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LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-100 Sentence denotes Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
T2 101-112 Sentence denotes BACKGROUND:
T3 113-267 Sentence denotes Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults.
T4 268-323 Sentence denotes Mutations in nine genes (NPHP1-9) have been identified.
T5 324-471 Sentence denotes NPHP can be associated with retinal degeneration (Senior-Løken syndrome), brainstem and cerebellar anomalies (Joubert syndrome), or liver fibrosis.
T6 472-480 Sentence denotes METHODS:
T7 481-727 Sentence denotes To identify a causative gene for the subset of patients with associated liver fibrosis, the authors performed a genome wide linkage search in a consanguineous family with three affected patients using 50K SNP microarrays and homozygosity mapping.
T8 728-736 Sentence denotes RESULTS:
T9 737-927 Sentence denotes The authors obtained a significant maximum parametric LOD (logarithm of odds) score of Z(max) = 3.72 on chromosome 8q22 and identified a homozygous missense mutation in the gene MKS3/TMEM67.
T10 928-1132 Sentence denotes When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them.
T11 1133-1288 Sentence denotes Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations.
T12 1289-1417 Sentence denotes In contrast, the mutations detected here in patients with NPHP and associated liver fibrosis are exclusively missense mutations.
T13 1418-1559 Sentence denotes This suggests that they may represent hypomorphic alleles, leading to a milder phenotype compared with the more severe MKS or JBTS phenotype.
T14 1560-1758 Sentence denotes Additionally, mutation analysis for MKS3/TMEM67 in 120 patients with JBTS yielded seven different (four novel) mutations in five patients, four of whom also presented with congenital liver fibrosis.
T15 1759-1771 Sentence denotes CONCLUSIONS:
T16 1772-1846 Sentence denotes Hypomorphic MKS3/TMEM67 mutations cause NPHP with liver fibrosis (NPHP11).
T17 1847-1958 Sentence denotes This is the first report of MKS3 mutations in patients with no vermian agenesis and without neurological signs.
T18 1959-2012 Sentence denotes Thus NPHP, JBTS, and MKS represent allelic disorders.

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
6142 25-33 GeneOrGeneProduct denotes meckelin NCBIGene:91147
6143 35-39 GeneOrGeneProduct denotes MKS3 NCBIGene:91147
6144 40-46 GeneOrGeneProduct denotes TMEM67 NCBIGene:91147
6145 54-90 DiseaseOrPhenotypicFeature denotes nephronophthisis with liver fibrosis OMIM:613550
6146 92-98 DiseaseOrPhenotypicFeature denotes NPHP11 OMIM:613550
6147 113-129 DiseaseOrPhenotypicFeature denotes Nephronophthisis MESH:C537699
6148 131-135 DiseaseOrPhenotypicFeature denotes NPHP MESH:C537699
6149 155-176 DiseaseOrPhenotypicFeature denotes cystic kidney disease MESH:D052177
6150 216-237 DiseaseOrPhenotypicFeature denotes chronic renal failure MESH:D007676
6151 293-300 GeneOrGeneProduct denotes NPHP1-9 NCBIGene:23322|NCBIGene:261734|NCBIGene:27031|NCBIGene:27130|NCBIGene:284086|NCBIGene:4867|NCBIGene:80184|NCBIGene:84662|NCBIGene:9657
6152 324-328 DiseaseOrPhenotypicFeature denotes NPHP MESH:C537699
6153 352-372 DiseaseOrPhenotypicFeature denotes retinal degeneration MESH:D012162
6154 374-395 DiseaseOrPhenotypicFeature denotes Senior-Løken syndrome MESH:C537580
6155 412-432 DiseaseOrPhenotypicFeature denotes cerebellar anomalies MESH:D002526
6156 434-450 DiseaseOrPhenotypicFeature denotes Joubert syndrome MESH:C536293
6157 456-470 DiseaseOrPhenotypicFeature denotes liver fibrosis MESH:D008103
6158 528-536 OrganismTaxon denotes patients NCBITaxon:9606
6159 553-567 DiseaseOrPhenotypicFeature denotes liver fibrosis MESH:D008103
6160 667-675 OrganismTaxon denotes patients NCBITaxon:9606
6161 915-919 GeneOrGeneProduct denotes MKS3 NCBIGene:91147
6162 920-926 GeneOrGeneProduct denotes TMEM67 NCBIGene:91147
6163 980-988 OrganismTaxon denotes patients NCBITaxon:9606
6164 994-998 DiseaseOrPhenotypicFeature denotes NPHP MESH:C537699
6165 1014-1028 DiseaseOrPhenotypicFeature denotes liver fibrosis MESH:D008103
6166 1076-1083 SequenceVariant denotes p.W290L DBSNP:rs267607117
6167 1085-1092 SequenceVariant denotes p.C615R DBSNP:rs201893408
6168 1094-1101 SequenceVariant denotes p.G821S DBSNP:rs267607116
6169 1107-1114 SequenceVariant denotes p.G821R DBSNP:rs267607116
6170 1146-1150 GeneOrGeneProduct denotes MKS3 NCBIGene:91147
6171 1151-1157 GeneOrGeneProduct denotes TMEM67 NCBIGene:91147
6172 1177-1212 DiseaseOrPhenotypicFeature denotes Meckel-Gruber syndrome (MKS) type 3 MESH:C536132
6173 1217-1247 DiseaseOrPhenotypicFeature denotes Joubert syndrome (JBTS) type 6 MESH:C537689
6174 1333-1341 OrganismTaxon denotes patients NCBITaxon:9606
6175 1347-1351 DiseaseOrPhenotypicFeature denotes NPHP MESH:C537699
6176 1367-1381 DiseaseOrPhenotypicFeature denotes liver fibrosis MESH:D008103
6177 1537-1540 DiseaseOrPhenotypicFeature denotes MKS MESH:C536133
6178 1544-1548 DiseaseOrPhenotypicFeature denotes JBTS MESH:C536293
6179 1596-1600 GeneOrGeneProduct denotes MKS3 NCBIGene:91147
6180 1601-1607 GeneOrGeneProduct denotes TMEM67 NCBIGene:91147
6181 1615-1623 OrganismTaxon denotes patients NCBITaxon:9606
6182 1629-1633 DiseaseOrPhenotypicFeature denotes JBTS MESH:C536293
6183 1689-1697 OrganismTaxon denotes patients NCBITaxon:9606
6184 1743-1757 DiseaseOrPhenotypicFeature denotes liver fibrosis MESH:D008103
6185 1784-1788 GeneOrGeneProduct denotes MKS3 NCBIGene:91147
6186 1789-1795 GeneOrGeneProduct denotes TMEM67 NCBIGene:91147
6187 1812-1836 DiseaseOrPhenotypicFeature denotes NPHP with liver fibrosis OMIM:613550
6188 1838-1844 DiseaseOrPhenotypicFeature denotes NPHP11 OMIM:613550
6189 1875-1879 GeneOrGeneProduct denotes MKS3 NCBIGene:91147
6190 1893-1901 OrganismTaxon denotes patients NCBITaxon:9606
6191 1964-1968 DiseaseOrPhenotypicFeature denotes NPHP MESH:C537699
6192 1970-1974 DiseaseOrPhenotypicFeature denotes JBTS MESH:C536293
6193 1980-1983 DiseaseOrPhenotypicFeature denotes MKS MESH:C536133
6194 1994-2011 DiseaseOrPhenotypicFeature denotes allelic disorders MESH:D030342

