Id |
Subject |
Object |
Predicate |
Lexical cue |
T590 |
103-113 |
VBN |
denotes |
considered |
T595 |
1-6 |
JJR |
denotes |
lower |
T596 |
7-16 |
NNS |
denotes |
organisms |
T597 |
17-18 |
-LRB- |
denotes |
[ |
T598 |
18-19 |
CD |
denotes |
1 |
T599 |
19-20 |
-RRB- |
denotes |
] |
T600 |
20-22 |
, |
denotes |
, |
T601 |
22-25 |
PRP$ |
denotes |
its |
T602 |
26-35 |
NN |
denotes |
potential |
T603 |
36-38 |
TO |
denotes |
to |
T604 |
39-49 |
VB |
denotes |
contribute |
T605 |
50-52 |
IN |
denotes |
to |
T606 |
53-61 |
JJ |
denotes |
clinical |
T607 |
62-75 |
NN |
denotes |
heterogeneity |
T608 |
76-78 |
IN |
denotes |
in |
T609 |
79-84 |
JJ |
denotes |
human |
T610 |
85-92 |
NN |
denotes |
disease |
T611 |
93-95 |
VBZ |
denotes |
is |
T612 |
96-102 |
RB |
denotes |
seldom |
T613 |
113-114 |
. |
denotes |
. |
T614 |
114-442 |
sentence |
denotes |
Evidence of interallelic complementation at clinically relevant loci is limited to biochemical and cell-based studies of a handful of metabolic disorders with defects in enzymes including propinyl-CoA carboxylase [2], argininosuccinate lyase [3], galactose-1-phosphate uridylyltransferase [4], and methylmalonyl CoA mutase [5]. |
T615 |
115-123 |
NN |
denotes |
Evidence |
T616 |
187-194 |
VBN |
denotes |
limited |
T617 |
124-126 |
IN |
denotes |
of |
T618 |
127-139 |
JJ |
denotes |
interallelic |
T619 |
140-155 |
NN |
denotes |
complementation |
T620 |
156-158 |
IN |
denotes |
at |
T621 |
159-169 |
RB |
denotes |
clinically |
T622 |
170-178 |
JJ |
denotes |
relevant |
T623 |
179-183 |
NNS |
denotes |
loci |
T624 |
184-186 |
VBZ |
denotes |
is |
T625 |
195-197 |
IN |
denotes |
to |
T626 |
198-209 |
JJ |
denotes |
biochemical |
T627 |
225-232 |
NNS |
denotes |
studies |
T628 |
210-213 |
CC |
denotes |
and |
T629 |
214-218 |
NN |
denotes |
cell |
T630 |
219-224 |
VBN |
denotes |
based |
T631 |
218-219 |
HYPH |
denotes |
- |
T632 |
233-235 |
IN |
denotes |
of |
T633 |
236-237 |
DT |
denotes |
a |
T634 |
238-245 |
NN |
denotes |
handful |
T635 |
246-248 |
IN |
denotes |
of |
T636 |
249-258 |
JJ |
denotes |
metabolic |
T637 |
259-268 |
NNS |
denotes |
disorders |
T638 |
269-273 |
IN |
denotes |
with |
T639 |
274-281 |
NNS |
denotes |
defects |
T640 |
282-284 |
IN |
denotes |
in |
T641 |
285-292 |
NNS |
denotes |
enzymes |
T642 |
293-302 |
VBG |
denotes |
including |
T643 |
303-311 |
NN |
denotes |
propinyl |
T644 |
312-315 |
NN |
denotes |
CoA |
T645 |
311-312 |
HYPH |
denotes |
- |
T646 |
316-327 |
NN |
denotes |
carboxylase |
T647 |
328-329 |
-LRB- |
denotes |
[ |
T648 |
329-330 |
CD |
denotes |
2 |
T649 |
330-331 |
-RRB- |
denotes |
] |
T650 |
331-333 |
, |
denotes |
, |
T651 |
333-350 |
NN |
denotes |
argininosuccinate |
T652 |
351-356 |
NN |
denotes |
lyase |
T653 |
357-358 |
-LRB- |
denotes |
[ |
T654 |
358-359 |
CD |
denotes |
3 |
T655 |
359-360 |
-RRB- |
denotes |
] |
T656 |
360-362 |
, |
denotes |
, |
T657 |
362-371 |
NN |
denotes |
galactose |
T658 |
374-383 |
NN |
denotes |
phosphate |
T659 |
371-372 |
HYPH |
denotes |
- |
T660 |
372-373 |
CD |
denotes |
1 |
T661 |
373-374 |
HYPH |
denotes |
- |
T662 |
384-403 |
NN |
denotes |
uridylyltransferase |
T663 |
404-405 |
-LRB- |
denotes |
[ |
T664 |
405-406 |
CD |
denotes |
4 |
T665 |
406-407 |
-RRB- |
denotes |
] |
T666 |
