Id |
Subject |
Object |
Predicate |
Lexical cue |
T9280 |
0-8 |
NN |
denotes |
Genotype |
T9282 |
8-9 |
HYPH |
denotes |
– |
T9281 |
9-18 |
NN |
denotes |
Phenotype |
T9283 |
19-32 |
NNS |
denotes |
Relationships |
T9284 |
33-35 |
IN |
denotes |
in |
T9285 |
36-39 |
NN |
denotes |
XPD |
T9286 |
40-49 |
NNS |
denotes |
Disorders |
T9287 |
49-162 |
sentence |
denotes |
According to the current monoallelic hypothesis, phenotype is determined solely by the causative allele product. |
T9288 |
50-59 |
VBG |
denotes |
According |
T9290 |
60-62 |
IN |
denotes |
to |
T9291 |
63-66 |
DT |
denotes |
the |
T9293 |
67-74 |
JJ |
denotes |
current |
T9294 |
75-86 |
JJ |
denotes |
monoallelic |
T9292 |
87-97 |
NN |
denotes |
hypothesis |
T9295 |
97-99 |
, |
denotes |
, |
T9296 |
99-108 |
NN |
denotes |
phenotype |
T9297 |
109-111 |
VBZ |
denotes |
is |
T9289 |
112-122 |
VBN |
denotes |
determined |
T9298 |
123-129 |
RB |
denotes |
solely |
T9299 |
130-132 |
IN |
denotes |
by |
T9300 |
133-136 |
DT |
denotes |
the |
T9302 |
137-146 |
JJ |
denotes |
causative |
T9303 |
147-153 |
NN |
denotes |
allele |
T9301 |
154-161 |
NN |
denotes |
product |
T9304 |
161-162 |
. |
denotes |
. |
T9305 |
162-240 |
sentence |
denotes |
If a second, different allele is present, it is considered a functional null. |
T9306 |
163-165 |
IN |
denotes |
If |
T9308 |
166-167 |
DT |
denotes |
a |
T9310 |
168-174 |
JJ |
denotes |
second |
T9311 |
174-176 |
, |
denotes |
, |
T9312 |
176-185 |
JJ |
denotes |
different |
T9309 |
186-192 |
NN |
denotes |
allele |
T9307 |
193-195 |
VBZ |
denotes |
is |
T9314 |
196-203 |
JJ |
denotes |
present |
T9315 |
203-205 |
, |
denotes |
, |
T9316 |
205-207 |
PRP |
denotes |
it |
T9317 |
208-210 |
VBZ |
denotes |
is |
T9313 |
211-221 |
VBN |
denotes |
considered |
T9318 |
222-223 |
DT |
denotes |
a |
T9320 |
224-234 |
JJ |
denotes |
functional |
T9319 |
235-239 |
NN |
denotes |
null |
T9321 |
239-240 |
. |
denotes |
. |
T9322 |
240-340 |
sentence |
denotes |
There is a lack of any correlation between the site of the XPD mutation and the resulting disorder. |
T9323 |
241-246 |
EX |
denotes |
There |
T9324 |
247-249 |
VBZ |
denotes |
is |
T9325 |
250-251 |
DT |
denotes |
a |
T9326 |
252-256 |
NN |
denotes |
lack |
T9327 |
257-259 |
IN |
denotes |
of |
T9328 |
260-263 |
DT |
denotes |
any |
T9329 |
264-275 |
NN |
denotes |
correlation |
T9330 |
276-283 |
IN |
denotes |
between |
T9331 |
284-287 |
DT |
denotes |
the |
T9332 |
288-292 |
NN |
denotes |
site |
T9333 |
293-295 |
IN |
denotes |
of |
T9334 |
296-299 |
DT |
denotes |
the |
T9336 |
300-303 |
NN |
denotes |
XPD |
T9335 |
304-312 |
NN |
denotes |
mutation |
T9337 |
313-316 |
CC |
denotes |
and |
T9338 |
317-320 |
DT |
denotes |
the |
T9340 |
321-330 |
VBG |
denotes |
resulting |
T9339 |
331-339 |
NN |
denotes |
disorder |
T9341 |
339-340 |
. |
denotes |
. |
T9342 |
340-456 |
sentence |
denotes |
We propose a biallelic hypothesis for compound heterozygotes in which both alleles can contribute to the phenotype. |
