PubMed:21903317
Annnotations
LitCoin-sentences
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 0-108 | Sentence | denotes | Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD. |
T2 | 109-290 | Sentence | denotes | Homozygous or compound heterozygous mutations in renin (REN) cause renal tubular dysgenesis, which is characterized by death in utero due to kidney failure and pulmonary hypoplasia. |
T3 | 291-435 | Sentence | denotes | The phenotype resembles the fetopathy caused by angiotensin-converting enzyme inhibitor or angiotensin receptor blocker intake during pregnancy. |
T4 | 436-565 | Sentence | denotes | Recently, heterozygous REN mutations were shown to result in early-onset hyperuricemia, anemia, and chronic kidney disease (CKD). |
T5 | 566-639 | Sentence | denotes | To date, only 3 different heterozygous REN mutations have been published. |
T6 | 640-843 | Sentence | denotes | We report mutation analysis of the REN gene in 39 kindreds with hyperuricemia and CKD who previously tested negative for mutations in the UMOD (uromodulin) and HNF1B (hepatocyte nuclear factor 1β) genes. |
T7 | 844-1092 | Sentence | denotes | We identified one kindred with a novel thymidine to cytosine mutation at position 28 in the REN complementary DNA, corresponding to a tryptophan to arginine substitution at amino acid 10, which is found within the signal sequence (c.28T>C; p.W10R). |
T8 | 1093-1176 | Sentence | denotes | On this basis, we conclude that REN mutations are rare events in patients with CKD. |
T9 | 1177-1350 | Sentence | denotes | Within the kindred, we found affected individuals over 4 generations who carried the novel REN mutation and were characterized by significant anemia, hyperuricemia, and CKD. |
T10 | 1351-1432 | Sentence | denotes | Anemia was severe and disproportional to the degree of decreased kidney function. |
T11 | 1433-1691 | Sentence | denotes | Because all heterozygous REN mutations that have been described are localized in the signal sequence, screening of the REN gene for patients with CKD with hyperuricemia and anemia may best be focused on sequencing of exon 1, which encodes the signal peptide. |
LitCoin-entities-OrganismTaxon-PD
Id | Subject | Object | Predicate | Lexical cue | db_id |
---|---|---|---|---|---|
T1 | 77-83 | OrganismTaxon | denotes | anemia | NCBItxid:12939 |
T2 | 524-530 | OrganismTaxon | denotes | anemia | NCBItxid:12939 |
T3 | 1319-1325 | OrganismTaxon | denotes | anemia | NCBItxid:12939 |
T4 | 1351-1357 | OrganismTaxon | denotes | Anemia | NCBItxid:12939 |
T5 | 1606-1612 | OrganismTaxon | denotes | anemia | NCBItxid:12939 |
LitCoin-entities
Id | Subject | Object | Predicate | Lexical cue | db_id |
---|---|---|---|---|---|
8851 | 53-58 | GeneOrGeneProduct | denotes | renin | NCBIGene:5972 |
8852 | 77-83 | DiseaseOrPhenotypicFeature | denotes | anemia | MESH:D000740 |
8853 | 85-98 | DiseaseOrPhenotypicFeature | denotes | hyperuricemia | MESH:D033461 |
8854 | 104-107 | DiseaseOrPhenotypicFeature | denotes | CKD | MESH:D051436 |
8855 | 158-163 | GeneOrGeneProduct | denotes | renin | NCBIGene:5972 |
8856 | 165-168 | GeneOrGeneProduct | denotes | REN | NCBIGene:5972 |
8857 | 176-200 | DiseaseOrPhenotypicFeature | denotes | renal tubular dysgenesis | MESH:C537048 |
8858 | 228-233 | DiseaseOrPhenotypicFeature | denotes | death | MESH:D003643 |
8859 | 250-264 | DiseaseOrPhenotypicFeature | denotes | kidney failure | MESH:D051437 |
8860 | 269-289 | DiseaseOrPhenotypicFeature | denotes | pulmonary hypoplasia | MESH:D008171 |
8861 | 319-328 | DiseaseOrPhenotypicFeature | denotes | fetopathy | MESH:C576203 |
8862 | 339-378 | ChemicalEntity | denotes | angiotensin-converting enzyme inhibitor | MESH:D000806 |
8863 | 382-410 | ChemicalEntity | denotes | angiotensin receptor blocker | MESH:D057911 |
8864 | 459-462 | GeneOrGeneProduct | denotes | REN | NCBIGene:5972 |
8865 | 509-522 | DiseaseOrPhenotypicFeature | denotes | hyperuricemia | MESH:D033461 |
8866 | 524-530 | DiseaseOrPhenotypicFeature | denotes | anemia | MESH:D000740 |
8867 | 536-558 | DiseaseOrPhenotypicFeature | denotes | chronic kidney disease | MESH:D051436 |
8868 | 560-563 | DiseaseOrPhenotypicFeature | denotes | CKD | MESH:D051436 |
8869 | 605-608 | GeneOrGeneProduct | denotes | REN | NCBIGene:5972 |
8870 | 675-678 | GeneOrGeneProduct | denotes | REN | NCBIGene:5972 |
8871 | 704-717 | DiseaseOrPhenotypicFeature | denotes | hyperuricemia | MESH:D033461 |
8872 | 722-725 | DiseaseOrPhenotypicFeature | denotes | CKD | MESH:D051436 |
8873 | 778-782 | GeneOrGeneProduct | denotes | UMOD | NCBIGene:7369 |
8874 | 784-794 | GeneOrGeneProduct | denotes | uromodulin | NCBIGene:7369 |
8875 | 800-805 | GeneOrGeneProduct | denotes | HNF1B | NCBIGene:6928 |
8876 | 807-835 | GeneOrGeneProduct | denotes | hepatocyte nuclear factor 1β | NCBIGene:6928 |
8877 | 883-928 | SequenceVariant | denotes | thymidine to cytosine mutation at position 28 | c|SUB|T|28|C |
8878 | 936-939 | GeneOrGeneProduct | denotes | REN | NCBIGene:5972 |
8879 | 978-1030 | SequenceVariant | denotes | tryptophan to arginine substitution at amino acid 10 | p|SUB|W|10|R |
8880 | 1075-1082 | SequenceVariant | denotes | c.28T>C | c|SUB|T|28|C |
8881 | 1084-1090 | SequenceVariant | denotes | p.W10R | p|SUB|W|10|R |
