| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T1 |
0-14 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C138993 |
denotes |
Identification |
| T2 |
0-14 |
http://purl.bioontology.org/ontology/MESH/D007062 |
denotes |
Identification |
| T3 |
0-14 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25737 |
denotes |
Identification |
| T5 |
18-22 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13634 |
denotes |
rare |
| T10 |
18-22 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64954 |
denotes |
rare |
| T15 |
18-22 |
http://purl.bioontology.org/ontology/SNOMEDCT/89292003 |
denotes |
rare |
| T20 |
23-26 |
http://purl.org/sig/ont/fma/fma74412 |
denotes |
DNA |
| T24 |
23-26 |
http://purl.obolibrary.org/obo/GO_0005574 |
denotes |
DNA |
| T28 |
23-26 |
http://purl.bioontology.org/ontology/MESH/D004247 |
denotes |
DNA |
| T32 |
23-26 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C135409 |
denotes |
DNA |
| T36 |
23-26 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C449 |
denotes |
DNA |
| T40 |
39-52 |
http://purl.bioontology.org/ontology/OMIM/MTHU006682 |
denotes |
mitochondrial |
| T43 |
39-52 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13258 |
denotes |
mitochondrial |
| T46 |
53-62 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
disorders |
| T49 |
68-76 |
http://purl.bioontology.org/ontology/SNOMEDCT/385425000 |
denotes |
improved |
| T50 |
68-76 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C125459 |
denotes |
improved |
| T51 |
68-76 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C71685 |
denotes |
improved |
| T52 |
77-82 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26358 |
denotes |
array |
| T55 |
83-88 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25430 |
denotes |
based |
| T56 |
83-88 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48055 |
denotes |
based |
| T59 |
89-99 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18881 |
denotes |
sequencing |
| T62 |
89-99 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17565 |
denotes |
sequencing |
| T65 |
89-99 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116155 |
denotes |
sequencing |
| T68 |
113-119 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C38019 |
denotes |
common |
| T69 |
113-119 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43461 |
denotes |
common |
| T70 |
113-119 |
http://purl.bioontology.org/ontology/SNOMEDCT/72906007 |
denotes |
common |
| T71 |
120-124 |
http://purl.bioontology.org/ontology/SNOMEDCT/410518001 |
denotes |
goal |
| T72 |
120-124 |
http://purl.bioontology.org/ontology/MESH/D006040 |
denotes |
goal |
| T73 |
132-141 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62262 |
denotes |
discovery |
| T6 |
145-149 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13634 |
denotes |
rare |
| T11 |
145-149 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64954 |
denotes |
rare |
| T16 |
145-149 |
http://purl.bioontology.org/ontology/SNOMEDCT/89292003 |
denotes |
rare |
| T75 |
150-160 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75924 |
denotes |
functional |
| T76 |
150-160 |
http://purl.bioontology.org/ontology/SNOMEDCT/40143009 |
denotes |
functional |
| T77 |
150-160 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25518 |
denotes |
functional |
| T21 |
161-164 |
http://purl.org/sig/ont/fma/fma74412 |
denotes |
DNA |
| T25 |
161-164 |
http://purl.obolibrary.org/obo/GO_0005574 |
denotes |
DNA |
| T29 |
161-164 |
http://purl.bioontology.org/ontology/MESH/D004247 |
denotes |
DNA |
| T33 |
161-164 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C135409 |
denotes |
DNA |
| T37 |
161-164 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C449 |
denotes |
DNA |
| T78 |
178-185 |
http://purl.bioontology.org/ontology/SNOMEDCT/74188005 |
denotes |
medical |
| T80 |
178-185 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25261 |
denotes |
medical |
| T82 |
186-198 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41254 |
denotes |
resequencing |
| T84 |
230-240 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49159 |
denotes |
proportion |
| T85 |
244-258 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45726 |
denotes |
false positive |