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 54-70 DiseaseOrPhenotypicFeature denotes nephronophthisis 0019005
T2 113-129 DiseaseOrPhenotypicFeature denotes Nephronophthisis 0019005
T3 140-144 DiseaseOrPhenotypicFeature denotes rare 0021136
T4 155-176 DiseaseOrPhenotypicFeature denotes cystic kidney disease 0002473
T5 162-176 DiseaseOrPhenotypicFeature denotes kidney disease 0005240
T6 352-372 DiseaseOrPhenotypicFeature denotes retinal degeneration 0004580
T7 374-395 DiseaseOrPhenotypicFeature denotes Senior-Løken syndrome 0017842
T8 434-450 DiseaseOrPhenotypicFeature denotes Joubert syndrome 0018772
T9 780-790 DiseaseOrPhenotypicFeature denotes parametric 0006887
T10 1211-1233 DiseaseOrPhenotypicFeature denotes 3 and Joubert syndrome 0012078
T11 1217-1233 DiseaseOrPhenotypicFeature denotes Joubert syndrome 0018772
T12 1732-1742 DiseaseOrPhenotypicFeature denotes congenital 0021140

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 682-685 SequenceVariant denotes 50K
T2 1076-1083 SequenceVariant denotes p.W290L
T3 1085-1092 SequenceVariant denotes p.C615R
T4 1094-1101 SequenceVariant denotes p.G821S
T5 1107-1114 SequenceVariant denotes p.G821R