T9343 |
341-343 |
PRP |
denotes |
We |
T9344 |
344-351 |
VBP |
denotes |
propose |
T9345 |
352-353 |
DT |
denotes |
a |
T9347 |
354-363 |
JJ |
denotes |
biallelic |
T9346 |
364-374 |
NN |
denotes |
hypothesis |
T9348 |
375-378 |
IN |
denotes |
for |
T9349 |
379-387 |
NN |
denotes |
compound |
T9350 |
388-401 |
NNS |
denotes |
heterozygotes |
T9351 |
402-404 |
IN |
denotes |
in |
T9353 |
405-410 |
WDT |
denotes |
which |
T9354 |
411-415 |
DT |
denotes |
both |
T9355 |
416-423 |
NNS |
denotes |
alleles |
T9356 |
424-427 |
MD |
denotes |
can |
T9352 |
428-438 |
VB |
denotes |
contribute |
T9357 |
439-441 |
IN |
denotes |
to |
T9358 |
442-445 |
DT |
denotes |
the |
T9359 |
446-455 |
NN |
denotes |
phenotype |
T9360 |
455-456 |
. |
denotes |
. |
T9361 |
456-693 |
sentence |
denotes |
Examples of compound heterozygous patients in which a second, presumed null allele is likely to contribute to disease outcome are provided above in comparison to corresponding homo- or hemizygous patients with the same causative allele. |
T9362 |
457-465 |
NNS |
denotes |
Examples |
T9364 |
466-468 |
IN |
denotes |
of |
T9365 |
469-477 |
NN |
denotes |
compound |
T9367 |
478-490 |
JJ |
denotes |
heterozygous |
T9366 |
491-499 |
NNS |
denotes |
patients |
T9368 |
500-502 |
IN |
denotes |
in |
T9370 |
503-508 |
WDT |
denotes |
which |
T9371 |
509-510 |
DT |
denotes |
a |
T9373 |
511-517 |
JJ |
denotes |
second |
T9374 |
517-519 |
, |
denotes |
, |
T9375 |
519-527 |
JJ |
denotes |
presumed |
T9376 |
528-532 |
JJ |
denotes |
null |
T9372 |
533-539 |
NN |
denotes |
allele |
T9369 |
540-542 |
VBZ |
denotes |
is |
T9377 |
543-549 |
JJ |
denotes |
likely |
T9378 |
550-552 |
TO |
denotes |
to |
T9379 |
553-563 |
VB |
denotes |
contribute |
T9380 |
564-566 |
IN |
denotes |
to |
T9381 |
567-574 |
NN |
denotes |
disease |
T9382 |
575-582 |
NN |
denotes |
outcome |
T9383 |
583-586 |
VBP |
denotes |
are |
T9363 |
587-595 |
VBN |
denotes |
provided |
T9384 |
596-601 |
RB |
denotes |
above |
T9385 |
602-604 |
IN |
denotes |
in |
T9386 |
605-615 |
NN |
denotes |
comparison |
T9387 |
616-618 |
IN |
denotes |
to |
T9388 |
619-632 |
VBG |
denotes |
corresponding |
T9390 |
633-637 |
AFX |
denotes |
homo |
T9392 |
637-638 |
HYPH |
denotes |
- |
T9393 |
639-641 |
CC |
denotes |
or |
T9391 |
642-652 |
JJ |
denotes |
hemizygous |
T9389 |
653-661 |
NNS |
denotes |
patients |
T9394 |
662-666 |
IN |
denotes |
with |
T9395 |
667-670 |
DT |
denotes |
the |
T9397 |
671-675 |
JJ |
denotes |
same |
T9398 |
676-685 |
JJ |
denotes |
causative |
T9396 |
686-692 |
NN |
denotes |
allele |
T9399 |
692-693 |
. |
denotes |
. |
T9400 |
693-764 |
sentence |
denotes |
Numbers in the schematic of the protein indicate the helicase domains. |
T9401 |
694-701 |
NNS |
denotes |
Numbers |
T9403 |
702-704 |
IN |
denotes |
in |
T9404 |
705-708 |
DT |
denotes |
the |
T9405 |
709-718 |
NN |
denotes |
schematic |
T9406 |
719-721 |
IN |
denotes |
of |
T9407 |
722-725 |
DT |