407-409 |
, |
denotes |
, |
T667 |
409-412 |
CC |
denotes |
and |
T668 |
413-426 |
NN |
denotes |
methylmalonyl |
T669 |
431-437 |
NN |
denotes |
mutase |
T670 |
427-430 |
NN |
denotes |
CoA |
T671 |
438-439 |
-LRB- |
denotes |
[ |
T672 |
439-440 |
CD |
denotes |
5 |
T673 |
440-441 |
-RRB- |
denotes |
] |
T674 |
441-442 |
. |
denotes |
. |
T675 |
442-537 |
sentence |
denotes |
Compound heterozygotes are individuals carrying two different mutant alleles of the same gene. |
T676 |
443-451 |
JJ |
denotes |
Compound |
T677 |
452-465 |
NNS |
denotes |
heterozygotes |
T678 |
466-469 |
VBP |
denotes |
are |
T679 |
470-481 |
NNS |
denotes |
individuals |
T680 |
482-490 |
VBG |
denotes |
carrying |
T681 |
491-494 |
CD |
denotes |
two |
T682 |
512-519 |
NNS |
denotes |
alleles |
T683 |
495-504 |
JJ |
denotes |
different |
T684 |
505-511 |
JJ |
denotes |
mutant |
T685 |
520-522 |
IN |
denotes |
of |
T686 |
523-526 |
DT |
denotes |
the |
T687 |
532-536 |
NN |
denotes |
gene |
T688 |
527-531 |
JJ |
denotes |
same |
T689 |
536-537 |
. |
denotes |
. |
T690 |
537-766 |
sentence |
denotes |
In the absence of a dominant (wild-type [wt]) allele, genetic interactions between recessive alleles (referred to here as “biallelic” effects) could result in different phenotypic outcomes including interallelic complementation. |
T691 |
538-540 |
IN |
denotes |
In |
T692 |
687-693 |
VB |
denotes |
result |
T693 |
541-544 |
DT |
denotes |
the |
T694 |
545-552 |
NN |
denotes |
absence |
T695 |
553-555 |
IN |
denotes |
of |
T696 |
556-557 |
DT |
denotes |
a |
T697 |
584-590 |
NN |
denotes |
allele |
T698 |
558-566 |
JJ |
denotes |
dominant |
T699 |
567-568 |
-LRB- |
denotes |
( |
T700 |
568-572 |
JJ |
denotes |
wild |
T701 |
573-577 |
NN |
denotes |
type |
T702 |
572-573 |
HYPH |
denotes |
- |
T703 |
578-579 |
-LRB- |
denotes |
[ |
T704 |
579-581 |
NN |
denotes |
wt |
T705 |
581-582 |
-RRB- |
denotes |
] |
T706 |
582-583 |
-RRB- |
denotes |
) |
T707 |
590-592 |
, |
denotes |
, |
T708 |
592-599 |
JJ |
denotes |
genetic |
T709 |
600-612 |
NNS |
denotes |
interactions |
T710 |
613-620 |
IN |
denotes |
between |
T711 |
621-630 |
JJ |
denotes |
recessive |
T712 |
631-638 |
NNS |
denotes |
alleles |
T713 |
639-640 |
-LRB- |
denotes |
( |
T714 |
640-648 |
VBN |
denotes |
referred |
T715 |
649-651 |
IN |
denotes |
to |
T716 |
652-656 |
RB |
denotes |
here |
T717 |
657-659 |
IN |
denotes |
as |
T718 |
660-661 |
`` |
denotes |
“ |
T719 |
661-670 |
JJ |
denotes |
biallelic |
T720 |
672-679 |
NNS |
denotes |
effects |
T721 |
670-671 |
'' |
denotes |
” |
T722 |
679-680 |
-RRB- |
denotes |
) |
T723 |
681-686 |
MD |
denotes |
could |
T724 |
694-696 |
IN |
denotes |
in |
T725 |
697-706 |
JJ |
denotes |
different |
T726 |
718-726 |
NNS |
denotes |
outcomes |
T727 |
707-717 |
JJ |
denotes |
phenotypic |
T728 |
727-736 |
VBG |
denotes |
including |
T729 |
737-749 |
JJ |
denotes |
interallelic |
T730 |
750-765 |
NN |
denotes |
complementation |
T731 |
765-766 |
. |
denotes |
. |
T732 |
766-1102 |
sentence |
denotes |
Although amelioration of disease symptoms by interallelic complementation would create an ascertainment bias in the clinic, the lack of evidence concerning interallelic complementation or other biallelic effects in human disease is likely caused by the difficulty in distinguishing such effects from environment and genetic background. |