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 12-21 GeneOrGeneProduct denotes mutations
T2 25-33 GeneOrGeneProduct denotes meckelin
T3 35-39 GeneOrGeneProduct denotes MKS3
T4 40-46 GeneOrGeneProduct denotes TMEM67
T5 76-81 GeneOrGeneProduct denotes liver
T6 92-98 GeneOrGeneProduct denotes NPHP11
T7 140-144 GeneOrGeneProduct denotes rare
T8 155-161 GeneOrGeneProduct denotes cystic
T9 162-168 GeneOrGeneProduct denotes kidney
T10 254-259 GeneOrGeneProduct denotes young
T11 268-277 GeneOrGeneProduct denotes Mutations
T12 281-285 GeneOrGeneProduct denotes nine
T13 293-298 GeneOrGeneProduct denotes NPHP1
T14 352-359 GeneOrGeneProduct denotes retinal
T15 387-395 GeneOrGeneProduct denotes syndrome
T16 442-450 GeneOrGeneProduct denotes syndrome
T17 456-461 GeneOrGeneProduct denotes liver
T18 472-479 GeneOrGeneProduct denotes METHODS
T19 553-558 GeneOrGeneProduct denotes liver
T20 620-624 GeneOrGeneProduct denotes in a
T21 824-830 GeneOrGeneProduct denotes Z(max)
T22 885-893 GeneOrGeneProduct denotes missense
T23 894-902 GeneOrGeneProduct denotes mutation
T24 915-919 GeneOrGeneProduct denotes MKS3
T25 920-926 GeneOrGeneProduct denotes TMEM67
T26 1014-1019 GeneOrGeneProduct denotes liver
T27 1059-1064 GeneOrGeneProduct denotes novel
T28 1065-1074 GeneOrGeneProduct denotes mutations
T29 1127-1131 GeneOrGeneProduct denotes them
T30 1133-1142 GeneOrGeneProduct denotes Mutations
T31 1146-1150 GeneOrGeneProduct denotes MKS3
T32 1151-1157 GeneOrGeneProduct denotes TMEM67
T33 1191-1199 GeneOrGeneProduct denotes syndrome
T34 1211-1216 GeneOrGeneProduct denotes 3 and
T35 1225-1233 GeneOrGeneProduct denotes syndrome
T36 1267-1277 GeneOrGeneProduct denotes truncating
T37 1278-1287 GeneOrGeneProduct denotes mutations
T38 1292-1300 GeneOrGeneProduct denotes contrast
T39 1306-1315 GeneOrGeneProduct denotes mutations
T40 1367-1372 GeneOrGeneProduct denotes liver
T41 1398-1406 GeneOrGeneProduct denotes missense
T42 1407-1416 GeneOrGeneProduct denotes mutations
T43 1574-1582 GeneOrGeneProduct denotes mutation
T44 1596-1600 GeneOrGeneProduct denotes MKS3
T45 1601-1607 GeneOrGeneProduct denotes TMEM67
T46 1634-1641 GeneOrGeneProduct denotes yielded
T47 1664-1669 GeneOrGeneProduct denotes novel
T48 1671-1680 GeneOrGeneProduct denotes mutations
T49 1743-1748 GeneOrGeneProduct denotes liver
T50 1784-1788 GeneOrGeneProduct denotes MKS3
T51 1789-1795 GeneOrGeneProduct denotes TMEM67
T52 1796-1805 GeneOrGeneProduct denotes mutations
T53 1822-1827 GeneOrGeneProduct denotes liver
T54 1838-1844 GeneOrGeneProduct denotes NPHP11
T55 1875-1879 GeneOrGeneProduct denotes MKS3
T56 1880-1889 GeneOrGeneProduct denotes mutations

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 25-33 GeneOrGeneProduct denotes meckelin
T2 35-39 GeneOrGeneProduct denotes MKS3
T3 40-46 GeneOrGeneProduct denotes TMEM67
T4 76-81 GeneOrGeneProduct denotes liver
T5 92-98 GeneOrGeneProduct denotes NPHP11
T6 140-144 GeneOrGeneProduct denotes rare
T7 155-161 GeneOrGeneProduct denotes cystic
T8 162-168 GeneOrGeneProduct denotes kidney
T9 254-259 GeneOrGeneProduct denotes young
T10 293-298 GeneOrGeneProduct denotes NPHP1
T11 387-395 GeneOrGeneProduct denotes syndrome
T12 442-450 GeneOrGeneProduct denotes syndrome
T13 456-461 GeneOrGeneProduct denotes liver
T14 553-558 GeneOrGeneProduct denotes liver
T15 915-919 GeneOrGeneProduct denotes MKS3
T16 920-926 GeneOrGeneProduct denotes TMEM67
T17 1014-1019 GeneOrGeneProduct denotes liver
T18 1059-1064 GeneOrGeneProduct denotes novel
T19 1146-1150 GeneOrGeneProduct denotes MKS3
T20 1151-1157 GeneOrGeneProduct denotes TMEM67
T21 1191-1199 GeneOrGeneProduct denotes syndrome
T22 1225-1233 GeneOrGeneProduct denotes syndrome
T23 1367-1372 GeneOrGeneProduct denotes liver
T24 1596-1600 GeneOrGeneProduct denotes MKS3
T25 1601-1607 GeneOrGeneProduct denotes TMEM67
T26 1664-1669 GeneOrGeneProduct denotes novel
T27 1743-1748 GeneOrGeneProduct denotes liver
T28 1784-1788 GeneOrGeneProduct denotes MKS3
T29 1789-1795 GeneOrGeneProduct denotes TMEM67
T30 1822-1827 GeneOrGeneProduct denotes liver
T31 1838-1844 GeneOrGeneProduct denotes NPHP11
T32 1875-1879 GeneOrGeneProduct denotes MKS3

