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PubMed:16288197 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
16288197_0 1457-1461 ProteinMutation denotes Q48H rs74315339
16288197_1 2294-2298 ProteinMutation denotes Q48H rs74315339
16288197_2 2611-2615 ProteinMutation denotes Q48H rs74315339

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-89 Sentence denotes Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree.
T2 90-98 Sentence denotes PURPOSE:
T3 99-241 Sentence denotes Congenital microcoria is a rare autosomal dominant developmental disorder of the iris associated with myopia and juvenile open angle glaucoma.
T4 242-339 Sentence denotes Linkage to the chromosomal locus 13q31-q32 has previously been reported in a large French family.
T5 340-562 Sentence denotes In the current study, a three generation Asian Indian family with 15 congenital microcoria (pupils with a diameter <2 mm) affected members was studied for linkage to candidate microsatellite markers at the 13q31-q32 locus.
T6 563-571 Sentence denotes METHODS:
T7 572-661 Sentence denotes Twenty-four members of the family were clinically examined and genomic DNA was extracted.
T8 662-803 Sentence denotes Microsatellite markers at 13q31-q32 were PCR amplified and run on an ABI Prism 310 genetic analyzer and genotyped with the GeneScan analysis.
T9 804-900 Sentence denotes Two point and multipoint linkage analyses were performed using the MLINK and SUPERLINK programs.
T10 901-909 Sentence denotes RESULTS:
T11 910-1032 Sentence denotes Peak two point LOD scores of 3.5, 4.7, and 5.3 were found co-incident with consecutive markers D13S154, DCT, and D13S1280.
T12 1033-1241 Sentence denotes Multipoint analysis revealed a 4 cM region encompassing D13S1300 to D13S1280 where the LOD remains just over 6.0 Thus we confirm localization of the congenital microcoria locus to chromosomal locus 13q31-q32.
T13 1242-1390 Sentence denotes In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1.
T14 1391-1619 Sentence denotes Using direct sequencing a point mutation (144 G>A) resulting in a Q48H substitution in exon 1 of the MYOC gene was observed in five of the eight glaucoma patients, but not in unaffected family members and 100 unrelated controls.
T15 1620-1632 Sentence denotes CONCLUSIONS:
T16 1633-1861 Sentence denotes We have confirmed the localization of the congenital microcoria locus (MCOR) to 13q31-q32 in a large Asian Indian family and conclude that current information suggests this is a single locus disorder and genetically homogeneous.
T17 1862-2005 Sentence denotes When combined with the initial linkage paper our haplotype and linkage data map the MCOR locus to a 6-7 cM region between D13S265 and D13S1280.
T18 2006-2105 Sentence denotes The DCT locus, a member of the tyrosinase family involved in pigmentation, maps within this region.
T19 2106-2372 Sentence denotes Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India.
T20 2373-2550 Sentence denotes Fine mapping and candidate gene analysis continues with the hope that characterizing the micocoria gene will lead to a better understanding of microcoria and glaucoma causation.
T21 2551-2653 Sentence denotes The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed.

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 180-184 OrganismTaxon denotes iris NCBItxid:444649|NCBItxid:26378
T3 232-240 OrganismTaxon denotes glaucoma NCBItxid:5882
T4 1301-1309 OrganismTaxon denotes glaucoma NCBItxid:5882
T5 1328-1336 OrganismTaxon denotes glaucoma NCBItxid:5882
T6 1536-1544 OrganismTaxon denotes glaucoma NCBItxid:5882
T7 2208-2216 OrganismTaxon denotes glaucoma NCBItxid:5882
T8 2354-2362 OrganismTaxon denotes glaucoma NCBItxid:5882
T9 2531-2539 OrganismTaxon denotes glaucoma NCBItxid:5882
T10 2588-2596 OrganismTaxon denotes glaucoma NCBItxid:5882