8882 | 1125-1128 | GeneOrGeneProduct | denotes | REN | NCBIGene:5972 |
8883 | 1158-1166 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
8884 | 1172-1175 | DiseaseOrPhenotypicFeature | denotes | CKD | MESH:D051436 |
8885 | 1268-1271 | GeneOrGeneProduct | denotes | REN | NCBIGene:5972 |
8886 | 1319-1325 | DiseaseOrPhenotypicFeature | denotes | anemia | MESH:D000740 |
8887 | 1327-1340 | DiseaseOrPhenotypicFeature | denotes | hyperuricemia | MESH:D033461 |
8888 | 1346-1349 | DiseaseOrPhenotypicFeature | denotes | CKD | MESH:D051436 |
8889 | 1351-1357 | DiseaseOrPhenotypicFeature | denotes | Anemia | MESH:D000740 |
8890 | 1458-1461 | GeneOrGeneProduct | denotes | REN | NCBIGene:5972 |
8891 | 1552-1555 | GeneOrGeneProduct | denotes | REN | NCBIGene:5972 |
8892 | 1565-1573 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
8893 | 1579-1582 | DiseaseOrPhenotypicFeature | denotes | CKD | MESH:D051436 |
8894 | 1588-1601 | DiseaseOrPhenotypicFeature | denotes | hyperuricemia | MESH:D033461 |
8895 | 1606-1612 | DiseaseOrPhenotypicFeature | denotes | anemia | MESH:D000740 |
LitCoin-SeqVar
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 1075-1082 | SequenceVariant | denotes | c.28T>C |
T2 | 1084-1090 | SequenceVariant | denotes | p.W10R |
LitCoin_Mondo
Id | Subject | Object | Predicate | Lexical cue | mondo_id |
---|---|---|---|---|---|
T1 | 77-83 | DiseaseOrPhenotypicFeature | denotes | anemia | 0002280 |
T2 | 176-200 | DiseaseOrPhenotypicFeature | denotes | renal tubular dysgenesis | 0017609 |
T3 | 250-264 | DiseaseOrPhenotypicFeature | denotes | kidney failure | 0001106 |
T4 | 524-530 | DiseaseOrPhenotypicFeature | denotes | anemia | 0002280 |
T5 | 536-558 | DiseaseOrPhenotypicFeature | denotes | chronic kidney disease | 0005300 |
T6 | 544-558 | DiseaseOrPhenotypicFeature | denotes | kidney disease | 0005240 |
T7 | 1143-1147 | DiseaseOrPhenotypicFeature | denotes | rare | 0021136 |
T8 | 1319-1325 | DiseaseOrPhenotypicFeature | denotes | anemia | 0002280 |
T9 | 1351-1357 | DiseaseOrPhenotypicFeature | denotes | Anemia | 0002280 |
T10 | 1606-1612 | DiseaseOrPhenotypicFeature | denotes | anemia | 0002280 |
LitCoin-GeneOrGeneProduct-v0
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 19-27 | GeneOrGeneProduct | denotes | mutation |
T2 | 35-49 | GeneOrGeneProduct | denotes | signal peptide |
T3 | 53-58 | GeneOrGeneProduct | denotes | renin |
T4 | 145-154 | GeneOrGeneProduct | denotes | mutations |
T5 | 158-163 | GeneOrGeneProduct | denotes | renin |
T6 | 165-168 | GeneOrGeneProduct | denotes | REN |
T19 | 675-678 | GeneOrGeneProduct | denotes | REN |
T7 | 250-256 | GeneOrGeneProduct | denotes | kidney |
T8 | 339-368 | GeneOrGeneProduct | denotes | angiotensin-converting enzyme |
T9 | 369-378 | GeneOrGeneProduct | denotes | inhibitor |
T10 | 382-402 | GeneOrGeneProduct | denotes | angiotensin receptor |
T11 | 403-410 | GeneOrGeneProduct | denotes | blocker |
T12 | 459-462 | GeneOrGeneProduct | denotes | REN |
T13 | 463-472 | GeneOrGeneProduct | denotes | mutations |
T14 | 497-502 | GeneOrGeneProduct | denotes | early |
T15 | 544-550 | GeneOrGeneProduct | denotes | kidney |
T16 | 605-608 | GeneOrGeneProduct | denotes | REN |
T17 | 609-618 | GeneOrGeneProduct | denotes | mutations |
T18 | 650-658 | GeneOrGeneProduct | denotes | mutation |
T20 | 679-689 | GeneOrGeneProduct | denotes | gene in 39 |
T21 | 741-747 | GeneOrGeneProduct | denotes | tested |
T22 | 761-770 | GeneOrGeneProduct | denotes | mutations |
T23 | 778-782 | GeneOrGeneProduct | denotes | UMOD |
T25 | 800-805 | GeneOrGeneProduct | denotes | HNF1B |
T24 | 784-794 | GeneOrGeneProduct | denotes | uromodulin |
T26 | 807-834 | GeneOrGeneProduct | denotes | hepatocyte nuclear factor 1 |
T27 | 877-882 | GeneOrGeneProduct | denotes | novel |
T28 | 905-913 | GeneOrGeneProduct | denotes | mutation |
T29 | 926-931 | GeneOrGeneProduct | denotes | 28 in |
T30 | 936-939 | GeneOrGeneProduct | denotes | REN |
T31 | 1017-1027 | GeneOrGeneProduct | denotes | amino acid |
T32 | 1101-1106 | GeneOrGeneProduct | denotes | basis |
T33 | 1125-1128 | GeneOrGeneProduct | denotes | REN |
T34 | 1129-1138 | GeneOrGeneProduct | denotes | mutations |
T35 | 1143-1147 | GeneOrGeneProduct | denotes | rare |
T36 | 1262-1267 | GeneOrGeneProduct | denotes | novel |
T37 | 1268-1271 | GeneOrGeneProduct | denotes | REN |
T38 | 1272-1280 | GeneOrGeneProduct | denotes | mutation |
T39 | 1416-1422 | GeneOrGeneProduct | denotes | kidney |
T40 | 1441-1444 | GeneOrGeneProduct | denotes | all |
T41 | 1458-1461 | GeneOrGeneProduct | denotes | REN |
T42 | 1462-1476 | GeneOrGeneProduct | denotes | mutations that |
T43 | 1552-1555 | GeneOrGeneProduct | denotes | REN |
T44 | 1617-1621 | GeneOrGeneProduct | denotes | best |
T45 | 1676-1690 | GeneOrGeneProduct | denotes | signal peptide |
LitCoin-GeneOrGeneProduct-v2
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 35-49 | GeneOrGeneProduct | denotes | signal peptide |
T2 | 53-58 | GeneOrGeneProduct | denotes | renin |
T3 | 158-163 | GeneOrGeneProduct | denotes | renin |
T4 | 165-168 | GeneOrGeneProduct | denotes | REN |
T5 | 250-256 | GeneOrGeneProduct | denotes | kidney |
T6 | 339-368 | GeneOrGeneProduct | denotes | angiotensin-converting enzyme |
T7 | 369-378 | GeneOrGeneProduct | denotes | inhibitor |