T733 |
767-775 |
IN |
denotes |
Although |
T734 |
847-853 |
VB |
denotes |
create |
T735 |
776-788 |
NN |
denotes |
amelioration |
T736 |
789-791 |
IN |
denotes |
of |
T737 |
792-799 |
NN |
denotes |
disease |
T738 |
800-808 |
NNS |
denotes |
symptoms |
T739 |
809-811 |
IN |
denotes |
by |
T740 |
812-824 |
JJ |
denotes |
interallelic |
T741 |
825-840 |
NN |
denotes |
complementation |
T742 |
841-846 |
MD |
denotes |
would |
T743 |
1006-1012 |
VBN |
denotes |
caused |
T744 |
854-856 |
DT |
denotes |
an |
T745 |
871-875 |
NN |
denotes |
bias |
T746 |
857-870 |
NN |
denotes |
ascertainment |
T747 |
876-878 |
IN |
denotes |
in |
T748 |
879-882 |
DT |
denotes |
the |
T749 |
883-889 |
NN |
denotes |
clinic |
T750 |
889-891 |
, |
denotes |
, |
T751 |
891-894 |
DT |
denotes |
the |
T752 |
895-899 |
NN |
denotes |
lack |
T753 |
900-902 |
IN |
denotes |
of |
T754 |
903-911 |
NN |
denotes |
evidence |
T755 |
912-922 |
VBG |
denotes |
concerning |
T756 |
923-935 |
JJ |
denotes |
interallelic |
T757 |
936-951 |
NN |
denotes |
complementation |
T758 |
952-954 |
CC |
denotes |
or |
T759 |
955-960 |
JJ |
denotes |
other |
T760 |
971-978 |
NNS |
denotes |
effects |
T761 |
961-970 |
JJ |
denotes |
biallelic |
T762 |
979-981 |
IN |
denotes |
in |
T763 |
982-987 |
JJ |
denotes |
human |
T764 |
988-995 |
NN |
denotes |
disease |
T765 |
996-998 |
VBZ |
denotes |
is |
T766 |
999-1005 |
RB |
denotes |
likely |
T767 |
1013-1015 |
IN |
denotes |
by |
T768 |
1016-1019 |
DT |
denotes |
the |
T769 |
1020-1030 |
NN |
denotes |
difficulty |
T770 |
1031-1033 |
IN |
denotes |
in |
T771 |
1034-1048 |
VBG |
denotes |
distinguishing |
T772 |
1049-1053 |
JJ |
denotes |
such |
T773 |
1054-1061 |
NNS |
denotes |
effects |
T774 |
1062-1066 |
IN |
denotes |
from |
T775 |
1067-1078 |
NN |
denotes |
environment |
T776 |
1079-1082 |
CC |
denotes |
and |
T777 |
1083-1090 |
JJ |
denotes |
genetic |
T778 |
1091-1101 |
NN |
denotes |
background |
T779 |
1101-1102 |
. |
denotes |
. |
T780 |
1102-1403 |
sentence |
denotes |
XPD encodes one of the two helicase components of basal transcription/DNA repair factor IIH (TFIIH), a ten-subunit, multifunctional complex that is essential for multiple processes, including basal transcription initiation and DNA damage repair via the nucleotide excision repair (NER) pathway [6,7]. |
T781 |
1103-1106 |
NN |
denotes |
XPD |
T782 |
1107-1114 |
VBZ |
denotes |
encodes |
T783 |
1115-1118 |
CD |
denotes |
one |
T784 |
1119-1121 |
IN |
denotes |
of |
T785 |
1122-1125 |
DT |
denotes |
the |
T786 |
1139-1149 |
NNS |
denotes |
components |
T787 |
1126-1129 |
CD |
denotes |
two |
T788 |
1130-1138 |
NN |
denotes |
helicase |
T789 |
1150-1152 |
IN |
denotes |
of |
T790 |
1153-1158 |
JJ |
denotes |
basal |
T791 |
1191-1194 |
NN |
denotes |
IIH |
T792 |
1159-1172 |
NN |
denotes |
transcription |
T793 |
1172-1173 |
HYPH |
denotes |
/ |
T794 |
1173-1176 |
NN |
denotes |
DNA |
T795 |
1177-1183 |
NN |
denotes |
repair |
T796 |
1184-1190 |
NN |
denotes |
factor |
T797 |
1195-1196 |
-LRB- |
denotes |
( |
T798 |
1196-1201 |
NN |
denotes |
TFIIH |
T799 |
1201-1202 |
-RRB- |
denotes |
) |
T800 |
1202-1204 |
, |
denotes |
, |
T801 |
1204-1205 |
DT |
denotes |
a |