denotes |
the |
T9408 |
726-733 |
NN |
denotes |
protein |
T9402 |
734-742 |
VBP |
denotes |
indicate |
T9409 |
743-746 |
DT |
denotes |
the |
T9411 |
747-755 |
NN |
denotes |
helicase |
T9410 |
756-763 |
NNS |
denotes |
domains |
T9412 |
763-764 |
. |
denotes |
. |
R6329 |
T9280 |
T9281 |
compound |
Genotype,Phenotype |
R6330 |
T9281 |
T9283 |
compound |
Phenotype,Relationships |
R6331 |
T9282 |
T9281 |
punct |
–,Phenotype |
R6332 |
T9284 |
T9283 |
prep |
in,Relationships |
R6333 |
T9285 |
T9286 |
compound |
XPD,Disorders |
R6334 |
T9286 |
T9284 |
pobj |
Disorders,in |
R6335 |
T9288 |
T9289 |
prep |
According,determined |
R6336 |
T9290 |
T9288 |
prep |
to,According |
R6337 |
T9291 |
T9292 |
det |
the,hypothesis |
R6338 |
T9292 |
T9290 |
pobj |
hypothesis,to |
R6339 |
T9293 |
T9292 |
amod |
current,hypothesis |
R6340 |
T9294 |
T9292 |
amod |
monoallelic,hypothesis |
R6341 |
T9295 |
T9289 |
punct |
", ",determined |
R6342 |
T9296 |
T9289 |
nsubjpass |
phenotype,determined |
R6343 |
T9297 |
T9289 |
auxpass |
is,determined |
R6344 |
T9298 |
T9299 |
advmod |
solely,by |
R6345 |
T9299 |
T9289 |
agent |
by,determined |
R6346 |
T9300 |
T9301 |
det |
the,product |
R6347 |
T9301 |
T9299 |
pobj |
product,by |
R6348 |
T9302 |
T9301 |
amod |
causative,product |
R6349 |
T9303 |
T9301 |
compound |
allele,product |
R6350 |
T9304 |
T9289 |
punct |
.,determined |
R6351 |
T9306 |
T9307 |
mark |
If,is |
R6352 |
T9307 |
T9313 |
advcl |
is,considered |
R6353 |
T9308 |
T9309 |
det |
a,allele |
R6354 |
T9309 |
T9307 |
nsubj |
allele,is |
R6355 |
T9310 |
T9309 |
amod |
second,allele |
R6356 |
T9311 |
T9309 |
punct |
", ",allele |
R6357 |
T9312 |
T9309 |
amod |
different,allele |
R6358 |
T9314 |
T9307 |
acomp |
present,is |
R6359 |
T9315 |
T9313 |
punct |
", ",considered |
R6360 |
T9316 |
T9313 |
nsubjpass |
it,considered |
R6361 |
T9317 |
T9313 |
auxpass |
is,considered |
R6362 |
T9318 |
T9319 |
det |
a,null |
R6363 |
T9319 |
T9313 |
oprd |
null,considered |
R6364 |
T9320 |
T9319 |
amod |
functional,null |
R6365 |
T9321 |
T9313 |
punct |
.,considered |
R6366 |
T9323 |
T9324 |
expl |
There,is |
R6367 |
T9325 |
T9326 |
det |
a,lack |
R6368 |
T9326 |
T9324 |
attr |
lack,is |
R6369 |
T9327 |
T9326 |
prep |
of,lack |
R6370 |
T9328 |
T9329 |
det |
any,correlation |
R6371 |
T9329 |
T9327 |
pobj |
correlation,of |
R6372 |
T9330 |
T9329 |
prep |
between,correlation |
R6373 |
T9331 |
T9332 |
det |
the,site |
R6374 |
T9332 |
T9330 |
pobj |
site,between |
R6375 |
T9333 |
T9332 |
prep |
of,site |
R6376 |
T9334 |
T9335 |
det |
the,mutation |
R6377 |
T9335 |
T9333 |
pobj |
mutation,of |
R6378 |
T9336 |
T9335 |
compound |
XPD,mutation |
R6379 |
T9337 |
T9332 |
cc |
and,site |
R6380 |
T9338 |
T9339 |
det |
the,disorder |
R6381 |
T9339 |
T9332 |
conj |
disorder,site |
R6382 |
T9340 |
T9339 |
amod |
resulting,disorder |
R6383 |
T9341 |
T9324 |
punct |
.,is |
R6384 |
T9343 |
T9344 |
nsubj |
We,propose |
R6385 |
T9345 |
T9346 |
det |
a,hypothesis |
R6386 |
T9346 |