| T88 |
244-258 |
http://purl.bioontology.org/ontology/SNOMEDCT/90213003 |
denotes |
false positive |
| T90 |
250-258 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C113772 |
denotes |
positive |
| T93 |
250-258 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C81172 |
denotes |
positive |
| T96 |
250-258 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25246 |
denotes |
positive |
| T99 |
250-258 |
http://purl.bioontology.org/ontology/SNOMEDCT/10828004 |
denotes |
positive |
| T102 |
250-258 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C38758 |
denotes |
positive |
| T57 |
259-263 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48055 |
denotes |
base |
| T105 |
259-263 |
http://purl.bioontology.org/ontology/SNOMEDCT/63813000 |
denotes |
base |
| T107 |
259-263 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48056 |
denotes |
base |
| T109 |
259-263 |
http://purl.bioontology.org/ontology/OMIM/607627 |
denotes |
base |
| T111 |
259-263 |
http://purl.bioontology.org/ontology/SNOMEDCT/418836005 |
denotes |
base |
| T113 |
259-263 |
http://purl.obolibrary.org/obo/PR_000009685 |
denotes |
base |
| T115 |
259-263 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C709 |
denotes |
base |
| T117 |
259-263 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62564 |
denotes |
base |
| T119 |
259-263 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C92955 |
denotes |
base |
| T121 |
286-291 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25586 |
denotes |
novel |
| T124 |
292-303 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17167 |
denotes |
statistical |
| T123 |
292-310 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19044 |
denotes |
statistical method |
| T125 |
304-310 |
http://purl.bioontology.org/ontology/SNOMEDCT/260686004 |
denotes |
method |
| T126 |
304-310 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C71460 |
denotes |
method |
| T127 |
304-310 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16847 |
denotes |
method |
| T129 |
304-310 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C40570 |
denotes |
method |
| T130 |
304-310 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85492 |
denotes |
method |
| T131 |
304-310 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C82535 |
denotes |
method |
| T132 |
304-310 |
http://purl.bioontology.org/ontology/MESH/D008722 |
denotes |
method |
| T83 |
315-327 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41254 |
denotes |
resequencing |
| T133 |
342-350 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43465 |
denotes |
sequence |
| T135 |
342-350 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C89252 |
denotes |
sequence |
| T137 |
342-350 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13299 |
denotes |
sequence |
| T139 |
342-350 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25673 |
denotes |
sequence |
| T141 |
342-350 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45374 |
denotes |
sequence |
| T143 |
342-350 |
http://purl.obolibrary.org/obo/SO_0000001 |
denotes |
sequence |
| T145 |
351-357 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94972 |
denotes |
robust |
| T146 |
358-363 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17648 |
denotes |
multi |
| T53 |
364-369 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26358 |
denotes |
array |
| T148 |
370-378 |
http://purl.bioontology.org/ontology/MESH/Q000032 |
denotes |
analysis |
| T151 |
370-378 |
http://purl.bioontology.org/ontology/SNOMEDCT/272389005 |
denotes |
analysis |
| T154 |
370-378 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25391 |
denotes |
analysis |
| T157 |
383-391 |
http://purl.bioontology.org/ontology/SNOMEDCT/260366006 |
denotes |
increase |
| T158 |
383-391 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25533 |
denotes |
increase |
| T159 |
396-404 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49145 |
denotes |
accuracy |
| T160 |
396-404 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C134242 |
denotes |
accuracy |
| T7 |
418-422 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13634 |
denotes |
rare |
| T12 |
418-422 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64954 |
