| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T-0 |
8-36 |
VAR |
denotes |
homozygous nonsense mutation |
| T-1 |
40-46 |
GENE |
denotes |
VPS13B |
| T-2 |
97-111 |
DISEASE |
denotes |
Cohen syndrome |
| T-3 |
113-132 |
DISEASE |
denotes |
Cohen syndrome (CS) |
| T-4 |
188-197 |
VAR |
denotes |
mutations |
| T-5 |
205-242 |
GENE |
denotes |
vacuolar protein sorting 13 homolog B |
| T-6 |
244-250 |
GENE |
denotes |
VPS13B |
| T-7 |
261-265 |
GENE |
denotes |
COH1 |
| T-8 |
376-382 |
DISEASE |
denotes |
myopia |
| T-9 |
427-434 |
DISEASE |
denotes |
obesity |
| T-10 |
436-448 |
DISEASE |
denotes |
microcephaly |
| T-11 |
485-494 |
DISEASE |
denotes |
scoliosis |
| T-12 |
531-542 |
DISEASE |
denotes |
retinopathy |
| T-13 |
555-566 |
DISEASE |
denotes |
neutropenia |
| T-14 |
591-619 |
VAR |
denotes |
homozygous nonsense mutation |
| T-15 |
627-633 |
GENE |
denotes |
VPS13B |
| T-16 |
846-848 |
DISEASE |
denotes |
CS |
| T-17 |
884-903 |
DISEASE |
denotes |
congenital alacrima |
| T-18 |
908-918 |
DISEASE |
denotes |
anhidrosis |
| T-19 |
1081-1109 |
VAR |
denotes |
homozygous nonsense mutation |
| T-20 |
1110-1117 |
VAR |
denotes |
c.62T>G |
| T-21 |
1119-1130 |
VAR |
denotes |
NM_152564.4 |
| T-22 |
1133-1143 |
VAR |
denotes |
p.(Leu21*) |
| T-23 |
1151-1157 |
GENE |
denotes |
VPS13B |
| T-24 |
1223-1225 |
DISEASE |
denotes |
CS |
| T-25 |
1267-1275 |
DISEASE |
denotes |
alacrima |
| T-26 |
1280-1290 |
DISEASE |
denotes |
anhidrosis |
| T-27 |
1330-1332 |
DISEASE |
denotes |
CS |
| T-28 |
1357-1385 |
VAR |
denotes |
homozygous nonsense mutation |
| T-29 |
1393-1399 |
GENE |
denotes |
VPS13B |
| R-0 |
T-1 |
T-0 |
ThemeOf |
VPS13B,homozygous nonsense mutation |
| R-1 |
T-0 |
T-2 |
CauseOf |
homozygous nonsense mutation,Cohen syndrome |
| R-10 |
T-23 |
T-19 |
ThemeOf |
VPS13B,homozygous nonsense mutation |
| R-11 |
T-23 |
T-20 |
ThemeOf |
VPS13B,c.62T>G |
| R-12 |
T-23 |
T-21 |
ThemeOf |
VPS13B,NM_152564.4 |
| R-13 |
T-29 |
T-28 |
ThemeOf |
VPS13B,homozygous nonsense mutation |
| R-2 |
T-27 |
T-26 |
ThemeOf |
CS,anhidrosis |
| R-3 |
T-27 |
T-25 |
ThemeOf |
CS,alacrima |
| R-4 |
T-27 |
T-28 |
ThemeOf |
CS,homozygous nonsense mutation |
| R-5 |
T-5 |
T-4 |
ThemeOf |
vacuolar protein sorting 13 homolog B,mutations |
| R-6 |
T-4 |
T-3 |
CauseOf |
mutations,Cohen syndrome (CS) |
| R-7 |
T-6 |
T-4 |
ThemeOf |
VPS13B,mutations |
| R-8 |
T-7 |
T-4 |
ThemeOf |
COH1,mutations |
| R-9 |
T-15 |
T-14 |
ThemeOf |
VPS13B,homozygous nonsense mutation |