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
2504 34-55 DiseaseOrPhenotypicFeature denotes congenital microcoria MESH:C537550
2505 99-120 DiseaseOrPhenotypicFeature denotes Congenital microcoria MESH:C537550
2506 131-184 DiseaseOrPhenotypicFeature denotes autosomal dominant developmental disorder of the iris MESH:D007499
2507 201-207 DiseaseOrPhenotypicFeature denotes myopia MESH:D009216
2508 212-240 DiseaseOrPhenotypicFeature denotes juvenile open angle glaucoma MESH:D005902
2509 409-430 DiseaseOrPhenotypicFeature denotes congenital microcoria MESH:C537550
2510 1014-1017 GeneOrGeneProduct denotes DCT NCBIGene:1638
2511 1182-1203 DiseaseOrPhenotypicFeature denotes congenital microcoria MESH:C537550
2512 1286-1296 DiseaseOrPhenotypicFeature denotes microcoria MESH:C537550
2513 1301-1309 DiseaseOrPhenotypicFeature denotes glaucoma MESH:D005901
2514 1328-1336 DiseaseOrPhenotypicFeature denotes glaucoma MESH:D005901
2515 1344-1352 GeneOrGeneProduct denotes myocilin NCBIGene:4653
2516 1354-1358 GeneOrGeneProduct denotes MYOC NCBIGene:4653
2517 1361-1371 GeneOrGeneProduct denotes optineurin NCBIGene:10133
2518 1373-1377 GeneOrGeneProduct denotes OPTN NCBIGene:10133
2519 1383-1389 GeneOrGeneProduct denotes CYP1B1 NCBIGene:1545
2520 1433-1440 SequenceVariant denotes 144 G>A DBSNP:rs74315339
2521 1457-1461 SequenceVariant denotes Q48H DBSNP:rs74315339
2522 1492-1496 GeneOrGeneProduct denotes MYOC NCBIGene:4653
2523 1536-1544 DiseaseOrPhenotypicFeature denotes glaucoma MESH:D005901
2524 1545-1553 OrganismTaxon denotes patients NCBITaxon:9606
2525 1675-1696 DiseaseOrPhenotypicFeature denotes congenital microcoria MESH:C537550
2526 1704-1708 GeneOrGeneProduct denotes MCOR NCBIGene:8104
2527 1946-1950 GeneOrGeneProduct denotes MCOR NCBIGene:8104
2528 2010-2013 GeneOrGeneProduct denotes DCT NCBIGene:1638
2529 2037-2047 GeneOrGeneProduct denotes tyrosinase NCBIGene:7299
2530 2067-2079 DiseaseOrPhenotypicFeature denotes pigmentation MESH:D010859
2531 2155-2176 DiseaseOrPhenotypicFeature denotes congenital microcoria MESH:C537550
2532 2208-2216 DiseaseOrPhenotypicFeature denotes glaucoma MESH:D005901
2533 2289-2293 GeneOrGeneProduct denotes MYOC NCBIGene:4653
2534 2294-2298 SequenceVariant denotes Q48H DBSNP:rs74315339
2535 2354-2362 DiseaseOrPhenotypicFeature denotes glaucoma MESH:D005901
2536 2462-2471 GeneOrGeneProduct denotes micocoria NCBIGene:8104
2537 2516-2526 DiseaseOrPhenotypicFeature denotes microcoria MESH:C537550
2538 2531-2539 DiseaseOrPhenotypicFeature denotes glaucoma MESH:D005901
2539 2576-2586 DiseaseOrPhenotypicFeature denotes microcoria MESH:C537550
2540 2588-2596 DiseaseOrPhenotypicFeature denotes glaucoma MESH:D005901
2541 2606-2610 GeneOrGeneProduct denotes MYOC NCBIGene:4653
2542 2611-2615 SequenceVariant denotes Q48H DBSNP:rs74315339