T8 | 382-402 | GeneOrGeneProduct | denotes | angiotensin receptor |
T9 | 403-410 | GeneOrGeneProduct | denotes | blocker |
T10 | 459-462 | GeneOrGeneProduct | denotes | REN |
T11 | 497-502 | GeneOrGeneProduct | denotes | early |
T12 | 544-550 | GeneOrGeneProduct | denotes | kidney |
T13 | 605-608 | GeneOrGeneProduct | denotes | REN |
T14 | 675-678 | GeneOrGeneProduct | denotes | REN |
T15 | 778-782 | GeneOrGeneProduct | denotes | UMOD |
T16 | 784-794 | GeneOrGeneProduct | denotes | uromodulin |
T17 | 800-805 | GeneOrGeneProduct | denotes | HNF1B |
T18 | 807-834 | GeneOrGeneProduct | denotes | hepatocyte nuclear factor 1 |
T19 | 877-882 | GeneOrGeneProduct | denotes | novel |
T20 | 936-939 | GeneOrGeneProduct | denotes | REN |
T21 | 1017-1027 | GeneOrGeneProduct | denotes | amino acid |
T22 | 1125-1128 | GeneOrGeneProduct | denotes | REN |
T23 | 1143-1147 | GeneOrGeneProduct | denotes | rare |
T24 | 1262-1267 | GeneOrGeneProduct | denotes | novel |
T25 | 1268-1271 | GeneOrGeneProduct | denotes | REN |
T26 | 1416-1422 | GeneOrGeneProduct | denotes | kidney |
T27 | 1458-1461 | GeneOrGeneProduct | denotes | REN |
T28 | 1552-1555 | GeneOrGeneProduct | denotes | REN |
T29 | 1617-1621 | GeneOrGeneProduct | denotes | best |
T30 | 1676-1690 | GeneOrGeneProduct | denotes | signal peptide |
LitCoin-Disease-MeSH
Id | Subject | Object | Predicate | Lexical cue | originalLabel |
---|---|---|---|---|---|
T1 | 77-83 | DiseaseOrPhenotypicFeature | denotes | anemia | D000740 |
T2 | 85-98 | DiseaseOrPhenotypicFeature | denotes | hyperuricemia | D033461 |
T3 | 104-107 | DiseaseOrPhenotypicFeature | denotes | CKD | D051436 |
T4 | 176-200 | DiseaseOrPhenotypicFeature | denotes | renal tubular dysgenesis | C537048 |
T5 | 228-233 | DiseaseOrPhenotypicFeature | denotes | death | D003643 |
T6 | 250-264 | DiseaseOrPhenotypicFeature | denotes | kidney failure | D051437 |
T7 | 509-522 | DiseaseOrPhenotypicFeature | denotes | hyperuricemia | D033461 |
T8 | 524-530 | DiseaseOrPhenotypicFeature | denotes | anemia | D000740 |
T9 | 536-558 | DiseaseOrPhenotypicFeature | denotes | chronic kidney disease | D051436 |
T10 | 560-563 | DiseaseOrPhenotypicFeature | denotes | CKD | D051436 |
T11 | 704-717 | DiseaseOrPhenotypicFeature | denotes | hyperuricemia | D033461 |
T12 | 722-725 | DiseaseOrPhenotypicFeature | denotes | CKD | D051436 |
T13 | 1172-1175 | DiseaseOrPhenotypicFeature | denotes | CKD | D051436 |
T14 | 1319-1325 | DiseaseOrPhenotypicFeature | denotes | anemia | D000740 |
T15 | 1327-1340 | DiseaseOrPhenotypicFeature | denotes | hyperuricemia | D033461 |
T16 | 1346-1349 | DiseaseOrPhenotypicFeature | denotes | CKD | D051436 |
T17 | 1351-1357 | DiseaseOrPhenotypicFeature | denotes | Anemia | D000740 |
T18 | 1579-1582 | DiseaseOrPhenotypicFeature | denotes | CKD | D051436 |
T19 | 1588-1601 | DiseaseOrPhenotypicFeature | denotes | hyperuricemia | D033461 |
T20 | 1606-1612 | DiseaseOrPhenotypicFeature | denotes | anemia | D000740 |
LitCoin-GeneOrGeneProduct-v3
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 35-49 | GeneOrGeneProduct | denotes | signal peptide |
T2 | 53-58 | GeneOrGeneProduct | denotes | renin |
T3 | 158-163 | GeneOrGeneProduct | denotes | renin |
T4 | 165-168 | GeneOrGeneProduct | denotes | REN |
T5 | 382-402 | GeneOrGeneProduct | denotes | angiotensin receptor |
T6 | 459-462 | GeneOrGeneProduct | denotes | REN |
T7 | 605-608 | GeneOrGeneProduct | denotes | REN |
T8 | 675-678 | GeneOrGeneProduct | denotes | REN |
T9 | 778-782 | GeneOrGeneProduct | denotes | UMOD |
T10 | 784-794 | GeneOrGeneProduct | denotes | uromodulin |
T11 | 800-805 | GeneOrGeneProduct | denotes | HNF1B |
T12 | 807-834 | GeneOrGeneProduct | denotes | hepatocyte nuclear factor 1 |
T13 | 936-939 | GeneOrGeneProduct | denotes | REN |
T14 | 1125-1128 | GeneOrGeneProduct | denotes | REN |
T15 | 1268-1271 | GeneOrGeneProduct | denotes | REN |
T16 | 1458-1461 | GeneOrGeneProduct | denotes | REN |
T17 | 1552-1555 | GeneOrGeneProduct | denotes | REN |
T18 | 1676-1690 | GeneOrGeneProduct | denotes | signal peptide |
LitCoin_Mondo_095
Id | Subject | Object | Predicate | Lexical cue | mondo_id |
---|---|---|---|---|---|
T1 | 77-83 | DiseaseOrPhenotypicFeature | denotes | anemia | 0002280 |
T2 | 104-107 | DiseaseOrPhenotypicFeature | denotes | CKD | 0005300 |
T3 | 176-200 | DiseaseOrPhenotypicFeature | denotes | renal tubular dysgenesis | 0017609|0009970 |
T5 | 250-264 | DiseaseOrPhenotypicFeature | denotes | kidney failure | 0001106 |
T6 | 524-530 | DiseaseOrPhenotypicFeature | denotes | anemia | 0002280 |
T7 | 536-558 | DiseaseOrPhenotypicFeature | denotes | chronic kidney disease | 0005300 |
T8 | 560-563 | DiseaseOrPhenotypicFeature | denotes | CKD | 0005300 |
T9 | 722-725 | DiseaseOrPhenotypicFeature | denotes | CKD | 0005300 |
T10 | 1172-1175 | DiseaseOrPhenotypicFeature | denotes | CKD | 0005300 |
T11 | 1319-1325 | DiseaseOrPhenotypicFeature | denotes | anemia | 0002280 |
T12 | 1346-1349 | DiseaseOrPhenotypicFeature | denotes | CKD | 0005300 |
T13 | 1579-1582 | DiseaseOrPhenotypicFeature | denotes | CKD | 0005300 |
T14 | 1606-1612 | DiseaseOrPhenotypicFeature | denotes | anemia | 0002280 |
LitCoin-MeSH-Disease-2
Id | Subject | Object | Predicate | Lexical cue | ID: |
---|---|---|---|---|---|
T1 | 77-83 | DiseaseOrPhenotypicFeature | denotes | anemia | D000740 |
