PubMed:9472666
Annnotations
NCBI-Disease-Corpus-GPT5-withguidelines
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 35-69 | SpecificDisease | denotes | complement component C6 deficiency |
| T2 | 101-135 | SpecificDisease | denotes | Complement component C6 deficiency |
| T3 | 137-140 | SpecificDisease | denotes | C6D |
| T4 | 200-224 | SpecificDisease | denotes | meningococcal meningitis |
| T5 | 273-276 | SpecificDisease | denotes | C6D |
| T6 | 301-311 | SpecificDisease | denotes | meningitis |
| T7 | 321-341 | DiseaseClass | denotes | neisserial infection |
| T8 | 721-724 | SpecificDisease | denotes | C6D |
NCBI-Disease-Corpus-GPT5-noguidelines
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 35-69 | SpecificDisease | denotes | complement component C6 deficiency |
| T2 | 101-135 | SpecificDisease | denotes | Complement component C6 deficiency |
| T3 | 137-140 | SpecificDisease | denotes | C6D |
| T4 | 200-224 | SpecificDisease | denotes | meningococcal meningitis |
| T5 | 273-276 | SpecificDisease | denotes | C6D |
| T6 | 287-289 | Modifier | denotes | no |
| T7 | 301-311 | SpecificDisease | denotes | meningitis |
| T8 | 321-341 | DiseaseClass | denotes | neisserial infection |
| T9 | 721-724 | SpecificDisease | denotes | C6D |
NCBI-Disease-Corpus-GPT5-guidelineprompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 35-69 | SpecificDisease | denotes | complement component C6 deficiency |
| T2 | 101-135 | SpecificDisease | denotes | Complement component C6 deficiency |
| T3 | 137-140 | SpecificDisease | denotes | C6D |
| T4 | 200-224 | SpecificDisease | denotes | meningococcal meningitis |
| T5 | 273-276 | SpecificDisease | denotes | C6D |
| T6 | 301-311 | SpecificDisease | denotes | meningitis |
| T7 | 321-341 | DiseaseClass | denotes | neisserial infection |
| T8 | 721-724 | SpecificDisease | denotes | C6D |
NCBI-Disease-Corpus-Moderated1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 35-69 | SpecificDisease | denotes | complement component C6 deficiency |
| T2 | 101-135 | SpecificDisease | denotes | Complement component C6 deficiency |
| T3 | 137-140 | SpecificDisease | denotes | C6D |
| T4 | 200-224 | SpecificDisease | denotes | meningococcal meningitis |
| T5 | 273-276 | SpecificDisease | denotes | C6D |
| T6 | 301-311 | SpecificDisease | denotes | meningitis |
| T7 | 321-341 | DiseaseClass | denotes | neisserial infection |
| T8 | 721-724 | SpecificDisease | denotes | C6D |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-100 | Sentence | denotes | Molecular defects leading to human complement component C6 deficiency in an African-American family. |
| TextSentencer_T2 | 101-225 | Sentence | denotes | Complement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. |
| TextSentencer_T3 | 226-342 | Sentence | denotes | The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. |
| TextSentencer_T4 | 343-586 | Sentence | denotes | By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. |
| TextSentencer_T5 | 587-769 | Sentence | denotes | The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. |
| TextSentencer_T6 | 770-844 | Sentence | denotes | Both mutations result in premature termination codons and C6 null alleles. |
| TextSentencer_T7 | 845-1030 | Sentence | denotes | Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father. |
| T1 | 0-100 | Sentence | denotes | Molecular defects leading to human complement component C6 deficiency in an African-American family. |
| T2 | 101-225 | Sentence | denotes | Complement component C6 deficiency (C6D) was diagnosed in a 16-year-old African-American male with meningococcal meningitis. |
