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PubMed:9774399 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T0 133-138 gene:1666 denotes NADPH
T1 203-232 disease:C0018203 denotes chronic granulomatous disease
R1 T0 T1 associated_with NADPH,chronic granulomatous disease

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
9774399-1#10#15#gene1666 133-138 gene1666 denotes NADPH
9774399-1#80#109#diseaseC0018203 203-232 diseaseC0018203 denotes chronic granulomatous disease
9774399-1#111#114#diseaseC0018203 234-237 diseaseC0018203 denotes CGD
9774399-3#134#143#gene1536 641-650 gene1536 denotes gp91(phox
9774399-3#31#34#diseaseC0018203 538-541 diseaseC0018203 denotes CGD
10#15#gene166680#109#diseaseC0018203 9774399-1#10#15#gene1666 9774399-1#80#109#diseaseC0018203 associated_with NADPH,chronic granulomatous disease
10#15#gene1666111#114#diseaseC0018203 9774399-1#10#15#gene1666 9774399-1#111#114#diseaseC0018203 associated_with NADPH,CGD
134#143#gene153631#34#diseaseC0018203 9774399-3#134#143#gene1536 9774399-3#31#34#diseaseC0018203 associated_with gp91(phox,CGD

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-122 Sentence denotes Mutation at histidine 338 of gp91(phox) depletes FAD and affects expression of cytochrome b558 of the human NADPH oxidase.
TextSentencer_T2 123-239 Sentence denotes Defective NADPH oxidase components prevent superoxide (O-2) generation, causing chronic granulomatous disease (CGD).
TextSentencer_T3 240-506 Sentence denotes X-linked CGD patients have mutations in the gene encoding the gp91(phox) subunit of cytochrome b558 and usually lack gp91(phox) protein completely (X91(0)). gp91(phox) is considered to be a flavocytochrome that contains binding sites for NADPH, FAD, as well as heme.
TextSentencer_T4 507-741 Sentence denotes We here report a rare X-linked CGD patient whose neutrophils entirely failed to produce O-2, but presented a diminished expression of gp91(phox) containing about one-third of the heme present in normal individuals by Soret absorption.
TextSentencer_T5 742-812 Sentence denotes Translocation of cytosolic factors p67(phox) and p47(phox) was normal.
TextSentencer_T6 813-960 Sentence denotes However, the FAD content in his neutrophil membranes was as low as that of X91(0) patients, suggesting complete depletion of FAD in his gp91(phox).
TextSentencer_T7 961-1145 Sentence denotes This was in agreement with the finding that a single base substitution (C1024 to T) changed His-338 to Tyr in gp91(phox) in a predicted FAD-binding domain of the flavocytochrome model.
TextSentencer_T8 1146-1367 Sentence denotes The loss of FAD could not be corrected even after addition of reagent FAD or a FAD-rich dehydrogenase fraction isolated from normal neutrophils to the patient's membranes, in a reconstitution in vitro with normal cytosol.
TextSentencer_T9 1368-1483 Sentence denotes These results indicate that His-338 is a very critical residue for FAD incorporation into the NADPH oxidase system.
TextSentencer_T10 1484-1529 Sentence denotes This is the first such mutation found in CGD.
T1 0-122 Sentence denotes Mutation at histidine 338 of gp91(phox) depletes FAD and affects expression of cytochrome b558 of the human NADPH oxidase.
T2 123-239 Sentence denotes Defective NADPH oxidase components prevent superoxide (O-2) generation, causing chronic granulomatous disease (CGD).
T3 240-506 Sentence denotes X-linked CGD patients have mutations in the gene encoding the gp91(phox) subunit of cytochrome b558 and usually lack gp91(phox) protein completely (X91(0)). gp91(phox) is considered to be a flavocytochrome that contains binding sites for NADPH, FAD, as well as heme.
T4 507-741 Sentence denotes We here report a rare X-linked CGD patient whose neutrophils entirely failed to produce O-2, but presented a diminished expression of gp91(phox) containing about one-third of the heme present in normal individuals by Soret absorption.
T5 742-812 Sentence denotes Translocation of cytosolic factors p67(phox) and p47(phox) was normal.
T6 813-960 Sentence denotes However, the FAD content in his neutrophil membranes was as low as that of X91(0) patients, suggesting complete depletion of FAD in his gp91(phox).
T7 961-1145 Sentence denotes This was in agreement with the finding that a single base substitution (C1024 to T) changed His-338 to Tyr in gp91(phox) in a predicted FAD-binding domain of the flavocytochrome model.
T8 1146-1367 Sentence denotes The loss of FAD could not be corrected even after addition of reagent FAD or a FAD-rich dehydrogenase fraction isolated from normal neutrophils to the patient's membranes, in a reconstitution in vitro with normal cytosol.
T9 1368-1483 Sentence denotes These results indicate that His-338 is a very critical residue for FAD incorporation into the NADPH oxidase system.
T10 1484-1529 Sentence denotes This is the first such mutation found in CGD.

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 203-232 ORDO:379 denotes chronic granulomatous disease
AB2 234-237 ORDO:379 denotes CGD
AB3 249-252 ORDO:379 denotes CGD
AB4 538-541 ORDO:379 denotes CGD
AB5 1525-1528 ORDO:379 denotes CGD

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 203-232 Disease denotes chronic granulomatous disease http://purl.obolibrary.org/obo/MONDO_0018305
T2 234-237 Disease denotes CGD http://purl.obolibrary.org/obo/MONDO_0010600|http://purl.obolibrary.org/obo/MONDO_0018305
T4 249-252 Disease denotes CGD http://purl.obolibrary.org/obo/MONDO_0010600|http://purl.obolibrary.org/obo/MONDO_0018305
T6 538-541 Disease denotes CGD http://purl.obolibrary.org/obo/MONDO_0010600|http://purl.obolibrary.org/obo/MONDO_0018305
T8 1525-1528 Disease denotes CGD http://purl.obolibrary.org/obo/MONDO_0010600|http://purl.obolibrary.org/obo/MONDO_0018305

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 102-107 OrganismTaxon denotes human 9606
T2 542-549 OrganismTaxon denotes patient 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 556-567 Body_part denotes neutrophils http://purl.obolibrary.org/obo/CL_0000775
T2 845-855 Body_part denotes neutrophil http://purl.obolibrary.org/obo/CL_0000775
T3 856-865 Body_part denotes membranes http://purl.obolibrary.org/obo/GO_0016020|http://purl.obolibrary.org/obo/UBERON_0000094|http://purl.obolibrary.org/obo/UBERON_0000158
T6 1278-1289 Body_part denotes neutrophils http://purl.obolibrary.org/obo/CL_0000775
T7 1307-1316 Body_part denotes membranes http://purl.obolibrary.org/obo/GO_0016020|http://purl.obolibrary.org/obo/UBERON_0000094|http://purl.obolibrary.org/obo/UBERON_0000158
T10 1359-1366 Body_part denotes cytosol http://purl.obolibrary.org/obo/GO_0005829

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 556-567 Cell denotes neutrophils http://purl.obolibrary.org/obo/CL:0000775
T2 845-855 Cell denotes neutrophil http://purl.obolibrary.org/obo/CL:0000775
T3 1278-1289 Cell denotes neutrophils http://purl.obolibrary.org/obo/CL:0000775