T802 |
1235-1242 |
NN |
denotes |
complex |
T803 |
1206-1209 |
CD |
denotes |
ten |
T804 |
1210-1217 |
NN |
denotes |
subunit |
T805 |
1209-1210 |
HYPH |
denotes |
- |
T806 |
1217-1219 |
, |
denotes |
, |
T807 |
1219-1234 |
JJ |
denotes |
multifunctional |
T808 |
1243-1247 |
WDT |
denotes |
that |
T809 |
1248-1250 |
VBZ |
denotes |
is |
T810 |
1251-1260 |
JJ |
denotes |
essential |
T811 |
1261-1264 |
IN |
denotes |
for |
T812 |
1265-1273 |
JJ |
denotes |
multiple |
T813 |
1274-1283 |
NNS |
denotes |
processes |
T814 |
1283-1285 |
, |
denotes |
, |
T815 |
1285-1294 |
VBG |
denotes |
including |
T816 |
1295-1300 |
JJ |
denotes |
basal |
T817 |
1315-1325 |
NN |
denotes |
initiation |
T818 |
1301-1314 |
NN |
denotes |
transcription |
T819 |
1326-1329 |
CC |
denotes |
and |
T820 |
1330-1333 |
NN |
denotes |
DNA |
T821 |
1341-1347 |
NN |
denotes |
repair |
T822 |
1334-1340 |
NN |
denotes |
damage |
T823 |
1348-1351 |
IN |
denotes |
via |
T824 |
1352-1355 |
DT |
denotes |
the |
T825 |
1389-1396 |
NN |
denotes |
pathway |
T826 |
1356-1366 |
NN |
denotes |
nucleotide |
T827 |
1376-1382 |
NN |
denotes |
repair |
T828 |
1367-1375 |
NN |
denotes |
excision |
T829 |
1383-1384 |
-LRB- |
denotes |
( |
T830 |
1384-1387 |
NN |
denotes |
NER |
T831 |
1387-1388 |
-RRB- |
denotes |
) |
T832 |
1397-1398 |
-LRB- |
denotes |
[ |
T833 |
1400-1401 |
CD |
denotes |
7 |
T834 |
1398-1399 |
CD |
denotes |
6 |
T835 |
1399-1400 |
, |
denotes |
, |
T836 |
1401-1402 |
-RRB- |
denotes |
] |
T837 |
1402-1403 |
. |
denotes |
. |
T838 |
1403-1633 |
sentence |
denotes |
Alterations in XPD resulting in defective TFIIH function are associated with UV-sensitive, multisystem disorders including xeroderma pigmentosum (XP), XP combined with Cockayne syndrome (CS), and trichothiodystrophy (TTD) [8–10]. |
T839 |
1404-1415 |
NNS |
denotes |
Alterations |
T840 |
1465-1475 |
VBN |
denotes |
associated |
T841 |
1416-1418 |
IN |
denotes |
in |
T842 |
1419-1422 |
NN |
denotes |
XPD |
T843 |
1423-1432 |
VBG |
denotes |
resulting |
T844 |
1433-1435 |
IN |
denotes |
in |
T845 |
1436-1445 |
JJ |
denotes |
defective |
T846 |
1452-1460 |
NN |
denotes |
function |
T847 |
1446-1451 |
NN |
denotes |
TFIIH |
T848 |
1461-1464 |
VBP |
denotes |
are |
T849 |
1476-1480 |
IN |
denotes |
with |
T850 |
1481-1483 |
NN |
denotes |
UV |
T851 |
1484-1493 |
JJ |
denotes |
sensitive |
T852 |
1483-1484 |
HYPH |
denotes |
- |
T853 |
1507-1516 |
NNS |
denotes |
disorders |
T854 |
1493-1495 |
, |
denotes |
, |
T855 |
1495-1506 |
JJ |
denotes |
multisystem |
T856 |
1517-1526 |
VBG |
denotes |
including |
T857 |
1527-1536 |
NN |
denotes |
xeroderma |
T858 |
1537-1548 |
NN |
denotes |
pigmentosum |
T859 |
1549-1550 |
-LRB- |
denotes |
( |
T860 |
1550-1552 |
NN |
denotes |
XP |
T861 |
1552-1553 |
-RRB- |
denotes |
) |
T862 |
1553-1555 |
, |
denotes |
, |
T863 |
1555-1557 |
NN |
denotes |
XP |
T864 |
1558-1566 |
VBN |
denotes |
combined |
T865 |
1567-1571 |
IN |
denotes |
with |
T866 |
1572-1580 |
NN |
denotes |
Cockayne |
T867 |
1581-1589 |
NN |
denotes |
syndrome |
T868 |
1590-1591 |
-LRB- |
denotes |
( |
T869 |
1591-1593 |
NN |
denotes |
CS |
T870 |
1593-1594 |
-RRB- |
denotes |
) |
T871 |
1594-1596 |
, |
denotes |
, |
T872 |
1596-1599 |
CC |
denotes |
and |
T873 |
1600-1619 |
NN |
denotes |