| T3 | 226-342 | Sentence | denotes | The patient's father and two brothers also had C6D, but gave no history of meningitis or other neisserial infection. |
| T4 | 343-586 | Sentence | denotes | By using exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism as a screening step and nucleotide sequencing of target exons, we determined that the proband was a compound heterozygote for two C6 gene mutations. |
| T5 | 587-769 | Sentence | denotes | The first, 1195delC located in exon 7, is a novel mutation, while the second, 1936delG in exon 12, has been described before to cause C6D in an unrelated African-American individual. |
| T6 | 770-844 | Sentence | denotes | Both mutations result in premature termination codons and C6 null alleles. |
| T7 | 845-1030 | Sentence | denotes | Allele-specific PCR indicated that the proband's two brothers also inherited the 1195delC mutation from their heterozygous mother and the 1936delG mutation from their homozygous father. |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 214-224 | HP:0001287 | denotes | meningitis |
| AB2 | 301-311 | HP:0001287 | denotes | meningitis |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 200-224 | ORDO:33475 | denotes | meningococcal meningitis |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 35-69 | SpecificDisease:OMIM:612446 | denotes | complement component C6 deficiency |
| T2 | 101-135 | SpecificDisease:OMIM:612446 | denotes | Complement component C6 deficiency |
| T3 | 137-140 | SpecificDisease:OMIM:612446 | denotes | C6D |
| T4 | 200-224 | SpecificDisease:D008585 | denotes | meningococcal meningitis |
| T5 | 273-276 | SpecificDisease:OMIM:612446 | denotes | C6D |
| T6 | 301-311 | SpecificDisease:D008581 | denotes | meningitis |
| T7 | 321-341 | SpecificDisease:D016870 | denotes | neisserial infection |
| T8 | 721-724 | SpecificDisease:OMIM:612446 | denotes | C6D |
NCBI-Disease-Test
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T278 | 35-69 | SpecificDisease | denotes | complement component C6 deficiency | OMIM:612446 |
| T279 | 101-135 | SpecificDisease | denotes | Complement component C6 deficiency | OMIM:612446 |
| T280 | 137-140 | SpecificDisease | denotes | C6D | OMIM:612446 |
| T281 | 200-224 | SpecificDisease | denotes | meningococcal meningitis | D008585 |
| T282 | 273-276 | SpecificDisease | denotes | C6D | OMIM:612446 |
| T283 | 301-311 | SpecificDisease | denotes | meningitis | D008581 |
| T284 | 321-341 | SpecificDisease | denotes | neisserial infection | D016870 |
| T285 | 721-724 | SpecificDisease | denotes | C6D | OMIM:612446 |
NCBI-Disease-Test-Assistant-Knowledge
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 122-141 | SpecificDisease | denotes | C6 deficiency (C6D) |
| T2 | 200-224 | SpecificDisease | denotes | meningococcal meningitis |
| T3 | 273-276 | SpecificDisease | denotes | C6D |
| T4 | 301-311 | SpecificDisease | denotes | meningitis |
| T5 | 321-341 | DiseaseClass | denotes | neisserial infection |
| T6 | 721-724 | SpecificDisease | denotes | C6D |
NCBI-Disease-Test-4o-NoGuidelineInPrompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 56-69 | SpecificDisease | denotes | C6 deficiency |
| T2 | 122-141 | SpecificDisease | denotes | C6 deficiency (C6D) |
| T3 | 200-224 | SpecificDisease | denotes | meningococcal meningitis |
| T4 | 273-276 | SpecificDisease | denotes | C6D |
| T5 | 301-311 | SpecificDisease | denotes | meningitis |
| T6 | 321-341 | DiseaseClass | denotes | neisserial infection |
| T7 | 721-724 | SpecificDisease | denotes | C6D |
NCBI-Disease-Corpus-o3-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 35-69 | SpecificDisease | denotes | complement component C6 deficiency |