denotes |
rare |
| T17 |
418-422 |
http://purl.bioontology.org/ontology/SNOMEDCT/89292003 |
denotes |
rare |
| T161 |
447-452 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16471 |
denotes |
costs |
| T162 |
447-452 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C69088 |
denotes |
costs |
| T163 |
456-466 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53286 |
denotes |
subsequent |
| T134 |
467-475 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43465 |
denotes |
sequence |
| T136 |
467-475 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C89252 |
denotes |
sequence |
| T138 |
467-475 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13299 |
denotes |
sequence |
| T140 |
467-475 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25673 |
denotes |
sequence |
| T142 |
467-475 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45374 |
denotes |
sequence |
| T144 |
467-475 |
http://purl.obolibrary.org/obo/SO_0000001 |
denotes |
sequence |
| T164 |
490-498 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25652 |
denotes |
required |
| T79 |
502-509 |
http://purl.bioontology.org/ontology/SNOMEDCT/74188005 |
denotes |
medical |
| T81 |
502-509 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25261 |
denotes |
medical |
| T165 |
538-544 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48440 |
denotes |
single |
| T166 |
538-544 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C150721 |
denotes |
single |
| T167 |
538-544 |
http://purl.bioontology.org/ontology/SNOMEDCT/125681006 |
denotes |
single |
| T147 |
549-554 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17648 |
denotes |
multi |
| T54 |
555-560 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26358 |
denotes |
array |
| T149 |
561-569 |
http://purl.bioontology.org/ontology/MESH/Q000032 |
denotes |
analysis |
| T152 |
561-569 |
http://purl.bioontology.org/ontology/SNOMEDCT/272389005 |
denotes |
analysis |
| T155 |
561-569 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25391 |
denotes |
analysis |
| T128 |
587-596 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16847 |
denotes |
technical |
| T168 |
610-614 |
http://purl.bioontology.org/ontology/SNOMEDCT/20572008 |
denotes |
well |
| T169 |
610-614 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157663 |
denotes |
well |
| T170 |
610-614 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C128793 |
denotes |
well |
| T171 |
610-614 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70592 |
denotes |
well |
| T172 |
656-665 |
http://purl.bioontology.org/ontology/SNOMEDCT/260864003 |
denotes |
frequency |
| T173 |
656-665 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C112417 |
denotes |
frequency |
| T174 |
656-665 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75389 |
denotes |
frequency |
| T175 |
656-665 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53988 |
denotes |
frequency |
| T176 |
656-665 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25515 |
denotes |
frequency |
| T177 |
656-665 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118873 |
denotes |
frequency |
| T178 |
656-665 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C71113 |
denotes |
frequency |
| T179 |
666-673 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16629 |
denotes |
genomic |
| T180 |
674-683 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25713 |
denotes |
variation |
| T181 |
689-699 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43367 |
denotes |
confidence |
| T182 |
689-699 |
http://purl.bioontology.org/ontology/SNOMEDCT/225487001 |
denotes |
confidence |
| T183 |
689-699 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49020 |
denotes |
confidence |
| T184 |
700-707 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64642 |
denotes |
of each |
| T58 |
708-712 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48055 |
denotes |
base |
| T106 |
708-712 |
http://purl.bioontology.org/ontology/SNOMEDCT/63813000 |
denotes |
base |
| T108 |
708-712 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48056 |
denotes |
base |
| T110 |
708-712 |
http://purl.bioontology.org/ontology/OMIM/607627 |
denotes |
base |
| T112 |
708-712 |