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 24-33 DiseaseOrPhenotypicFeature denotes inherited 0021152
T2 34-55 DiseaseOrPhenotypicFeature denotes congenital microcoria 0007989
T3 34-44 DiseaseOrPhenotypicFeature denotes congenital 0021140
T4 99-120 DiseaseOrPhenotypicFeature denotes Congenital microcoria 0007989
T5 126-130 DiseaseOrPhenotypicFeature denotes rare 0021136
T6 201-207 DiseaseOrPhenotypicFeature denotes myopia 0001384
T7 212-240 DiseaseOrPhenotypicFeature denotes juvenile open angle glaucoma 0020367
T8 232-240 DiseaseOrPhenotypicFeature denotes glaucoma 0005041
T9 409-430 DiseaseOrPhenotypicFeature denotes congenital microcoria 0007989
T10 409-419 DiseaseOrPhenotypicFeature denotes congenital 0021140
T11 1182-1203 DiseaseOrPhenotypicFeature denotes congenital microcoria 0007989
T12 1182-1192 DiseaseOrPhenotypicFeature denotes congenital 0021140
T13 1301-1309 DiseaseOrPhenotypicFeature denotes glaucoma 0005041
T14 1328-1336 DiseaseOrPhenotypicFeature denotes glaucoma 0005041
T15 1536-1544 DiseaseOrPhenotypicFeature denotes glaucoma 0005041
T16 1675-1696 DiseaseOrPhenotypicFeature denotes congenital microcoria 0007989
T17 1675-1685 DiseaseOrPhenotypicFeature denotes congenital 0021140
T18 2155-2176 DiseaseOrPhenotypicFeature denotes congenital microcoria 0007989
T19 2155-2165 DiseaseOrPhenotypicFeature denotes congenital 0021140
T20 2208-2216 DiseaseOrPhenotypicFeature denotes glaucoma 0005041
T21 2354-2362 DiseaseOrPhenotypicFeature denotes glaucoma 0005041
T22 2531-2539 DiseaseOrPhenotypicFeature denotes glaucoma 0005041
T23 2588-2596 DiseaseOrPhenotypicFeature denotes glaucoma 0005041

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 1457-1461 SequenceVariant denotes Q48H
T2 2294-2298 SequenceVariant denotes Q48H
T3 2611-2615 SequenceVariant denotes Q48H

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 126-130 GeneOrGeneProduct denotes rare
T2 180-184 GeneOrGeneProduct denotes iris
T3 212-220 GeneOrGeneProduct denotes juvenile
T4 221-225 GeneOrGeneProduct denotes open
T5 226-231 GeneOrGeneProduct denotes angle
T6 314-318 GeneOrGeneProduct denotes in a
T7 319-324 GeneOrGeneProduct denotes large
T8 563-570 GeneOrGeneProduct denotes METHODS
T9 572-583 GeneOrGeneProduct denotes Twenty-four
T10 735-740 GeneOrGeneProduct denotes Prism
T11 808-813 GeneOrGeneProduct denotes point
T12 919-924 GeneOrGeneProduct denotes point
T13 1344-1352 GeneOrGeneProduct denotes myocilin
T14 1354-1358 GeneOrGeneProduct denotes MYOC
T15 1361-1371 GeneOrGeneProduct denotes optineurin
T16 1373-1377 GeneOrGeneProduct denotes OPTN
T17 1383-1389 GeneOrGeneProduct denotes CYP1B1
T18 1417-1422 GeneOrGeneProduct denotes point
T19 1423-1431 GeneOrGeneProduct denotes mutation
T20 1452-1456 GeneOrGeneProduct denotes in a
T21 1492-1496 GeneOrGeneProduct denotes MYOC
T22 1704-1708 GeneOrGeneProduct denotes MCOR
T23 1723-1727 GeneOrGeneProduct denotes in a
T24 1728-1733 GeneOrGeneProduct denotes large
T25 1885-1892 GeneOrGeneProduct denotes initial
T26 1946-1950 GeneOrGeneProduct denotes MCOR
T27 2037-2047 GeneOrGeneProduct denotes tyrosinase
T28 2081-2085 GeneOrGeneProduct denotes maps
T29 2197-2203 GeneOrGeneProduct denotes factor
T30 2289-2293 GeneOrGeneProduct denotes MYOC
T31 2317-2325 GeneOrGeneProduct denotes mutation
T32 2433-2437 GeneOrGeneProduct denotes hope
T33 2606-2610 GeneOrGeneProduct denotes MYOC
T34 2616-2624 GeneOrGeneProduct denotes mutation

