denotes | liver |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-34 | SpecificDisease:D006995 | denotes | Homozygous hypobetalipoproteinemia |
| T2 | 60-83 | SpecificDisease:D000012 | denotes | abetalipoproproteinemia |
| T3 | 158-192 | SpecificDisease:D006995 | denotes | homozygous hypobetalipoproteinemia |
| T4 | 194-197 | SpecificDisease:D006995 | denotes | HBL |
| T5 | 441-444 | Modifier:D006995 | denotes | HBL |
| T6 | 570-573 | Modifier:D006995 | denotes | HBL |
| T7 | 749-752 | Modifier:D006995 | denotes | HBL |
| T8 | 875-878 | Modifier:D006995 | denotes | HBL |
| T9 | 1010-1030 | SpecificDisease:D000012 | denotes | abetalipoproteinemia |
NCBI-Disease-Train
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T135 | 0-34 | SpecificDisease | denotes | Homozygous hypobetalipoproteinemia | D006995 |
| T136 | 60-83 | SpecificDisease | denotes | abetalipoproproteinemia | D000012 |
| T137 | 158-192 | SpecificDisease | denotes | homozygous hypobetalipoproteinemia | D006995 |
| T138 | 194-197 | SpecificDisease | denotes | HBL | D006995 |
| T139 | 441-444 | Modifier | denotes | HBL | D006995 |
| T140 | 570-573 | Modifier | denotes | HBL | D006995 |
| T141 | 749-752 | Modifier | denotes | HBL | D006995 |
| T142 | 875-878 | Modifier | denotes | HBL | D006995 |
| T143 | 1010-1030 | SpecificDisease | denotes | abetalipoproteinemia | D000012 |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T135 | 0-34 | SpecificDisease | denotes | Homozygous hypobetalipoproteinemia | D006995 |
| T136 | 60-83 | SpecificDisease | denotes | abetalipoproproteinemia | D000012 |
| T137 | 158-192 | SpecificDisease | denotes | homozygous hypobetalipoproteinemia | D006995 |
| T138 | 194-197 | SpecificDisease | denotes | HBL | D006995 |
| T139 | 441-444 | Modifier | denotes | HBL | D006995 |
| T140 | 570-573 | Modifier | denotes | HBL | D006995 |
| T141 | 749-752 | Modifier | denotes | HBL | D006995 |
| T142 | 875-878 | Modifier | denotes | HBL | D006995 |
| T143 | 1010-1030 | SpecificDisease | denotes | abetalipoproteinemia | D000012 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 11-34 | SpecificDisease | denotes | hypobetalipoproteinemia |
| T2 | 60-83 | SpecificDisease | denotes | abetalipoproproteinemia |
| T3 | 169-192 | SpecificDisease | denotes | hypobetalipoproteinemia |
| T4 | 441-444 | Modifier | denotes | HBL |
| T5 | 570-573 | Modifier | denotes | HBL |
| T6 | 749-752 | Modifier | denotes | HBL |
| T7 | 875-878 | Modifier | denotes | HBL |
| T8 | 1010-1030 | SpecificDisease | denotes | abetalipoproteinemia |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 11-34 | SpecificDisease | denotes | hypobetalipoproteinemia |
| T2 | 60-83 | SpecificDisease | denotes | abetalipoproproteinemia |
| T3 | 169-192 | SpecificDisease | denotes | hypobetalipoproteinemia |
| T4 | 1010-1030 | SpecificDisease | denotes | abetalipoproteinemia |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-34 | SpecificDisease | denotes | Homozygous hypobetalipoproteinemia |
| T2 | 60-83 | SpecificDisease | denotes | abetalipoproproteinemia |
| T3 | 158-192 | SpecificDisease | denotes | homozygous hypobetalipoproteinemia |
| T4 | 441-444 | SpecificDisease | denotes | HBL |
| T5 | 570-573 | SpecificDisease | denotes | HBL |
| T6 | 749-752 | SpecificDisease | denotes | HBL |
| T7 | 875-878 | SpecificDisease | denotes | HBL |
| T8 | 1010-1030 | SpecificDisease | denotes | abetalipoproteinemia |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-34 | SpecificDisease | denotes | Homozygous hypobetalipoproteinemia |
| T2 | 60-83 | SpecificDisease | denotes | abetalipoproproteinemia |
| T3 | 158-192 | SpecificDisease | denotes | homozygous hypobetalipoproteinemia |
| T4 | 441-444 | SpecificDisease | denotes | HBL |
| T5 | 570-573 | SpecificDisease | denotes | HBL |
| T6 | 749-752 | SpecificDisease | denotes | HBL |
| T7 | 875-878 | SpecificDisease | denotes | HBL |
| T8 | 1010-1030 | SpecificDisease | denotes | abetalipoproteinemia |