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 76-90 DiseaseOrPhenotypicFeature denotes liver fibrosis D008103
T2 155-176 DiseaseOrPhenotypicFeature denotes cystic kidney disease D052177
T3 216-237 DiseaseOrPhenotypicFeature denotes chronic renal failure D007676
T4 352-372 DiseaseOrPhenotypicFeature denotes retinal degeneration D012162
T5 374-395 DiseaseOrPhenotypicFeature denotes Senior-Løken syndrome C537580
T6 434-450 DiseaseOrPhenotypicFeature denotes Joubert syndrome C536293
T7 456-470 DiseaseOrPhenotypicFeature denotes liver fibrosis D008103
T8 553-567 DiseaseOrPhenotypicFeature denotes liver fibrosis D008103
T9 780-790 DiseaseOrPhenotypicFeature denotes parametric D010249
T10 1014-1028 DiseaseOrPhenotypicFeature denotes liver fibrosis D008103
T11 1184-1199 DiseaseOrPhenotypicFeature denotes Gruber syndrome C536133
T12 1201-1204 DiseaseOrPhenotypicFeature denotes MKS C536133
T13 1217-1233 DiseaseOrPhenotypicFeature denotes Joubert syndrome C536293
T14 1235-1239 DiseaseOrPhenotypicFeature denotes JBTS C536293
T15 1367-1381 DiseaseOrPhenotypicFeature denotes liver fibrosis D008103
T16 1537-1540 DiseaseOrPhenotypicFeature denotes MKS C536133
T17 1544-1548 DiseaseOrPhenotypicFeature denotes JBTS C536293
T18 1629-1633 DiseaseOrPhenotypicFeature denotes JBTS C536293
T19 1743-1757 DiseaseOrPhenotypicFeature denotes liver fibrosis D008103
T20 1822-1836 DiseaseOrPhenotypicFeature denotes liver fibrosis D008103
T21 1939-1957 DiseaseOrPhenotypicFeature denotes neurological signs D009461
T22 1970-1974 DiseaseOrPhenotypicFeature denotes JBTS C536293
T23 1980-1983 DiseaseOrPhenotypicFeature denotes MKS C536133

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 25-33 GeneOrGeneProduct denotes meckelin
T2 35-39 GeneOrGeneProduct denotes MKS3
T3 40-46 GeneOrGeneProduct denotes TMEM67
T4 293-298 GeneOrGeneProduct denotes NPHP1
T5 915-919 GeneOrGeneProduct denotes MKS3
T6 920-926 GeneOrGeneProduct denotes TMEM67
T7 1146-1150 GeneOrGeneProduct denotes MKS3
T8 1151-1157 GeneOrGeneProduct denotes TMEM67
T9 1596-1600 GeneOrGeneProduct denotes MKS3
T10 1601-1607 GeneOrGeneProduct denotes TMEM67
T11 1784-1788 GeneOrGeneProduct denotes MKS3
T12 1789-1795 GeneOrGeneProduct denotes TMEM67
T13 1875-1879 GeneOrGeneProduct denotes MKS3

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 35-39 DiseaseOrPhenotypicFeature denotes MKS3 0011821
T2 54-70 DiseaseOrPhenotypicFeature denotes nephronophthisis 0019005
T3 92-98 DiseaseOrPhenotypicFeature denotes NPHP11 0013302
T4 113-129 DiseaseOrPhenotypicFeature denotes Nephronophthisis 0019005
T5 131-135 DiseaseOrPhenotypicFeature denotes NPHP 0019005
T6 155-176 DiseaseOrPhenotypicFeature denotes cystic kidney disease 0002473
T7 216-237 DiseaseOrPhenotypicFeature denotes chronic renal failure 0024327
T8 293-300 DiseaseOrPhenotypicFeature denotes NPHP1-9 0014537
T9 324-328 DiseaseOrPhenotypicFeature denotes NPHP 0019005
T10 329-332 DiseaseOrPhenotypicFeature denotes can 0012833
T11 352-372 DiseaseOrPhenotypicFeature denotes retinal degeneration 0004580
T12 374-395 DiseaseOrPhenotypicFeature denotes Senior-Løken syndrome 0017842|0009962
T14 434-450 DiseaseOrPhenotypicFeature denotes Joubert syndrome 0018772|0008944
T16 915-919 DiseaseOrPhenotypicFeature denotes MKS3 0011821
T17 994-998 DiseaseOrPhenotypicFeature denotes NPHP 0019005
T18 1146-1150 DiseaseOrPhenotypicFeature denotes MKS3 0011821
T19 1177-1199 DiseaseOrPhenotypicFeature denotes Meckel-Gruber syndrome 0018921|0009571
T21 1201-1204 DiseaseOrPhenotypicFeature denotes MKS 0009571|0018921
T23 1217-1233 DiseaseOrPhenotypicFeature denotes Joubert syndrome 0018772|0008944
T25 1235-1239 DiseaseOrPhenotypicFeature denotes JBTS 0018772
T26 1347-1351 DiseaseOrPhenotypicFeature denotes NPHP 0019005
T27 1537-1540 DiseaseOrPhenotypicFeature denotes MKS 0009571|0018921
T29 1544-1548 DiseaseOrPhenotypicFeature denotes JBTS 0018772
T30 1596-1600 DiseaseOrPhenotypicFeature denotes MKS3 0011821
T31 1629-1633 DiseaseOrPhenotypicFeature denotes JBTS 0018772
T32 1784-1788 DiseaseOrPhenotypicFeature denotes MKS3 0011821
T33 1812-1816 DiseaseOrPhenotypicFeature denotes NPHP 0019005
T34 1838-1844 DiseaseOrPhenotypicFeature denotes NPHP11 0013302
T35 1875-1879 DiseaseOrPhenotypicFeature denotes MKS3 0011821
T36 1964-1968 DiseaseOrPhenotypicFeature denotes NPHP 0019005
T37 1970-1974 DiseaseOrPhenotypicFeature denotes JBTS 0018772
T38 1980-1983 DiseaseOrPhenotypicFeature denotes MKS 0009571|0018921