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 126-130 GeneOrGeneProduct denotes rare
T2 180-184 GeneOrGeneProduct denotes iris
T3 212-220 GeneOrGeneProduct denotes juvenile
T4 319-324 GeneOrGeneProduct denotes large
T5 572-583 GeneOrGeneProduct denotes Twenty-four
T6 1344-1352 GeneOrGeneProduct denotes myocilin
T7 1354-1358 GeneOrGeneProduct denotes MYOC
T8 1361-1371 GeneOrGeneProduct denotes optineurin
T9 1373-1377 GeneOrGeneProduct denotes OPTN
T10 1383-1389 GeneOrGeneProduct denotes CYP1B1
T11 1492-1496 GeneOrGeneProduct denotes MYOC
T12 1704-1708 GeneOrGeneProduct denotes MCOR
T13 1728-1733 GeneOrGeneProduct denotes large
T14 1946-1950 GeneOrGeneProduct denotes MCOR
T15 2037-2047 GeneOrGeneProduct denotes tyrosinase
T16 2197-2203 GeneOrGeneProduct denotes factor
T17 2289-2293 GeneOrGeneProduct denotes MYOC
T18 2606-2610 GeneOrGeneProduct denotes MYOC

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 34-55 DiseaseOrPhenotypicFeature denotes congenital microcoria C537550
T2 99-120 DiseaseOrPhenotypicFeature denotes Congenital microcoria C537550
T3 201-207 DiseaseOrPhenotypicFeature denotes myopia D009216
T4 221-240 DiseaseOrPhenotypicFeature denotes open angle glaucoma D005902
T5 409-430 DiseaseOrPhenotypicFeature denotes congenital microcoria C537550
T6 1182-1203 DiseaseOrPhenotypicFeature denotes congenital microcoria C537550
T7 1301-1309 DiseaseOrPhenotypicFeature denotes glaucoma D005901
T8 1328-1336 DiseaseOrPhenotypicFeature denotes glaucoma D005901
T9 1536-1544 DiseaseOrPhenotypicFeature denotes glaucoma D005901
T10 1675-1696 DiseaseOrPhenotypicFeature denotes congenital microcoria C537550
T11 2155-2176 DiseaseOrPhenotypicFeature denotes congenital microcoria C537550
T12 2208-2216 DiseaseOrPhenotypicFeature denotes glaucoma D005901
T13 2354-2362 DiseaseOrPhenotypicFeature denotes glaucoma D005901
T14 2531-2539 DiseaseOrPhenotypicFeature denotes glaucoma D005901
T15 2588-2596 DiseaseOrPhenotypicFeature denotes glaucoma D005901

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 212-220 GeneOrGeneProduct denotes juvenile
T2 1344-1352 GeneOrGeneProduct denotes myocilin
T3 1354-1358 GeneOrGeneProduct denotes MYOC
T4 1361-1371 GeneOrGeneProduct denotes optineurin
T5 1373-1377 GeneOrGeneProduct denotes OPTN
T6 1383-1389 GeneOrGeneProduct denotes CYP1B1
T7 1492-1496 GeneOrGeneProduct denotes MYOC
T8 1704-1708 GeneOrGeneProduct denotes MCOR
T9 1946-1950 GeneOrGeneProduct denotes MCOR
T10 2037-2047 GeneOrGeneProduct denotes tyrosinase
T11 2289-2293 GeneOrGeneProduct denotes MYOC
T12 2606-2610 GeneOrGeneProduct denotes MYOC

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 34-55 DiseaseOrPhenotypicFeature denotes congenital microcoria 0007989
T2 99-120 DiseaseOrPhenotypicFeature denotes Congenital microcoria 0007989
T3 201-207 DiseaseOrPhenotypicFeature denotes myopia 0001384
T4 212-240 DiseaseOrPhenotypicFeature denotes juvenile open angle glaucoma 0020367
T5 409-430 DiseaseOrPhenotypicFeature denotes congenital microcoria 0007989
T6 1182-1203 DiseaseOrPhenotypicFeature denotes congenital microcoria 0007989
T7 1301-1309 DiseaseOrPhenotypicFeature denotes glaucoma 0005041
T8 1328-1336 DiseaseOrPhenotypicFeature denotes glaucoma 0005041
T9 1536-1544 DiseaseOrPhenotypicFeature denotes glaucoma 0005041
T10 1675-1696 DiseaseOrPhenotypicFeature denotes congenital microcoria 0007989
T11 2155-2176 DiseaseOrPhenotypicFeature denotes congenital microcoria 0007989
T12 2208-2216 DiseaseOrPhenotypicFeature denotes glaucoma 0005041
T13 2354-2362 DiseaseOrPhenotypicFeature denotes glaucoma 0005041
T14 2531-2539 DiseaseOrPhenotypicFeature denotes glaucoma 0005041
T15 2588-2596 DiseaseOrPhenotypicFeature denotes glaucoma 0005041