http://purl.bioontology.org/ontology/SNOMEDCT/418836005 |
denotes |
base |
| T114 |
708-712 |
http://purl.obolibrary.org/obo/PR_000009685 |
denotes |
base |
| T116 |
708-712 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C709 |
denotes |
base |
| T118 |
708-712 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62564 |
denotes |
base |
| T120 |
708-712 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C92955 |
denotes |
base |
| T185 |
713-717 |
http://purl.bioontology.org/ontology/OMIM/607416 |
denotes |
call |
| T186 |
713-717 |
http://purl.bioontology.org/ontology/SNOMEDCT/420942008 |
denotes |
call |
| T187 |
713-717 |
http://purl.obolibrary.org/obo/PR_000005429 |
denotes |
call |
| T188 |
713-717 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64924 |
denotes |
call |
| T189 |
713-717 |
http://purl.obolibrary.org/obo/PR_P70232 |
denotes |
call |
| T190 |
713-717 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53285 |
denotes |
call |
| T191 |
739-746 |
http://purl.bioontology.org/ontology/SNOMEDCT/263496004 |
denotes |
quality |
| T192 |
739-746 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25283 |
denotes |
quality |
| T193 |
739-746 |
http://www.ifomis.org/bfo/1.1/snap#Quality |
denotes |
quality |
| T194 |
739-746 |
http://purl.obolibrary.org/obo/BFO_0000019 |
denotes |
quality |
| T195 |
739-746 |
http://purl.obolibrary.org/obo/BFO_0000019 |
denotes |
quality |
| T196 |
747-755 |
http://purl.bioontology.org/ontology/SNOMEDCT/367346004 |
denotes |
measures |
| T197 |
760-770 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49156 |
denotes |
comparison |
| T199 |
781-790 |
http://purl.org/sig/ont/fma/fma63194 |
denotes |
capillary |
| T200 |
781-790 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C12685 |
denotes |
capillary |
| T201 |
781-790 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C23616 |
denotes |
capillary |
| T198 |
781-801 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C146814 |
denotes |
capillary sequencing |
| T60 |
791-801 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18881 |
denotes |
sequencing |
| T63 |
791-801 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17565 |
denotes |
sequencing |
| T66 |
791-801 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116155 |
denotes |
sequencing |
| T86 |
817-832 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45726 |
denotes |
false discovery |
| T202 |
817-837 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64214 |
denotes |
false discovery rate |
| T74 |
823-832 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C62262 |
denotes |
discovery |
| T203 |
833-837 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25636 |
denotes |
rate |
| T206 |
833-837 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C77538 |
denotes |
rate |
| T87 |
845-859 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45726 |
denotes |
false positive |
| T89 |
845-859 |
http://purl.bioontology.org/ontology/SNOMEDCT/90213003 |
denotes |
false positive |
| T91 |
851-859 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C113772 |
denotes |
positive |
| T94 |
851-859 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C81172 |
denotes |
positive |
| T97 |
851-859 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25246 |
denotes |
positive |
| T100 |
851-859 |
http://purl.bioontology.org/ontology/SNOMEDCT/10828004 |
denotes |
positive |
| T103 |
851-859 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C38758 |
denotes |
positive |
| T204 |
860-864 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25636 |
denotes |
rate |
| T207 |
860-864 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C77538 |
denotes |
rate |
| T209 |
877-891 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C93283 |
denotes |
false negative |
| T210 |
877-891 |
http://purl.bioontology.org/ontology/SNOMEDCT/61707005 |
denotes |
false negative |
| T211 |
883-891 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C38757 |
denotes |
negative |
| T212 |
883-891 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C81022 |
denotes |
negative |
| T213 |
883-891 |
http://purl.bioontology.org/ontology/SNOMEDCT/260385009 |
denotes |
negative |
| T214 |