trichothiodystrophy |
T874 |
1620-1621 |
-LRB- |
denotes |
( |
T875 |
1621-1624 |
NN |
denotes |
TTD |
T876 |
1624-1625 |
-RRB- |
denotes |
) |
T877 |
1626-1627 |
-LRB- |
denotes |
[ |
T878 |
1627-1628 |
CD |
denotes |
8 |
T879 |
1628-1629 |
SYM |
denotes |
– |
T880 |
1629-1631 |
CD |
denotes |
10 |
T881 |
1631-1632 |
-RRB- |
denotes |
] |
T882 |
1632-1633 |
. |
denotes |
. |
T884 |
1634-1636 |
NN |
denotes |
XP |
T885 |
1640-1646 |
VBN |
denotes |
marked |
T886 |
1637-1639 |
VBZ |
denotes |
is |
T887 |
1647-1649 |
IN |
denotes |
by |
T888 |
1650-1653 |
NN |
denotes |
sun |
T890 |
1653-1654 |
HYPH |
denotes |
- |
R273 |
T595 |
T596 |
amod |
lower,organisms |
R275 |
T597 |
T598 |
punct |
[,1 |
R276 |
T598 |
T596 |
parataxis |
1,organisms |
R277 |
T599 |
T598 |
punct |
],1 |
R278 |
T600 |
T590 |
punct |
", ",considered |
R279 |
T601 |
T602 |
poss |
its,potential |
R280 |
T602 |
T590 |
nsubjpass |
potential,considered |
R281 |
T603 |
T604 |
aux |
to,contribute |
R282 |
T604 |
T602 |
acl |
contribute,potential |
R283 |
T605 |
T604 |
prep |
to,contribute |
R284 |
T606 |
T607 |
amod |
clinical,heterogeneity |
R285 |
T607 |
T605 |
pobj |
heterogeneity,to |
R286 |
T608 |
T607 |
prep |
in,heterogeneity |
R287 |
T609 |
T610 |
amod |
human,disease |
R288 |
T610 |
T608 |
pobj |
disease,in |
R289 |
T611 |
T590 |
auxpass |
is,considered |
R290 |
T612 |
T590 |
advmod |
seldom,considered |
R291 |
T613 |
T590 |
punct |
.,considered |
R292 |
T615 |
T616 |
nsubjpass |
Evidence,limited |
R293 |
T617 |
T615 |
prep |
of,Evidence |
R294 |
T618 |
T619 |
amod |
interallelic,complementation |
R295 |
T619 |
T617 |
pobj |
complementation,of |
R296 |
T620 |
T619 |
prep |
at,complementation |
R297 |
T621 |
T622 |
advmod |
clinically,relevant |
R298 |
T622 |
T623 |
amod |
relevant,loci |
R299 |
T623 |
T620 |
pobj |
loci,at |
R300 |
T624 |
T616 |
auxpass |
is,limited |
R301 |
T625 |
T616 |
prep |
to,limited |
R302 |
T626 |
T627 |
amod |
biochemical,studies |
R303 |
T627 |
T625 |
pobj |
studies,to |
R304 |
T628 |
T626 |
cc |
and,biochemical |
R305 |
T629 |
T630 |
npadvmod |
cell,based |
R306 |
T630 |
T626 |
conj |
based,biochemical |
R307 |
T631 |
T630 |
punct |
-,based |
R308 |
T632 |
T627 |
prep |
of,studies |
R309 |
T633 |
T634 |
det |
a,handful |
R310 |
T634 |
T632 |
pobj |
handful,of |
R311 |
T635 |
T634 |
prep |
of,handful |
R312 |
T636 |
T637 |
amod |
metabolic,disorders |
R313 |
T637 |
T635 |
pobj |
disorders,of |
R314 |
T638 |
T637 |
prep |
with,disorders |
R315 |
T639 |
T638 |
pobj |
defects,with |
R316 |
T640 |
T639 |
prep |
in,defects |
R317 |
T641 |
T640 |
pobj |
enzymes,in |
R318 |
T642 |
T641 |
prep |
including,enzymes |
R319 |
T643 |
T644 |
compound |
propinyl,CoA |
R321 |
T645 |
T644 |
punct |
-,CoA |
R322 |
T646 |
T642 |
pobj |
carboxylase,including |
R323 |
T647 |
T648 |
punct |
[,2 |
R324 |
T648 |
T646 |
parataxis |
2,carboxylase |
R325 |
T649 |
T648 |
punct |
],2 |
R326 |
T650 |
T646 |
punct |
", ",carboxylase |
R327 |
T651 |
T652 |
compound |
argininosuccinate,lyase |
R328 |
T652 |
T646 |
conj |
lyase,carboxylase |
R329 |
T653 |
T654 |
punct |
[,3 |
R330 |
T654 |
T652 |
parataxis |
3,lyase |
R331 |
T655 |
T654 |
punct |
],3 |
R332 |
T656 |
T652 |
punct |
", ",lyase |
R333 |
T657 |
T658 |
nmod |
galactose,phosphate |
R334 |