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 54-90 DiseaseOrPhenotypicFeature denotes nephronophthisis with liver fibrosis DISEASE
T2 92-98 DiseaseOrPhenotypicFeature denotes NPHP11 DISEASE
T3 113-129 DiseaseOrPhenotypicFeature denotes Nephronophthisis DISEASE
T4 131-135 DiseaseOrPhenotypicFeature denotes NPHP DISEASE
T5 155-176 DiseaseOrPhenotypicFeature denotes cystic kidney disease D052177
T6 216-237 DiseaseOrPhenotypicFeature denotes chronic renal failure D007676
T7 324-328 DiseaseOrPhenotypicFeature denotes NPHP DISEASE
T8 352-372 DiseaseOrPhenotypicFeature denotes retinal degeneration D012162
T9 374-395 DiseaseOrPhenotypicFeature denotes Senior-Løken syndrome C537580
T10 412-432 DiseaseOrPhenotypicFeature denotes cerebellar anomalies DISEASE
T11 434-450 DiseaseOrPhenotypicFeature denotes Joubert syndrome C536293
T12 456-470 DiseaseOrPhenotypicFeature denotes liver fibrosis D008103
T13 553-567 DiseaseOrPhenotypicFeature denotes liver fibrosis D008103
T14 994-998 DiseaseOrPhenotypicFeature denotes NPHP DISEASE
T15 1014-1028 DiseaseOrPhenotypicFeature denotes liver fibrosis D008103
T16 1177-1212 DiseaseOrPhenotypicFeature denotes Meckel-Gruber syndrome (MKS) type 3 DISEASE
T17 1217-1233 DiseaseOrPhenotypicFeature denotes Joubert syndrome C536293
T18 1235-1239 DiseaseOrPhenotypicFeature denotes JBTS C536293
T19 1347-1351 DiseaseOrPhenotypicFeature denotes NPHP DISEASE
T20 1367-1381 DiseaseOrPhenotypicFeature denotes liver fibrosis D008103
T21 1544-1548 DiseaseOrPhenotypicFeature denotes JBTS C536293
T22 1629-1633 DiseaseOrPhenotypicFeature denotes JBTS C536293
T23 1743-1757 DiseaseOrPhenotypicFeature denotes liver fibrosis D008103
T24 1812-1816 DiseaseOrPhenotypicFeature denotes NPHP DISEASE
T25 1822-1836 DiseaseOrPhenotypicFeature denotes liver fibrosis D008103
T26 1838-1844 DiseaseOrPhenotypicFeature denotes NPHP11 DISEASE
T27 1939-1957 DiseaseOrPhenotypicFeature denotes neurological signs D009461
T28 1964-1968 DiseaseOrPhenotypicFeature denotes NPHP DISEASE
T29 1970-1974 DiseaseOrPhenotypicFeature denotes JBTS C536293
T30 1994-2011 DiseaseOrPhenotypicFeature denotes allelic disorders DISEASE