883-891 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C81173 |
denotes |
negative |
| T215 |
883-891 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25247 |
denotes |
negative |
| T205 |
892-896 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25636 |
denotes |
rate |
| T208 |
892-896 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C77538 |
denotes |
rate |
| T216 |
922-931 |
http://purl.bioontology.org/ontology/SNOMEDCT/8359006 |
denotes |
automated |
| T217 |
922-931 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70669 |
denotes |
automated |
| T218 |
932-938 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C42535 |
denotes |
second |
| T219 |
932-938 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25666 |
denotes |
second |
| T220 |
932-938 |
http://purl.bioontology.org/ontology/SNOMEDCT/81170007 |
denotes |
second |
| T221 |
932-938 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49463 |
denotes |
second |
| T222 |
932-938 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C68861 |
denotes |
second |
| T223 |
939-949 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C88214 |
denotes |
generation |
| T224 |
939-949 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48151 |
denotes |
generation |
| T61 |
950-960 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18881 |
denotes |
sequencing |
| T64 |
950-960 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17565 |
denotes |
sequencing |
| T67 |
950-960 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116155 |
denotes |
sequencing |
| T225 |
975-982 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C113519 |
denotes |
Applied |
| T150 |
990-998 |
http://purl.bioontology.org/ontology/MESH/Q000032 |
denotes |
analysis |
| T153 |
990-998 |
http://purl.bioontology.org/ontology/SNOMEDCT/272389005 |
denotes |
analysis |
| T156 |
990-998 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25391 |
denotes |
analysis |
| T226 |
1005-1012 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13361 |
denotes |
nuclear |
| T228 |
1013-1022 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C138079 |
denotes |
candidate |
| T227 |
1013-1028 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19389 |
denotes |
candidate genes |
| T229 |
1023-1028 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 |
denotes |
genes |
| T231 |
1023-1028 |
http://purl.bioontology.org/ontology/MESH/D005796 |
denotes |
genes |
| T47 |
1032-1041 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
disorders |
| T41 |
1045-1058 |
http://purl.bioontology.org/ontology/OMIM/MTHU006682 |
denotes |
mitochondrial |
| T44 |
1045-1058 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13258 |
denotes |
mitochondrial |
| T233 |
1045-1062 |
http://purl.org/sig/ont/fma/fma67199 |
denotes |
mitochondrial DNA |
| T234 |
1045-1062 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28512 |
denotes |
mitochondrial DNA |
| T236 |
1045-1062 |
http://purl.obolibrary.org/obo/GO_0000262 |
denotes |
mitochondrial DNA |
| T22 |
1059-1062 |
http://purl.org/sig/ont/fma/fma74412 |
denotes |
DNA |
| T26 |
1059-1062 |
http://purl.obolibrary.org/obo/GO_0005574 |
denotes |
DNA |
| T30 |
1059-1062 |
http://purl.bioontology.org/ontology/MESH/D004247 |
denotes |
DNA |
| T34 |
1059-1062 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C135409 |
denotes |
DNA |
| T38 |
1059-1062 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C449 |
denotes |
DNA |
| T235 |
1064-1069 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28512 |
denotes |
mtDNA |
| T237 |
1064-1069 |
http://purl.obolibrary.org/obo/GO_0000262 |
denotes |
mtDNA |
| T238 |
1064-1069 |
http://purl.bioontology.org/ontology/MESH/D004272 |
denotes |
mtDNA |
| T239 |
1071-1082 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156598 |
denotes |
maintenance |
| T240 |
1071-1082 |
http://purl.bioontology.org/ontology/MESH/D008283 |
denotes |
maintenance |
| T241 |
1071-1082 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53297 |
denotes |
maintenance |
| T242 |
1087-1096 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25458 |
denotes |
confirmed |
| T243 |
1097-1106 |
http://purl.bioontology.org/ontology/MESH/D009154 |
denotes |
mutations |
| T23 |
1114-1117 |