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 34-55 DiseaseOrPhenotypicFeature denotes congenital microcoria C537550
T2 99-120 DiseaseOrPhenotypicFeature denotes Congenital microcoria C537550
T3 201-207 DiseaseOrPhenotypicFeature denotes myopia D009216
T4 221-240 DiseaseOrPhenotypicFeature denotes open angle glaucoma D005902
T5 409-430 DiseaseOrPhenotypicFeature denotes congenital microcoria C537550
T6 1182-1203 DiseaseOrPhenotypicFeature denotes congenital microcoria C537550
T7 1286-1296 DiseaseOrPhenotypicFeature denotes microcoria DISEASE
T8 1301-1309 DiseaseOrPhenotypicFeature denotes glaucoma D005901
T9 1328-1336 DiseaseOrPhenotypicFeature denotes glaucoma D005901
T10 1536-1544 DiseaseOrPhenotypicFeature denotes glaucoma D005901
T11 1675-1696 DiseaseOrPhenotypicFeature denotes congenital microcoria C537550
T12 2067-2079 DiseaseOrPhenotypicFeature denotes pigmentation DISEASE
T13 2155-2176 DiseaseOrPhenotypicFeature denotes congenital microcoria C537550
T14 2208-2216 DiseaseOrPhenotypicFeature denotes glaucoma D005901
T15 2354-2362 DiseaseOrPhenotypicFeature denotes glaucoma D005901
T16 2516-2526 DiseaseOrPhenotypicFeature denotes microcoria DISEASE
T17 2531-2539 DiseaseOrPhenotypicFeature denotes glaucoma D005901
T18 2576-2586 DiseaseOrPhenotypicFeature denotes microcoria DISEASE
T19 2588-2596 DiseaseOrPhenotypicFeature denotes glaucoma D005901

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 34-55 DiseaseOrPhenotypicFeature denotes congenital microcoria C537550
T2 99-120 DiseaseOrPhenotypicFeature denotes Congenital microcoria C537550
T3 201-207 DiseaseOrPhenotypicFeature denotes myopia D009216
T4 221-240 DiseaseOrPhenotypicFeature denotes open angle glaucoma D005902
T5 409-430 DiseaseOrPhenotypicFeature denotes congenital microcoria C537550
T6 1182-1203 DiseaseOrPhenotypicFeature denotes congenital microcoria C537550
T7 1286-1296 DiseaseOrPhenotypicFeature denotes microcoria DISEASE
T8 1301-1309 DiseaseOrPhenotypicFeature denotes glaucoma D005901
T9 1328-1336 DiseaseOrPhenotypicFeature denotes glaucoma D005901
T10 1536-1544 DiseaseOrPhenotypicFeature denotes glaucoma D005901
T11 1675-1696 DiseaseOrPhenotypicFeature denotes congenital microcoria C537550
T12 2067-2079 DiseaseOrPhenotypicFeature denotes pigmentation DISEASE
T13 2155-2176 DiseaseOrPhenotypicFeature denotes congenital microcoria C537550
T14 2208-2216 DiseaseOrPhenotypicFeature denotes glaucoma D005901
T15 2354-2362 DiseaseOrPhenotypicFeature denotes glaucoma D005901
T16 2516-2526 DiseaseOrPhenotypicFeature denotes microcoria DISEASE
T17 2531-2539 DiseaseOrPhenotypicFeature denotes glaucoma D005901
T18 2576-2586 DiseaseOrPhenotypicFeature denotes microcoria DISEASE
T19 2588-2596 DiseaseOrPhenotypicFeature denotes glaucoma D005901

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 180-184 OrganismTaxon denotes iris
T2 1545-1553 OrganismTaxon denotes patients

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 2037-2047 ChemicalEntity denotes tyrosinase D014442
T2 2482-2486 ChemicalEntity denotes lead D007854