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 54-90 DiseaseOrPhenotypicFeature denotes nephronophthisis with liver fibrosis DISEASE
T2 92-98 DiseaseOrPhenotypicFeature denotes NPHP11 DISEASE
T3 113-129 DiseaseOrPhenotypicFeature denotes Nephronophthisis DISEASE
T4 131-135 DiseaseOrPhenotypicFeature denotes NPHP DISEASE
T5 155-176 DiseaseOrPhenotypicFeature denotes cystic kidney disease D052177
T6 216-237 DiseaseOrPhenotypicFeature denotes chronic renal failure D007676
T7 324-328 DiseaseOrPhenotypicFeature denotes NPHP DISEASE
T8 352-372 DiseaseOrPhenotypicFeature denotes retinal degeneration D012162
T9 374-395 DiseaseOrPhenotypicFeature denotes Senior-Løken syndrome C537580
T10 412-432 DiseaseOrPhenotypicFeature denotes cerebellar anomalies DISEASE
T11 434-450 DiseaseOrPhenotypicFeature denotes Joubert syndrome C536293
T12 456-470 DiseaseOrPhenotypicFeature denotes liver fibrosis D008103
T13 553-567 DiseaseOrPhenotypicFeature denotes liver fibrosis D008103
T14 994-998 DiseaseOrPhenotypicFeature denotes NPHP DISEASE
T15 1014-1028 DiseaseOrPhenotypicFeature denotes liver fibrosis D008103
T16 1177-1212 DiseaseOrPhenotypicFeature denotes Meckel-Gruber syndrome (MKS) type 3 DISEASE
T17 1217-1233 DiseaseOrPhenotypicFeature denotes Joubert syndrome C536293
T18 1235-1239 DiseaseOrPhenotypicFeature denotes JBTS C536293
T19 1347-1351 DiseaseOrPhenotypicFeature denotes NPHP DISEASE
T20 1367-1381 DiseaseOrPhenotypicFeature denotes liver fibrosis D008103
T21 1544-1548 DiseaseOrPhenotypicFeature denotes JBTS C536293
T22 1629-1633 DiseaseOrPhenotypicFeature denotes JBTS C536293
T23 1743-1757 DiseaseOrPhenotypicFeature denotes liver fibrosis D008103
T24 1812-1816 DiseaseOrPhenotypicFeature denotes NPHP DISEASE
T25 1822-1836 DiseaseOrPhenotypicFeature denotes liver fibrosis D008103
T26 1838-1844 DiseaseOrPhenotypicFeature denotes NPHP11 DISEASE
T27 1939-1957 DiseaseOrPhenotypicFeature denotes neurological signs D009461
T28 1964-1968 DiseaseOrPhenotypicFeature denotes NPHP DISEASE
T29 1970-1974 DiseaseOrPhenotypicFeature denotes JBTS C536293
T30 1994-2011 DiseaseOrPhenotypicFeature denotes allelic disorders DISEASE

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 528-536 OrganismTaxon denotes patients
T2 667-675 OrganismTaxon denotes patients
T3 980-988 OrganismTaxon denotes patients
T4 1333-1341 OrganismTaxon denotes patients
T5 1615-1623 OrganismTaxon denotes patients
T6 1689-1697 OrganismTaxon denotes patients
T7 1893-1901 OrganismTaxon denotes patients

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 352-359 ChemicalEntity denotes retinal D012172|http://purl.obolibrary.org/obo/CHEBI_15035