http://purl.org/sig/ont/fma/fma74412 |
denotes |
DNA |
| T27 |
1114-1117 |
http://purl.obolibrary.org/obo/GO_0005574 |
denotes |
DNA |
| T31 |
1114-1117 |
http://purl.bioontology.org/ontology/MESH/D004247 |
denotes |
DNA |
| T35 |
1114-1117 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C135409 |
denotes |
DNA |
| T39 |
1114-1117 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C449 |
denotes |
DNA |
| T246 |
1114-1128 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19172 |
denotes |
DNA polymerase |
| T244 |
1114-1134 |
http://purl.bioontology.org/ontology/MESH/D000074002 |
denotes |
DNA polymerase gamma |
| T245 |
1114-1134 |
http://purl.obolibrary.org/obo/GO_0003887 |
denotes |
DNA polymerase gamma |
| T247 |
1118-1128 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20636 |
denotes |
polymerase |
| T248 |
1129-1134 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C68914 |
denotes |
gamma |
| T249 |
1129-1134 |
http://purl.bioontology.org/ontology/SNOMEDCT/421416008 |
denotes |
gamma |
| T250 |
1129-1134 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C44386 |
denotes |
gamma |
| T251 |
1135-1139 |
http://purl.obolibrary.org/obo/PR_Q27607 |
denotes |
POLG |
| T252 |
1135-1139 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C143071 |
denotes |
POLG |
| T253 |
1135-1139 |
http://purl.obolibrary.org/obo/PR_000012973 |
denotes |
POLG |
| T254 |
1135-1139 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C143069 |
denotes |
POLG |
| T92 |
1143-1151 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C113772 |
denotes |
positive |
| T95 |
1143-1151 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C81172 |
denotes |
positive |
| T98 |
1143-1151 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25246 |
denotes |
positive |
| T101 |
1143-1151 |
http://purl.bioontology.org/ontology/SNOMEDCT/10828004 |
denotes |
positive |
| T104 |
1143-1151 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C38758 |
denotes |
positive |
| T255 |
1143-1159 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64356 |
denotes |
positive control |
| T256 |
1152-1159 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142703 |
denotes |
control |
| T257 |
1152-1159 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28143 |
denotes |
control |
| T258 |
1152-1159 |
http://purl.bioontology.org/ontology/SNOMEDCT/246106000 |
denotes |
control |
| T259 |
1152-1159 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99270 |
denotes |
control |
| T260 |
1152-1159 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61299 |
denotes |
control |
| T261 |
1152-1159 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64355 |
denotes |
control |
| T262 |
1160-1165 |
http://purl.bioontology.org/ontology/SNOMEDCT/398241000 |
denotes |
cases |
| T4 |
1171-1181 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25737 |
denotes |
identified |
| T264 |
1171-1181 |
http://purl.bioontology.org/ontology/SNOMEDCT/7882003 |
denotes |
identified |
| T122 |
1182-1187 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25586 |
denotes |
novel |
| T8 |
1188-1192 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13634 |
denotes |
rare |
| T13 |
1188-1192 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64954 |
denotes |
rare |
| T18 |
1188-1192 |
http://purl.bioontology.org/ontology/SNOMEDCT/89292003 |
denotes |
rare |
| T265 |
1216-1227 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C113725 |
denotes |
undiagnosed |
| T263 |
1228-1233 |
http://purl.bioontology.org/ontology/SNOMEDCT/398241000 |
denotes |
cases |
| T42 |
1241-1254 |
http://purl.bioontology.org/ontology/OMIM/MTHU006682 |
denotes |
mitochondrial |
| T45 |
1241-1254 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13258 |
denotes |
mitochondrial |
| T266 |
1255-1268 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20646 |
denotes |
topoisomerase |
| T267 |
1255-1268 |
http://purl.obolibrary.org/obo/GO_0003917 |
denotes |
topoisomerase |
| T268 |
1255-1268 |
http://purl.obolibrary.org/obo/GO_0003918 |
denotes |
topoisomerase |
| T269 |
1269-1275 |
http://purl.bioontology.org/ontology/OMIM/606387 |
denotes |
TOP1MT |
| T270 |
1269-1275 |
http://purl.obolibrary.org/obo/PR_Q6IM78 |