T658 |
T662 |
compound |
phosphate,uridylyltransferase |
R335 |
T659 |
T658 |
punct |
-,phosphate |
R336 |
T660 |
T658 |
nummod |
1,phosphate |
R337 |
T661 |
T658 |
punct |
-,phosphate |
R338 |
T662 |
T652 |
conj |
uridylyltransferase,lyase |
R339 |
T663 |
T664 |
punct |
[,4 |
R340 |
T664 |
T662 |
parataxis |
4,uridylyltransferase |
R341 |
T665 |
T664 |
punct |
],4 |
R342 |
T666 |
T662 |
punct |
", ",uridylyltransferase |
R343 |
T667 |
T662 |
cc |
and,uridylyltransferase |
R344 |
T668 |
T669 |
compound |
methylmalonyl,mutase |
R346 |
T670 |
T669 |
compound |
CoA,mutase |
R347 |
T671 |
T672 |
punct |
[,5 |
R348 |
T672 |
T669 |
parataxis |
5,mutase |
R349 |
T673 |
T672 |
punct |
],5 |
R350 |
T674 |
T616 |
punct |
.,limited |
R351 |
T676 |
T677 |
amod |
Compound,heterozygotes |
R352 |
T677 |
T678 |
nsubj |
heterozygotes,are |
R353 |
T679 |
T678 |
attr |
individuals,are |
R354 |
T680 |
T679 |
acl |
carrying,individuals |
R355 |
T681 |
T682 |
nummod |
two,alleles |
R356 |
T682 |
T680 |
dobj |
alleles,carrying |
R357 |
T683 |
T682 |
amod |
different,alleles |
R358 |
T684 |
T682 |
amod |
mutant,alleles |
R359 |
T685 |
T682 |
prep |
of,alleles |
R360 |
T686 |
T687 |
det |
the,gene |
R362 |
T688 |
T687 |
amod |
same,gene |
R363 |
T689 |
T678 |
punct |
.,are |
R364 |
T691 |
T692 |
prep |
In,result |
R365 |
T693 |
T694 |
det |
the,absence |
R366 |
T694 |
T691 |
pobj |
absence,In |
R367 |
T695 |
T694 |
prep |
of,absence |
R368 |
T696 |
T697 |
det |
a,allele |
R369 |
T697 |
T695 |
pobj |
allele,of |
R370 |
T698 |
T697 |
amod |
dominant,allele |
R371 |
T699 |
T697 |
punct |
(,allele |
R372 |
T700 |
T701 |
amod |
wild,type |
R373 |
T701 |
T697 |
nmod |
type,allele |
R374 |
T702 |
T701 |
punct |
-,type |
R375 |
T703 |
T701 |
punct |
[,type |
R376 |
T704 |
T701 |
appos |
wt,type |
R377 |
T705 |
T697 |
punct |
],allele |
R378 |
T706 |
T697 |
punct |
),allele |
R379 |
T707 |
T692 |
punct |
", ",result |
R380 |
T708 |
T709 |
amod |
genetic,interactions |
R381 |
T709 |
T692 |
nsubj |
interactions,result |
R382 |
T710 |
T709 |
prep |
between,interactions |
R383 |
T711 |
T712 |
amod |
recessive,alleles |
R384 |
T712 |
T710 |
pobj |
alleles,between |
R385 |
T713 |
T709 |
punct |
(,interactions |
R386 |
T714 |
T709 |
acl |
referred,interactions |
R387 |
T715 |
T714 |
prep |
to,referred |
R388 |
T716 |
T714 |
advmod |
here,referred |
R389 |
T717 |
T714 |
prep |
as,referred |
R390 |
T718 |
T717 |
punct |
“,as |
R391 |
T719 |
T720 |
amod |
biallelic,effects |
R393 |
T721 |
T720 |
punct |
”,effects |
R394 |
T722 |
T692 |
punct |
),result |
R395 |
T723 |
T692 |
aux |
could,result |
R396 |
T724 |
T692 |
prep |
in,result |
R397 |
T725 |
T726 |
amod |
different,outcomes |
R399 |
T727 |
T726 |
amod |
phenotypic,outcomes |
R400 |
T728 |
T726 |
prep |
including,outcomes |
R401 |
T729 |
T730 |
amod |
interallelic,complementation |
R402 |
T730 |
T728 |
pobj |
complementation,including |
R403 |
T731 |
T692 |
punct |
.,result |
R404 |
T733 |
T734 |
mark |
Although,create |
R405 |
T734 |
T743 |
advcl |
create,caused |
R406 |
T735 |
T734 |
nsubj |
amelioration,create |
R407 |
T736 |
T735 |
prep |
of,amelioration |
R408 |
T737 |
T738 |
compound |
disease,symptoms |
R409 |
T738 |
T736 |
pobj |
symptoms,of |
R410 |
T739 |
T735 |
prep |
by,amelioration |