T2 | 85-98 | DiseaseOrPhenotypicFeature | denotes | hyperuricemia | D033461 |
T3 | 104-107 | DiseaseOrPhenotypicFeature | denotes | CKD | D051436 |
T4 | 176-200 | DiseaseOrPhenotypicFeature | denotes | renal tubular dysgenesis | C537048 |
T5 | 228-233 | DiseaseOrPhenotypicFeature | denotes | death | D003643 |
T6 | 250-264 | DiseaseOrPhenotypicFeature | denotes | kidney failure | D051437 |
T7 | 269-289 | DiseaseOrPhenotypicFeature | denotes | pulmonary hypoplasia | DISEASE |
T8 | 319-328 | DiseaseOrPhenotypicFeature | denotes | fetopathy | DISEASE |
T9 | 509-522 | DiseaseOrPhenotypicFeature | denotes | hyperuricemia | D033461 |
T10 | 524-530 | DiseaseOrPhenotypicFeature | denotes | anemia | D000740 |
T11 | 536-558 | DiseaseOrPhenotypicFeature | denotes | chronic kidney disease | D051436 |
T12 | 560-563 | DiseaseOrPhenotypicFeature | denotes | CKD | D051436 |
T13 | 704-717 | DiseaseOrPhenotypicFeature | denotes | hyperuricemia | D033461 |
T14 | 722-725 | DiseaseOrPhenotypicFeature | denotes | CKD | D051436 |
T15 | 1172-1175 | DiseaseOrPhenotypicFeature | denotes | CKD | D051436 |
T16 | 1319-1325 | DiseaseOrPhenotypicFeature | denotes | anemia | D000740 |
T17 | 1327-1340 | DiseaseOrPhenotypicFeature | denotes | hyperuricemia | D033461 |
T18 | 1346-1349 | DiseaseOrPhenotypicFeature | denotes | CKD | D051436 |
T19 | 1351-1357 | DiseaseOrPhenotypicFeature | denotes | Anemia | D000740 |
T20 | 1579-1582 | DiseaseOrPhenotypicFeature | denotes | CKD | D051436 |
T21 | 1588-1601 | DiseaseOrPhenotypicFeature | denotes | hyperuricemia | D033461 |
T22 | 1606-1612 | DiseaseOrPhenotypicFeature | denotes | anemia | D000740 |
LitCoin-MONDO_bioort2019
Id | Subject | Object | Predicate | Lexical cue | #label |
---|---|---|---|---|---|
T1 | 77-83 | DiseaseOrPhenotypicFeature | denotes | anemia | D000740 |
T2 | 85-98 | DiseaseOrPhenotypicFeature | denotes | hyperuricemia | D033461 |
T3 | 104-107 | DiseaseOrPhenotypicFeature | denotes | CKD | D051436 |
T4 | 176-200 | DiseaseOrPhenotypicFeature | denotes | renal tubular dysgenesis | C537048 |
T5 | 250-264 | DiseaseOrPhenotypicFeature | denotes | kidney failure | D051437 |
T6 | 269-289 | DiseaseOrPhenotypicFeature | denotes | pulmonary hypoplasia | DISEASE |
T7 | 319-328 | DiseaseOrPhenotypicFeature | denotes | fetopathy | DISEASE |
T8 | 509-522 | DiseaseOrPhenotypicFeature | denotes | hyperuricemia | D033461 |
T9 | 524-530 | DiseaseOrPhenotypicFeature | denotes | anemia | D000740 |
T10 | 536-558 | DiseaseOrPhenotypicFeature | denotes | chronic kidney disease | D051436 |
T11 | 560-563 | DiseaseOrPhenotypicFeature | denotes | CKD | D051436 |
T12 | 704-717 | DiseaseOrPhenotypicFeature | denotes | hyperuricemia | D033461 |
T13 | 722-725 | DiseaseOrPhenotypicFeature | denotes | CKD | D051436 |
T14 | 1172-1175 | DiseaseOrPhenotypicFeature | denotes | CKD | D051436 |
T15 | 1319-1325 | DiseaseOrPhenotypicFeature | denotes | anemia | D000740 |
T16 | 1327-1340 | DiseaseOrPhenotypicFeature | denotes | hyperuricemia | D033461 |
T17 | 1346-1349 | DiseaseOrPhenotypicFeature | denotes | CKD | D051436 |
T18 | 1351-1357 | DiseaseOrPhenotypicFeature | denotes | Anemia | D000740 |
T19 | 1579-1582 | DiseaseOrPhenotypicFeature | denotes | CKD | D051436 |
T20 | 1588-1601 | DiseaseOrPhenotypicFeature | denotes | hyperuricemia | D033461 |
T21 | 1606-1612 | DiseaseOrPhenotypicFeature | denotes | anemia | D000740 |
LitCoin-NCBITaxon-2
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 1158-1166 | OrganismTaxon | denotes | patients |
T2 | 1565-1573 | OrganismTaxon | denotes | patients |
LitCoin-Chemical-MeSH-CHEBI
Id | Subject | Object | Predicate | Lexical cue | ID: |
---|---|---|---|---|---|
T1 | 53-58 | ChemicalEntity | denotes | renin | D012083 |
T2 | 158-163 | ChemicalEntity | denotes | renin | D012083 |
T3 | 165-168 | ChemicalEntity | denotes | REN | D012083 |
T4 | 339-378 | ChemicalEntity | denotes | angiotensin-converting enzyme inhibitor | ChemicalEntity |
T5 | 382-393 | ChemicalEntity | denotes | angiotensin | http://purl.obolibrary.org/obo/CHEBI_48433 |
T6 | 459-462 | ChemicalEntity | denotes | REN | D012083 |
T7 | 605-608 | ChemicalEntity | denotes | REN | D012083 |
T8 | 675-678 | ChemicalEntity | denotes | REN | D012083 |
T9 | 883-892 | ChemicalEntity | denotes | thymidine | http://purl.obolibrary.org/obo/CHEBI_17748 |
T10 | 896-904 | ChemicalEntity | denotes | cytosine | D003596|http://purl.obolibrary.org/obo/CHEBI_16040 |
T12 | 936-939 | ChemicalEntity | denotes | REN | D012083 |
T13 | 978-988 | ChemicalEntity | denotes | tryptophan | http://purl.obolibrary.org/obo/CHEBI_57912|http://purl.obolibrary.org/obo/CHEBI_57719|http://purl.obolibrary.org/obo/CHEBI_27897|http://purl.obolibrary.org/obo/CHEBI_16828 |
T17 | 992-1000 | ChemicalEntity | denotes | arginine | http://purl.obolibrary.org/obo/CHEBI_32696|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_16467 |
T20 | 1125-1128 | ChemicalEntity | denotes | REN | D012083 |
T21 | 1268-1271 | ChemicalEntity | denotes | REN | D012083 |
T22 | 1458-1461 | ChemicalEntity | denotes | REN | D012083 |
T23 | 1552-1555 | ChemicalEntity | denotes | REN | D012083 |
LitCoin-training-merged
Id | Subject | Object | Predicate | Lexical cue | #label | ID: |
---|---|---|---|---|---|---|