denotes |
TOP1MT |
| T271 |
1269-1275 |
http://purl.obolibrary.org/obo/PR_000016543 |
denotes |
TOP1MT |
| T276 |
1281-1289 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C67078 |
denotes |
mismatch |
| T272 |
1281-1296 |
http://purl.bioontology.org/ontology/MESH/D053843 |
denotes |
mismatch repair |
| T273 |
1281-1296 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C91471 |
denotes |
mismatch repair |
| T274 |
1281-1296 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20639 |
denotes |
mismatch repair |
| T275 |
1281-1296 |
http://purl.obolibrary.org/obo/GO_0006298 |
denotes |
mismatch repair |
| T277 |
1290-1296 |
http://purl.bioontology.org/ontology/SNOMEDCT/4365001 |
denotes |
repair |
| T278 |
1290-1296 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53611 |
denotes |
repair |
| T279 |
1290-1296 |
http://purl.bioontology.org/ontology/SNOMEDCT/257903006 |
denotes |
repair |
| T280 |
1297-1303 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16554 |
denotes |
enzyme |
| T281 |
1297-1303 |
http://purl.obolibrary.org/obo/OBI_0000427 |
denotes |
enzyme |
| T282 |
1297-1303 |
http://purl.bioontology.org/ontology/SNOMEDCT/90668006 |
denotes |
enzyme |
| T283 |
1297-1303 |
http://purl.bioontology.org/ontology/SNOMEDCT/734543001 |
denotes |
enzyme |
| T284 |
1297-1303 |
http://purl.bioontology.org/ontology/STY/T126 |
denotes |
enzyme |
| T285 |
1297-1303 |
http://purl.bioontology.org/ontology/STY/T126 |
denotes |
enzyme |
| T286 |
1297-1303 |
http://purl.bioontology.org/ontology/STY/T126 |
denotes |
enzyme |
| T287 |
1297-1303 |
http://purl.bioontology.org/ontology/STY/T126 |
denotes |
enzyme |
| T288 |
1297-1303 |
http://purl.bioontology.org/ontology/STY/T126 |
denotes |
enzyme |
| T289 |
1297-1303 |
http://purl.bioontology.org/ontology/STY/T126 |
denotes |
enzyme |
| T290 |
1297-1303 |
http://purl.bioontology.org/ontology/STY/T126 |
denotes |
enzyme |
| T291 |
1297-1303 |
http://purl.bioontology.org/ontology/STY/T126 |
denotes |
enzyme |
| T292 |
1297-1303 |
http://purl.bioontology.org/ontology/STY/T126 |
denotes |
enzyme |
| T293 |
1304-1309 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61056 |
denotes |
MUTYH |
| T294 |
1304-1309 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61059 |
denotes |
MUTYH |
| T295 |
1304-1309 |
http://purl.obolibrary.org/obo/PR_000010784 |
denotes |
MUTYH |
| T296 |
1319-1353 |
http://purl.obolibrary.org/obo/PR_Q5XF07 |
denotes |
apurinic-apyrimidinic endonuclease |
| T297 |
1319-1353 |
http://purl.obolibrary.org/obo/PR_P19889 |
denotes |
apurinic-apyrimidinic endonuclease |
| T298 |
1319-1353 |
http://purl.obolibrary.org/obo/PR_Q10002 |
denotes |
apurinic-apyrimidinic endonuclease |
| T299 |
1354-1359 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20553 |
denotes |
APEX2 |
| T300 |
1354-1359 |
http://purl.bioontology.org/ontology/OMIM/300773 |
denotes |
APEX2 |
| T301 |
1354-1359 |
http://purl.obolibrary.org/obo/PR_000004128 |
denotes |
APEX2 |
| T302 |
1366-1374 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16960 |
denotes |
patients |
| T303 |
1366-1374 |
http://purl.bioontology.org/ontology/MESH/D010361 |
denotes |
patients |
| T9 |
1383-1387 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13634 |
denotes |
rare |
| T14 |
1383-1387 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C64954 |
denotes |
rare |
| T19 |
1383-1387 |
http://purl.bioontology.org/ontology/SNOMEDCT/89292003 |
denotes |
rare |
| T304 |
1388-1400 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45825 |
denotes |
heterozygous |
| T230 |
1446-1451 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 |
denotes |
genes |
| T232 |
1446-1451 |
http://purl.bioontology.org/ontology/MESH/D005796 |
denotes |
genes |
| T305 |
1474-1485 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94380 |
denotes |
synergistic |
| T306 |
1486-1493 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15238 |
denotes |
genetic |
| T307 |
1486-1493 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17938 |
denotes |
genetic |
| T308 |
1494-1501 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25492 |
denotes |
effects |
| T48 |
1530-1539 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991 |
denotes |
disorders |