| T2 | 101-135 | SpecificDisease | denotes | Complement component C6 deficiency |
| T3 | 137-140 | SpecificDisease | denotes | C6D |
| T4 | 200-224 | SpecificDisease | denotes | meningococcal meningitis |
| T5 | 273-276 | SpecificDisease | denotes | C6D |
| T6 | 301-311 | SpecificDisease | denotes | meningitis |
| T7 | 321-341 | SpecificDisease | denotes | neisserial infection |
| T8 | 721-724 | SpecificDisease | denotes | C6D |
NCBI-Disease-Corpus-high-o3-1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 29-69 | SpecificDisease | denotes | human complement component C6 deficiency |
| T2 | 101-135 | SpecificDisease | denotes | Complement component C6 deficiency |
| T3 | 137-140 | SpecificDisease | denotes | C6D |
| T4 | 200-224 | SpecificDisease | denotes | meningococcal meningitis |
| T5 | 273-276 | SpecificDisease | denotes | C6D |
| T6 | 301-311 | SpecificDisease | denotes | meningitis |
| T7 | 321-341 | DiseaseClass | denotes | neisserial infection |
| T8 | 721-724 | SpecificDisease | denotes | C6D |
NCBI-Disease-Corpus-high-o3-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 35-69 | SpecificDisease | denotes | complement component C6 deficiency |
| T2 | 101-135 | SpecificDisease | denotes | Complement component C6 deficiency |
| T3 | 137-140 | SpecificDisease | denotes | C6D |
| T4 | 200-224 | SpecificDisease | denotes | meningococcal meningitis |
| T5 | 273-276 | SpecificDisease | denotes | C6D |
| T6 | 721-724 | SpecificDisease | denotes | C6D |
NCBI-Disease-Test-4o-GuidelineInPrompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 56-69 | SpecificDisease | denotes | C6 deficiency |
| T2 | 122-135 | SpecificDisease | denotes | C6 deficiency |
| T3 | 200-224 | SpecificDisease | denotes | meningococcal meningitis |
| T4 | 273-276 | SpecificDisease | denotes | C6D |
| T5 | 301-311 | SpecificDisease | denotes | meningitis |
| T6 | 321-341 | Modifier | denotes | neisserial infection |
| T7 | 721-724 | SpecificDisease | denotes | C6D |
NCBI-Disease-Corpus-UpdatedGuideline
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 35-69 | SpecificDisease | denotes | complement component C6 deficiency |
| T2 | 101-135 | SpecificDisease | denotes | Complement component C6 deficiency |
| T3 | 137-140 | SpecificDisease | denotes | C6D |
| T4 | 200-224 | SpecificDisease | denotes | meningococcal meningitis |
| T5 | 273-276 | SpecificDisease | denotes | C6D |
| T6 | 301-311 | SpecificDisease | denotes | meningitis |
| T7 | 321-341 | DiseaseClass | denotes | neisserial infection |
| T8 | 721-724 | SpecificDisease | denotes | C6D |
NCBI-Disease-Corpus-humanintheloop
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 56-69 | SpecificDisease | denotes | C6 deficiency |
| T2 | 122-135 | SpecificDisease | denotes | C6 deficiency |
| T3 | 137-140 | SpecificDisease | denotes | C6D |
| T4 | 200-224 | SpecificDisease | denotes | meningococcal meningitis |
| T5 | 273-276 | SpecificDisease | denotes | C6D |
| T6 | 301-311 | SpecificDisease | denotes | meningitis |
| T7 | 721-724 | SpecificDisease | denotes | C6D |
NCBI-Disease-Corpus-rezarta1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 35-69 | SpecificDisease | denotes | complement component C6 deficiency |
| T2 | 101-141 | SpecificDisease | denotes | Complement component C6 deficiency (C6D) |
| T3 | 200-224 | SpecificDisease | denotes | meningococcal meningitis |
| T4 | 273-276 | SpecificDisease | denotes | C6D |
| T5 | 301-311 | SpecificDisease | denotes | meningitis |