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T1 352-359 ChemicalEntity denotes retinal http://purl.obolibrary.org/obo/CHEBI_15035|D012172
T13 1875-1879 GeneOrGeneProduct denotes MKS3
T12 1789-1795 GeneOrGeneProduct denotes TMEM67
T11 1784-1788 GeneOrGeneProduct denotes MKS3
T10 1601-1607 GeneOrGeneProduct denotes TMEM67
T9 1596-1600 GeneOrGeneProduct denotes MKS3
T8 1151-1157 GeneOrGeneProduct denotes TMEM67
T7 1146-1150 GeneOrGeneProduct denotes MKS3
T6 920-926 GeneOrGeneProduct denotes TMEM67
T5 915-919 GeneOrGeneProduct denotes MKS3
T4 293-298 GeneOrGeneProduct denotes NPHP1
T3 40-46 GeneOrGeneProduct denotes TMEM67
T2 35-39 GeneOrGeneProduct denotes MKS3
T64661 25-33 GeneOrGeneProduct denotes meckelin
T30 1994-2011 DiseaseOrPhenotypicFeature denotes allelic disorders DISEASE
T29 1970-1974 DiseaseOrPhenotypicFeature denotes JBTS C536293
T28 1964-1968 DiseaseOrPhenotypicFeature denotes NPHP DISEASE
T27 1939-1957 DiseaseOrPhenotypicFeature denotes neurological signs D009461
T26 1838-1844 DiseaseOrPhenotypicFeature denotes NPHP11 DISEASE
T25 1822-1836 DiseaseOrPhenotypicFeature denotes liver fibrosis D008103
T24 1812-1816 DiseaseOrPhenotypicFeature denotes NPHP DISEASE
T23 1743-1757 DiseaseOrPhenotypicFeature denotes liver fibrosis D008103
T22 1629-1633 DiseaseOrPhenotypicFeature denotes JBTS C536293
T21 1544-1548 DiseaseOrPhenotypicFeature denotes JBTS C536293
T20 1367-1381 DiseaseOrPhenotypicFeature denotes liver fibrosis D008103
T19 1347-1351 DiseaseOrPhenotypicFeature denotes NPHP DISEASE
T18 1235-1239 DiseaseOrPhenotypicFeature denotes JBTS C536293
T17 1217-1233 DiseaseOrPhenotypicFeature denotes Joubert syndrome C536293
T16 1177-1212 DiseaseOrPhenotypicFeature denotes Meckel-Gruber syndrome (MKS) type 3 DISEASE
T15 1014-1028 DiseaseOrPhenotypicFeature denotes liver fibrosis D008103
T14 994-998 DiseaseOrPhenotypicFeature denotes NPHP DISEASE
T986 553-567 DiseaseOrPhenotypicFeature denotes liver fibrosis D008103
T14919 456-470 DiseaseOrPhenotypicFeature denotes liver fibrosis D008103
T30106 434-450 DiseaseOrPhenotypicFeature denotes Joubert syndrome C536293
T65318 412-432 DiseaseOrPhenotypicFeature denotes cerebellar anomalies DISEASE
T94177 374-395 DiseaseOrPhenotypicFeature denotes Senior-Løken syndrome C537580
T10422 352-372 DiseaseOrPhenotypicFeature denotes retinal degeneration D012162
T4932 324-328 DiseaseOrPhenotypicFeature denotes NPHP DISEASE
T8225 216-237 DiseaseOrPhenotypicFeature denotes chronic renal failure D007676
T98124 155-176 DiseaseOrPhenotypicFeature denotes cystic kidney disease D052177
T10447 131-135 DiseaseOrPhenotypicFeature denotes NPHP DISEASE
T9127 113-129 DiseaseOrPhenotypicFeature denotes Nephronophthisis DISEASE
T81425 92-98 DiseaseOrPhenotypicFeature denotes NPHP11 DISEASE
T34225 54-90 DiseaseOrPhenotypicFeature denotes nephronophthisis with liver fibrosis DISEASE
T99740 1893-1901 OrganismTaxon denotes patients
T3915 1689-1697 OrganismTaxon denotes patients
T4254 1615-1623 OrganismTaxon denotes patients
T4619 1333-1341 OrganismTaxon denotes patients
T36750 980-988 OrganismTaxon denotes patients
T4697 667-675 OrganismTaxon denotes patients
T97851 528-536 OrganismTaxon denotes patients
T87155 1107-1114 SequenceVariant denotes p.G821R
T22638 1094-1101 SequenceVariant denotes p.G821S
T38269 1085-1092 SequenceVariant denotes p.C615R
T81668 1076-1083 SequenceVariant denotes p.W290L
T9842 682-685 SequenceVariant denotes 50K

DisGeNET

Id Subject Object Predicate Lexical cue
T0 40-46 gene:91147 denotes TMEM67
T1 92-98 disease:C0239946 denotes NPHP11
T2 40-46 gene:91147 denotes TMEM67
T3 76-90 disease:C0239946 denotes liver fibrosis
T4 40-46 gene:91147 denotes TMEM67
T5 54-70 disease:C0687120 denotes nephronophthisis
T6 35-39 gene:91147 denotes MKS3
T7 92-98 disease:C0239946 denotes NPHP11
T8 35-39 gene:91147 denotes MKS3
T9 54-70 disease:C0687120 denotes nephronophthisis
T10 35-39 gene:91147 denotes MKS3
T11 76-90 disease:C0239946 denotes liver fibrosis
T12 1151-1157 gene:91147 denotes TMEM67
T13 1235-1239 disease:C0431399 denotes JBTS
T14 1151-1157 gene:91147 denotes TMEM67
T15 1217-1233 disease:C0431399 denotes Joubert syndrome
T16 1151-1157 gene:91147 denotes TMEM67
T17 1177-1199 disease:C3714506 denotes Meckel-Gruber syndrome
T18 1151-1157 gene:91147 denotes TMEM67
T19 1177-1199 disease:C0265215 denotes Meckel-Gruber syndrome
R1 T0 T1 associated_with TMEM67,NPHP11
R2 T2 T3 associated_with TMEM67,liver fibrosis
R3 T4 T5 associated_with TMEM67,nephronophthisis
R4 T6 T7 associated_with MKS3,NPHP11
R5 T8 T9 associated_with MKS3,nephronophthisis
R6 T10 T11 associated_with MKS3,liver fibrosis
R7 T12 T13 associated_with TMEM67,JBTS
R8 T14 T15 associated_with TMEM67,Joubert syndrome
R9 T16 T17 associated_with TMEM67,Meckel-Gruber syndrome
R10 T18 T19 associated_with TMEM67,Meckel-Gruber syndrome

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
19508969-6#148#155#geners267607117 1076-1083 geners267607117 denotes p.W290L
19508969-6#86#100#diseaseC0239946 1014-1028 diseaseC0239946 denotes liver fibrosis
148#155#geners26760711786#100#diseaseC0239946 19508969-6#148#155#geners267607117 19508969-6#86#100#diseaseC0239946 associated_with p.W290L,liver fibrosis

