Id |
Subject |
Object |
Predicate |
Lexical cue |
db_id |
8694 |
35-59 |
DiseaseOrPhenotypicFeature |
denotes |
Sjögren-Larsson syndrome |
MESH:D016111 |
8695 |
61-85 |
DiseaseOrPhenotypicFeature |
denotes |
Sjögren-Larsson syndrome |
MESH:D016111 |
8696 |
87-90 |
DiseaseOrPhenotypicFeature |
denotes |
SLS |
MESH:D016111 |
8697 |
98-126 |
DiseaseOrPhenotypicFeature |
denotes |
autosomal recessive disorder |
MESH:D030342 |
8698 |
144-154 |
DiseaseOrPhenotypicFeature |
denotes |
ichthyosis |
MESH:D007057 |
8699 |
156-174 |
DiseaseOrPhenotypicFeature |
denotes |
mental retardation |
MESH:D008607 |
8700 |
176-186 |
DiseaseOrPhenotypicFeature |
denotes |
spasticity |
MESH:D009128 |
8701 |
208-215 |
GeneOrGeneProduct |
denotes |
ALDH3A2 |
NCBIGene:224 |
8702 |
225-253 |
GeneOrGeneProduct |
denotes |
fatty aldehyde dehydrogenase |
NCBIGene:224 |
8703 |
297-311 |
ChemicalEntity |
denotes |
fatty aldehyde |
MESH:C001634 |
8704 |
315-325 |
ChemicalEntity |
denotes |
fatty acid |
MESH:D005227 |
8705 |
374-377 |
DiseaseOrPhenotypicFeature |
denotes |
SLS |
MESH:D016111 |
8706 |
378-386 |
OrganismTaxon |
denotes |
patients |
NCBITaxon:9606 |
8707 |
516-519 |
DiseaseOrPhenotypicFeature |
denotes |
SLS |
MESH:D016111 |
8708 |
520-528 |
OrganismTaxon |
denotes |
patients |
NCBITaxon:9606 |
8709 |
595-602 |
GeneOrGeneProduct |
denotes |
ALDH3A2 |
NCBIGene:224 |
8710 |
750-753 |
DiseaseOrPhenotypicFeature |
denotes |
SLS |
MESH:D016111 |
8711 |
782-797 |
SequenceVariant |
denotes |
352-kb deletion |
c|DEL||352K |
8712 |
808-821 |
GeneOrGeneProduct |
denotes |
ALDH3A2 and 4 |
NCBIGene:223|NCBIGene:224 |
8713 |
849-856 |
GeneOrGeneProduct |
denotes |
ALDH3A1 |
NCBIGene:218 |
8714 |
928-943 |
DiseaseOrPhenotypicFeature |
denotes |
corneal disease |
MESH:D003316 |
8715 |
975-978 |
DiseaseOrPhenotypicFeature |
denotes |
SLS |
MESH:D016111 |
8716 |
1084-1091 |
OrganismTaxon |
denotes |
patient |
NCBITaxon:9606 |
8717 |
1126-1158 |
SequenceVariant |
denotes |
1.44-Mb contiguous gene deletion |
c|DEL||1.44M |
8718 |
1184-1192 |
SequenceVariant |
denotes |
c.407C>T |
c|SUB|C|407|T |
8719 |
1194-1199 |
SequenceVariant |
denotes |
P136L |
p|SUB|P|136|L |
8720 |
1204-1211 |
GeneOrGeneProduct |
denotes |
ALDH3A2 |
NCBIGene:224 |
8721 |
1311-1314 |
DiseaseOrPhenotypicFeature |
denotes |
SLS |
MESH:D016111 |
8722 |
1410-1418 |
OrganismTaxon |
denotes |
patients |
NCBITaxon:9606 |
8723 |
1424-1427 |
DiseaseOrPhenotypicFeature |
denotes |
SLS |
MESH:D016111 |
8724 |
1438-1465 |
DiseaseOrPhenotypicFeature |
denotes |
inborn errors of metabolism |
MESH:D008661 |