| T6 | 721-724 | SpecificDisease | denotes | C6D |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T278 | 35-69 | SpecificDisease | denotes | complement component C6 deficiency | OMIM:612446 |
| T279 | 101-135 | SpecificDisease | denotes | Complement component C6 deficiency | OMIM:612446 |
| T280 | 137-140 | SpecificDisease | denotes | C6D | OMIM:612446 |
| T281 | 200-224 | SpecificDisease | denotes | meningococcal meningitis | D008585 |
| T282 | 273-276 | SpecificDisease | denotes | C6D | OMIM:612446 |
| T283 | 301-311 | SpecificDisease | denotes | meningitis | D008581 |
| T284 | 321-341 | SpecificDisease | denotes | neisserial infection | D016870 |
| T285 | 721-724 | SpecificDisease | denotes | C6D | OMIM:612446 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 56-69 | SpecificDisease | denotes | C6 deficiency |
| T2 | 122-135 | SpecificDisease | denotes | C6 deficiency |
| T3 | 137-140 | SpecificDisease | denotes | C6D |
| T4 | 200-224 | SpecificDisease | denotes | meningococcal meningitis |
| T5 | 273-276 | SpecificDisease | denotes | C6D |
| T6 | 301-311 | SpecificDisease | denotes | meningitis |
| T7 | 321-341 | SpecificDisease | denotes | neisserial infection |
| T8 | 721-724 | SpecificDisease | denotes | C6D |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 35-69 | SpecificDisease | denotes | complement component C6 deficiency |
| T2 | 101-135 | SpecificDisease | denotes | Complement component C6 deficiency |
| T3 | 137-140 | SpecificDisease | denotes | C6D |
| T4 | 200-224 | SpecificDisease | denotes | meningococcal meningitis |
| T5 | 273-276 | SpecificDisease | denotes | C6D |
| T6 | 301-311 | SpecificDisease | denotes | meningitis |
| T7 | 721-724 | SpecificDisease | denotes | C6D |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 56-69 | SpecificDisease | denotes | C6 deficiency |
| T2 | 122-135 | SpecificDisease | denotes | C6 deficiency |
| T3 | 200-224 | SpecificDisease | denotes | meningococcal meningitis |
| T4 | 273-276 | SpecificDisease | denotes | C6D |
| T5 | 301-311 | Modifier | denotes | meningitis |
| T6 | 321-341 | Modifier | denotes | neisserial infection |
| T7 | 721-724 | SpecificDisease | denotes | C6D |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 56-69 | SpecificDisease | denotes | C6 deficiency |
| T2 | 101-141 | SpecificDisease | denotes | Complement component C6 deficiency (C6D) |
| T3 | 200-224 | SpecificDisease | denotes | meningococcal meningitis |
| T4 | 273-276 | SpecificDisease | denotes | C6D |
| T5 | 301-311 | SpecificDisease | denotes | meningitis |
| T6 | 321-341 | DiseaseClass | denotes | neisserial infection |
| T7 | 721-724 | SpecificDisease | denotes | C6D |
123456
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 56-69 | SpecificDisease | denotes | C6 deficiency |
| T2 | 122-135 | SpecificDisease | denotes | C6 deficiency |
| T3 | 137-140 | SpecificDisease | denotes | C6D |
| T4 | 200-224 | SpecificDisease | denotes | meningococcal meningitis |
| T5 | 273-276 | SpecificDisease | denotes | C6D |
| T6 | 301-311 | SpecificDisease | denotes | meningitis |
| T7 | 721-724 | SpecificDisease | denotes | C6D |
12345
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 35-69 | SpecificDisease | denotes | complement component C6 deficiency |
| T2 | 101-135 | SpecificDisease | denotes | Complement component C6 deficiency |
| T3 | 137-140 | SpecificDisease | denotes | C6D |
| T4 | 200-224 | SpecificDisease | denotes | meningococcal meningitis |
| T5 | 273-276 | SpecificDisease | denotes | C6D |
| T6 | 301-311 | DiseaseClass | denotes | meningitis |
| T7 | 321-341 | DiseaseClass | denotes | neisserial infection |
| T8 | 721-724 | SpecificDisease | denotes | C6D |