T9344 |
dobj |
hypothesis,propose |
R6387 |
T9347 |
T9346 |
amod |
biallelic,hypothesis |
R6388 |
T9348 |
T9346 |
prep |
for,hypothesis |
R6389 |
T9349 |
T9350 |
compound |
compound,heterozygotes |
R6390 |
T9350 |
T9348 |
pobj |
heterozygotes,for |
R6391 |
T9351 |
T9352 |
prep |
in,contribute |
R6392 |
T9352 |
T9346 |
relcl |
contribute,hypothesis |
R6393 |
T9353 |
T9351 |
pobj |
which,in |
R6394 |
T9354 |
T9355 |
det |
both,alleles |
R6395 |
T9355 |
T9352 |
nsubj |
alleles,contribute |
R6396 |
T9356 |
T9352 |
aux |
can,contribute |
R6397 |
T9357 |
T9352 |
prep |
to,contribute |
R6398 |
T9358 |
T9359 |
det |
the,phenotype |
R6399 |
T9359 |
T9357 |
pobj |
phenotype,to |
R6400 |
T9360 |
T9344 |
punct |
.,propose |
R6401 |
T9362 |
T9363 |
nsubjpass |
Examples,provided |
R6402 |
T9364 |
T9362 |
prep |
of,Examples |
R6403 |
T9365 |
T9366 |
nmod |
compound,patients |
R6404 |
T9366 |
T9364 |
pobj |
patients,of |
R6405 |
T9367 |
T9366 |
amod |
heterozygous,patients |
R6406 |
T9368 |
T9369 |
prep |
in,is |
R6407 |
T9369 |
T9366 |
relcl |
is,patients |
R6408 |
T9370 |
T9368 |
pobj |
which,in |
R6409 |
T9371 |
T9372 |
det |
a,allele |
R6410 |
T9372 |
T9369 |
nsubj |
allele,is |
R6411 |
T9373 |
T9372 |
amod |
second,allele |
R6412 |
T9374 |
T9372 |
punct |
", ",allele |
R6413 |
T9375 |
T9376 |
amod |
presumed,null |
R6414 |
T9376 |
T9372 |
amod |
null,allele |
R6415 |
T9377 |
T9369 |
acomp |
likely,is |
R6416 |
T9378 |
T9379 |
aux |
to,contribute |
R6417 |
T9379 |
T9377 |
xcomp |
contribute,likely |
R6418 |
T9380 |
T9379 |
prep |
to,contribute |
R6419 |
T9381 |
T9382 |
compound |
disease,outcome |
R6420 |
T9382 |
T9380 |
pobj |
outcome,to |
R6421 |
T9383 |
T9363 |
auxpass |
are,provided |
R6422 |
T9384 |
T9363 |
advmod |
above,provided |
R6423 |
T9385 |
T9363 |
prep |
in,provided |
R6424 |
T9386 |
T9385 |
pobj |
comparison,in |
R6425 |
T9387 |
T9386 |
prep |
to,comparison |
R6426 |
T9388 |
T9389 |
amod |
corresponding,patients |
R6427 |
T9389 |
T9387 |
pobj |
patients,to |
R6428 |
T9390 |
T9391 |
advmod |
homo,hemizygous |
R6429 |
T9391 |
T9389 |
amod |
hemizygous,patients |
R6430 |
T9392 |
T9391 |
punct |
-,hemizygous |
R6431 |
T9393 |
T9391 |
cc |
or,hemizygous |
R6432 |
T9394 |
T9389 |
prep |
with,patients |
R6433 |
T9395 |
T9396 |
det |
the,allele |
R6434 |
T9396 |
T9394 |
pobj |
allele,with |
R6435 |
T9397 |
T9396 |
amod |
same,allele |
R6436 |
T9398 |
T9396 |
amod |
causative,allele |
R6437 |
T9399 |
T9363 |
punct |
.,provided |
R6438 |
T9401 |
T9402 |
nsubj |
Numbers,indicate |
R6439 |
T9403 |
T9401 |
prep |
in,Numbers |
R6440 |
T9404 |
T9405 |
det |
the,schematic |
R6441 |
T9405 |
T9403 |
pobj |
schematic,in |
R6442 |
T9406 |
T9405 |
prep |
of,schematic |
R6443 |
T9407 |
T9408 |
det |
the,protein |
R6444 |
T9408 |
T9406 |
pobj |
protein,of |
R6445 |
T9409 |
T9410 |
det |
the,domains |
R6446 |
T9410 |
T9402 |
dobj |
domains,indicate |
R6447 |
T9411 |
T9410 |
compound |
helicase,domains |
R6448 |
T9412 |
T9402 |
punct |
.,indicate |