T23 | 1552-1555 | ChemicalEntity | denotes | REN | D012083 | |
T22 | 1458-1461 | ChemicalEntity | denotes | REN | D012083 | |
T21 | 1268-1271 | ChemicalEntity | denotes | REN | D012083 | |
T20 | 1125-1128 | ChemicalEntity | denotes | REN | D012083 | |
T17 | 992-1000 | ChemicalEntity | denotes | arginine | http://purl.obolibrary.org/obo/CHEBI_16467|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_32696 | |
T13 | 978-988 | ChemicalEntity | denotes | tryptophan | http://purl.obolibrary.org/obo/CHEBI_16828|http://purl.obolibrary.org/obo/CHEBI_27897|http://purl.obolibrary.org/obo/CHEBI_57719|http://purl.obolibrary.org/obo/CHEBI_57912 | |
T12 | 936-939 | ChemicalEntity | denotes | REN | D012083 | |
T10 | 896-904 | ChemicalEntity | denotes | cytosine | http://purl.obolibrary.org/obo/CHEBI_16040|D003596 | |
T9 | 883-892 | ChemicalEntity | denotes | thymidine | http://purl.obolibrary.org/obo/CHEBI_17748 | |
T8 | 675-678 | ChemicalEntity | denotes | REN | D012083 | |
T7 | 605-608 | ChemicalEntity | denotes | REN | D012083 | |
T6 | 459-462 | ChemicalEntity | denotes | REN | D012083 | |
T5 | 382-393 | ChemicalEntity | denotes | angiotensin | http://purl.obolibrary.org/obo/CHEBI_48433 | |
T4 | 339-378 | ChemicalEntity | denotes | angiotensin-converting enzyme inhibitor | ChemicalEntity | |
T3 | 165-168 | ChemicalEntity | denotes | REN | D012083 | |
T2 | 158-163 | ChemicalEntity | denotes | renin | D012083 | |
T1 | 53-58 | ChemicalEntity | denotes | renin | D012083 | |
T18 | 1676-1690 | GeneOrGeneProduct | denotes | signal peptide | ||
T62544 | 1552-1555 | GeneOrGeneProduct | denotes | REN | ||
T16 | 1458-1461 | GeneOrGeneProduct | denotes | REN | ||
T15 | 1268-1271 | GeneOrGeneProduct | denotes | REN | ||
T14 | 1125-1128 | GeneOrGeneProduct | denotes | REN | ||
T55345 | 936-939 | GeneOrGeneProduct | denotes | REN | ||
T94276 | 807-834 | GeneOrGeneProduct | denotes | hepatocyte nuclear factor 1 | ||
T11 | 800-805 | GeneOrGeneProduct | denotes | HNF1B | ||
T65264 | 784-794 | GeneOrGeneProduct | denotes | uromodulin | ||
T85927 | 778-782 | GeneOrGeneProduct | denotes | UMOD | ||
T74450 | 675-678 | GeneOrGeneProduct | denotes | REN | ||
T29803 | 605-608 | GeneOrGeneProduct | denotes | REN | ||
T21977 | 459-462 | GeneOrGeneProduct | denotes | REN | ||
T60468 | 382-402 | GeneOrGeneProduct | denotes | angiotensin receptor | ||
T34530 | 165-168 | GeneOrGeneProduct | denotes | REN | ||
T98643 | 158-163 | GeneOrGeneProduct | denotes | renin | ||
T60777 | 53-58 | GeneOrGeneProduct | denotes | renin | ||
T16831 | 35-49 | GeneOrGeneProduct | denotes | signal peptide | ||
T32687 | 1606-1612 | DiseaseOrPhenotypicFeature | denotes | anemia | D000740 | |
T26770 | 1588-1601 | DiseaseOrPhenotypicFeature | denotes | hyperuricemia | D033461 | |
T19 | 1579-1582 | DiseaseOrPhenotypicFeature | denotes | CKD | D051436 | |
T35495 | 1351-1357 | DiseaseOrPhenotypicFeature | denotes | Anemia | D000740 | |
T42418 | 1346-1349 | DiseaseOrPhenotypicFeature | denotes | CKD | D051436 | |
T18977 | 1327-1340 | DiseaseOrPhenotypicFeature | denotes | hyperuricemia | D033461 | |
T24893 | 1319-1325 | DiseaseOrPhenotypicFeature | denotes | anemia | D000740 | |
T28823 | 1172-1175 | DiseaseOrPhenotypicFeature | denotes | CKD | D051436 | |
T76159 | 722-725 | DiseaseOrPhenotypicFeature | denotes | CKD | D051436 | |
T73209 | 704-717 | DiseaseOrPhenotypicFeature | denotes | hyperuricemia | D033461 | |
T67502 | 560-563 | DiseaseOrPhenotypicFeature | denotes | CKD | D051436 | |
T975 | 536-558 | DiseaseOrPhenotypicFeature | denotes | chronic kidney disease | D051436 | |
T94451 | 524-530 | DiseaseOrPhenotypicFeature | denotes | anemia | D000740 | |
T24376 | 509-522 | DiseaseOrPhenotypicFeature | denotes | hyperuricemia | D033461 | |
T47458 | 319-328 | DiseaseOrPhenotypicFeature | denotes | fetopathy | DISEASE | |
T29313 | 269-289 | DiseaseOrPhenotypicFeature | denotes | pulmonary hypoplasia | DISEASE | |
T98568 | 250-264 | DiseaseOrPhenotypicFeature | denotes | kidney failure | D051437 | |
T64640 | 176-200 | DiseaseOrPhenotypicFeature | denotes | renal tubular dysgenesis | C537048 | |
T55177 | 104-107 | DiseaseOrPhenotypicFeature | denotes | CKD | D051436 | |
T15051 | 85-98 | DiseaseOrPhenotypicFeature | denotes | hyperuricemia | D033461 | |
T87390 | 77-83 | DiseaseOrPhenotypicFeature | denotes | anemia | D000740 | |
T37170 | 1565-1573 | OrganismTaxon | denotes | patients | ||
T28669 | 1158-1166 | OrganismTaxon | denotes | patients | ||
T85647 | 1084-1090 | SequenceVariant | denotes | p.W10R | ||
T37086 | 1075-1082 | SequenceVariant | denotes | c.28T>C |
sentences
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
TextSentencer_T1 | 0-108 | Sentence | denotes | Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD. |
TextSentencer_T2 | 109-290 | Sentence | denotes | Homozygous or compound heterozygous mutations in renin (REN) cause renal tubular dysgenesis, which is characterized by death in utero due to kidney failure and pulmonary hypoplasia. |
TextSentencer_T3 | 291-435 | Sentence | denotes | The phenotype resembles the fetopathy caused by angiotensin-converting enzyme inhibitor or angiotensin receptor blocker intake during pregnancy. |
TextSentencer_T4 | 436-565 | Sentence | denotes | Recently, heterozygous REN mutations were shown to result in early-onset hyperuricemia, anemia, and chronic kidney disease (CKD). |