R411 |
T740 |
T741 |
amod |
interallelic,complementation |
R412 |
T741 |
T739 |
pobj |
complementation,by |
R413 |
T742 |
T734 |
aux |
would,create |
R414 |
T744 |
T745 |
det |
an,bias |
R416 |
T746 |
T745 |
compound |
ascertainment,bias |
R417 |
T747 |
T734 |
prep |
in,create |
R418 |
T748 |
T749 |
det |
the,clinic |
R419 |
T749 |
T747 |
pobj |
clinic,in |
R420 |
T750 |
T743 |
punct |
", ",caused |
R421 |
T751 |
T752 |
det |
the,lack |
R422 |
T752 |
T743 |
nsubjpass |
lack,caused |
R423 |
T753 |
T752 |
prep |
of,lack |
R424 |
T754 |
T753 |
pobj |
evidence,of |
R425 |
T755 |
T754 |
prep |
concerning,evidence |
R426 |
T756 |
T757 |
amod |
interallelic,complementation |
R427 |
T757 |
T755 |
pobj |
complementation,concerning |
R428 |
T758 |
T757 |
cc |
or,complementation |
R429 |
T759 |
T760 |
amod |
other,effects |
R431 |
T761 |
T760 |
amod |
biallelic,effects |
R432 |
T762 |
T757 |
prep |
in,complementation |
R433 |
T763 |
T764 |
amod |
human,disease |
R434 |
T764 |
T762 |
pobj |
disease,in |
R435 |
T765 |
T743 |
auxpass |
is,caused |
R436 |
T766 |
T743 |
advmod |
likely,caused |
R437 |
T767 |
T743 |
agent |
by,caused |
R438 |
T768 |
T769 |
det |
the,difficulty |
R439 |
T769 |
T767 |
pobj |
difficulty,by |
R440 |
T770 |
T769 |
prep |
in,difficulty |
R441 |
T771 |
T770 |
pcomp |
distinguishing,in |
R442 |
T772 |
T773 |
amod |
such,effects |
R443 |
T773 |
T771 |
dobj |
effects,distinguishing |
R444 |
T774 |
T771 |
prep |
from,distinguishing |
R445 |
T775 |
T774 |
pobj |
environment,from |
R446 |
T776 |
T775 |
cc |
and,environment |
R447 |
T777 |
T778 |
amod |
genetic,background |
R448 |
T778 |
T775 |
conj |
background,environment |
R449 |
T779 |
T743 |
punct |
.,caused |
R450 |
T781 |
T782 |
nsubj |
XPD,encodes |
R451 |
T783 |
T782 |
dobj |
one,encodes |
R452 |
T784 |
T783 |
prep |
of,one |
R453 |
T785 |
T786 |
det |
the,components |
R454 |
T786 |
T784 |
pobj |
components,of |
R455 |
T787 |
T786 |
nummod |
two,components |
R456 |
T788 |
T786 |
compound |
helicase,components |
R457 |
T789 |
T786 |
prep |
of,components |
R458 |
T790 |
T791 |
amod |
basal,IIH |
R459 |
T791 |
T789 |
pobj |
IIH,of |
R460 |
T792 |
T791 |
nmod |
transcription,IIH |
R461 |
T793 |
T792 |
punct |
/,transcription |
R462 |
T794 |
T795 |
compound |
DNA,repair |
R463 |
T795 |
T792 |
appos |
repair,transcription |
R464 |
T796 |
T791 |
compound |
factor,IIH |
R465 |
T797 |
T791 |
punct |
(,IIH |
R466 |
T798 |
T791 |
appos |
TFIIH,IIH |
R467 |
T799 |
T783 |
punct |
),one |
R468 |
T800 |
T783 |
punct |
", ",one |
R469 |
T801 |
T802 |
det |
a,complex |
R470 |
T802 |
T783 |
appos |
complex,one |
R471 |
T803 |
T804 |
nummod |
ten,subunit |
R472 |
T804 |
T802 |
nmod |
subunit,complex |
R473 |
T805 |
T804 |
punct |
-,subunit |
R474 |
T806 |
T802 |
punct |
", ",complex |
R475 |
T807 |
T802 |
amod |
multifunctional,complex |
R476 |
T808 |
T809 |
dep |
that,is |
R477 |
T809 |
T802 |
relcl |
is,complex |
R478 |
T810 |
T809 |
acomp |
essential,is |
R479 |
T811 |
T810 |
prep |
for,essential |
R480 |
T812 |
T813 |
amod |
multiple,processes |
R481 |
T813 |
T811 |
pobj |
processes,for |
R482 |
T814 |
T813 |
punct |
", ",processes |
R483 |
T815 |
T813 |
prep |
including,processes |
R484 |
T816 |
T817 |
amod |
basal,initiation |
R486 |
T818 |
T817 |
compound |