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T2 2482-2486 ChemicalEntity denotes lead D007854
T1 2037-2047 ChemicalEntity denotes tyrosinase D014442
T12 2606-2610 GeneOrGeneProduct denotes MYOC
T11 2289-2293 GeneOrGeneProduct denotes MYOC
T10 2037-2047 GeneOrGeneProduct denotes tyrosinase
T9 1946-1950 GeneOrGeneProduct denotes MCOR
T8 1704-1708 GeneOrGeneProduct denotes MCOR
T7 1492-1496 GeneOrGeneProduct denotes MYOC
T6 1383-1389 GeneOrGeneProduct denotes CYP1B1
T5 1373-1377 GeneOrGeneProduct denotes OPTN
T4 1361-1371 GeneOrGeneProduct denotes optineurin
T3 1354-1358 GeneOrGeneProduct denotes MYOC
T73887 1344-1352 GeneOrGeneProduct denotes myocilin
T89176 212-220 GeneOrGeneProduct denotes juvenile
T19 2588-2596 DiseaseOrPhenotypicFeature denotes glaucoma D005901
T18 2576-2586 DiseaseOrPhenotypicFeature denotes microcoria DISEASE
T17 2531-2539 DiseaseOrPhenotypicFeature denotes glaucoma D005901
T16 2516-2526 DiseaseOrPhenotypicFeature denotes microcoria DISEASE
T15 2354-2362 DiseaseOrPhenotypicFeature denotes glaucoma D005901
T14 2208-2216 DiseaseOrPhenotypicFeature denotes glaucoma D005901
T13 2155-2176 DiseaseOrPhenotypicFeature denotes congenital microcoria C537550
T3039 2067-2079 DiseaseOrPhenotypicFeature denotes pigmentation DISEASE
T51072 1675-1696 DiseaseOrPhenotypicFeature denotes congenital microcoria C537550
T85454 1536-1544 DiseaseOrPhenotypicFeature denotes glaucoma D005901
T90156 1328-1336 DiseaseOrPhenotypicFeature denotes glaucoma D005901
T7748 1301-1309 DiseaseOrPhenotypicFeature denotes glaucoma D005901
T56881 1286-1296 DiseaseOrPhenotypicFeature denotes microcoria DISEASE
T76489 1182-1203 DiseaseOrPhenotypicFeature denotes congenital microcoria C537550
T99309 409-430 DiseaseOrPhenotypicFeature denotes congenital microcoria C537550
T16291 221-240 DiseaseOrPhenotypicFeature denotes open angle glaucoma D005902
T1006 201-207 DiseaseOrPhenotypicFeature denotes myopia D009216
T88181 99-120 DiseaseOrPhenotypicFeature denotes Congenital microcoria C537550
T76097 34-55 DiseaseOrPhenotypicFeature denotes congenital microcoria C537550
T64874 1545-1553 OrganismTaxon denotes patients
T17575 180-184 OrganismTaxon denotes iris
T56255 2611-2615 SequenceVariant denotes Q48H
T90869 2294-2298 SequenceVariant denotes Q48H
T58359 1457-1461 SequenceVariant denotes Q48H

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 131-149 HP_0000006 denotes autosomal dominant
T2 164-184 HP_0000525 denotes disorder of the iris
T3 201-207 HP_0000545 denotes myopia
T4 232-240 HP_0000501 denotes glaucoma

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
16288197-14#183#187#gene4653 2289-2293 gene4653 denotes MYOC
16288197-14#248#256#diseaseC0017601 2354-2362 diseaseC0017601 denotes glaucoma
183#187#gene4653248#256#diseaseC0017601 16288197-14#183#187#gene4653 16288197-14#248#256#diseaseC0017601 associated_with MYOC,glaucoma

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 1433-1440 DNAMutation:c|SUB|G|144|A denotes 144 G>A
T2 1457-1461 ProteinMutation:p|SUB|Q|48|H denotes Q48H
T3 2294-2298 ProteinMutation:p|SUB|Q|48|H denotes Q48H
T4 2611-2615 ProteinMutation:p|SUB|Q|48|H denotes Q48H

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1361-1371 gene:10133 denotes optineurin
T1 1301-1309 disease:C0017601 denotes glaucoma
T2 1373-1377 gene:10133 denotes OPTN
T3 1301-1309 disease:C0017601 denotes glaucoma
T4 1383-1389 gene:1545 denotes CYP1B1
T5 1301-1309 disease:C0017601 denotes glaucoma
R1 T0 T1 associated_with optineurin,glaucoma
R2 T2 T3 associated_with OPTN,glaucoma
R3 T4 T5 associated_with CYP1B1,glaucoma