TextSentencer_T5 | 566-639 | Sentence | denotes | To date, only 3 different heterozygous REN mutations have been published. |
TextSentencer_T6 | 640-843 | Sentence | denotes | We report mutation analysis of the REN gene in 39 kindreds with hyperuricemia and CKD who previously tested negative for mutations in the UMOD (uromodulin) and HNF1B (hepatocyte nuclear factor 1β) genes. |
TextSentencer_T7 | 844-1092 | Sentence | denotes | We identified one kindred with a novel thymidine to cytosine mutation at position 28 in the REN complementary DNA, corresponding to a tryptophan to arginine substitution at amino acid 10, which is found within the signal sequence (c.28T>C; p.W10R). |
TextSentencer_T8 | 1093-1176 | Sentence | denotes | On this basis, we conclude that REN mutations are rare events in patients with CKD. |
TextSentencer_T9 | 1177-1350 | Sentence | denotes | Within the kindred, we found affected individuals over 4 generations who carried the novel REN mutation and were characterized by significant anemia, hyperuricemia, and CKD. |
TextSentencer_T10 | 1351-1432 | Sentence | denotes | Anemia was severe and disproportional to the degree of decreased kidney function. |
TextSentencer_T11 | 1433-1691 | Sentence | denotes | Because all heterozygous REN mutations that have been described are localized in the signal sequence, screening of the REN gene for patients with CKD with hyperuricemia and anemia may best be focused on sequencing of exon 1, which encodes the signal peptide. |
T1 | 0-108 | Sentence | denotes | Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD. |
T2 | 109-290 | Sentence | denotes | Homozygous or compound heterozygous mutations in renin (REN) cause renal tubular dysgenesis, which is characterized by death in utero due to kidney failure and pulmonary hypoplasia. |
T3 | 291-435 | Sentence | denotes | The phenotype resembles the fetopathy caused by angiotensin-converting enzyme inhibitor or angiotensin receptor blocker intake during pregnancy. |
T4 | 436-565 | Sentence | denotes | Recently, heterozygous REN mutations were shown to result in early-onset hyperuricemia, anemia, and chronic kidney disease (CKD). |
T5 | 566-639 | Sentence | denotes | To date, only 3 different heterozygous REN mutations have been published. |
T6 | 640-843 | Sentence | denotes | We report mutation analysis of the REN gene in 39 kindreds with hyperuricemia and CKD who previously tested negative for mutations in the UMOD (uromodulin) and HNF1B (hepatocyte nuclear factor 1β) genes. |
T7 | 844-1092 | Sentence | denotes | We identified one kindred with a novel thymidine to cytosine mutation at position 28 in the REN complementary DNA, corresponding to a tryptophan to arginine substitution at amino acid 10, which is found within the signal sequence (c.28T>C; p.W10R). |
T8 | 1093-1176 | Sentence | denotes | On this basis, we conclude that REN mutations are rare events in patients with CKD. |
T9 | 1177-1350 | Sentence | denotes | Within the kindred, we found affected individuals over 4 generations who carried the novel REN mutation and were characterized by significant anemia, hyperuricemia, and CKD. |
T10 | 1351-1432 | Sentence | denotes | Anemia was severe and disproportional to the degree of decreased kidney function. |
T11 | 1433-1691 | Sentence | denotes | Because all heterozygous REN mutations that have been described are localized in the signal sequence, screening of the REN gene for patients with CKD with hyperuricemia and anemia may best be focused on sequencing of exon 1, which encodes the signal peptide. |
DisGeNET
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T0 | 1458-1461 | gene:5972 | denotes | REN |
T1 | 1606-1612 | disease:C0002871 | denotes | anemia |
T2 | 1552-1555 | gene:5972 | denotes | REN |
T3 | 1579-1582 | disease:C1561643 | denotes | CKD |
T4 | 1552-1555 | gene:5972 | denotes | REN |
T5 | 1588-1601 | disease:C0740394 | denotes | hyperuricemia |
T6 | 1552-1555 | gene:5972 | denotes | REN |
T7 | 1606-1612 | disease:C0002871 | denotes | anemia |
R1 | T0 | T1 | associated_with | REN,anemia |
R2 | T2 | T3 | associated_with | REN,CKD |
R3 | T4 | T5 | associated_with | REN,hyperuricemia |
R4 | T6 | T7 | associated_with | REN,anemia |
PubmedHPO
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 176-200 | HP_0008660 | denotes | renal tubular dysgenesis |
T2 | 269-289 | HP_0002089 | denotes | pulmonary hypoplasia |
T3 | 509-522 | HP_0002149 | denotes | hyperuricemia |
T4 | 524-530 | HP_0001903 | denotes | anemia |
T5 | 536-558 | HP_0012622 | denotes | chronic kidney disease |
T6 | 704-717 | HP_0002149 | denotes | hyperuricemia |
T7 | 1319-1325 | HP_0001903 | denotes | anemia |
T8 | 1327-1340 | HP_0002149 | denotes | hyperuricemia |
T9 | 1351-1357 | HP_0001903 | denotes | Anemia |
T10 | 1588-1601 | HP_0002149 | denotes | hyperuricemia |
T11 | 1606-1612 | HP_0001903 | denotes | anemia |
Allie
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
SS1_21903317_1_0 | 158-163 | expanded | denotes | renin |
SS2_21903317_1_0 | 165-168 | abbr | denotes | REN |
SS1_21903317_3_0 | 536-558 | expanded | denotes | chronic kidney disease |
SS2_21903317_3_0 | 560-563 | abbr | denotes | CKD |