transcription,initiation |
R487 |
T819 |
T817 |
cc |
and,initiation |
R488 |
T820 |
T821 |
compound |
DNA,repair |
R490 |
T822 |
T821 |
compound |
damage,repair |
R491 |
T823 |
T821 |
prep |
via,repair |
R492 |
T824 |
T825 |
det |
the,pathway |
R493 |
T825 |
T823 |
pobj |
pathway,via |
R494 |
T826 |
T827 |
nmod |
nucleotide,repair |
R495 |
T827 |
T825 |
nmod |
repair,pathway |
R496 |
T828 |
T827 |
nmod |
excision,repair |
R497 |
T829 |
T827 |
punct |
(,repair |
R498 |
T830 |
T827 |
appos |
NER,repair |
R499 |
T831 |
T825 |
punct |
),pathway |
R500 |
T832 |
T833 |
punct |
[,7 |
R501 |
T833 |
T783 |
parataxis |
7,one |
R502 |
T834 |
T833 |
nummod |
6,7 |
R503 |
T835 |
T833 |
punct |
",",7 |
R504 |
T836 |
T833 |
punct |
],7 |
R505 |
T837 |
T782 |
punct |
.,encodes |
R506 |
T839 |
T840 |
nsubjpass |
Alterations,associated |
R507 |
T841 |
T839 |
prep |
in,Alterations |
R508 |
T842 |
T841 |
pobj |
XPD,in |
R509 |
T843 |
T839 |
acl |
resulting,Alterations |
R510 |
T844 |
T843 |
prep |
in,resulting |
R511 |
T845 |
T846 |
amod |
defective,function |
R513 |
T847 |
T846 |
compound |
TFIIH,function |
R514 |
T848 |
T840 |
auxpass |
are,associated |
R515 |
T849 |
T840 |
prep |
with,associated |
R516 |
T850 |
T851 |
npadvmod |
UV,sensitive |
R518 |
T852 |
T851 |
punct |
-,sensitive |
R519 |
T853 |
T849 |
pobj |
disorders,with |
R520 |
T854 |
T853 |
punct |
", ",disorders |
R521 |
T855 |
T853 |
amod |
multisystem,disorders |
R522 |
T856 |
T853 |
prep |
including,disorders |
R523 |
T857 |
T858 |
compound |
xeroderma,pigmentosum |
R524 |
T858 |
T856 |
pobj |
pigmentosum,including |
R525 |
T859 |
T858 |
punct |
(,pigmentosum |
R526 |
T860 |
T858 |
appos |
XP,pigmentosum |
R527 |
T861 |
T858 |
punct |
),pigmentosum |
R528 |
T862 |
T858 |
punct |
", ",pigmentosum |
R529 |
T863 |
T858 |
conj |
XP,pigmentosum |
R530 |
T864 |
T863 |
acl |
combined,XP |
R531 |
T865 |
T864 |
prep |
with,combined |
R532 |
T866 |
T867 |
compound |
Cockayne,syndrome |
R533 |
T867 |
T865 |
pobj |
syndrome,with |
R534 |
T868 |
T867 |
punct |
(,syndrome |
R535 |
T869 |
T867 |
appos |
CS,syndrome |
R536 |
T870 |
T863 |
punct |
),XP |
R537 |
T871 |
T863 |
punct |
", ",XP |
R538 |
T872 |
T863 |
cc |
and,XP |
R539 |
T873 |
T863 |
conj |
trichothiodystrophy,XP |
R540 |
T874 |
T873 |
punct |
(,trichothiodystrophy |
R541 |
T875 |
T873 |
appos |
TTD,trichothiodystrophy |
R542 |
T876 |
T840 |
punct |
),associated |
R543 |
T877 |
T878 |
punct |
[,8 |
R544 |
T878 |
T840 |
parataxis |
8,associated |
R545 |
T879 |
T880 |
punct |
–,10 |
R546 |
T880 |
T878 |
prep |
10,8 |
R547 |
T881 |
T878 |
punct |
],8 |
R548 |
T882 |
T840 |
punct |
.,associated |
R549 |
T884 |
T885 |
nsubjpass |
XP,marked |
R550 |
T886 |
T885 |
auxpass |
is,marked |
R551 |
T887 |
T885 |
agent |
by,marked |
R320 |
T644 |
T646 |
compound |
CoA,carboxylase |
R345 |
T669 |
T662 |
conj |
mutase,uridylyltransferase |
R361 |
T687 |
T685 |
pobj |
gene,of |
R392 |
T720 |
T717 |
pobj |
effects,as |
R398 |
T726 |
T724 |
pobj |
outcomes,in |
R415 |
T745 |
T734 |
dobj |
bias,create |
R430 |
T760 |
T757 |
conj |
effects,complementation |
R485 |
T817 |
T815 |
pobj |
initiation,including |
R489 |
T821 |
T817 |
conj |
repair,initiation |
R512 |
T846 |
T844 |
pobj |
function,in |
R517 |
T851 |
T853 |
amod |
sensitive,disorders |