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
19508969-0#35#39#gene91147 35-39 gene91147 denotes MKS3
19508969-0#40#46#gene91147 40-46 gene91147 denotes TMEM67
19508969-0#54#70#diseaseC0687120 54-70 diseaseC0687120 denotes nephronophthisis
19508969-0#76#90#diseaseC0239946 76-90 diseaseC0239946 denotes liver fibrosis
19508969-0#92#98#diseaseC3150796 92-98 diseaseC3150796 denotes NPHP11
19508969-0#54#70#diseaseC0687120 54-70 diseaseC0687120 denotes nephronophthisis
19508969-0#76#90#diseaseC0239946 76-90 diseaseC0239946 denotes liver fibrosis
19508969-0#92#98#diseaseC3150796 92-98 diseaseC3150796 denotes NPHP11
19508969-10#41#47#gene91147 1601-1607 gene91147 denotes TMEM67
19508969-10#69#73#diseaseC0431399 1629-1633 diseaseC0431399 denotes JBTS
19508969-10#172#197#diseaseC0009714 1732-1757 diseaseC0009714 denotes congenital liver fibrosis
19508969-12#28#32#gene91147 1875-1879 gene91147 denotes MKS3
19508969-12#71#79#diseaseC0000846 1918-1926 diseaseC0000846 denotes agenesis
19508969-7#18#24#gene91147 1151-1157 gene91147 denotes TMEM67
19508969-7#44#66#diseaseC3714506 1177-1199 diseaseC3714506 denotes Meckel-Gruber syndrome
19508969-7#68#71#diseaseC3714506 1201-1204 diseaseC3714506 denotes MKS
35#39#gene9114754#70#diseaseC0687120 19508969-0#35#39#gene91147 19508969-0#54#70#diseaseC0687120 associated_with MKS3,nephronophthisis
35#39#gene9114776#90#diseaseC0239946 19508969-0#35#39#gene91147 19508969-0#76#90#diseaseC0239946 associated_with MKS3,liver fibrosis
35#39#gene9114792#98#diseaseC3150796 19508969-0#35#39#gene91147 19508969-0#92#98#diseaseC3150796 associated_with MKS3,NPHP11
35#39#gene9114754#70#diseaseC0687120 19508969-0#35#39#gene91147 19508969-0#54#70#diseaseC0687120 associated_with MKS3,nephronophthisis
35#39#gene9114776#90#diseaseC0239946 19508969-0#35#39#gene91147 19508969-0#76#90#diseaseC0239946 associated_with MKS3,liver fibrosis
35#39#gene9114792#98#diseaseC3150796 19508969-0#35#39#gene91147 19508969-0#92#98#diseaseC3150796 associated_with MKS3,NPHP11
40#46#gene9114754#70#diseaseC0687120 19508969-0#40#46#gene91147 19508969-0#54#70#diseaseC0687120 associated_with TMEM67,nephronophthisis
40#46#gene9114776#90#diseaseC0239946 19508969-0#40#46#gene91147 19508969-0#76#90#diseaseC0239946 associated_with TMEM67,liver fibrosis
40#46#gene9114792#98#diseaseC3150796 19508969-0#40#46#gene91147 19508969-0#92#98#diseaseC3150796 associated_with TMEM67,NPHP11
40#46#gene9114754#70#diseaseC0687120 19508969-0#40#46#gene91147 19508969-0#54#70#diseaseC0687120 associated_with TMEM67,nephronophthisis
40#46#gene9114776#90#diseaseC0239946 19508969-0#40#46#gene91147 19508969-0#76#90#diseaseC0239946 associated_with TMEM67,liver fibrosis
40#46#gene9114792#98#diseaseC3150796 19508969-0#40#46#gene91147 19508969-0#92#98#diseaseC3150796 associated_with TMEM67,NPHP11
41#47#gene9114769#73#diseaseC0431399 19508969-10#41#47#gene91147 19508969-10#69#73#diseaseC0431399 associated_with TMEM67,JBTS
41#47#gene91147172#197#diseaseC0009714 19508969-10#41#47#gene91147 19508969-10#172#197#diseaseC0009714 associated_with TMEM67,congenital liver fibrosis
28#32#gene9114771#79#diseaseC0000846 19508969-12#28#32#gene91147 19508969-12#71#79#diseaseC0000846 associated_with MKS3,agenesis
18#24#gene9114744#66#diseaseC3714506 19508969-7#18#24#gene91147 19508969-7#44#66#diseaseC3714506 associated_with TMEM67,Meckel-Gruber syndrome
18#24#gene9114768#71#diseaseC3714506 19508969-7#18#24#gene91147 19508969-7#68#71#diseaseC3714506 associated_with TMEM67,MKS