SS1_21903317_5_0 | 807-835 | expanded | denotes | hepatocyte nuclear factor 1β |
SS2_21903317_5_0 | 800-805 | abbr | denotes | HNF1B |
AE1_21903317_1_0 | SS1_21903317_1_0 | SS2_21903317_1_0 | abbreviatedTo | renin,REN |
AE1_21903317_3_0 | SS1_21903317_3_0 | SS2_21903317_3_0 | abbreviatedTo | chronic kidney disease,CKD |
AE1_21903317_5_0 | SS1_21903317_5_0 | SS2_21903317_5_0 | abbreviatedTo | hepatocyte nuclear factor 1β,HNF1B |
DisGeNET5_gene_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
21903317-0#53#58#gene5972 | 53-58 | gene5972 | denotes | renin |
21903317-0#77#83#diseaseC0002871 | 77-83 | diseaseC0002871 | denotes | anemia |
21903317-0#104#107#diseaseC1561643 | 104-107 | diseaseC1561643 | denotes | CKD |
21903317-1#49#54#gene5972 | 158-163 | gene5972 | denotes | renin |
21903317-1#56#59#gene5972 | 165-168 | gene5972 | denotes | REN |
21903317-1#67#91#diseaseC0266313 | 176-200 | diseaseC0266313 | denotes | renal tubular dysgenesis |
21903317-1#141#155#diseaseC0035078 | 250-264 | diseaseC0035078 | denotes | kidney failure |
21903317-1#160#180#diseaseC0265783 | 269-289 | diseaseC0265783 | denotes | pulmonary hypoplasia |
21903317-1#67#91#diseaseC0266313 | 176-200 | diseaseC0266313 | denotes | renal tubular dysgenesis |
21903317-1#141#155#diseaseC0035078 | 250-264 | diseaseC0035078 | denotes | kidney failure |
21903317-1#160#180#diseaseC0265783 | 269-289 | diseaseC0265783 | denotes | pulmonary hypoplasia |
21903317-10#119#122#gene5972 | 1552-1555 | gene5972 | denotes | REN |
21903317-10#155#168#diseaseC0740394 | 1588-1601 | diseaseC0740394 | denotes | hyperuricemia |
21903317-5#138#142#gene7369 | 778-782 | gene7369 | denotes | UMOD |
21903317-5#144#154#gene7369 | 784-794 | gene7369 | denotes | uromodulin |
21903317-5#160#165#gene6928 | 800-805 | gene6928 | denotes | HNF1B |
21903317-5#167#195#gene6928 | 807-835 | gene6928 | denotes | hepatocyte nuclear factor 1β |
21903317-5#82#85#diseaseC1561643 | 722-725 | diseaseC1561643 | denotes | CKD |
21903317-5#64#77#diseaseC0740394 | 704-717 | diseaseC0740394 | denotes | hyperuricemia |
21903317-5#82#85#diseaseC1561643 | 722-725 | diseaseC1561643 | denotes | CKD |
21903317-5#64#77#diseaseC0740394 | 704-717 | diseaseC0740394 | denotes | hyperuricemia |
21903317-5#82#85#diseaseC1561643 | 722-725 | diseaseC1561643 | denotes | CKD |
21903317-5#64#77#diseaseC0740394 | 704-717 | diseaseC0740394 | denotes | hyperuricemia |
21903317-5#82#85#diseaseC1561643 | 722-725 | diseaseC1561643 | denotes | CKD |
53#58#gene597277#83#diseaseC0002871 | 21903317-0#53#58#gene5972 | 21903317-0#77#83#diseaseC0002871 | associated_with | renin,anemia |
53#58#gene5972104#107#diseaseC1561643 | 21903317-0#53#58#gene5972 | 21903317-0#104#107#diseaseC1561643 | associated_with | renin,CKD |
49#54#gene597267#91#diseaseC0266313 | 21903317-1#49#54#gene5972 | 21903317-1#67#91#diseaseC0266313 | associated_with | renin,renal tubular dysgenesis |
49#54#gene5972141#155#diseaseC0035078 | 21903317-1#49#54#gene5972 | 21903317-1#141#155#diseaseC0035078 | associated_with | renin,kidney failure |
49#54#gene5972160#180#diseaseC0265783 | 21903317-1#49#54#gene5972 | 21903317-1#160#180#diseaseC0265783 | associated_with | renin,pulmonary hypoplasia |
49#54#gene597267#91#diseaseC0266313 | 21903317-1#49#54#gene5972 | 21903317-1#67#91#diseaseC0266313 | associated_with | renin,renal tubular dysgenesis |
49#54#gene5972141#155#diseaseC0035078 | 21903317-1#49#54#gene5972 | 21903317-1#141#155#diseaseC0035078 | associated_with | renin,kidney failure |
49#54#gene5972160#180#diseaseC0265783 | 21903317-1#49#54#gene5972 | 21903317-1#160#180#diseaseC0265783 | associated_with | renin,pulmonary hypoplasia |
56#59#gene597267#91#diseaseC0266313 | 21903317-1#56#59#gene5972 | 21903317-1#67#91#diseaseC0266313 | associated_with | REN,renal tubular dysgenesis |
56#59#gene5972141#155#diseaseC0035078 | 21903317-1#56#59#gene5972 | 21903317-1#141#155#diseaseC0035078 | associated_with | REN,kidney failure |
56#59#gene5972160#180#diseaseC0265783 | 21903317-1#56#59#gene5972 | 21903317-1#160#180#diseaseC0265783 | associated_with | REN,pulmonary hypoplasia |
56#59#gene597267#91#diseaseC0266313 | 21903317-1#56#59#gene5972 | 21903317-1#67#91#diseaseC0266313 | associated_with | REN,renal tubular dysgenesis |
56#59#gene5972141#155#diseaseC0035078 | 21903317-1#56#59#gene5972 | 21903317-1#141#155#diseaseC0035078 | associated_with | REN,kidney failure |
56#59#gene5972160#180#diseaseC0265783 | 21903317-1#56#59#gene5972 | 21903317-1#160#180#diseaseC0265783 | associated_with | REN,pulmonary hypoplasia |
119#122#gene5972155#168#diseaseC0740394 | 21903317-10#119#122#gene5972 | 21903317-10#155#168#diseaseC0740394 | associated_with | REN,hyperuricemia |
138#142#gene736982#85#diseaseC1561643 | 21903317-5#138#142#gene7369 | 21903317-5#82#85#diseaseC1561643 | associated_with | UMOD,CKD |
138#142#gene736964#77#diseaseC0740394 | 21903317-5#138#142#gene7369 | 21903317-5#64#77#diseaseC0740394 | associated_with | UMOD,hyperuricemia |
138#142#gene736982#85#diseaseC1561643 | 21903317-5#138#142#gene7369 | 21903317-5#82#85#diseaseC1561643 | associated_with | UMOD,CKD |
138#142#gene736964#77#diseaseC0740394 | 21903317-5#138#142#gene7369 | 21903317-5#64#77#diseaseC0740394 | associated_with | UMOD,hyperuricemia |
138#142#gene736982#85#diseaseC1561643 | 21903317-5#138#142#gene7369 | 21903317-5#82#85#diseaseC1561643 | associated_with | UMOD,CKD |
138#142#gene736964#77#diseaseC0740394 | 21903317-5#138#142#gene7369 | 21903317-5#64#77#diseaseC0740394 | associated_with | UMOD,hyperuricemia |
138#142#gene736982#85#diseaseC1561643 | 21903317-5#138#142#gene7369 | 21903317-5#82#85#diseaseC1561643 | associated_with | UMOD,CKD |
144#154#gene736982#85#diseaseC1561643 | 21903317-5#144#154#gene7369 | 21903317-5#82#85#diseaseC1561643 | associated_with | uromodulin,CKD |
144#154#gene736964#77#diseaseC0740394 | 21903317-5#144#154#gene7369 | 21903317-5#64#77#diseaseC0740394 | associated_with | uromodulin,hyperuricemia |
144#154#gene736982#85#diseaseC1561643 | 21903317-5#144#154#gene7369 | 21903317-5#82#85#diseaseC1561643 | associated_with | uromodulin,CKD |
144#154#gene736964#77#diseaseC0740394 | 21903317-5#144#154#gene7369 | 21903317-5#64#77#diseaseC0740394 | associated_with | uromodulin,hyperuricemia |
144#154#gene736982#85#diseaseC1561643 | 21903317-5#144#154#gene7369 | 21903317-5#82#85#diseaseC1561643 | associated_with | uromodulin,CKD |
144#154#gene736964#77#diseaseC0740394 | 21903317-5#144#154#gene7369 | 21903317-5#64#77#diseaseC0740394 | associated_with | uromodulin,hyperuricemia |
144#154#gene736982#85#diseaseC1561643 | 21903317-5#144#154#gene7369 | 21903317-5#82#85#diseaseC1561643 | associated_with | uromodulin,CKD |
160#165#gene692882#85#diseaseC1561643 | 21903317-5#160#165#gene6928 | 21903317-5#82#85#diseaseC1561643 | associated_with | HNF1B,CKD |
160#165#gene692864#77#diseaseC0740394 | 21903317-5#160#165#gene6928 | 21903317-5#64#77#diseaseC0740394 | associated_with | HNF1B,hyperuricemia |
160#165#gene692882#85#diseaseC1561643 | 21903317-5#160#165#gene6928 | 21903317-5#82#85#diseaseC1561643 | associated_with | HNF1B,CKD |
160#165#gene692864#77#diseaseC0740394 | 21903317-5#160#165#gene6928 | 21903317-5#64#77#diseaseC0740394 | associated_with | HNF1B,hyperuricemia |
160#165#gene692882#85#diseaseC1561643 | 21903317-5#160#165#gene6928 | 21903317-5#82#85#diseaseC1561643 | associated_with | HNF1B,CKD |
160#165#gene692864#77#diseaseC0740394 | 21903317-5#160#165#gene6928 | 21903317-5#64#77#diseaseC0740394 | associated_with | HNF1B,hyperuricemia |
160#165#gene692882#85#diseaseC1561643 | 21903317-5#160#165#gene6928 | 21903317-5#82#85#diseaseC1561643 | associated_with | HNF1B,CKD |
167#195#gene692882#85#diseaseC1561643 | 21903317-5#167#195#gene6928 | 21903317-5#82#85#diseaseC1561643 | associated_with | hepatocyte nuclear factor 1β,CKD |
167#195#gene692864#77#diseaseC0740394 | 21903317-5#167#195#gene6928 | 21903317-5#64#77#diseaseC0740394 | associated_with | hepatocyte nuclear factor 1β,hyperuricemia |
167#195#gene692882#85#diseaseC1561643 | 21903317-5#167#195#gene6928 | 21903317-5#82#85#diseaseC1561643 | associated_with | hepatocyte nuclear factor 1β,CKD |
167#195#gene692864#77#diseaseC0740394 | 21903317-5#167#195#gene6928 | 21903317-5#64#77#diseaseC0740394 | associated_with | hepatocyte nuclear factor 1β,hyperuricemia |
167#195#gene692882#85#diseaseC1561643 | 21903317-5#167#195#gene6928 | 21903317-5#82#85#diseaseC1561643 | associated_with | hepatocyte nuclear factor 1β,CKD |
167#195#gene692864#77#diseaseC0740394 | 21903317-5#167#195#gene6928 | 21903317-5#64#77#diseaseC0740394 | associated_with | hepatocyte nuclear factor 1β,hyperuricemia |
167#195#gene692882#85#diseaseC1561643 | 21903317-5#167#195#gene6928 | 21903317-5#82#85#diseaseC1561643 | associated_with | hepatocyte nuclear factor 1β,CKD |
UBERON-AE
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
PD-UBERON-AE-B_T1 | 250-256 | http://purl.obolibrary.org/obo/UBERON_0002113 | denotes | kidney |
PD-UBERON-AE-B_T2 | 544-550 | http://purl.obolibrary.org/obo/UBERON_0002113 | denotes | kidney |
PD-UBERON-AE-B_T3 | 1416-1422 | http://purl.obolibrary.org/obo/UBERON_0002113 | denotes | kidney |
PubCasesHPO
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
TI1 | 77-83 | HP:0001903 | denotes | anemia |
TI2 | 85-98 | HP:0002149 | denotes | hyperuricemia |
AB1 | 269-289 | HP:0002089 | denotes | pulmonary hypoplasia |
AB2 | 509-522 | HP:0002149 | denotes | hyperuricemia |
AB3 | 524-530 | HP:0001903 | denotes | anemia |
AB4 | 536-558 | HP:0012622 | denotes | chronic kidney disease |
AB5 | 704-717 | HP:0002149 | denotes | hyperuricemia |
AB6 | 1319-1325 | HP:0001903 | denotes | anemia |
AB7 | 1327-1340 | HP:0002149 | denotes | hyperuricemia |
AB8 | 1351-1357 | HP:0001903 | denotes | Anemia |
AB9 | 1588-1601 | HP:0002149 | denotes | hyperuricemia |
AB10 | 1606-1612 | HP:0001903 | denotes | anemia |
PubCasesORDO
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
AB1 | 176-200 | ORDO:3033 | denotes | renal tubular dysgenesis |
performance-test
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
PD-UBERON-AE-B_T1 | 250-256 | http://purl.obolibrary.org/obo/UBERON_0002113 | denotes | kidney |
PD-UBERON-AE-B_T2 | 544-550 | http://purl.obolibrary.org/obo/UBERON_0002113 | denotes | kidney |
PD-UBERON-AE-B_T3 | 1416-1422 | http://purl.obolibrary.org/obo/UBERON_0002113 | denotes | kidney |
tmVarCorpus
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 1075-1082 | DNAMutation:c|SUB|T|28|C | denotes | c.28T>C |
T2 | 1084-1090 | ProteinMutation:p|SUB|W|10|R | denotes | p.W10R |