PubMed:9482572
Annnotations
NCBI-Disease-Corpus-GPT5-withguidelines
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-77 | SpecificDisease | denotes | aniridia |
| T2 | 120-135 | SpecificDisease | denotes | Peter's anomaly |
| T3 | 142-162 | SpecificDisease | denotes | congenital cataracts |
| T4 | 169-197 | SpecificDisease | denotes | autosomal dominant keratitis |
| T5 | 208-234 | SpecificDisease | denotes | isolated foveal hypoplasia |
| T6 | 296-304 | SpecificDisease | denotes | aniridia |
NCBI-Disease-Corpus-GPT5-noguidelines
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-77 | SpecificDisease | denotes | aniridia |
| T2 | 120-135 | SpecificDisease | denotes | Peter's anomaly |
| T3 | 142-162 | SpecificDisease | denotes | congenital cataracts |
| T4 | 169-197 | SpecificDisease | denotes | autosomal dominant keratitis |
| T5 | 208-234 | SpecificDisease | denotes | isolated foveal hypoplasia |
| T6 | 296-304 | SpecificDisease | denotes | aniridia |
NCBI-Disease-Corpus-GPT5-guidelineprompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-77 | SpecificDisease | denotes | aniridia |
| T2 | 120-135 | SpecificDisease | denotes | Peter's anomaly |
| T3 | 142-162 | SpecificDisease | denotes | congenital cataracts |
| T4 | 169-197 | DiseaseClass | denotes | autosomal dominant keratitis |
| T5 | 208-234 | SpecificDisease | denotes | isolated foveal hypoplasia |
| T6 | 296-304 | SpecificDisease | denotes | aniridia |
NCBI-Disease-Corpus-Moderated1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-77 | SpecificDisease | denotes | aniridia |
| T2 | 120-135 | SpecificDisease | denotes | Peter's anomaly |
| T3 | 142-162 | SpecificDisease | denotes | congenital cataracts |
| T4 | 169-197 | SpecificDisease | denotes | autosomal dominant keratitis |
| T5 | 208-234 | SpecificDisease | denotes | isolated foveal hypoplasia |
| T6 | 296-304 | SpecificDisease | denotes | aniridia |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 38-42 | gene:5080 | denotes | PAX6 |
| T1 | 208-234 | disease:C1850993 | denotes | isolated foveal hypoplasia |
| T2 | 38-42 | gene:5080 | denotes | PAX6 |
| T3 | 69-77 | disease:C0003076 | denotes | aniridia |
| T4 | 38-42 | gene:5080 | denotes | PAX6 |
| T5 | 188-197 | disease:C0022568 | denotes | keratitis |
| T6 | 38-42 | gene:5080 | denotes | PAX6 |
| T7 | 142-162 | disease:C0009691 | denotes | congenital cataracts |
| T8 | 310-314 | gene:5080 | denotes | PAX6 |
| T9 | 296-304 | disease:C0003076 | denotes | aniridia |
| R1 | T0 | T1 | associated_with | PAX6,isolated foveal hypoplasia |
| R2 | T2 | T3 | associated_with | PAX6,aniridia |
| R3 | T4 | T5 | associated_with | PAX6,keratitis |
| R4 | T6 | T7 | associated_with | PAX6,congenital cataracts |
| R5 | T8 | T9 | associated_with | PAX6,aniridia |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 9482572-1#13#17#gene5080 | 38-42 | gene5080 | denotes | PAX6 |
| 9482572-1#44#52#diseaseC0003076 | 69-77 | diseaseC0003076 | denotes | aniridia |
| 9482572-1#95#110#diseaseC0344559 | 120-135 | diseaseC0344559 | denotes | Peter's anomaly |
| 9482572-1#117#137#diseaseC0009691 | 142-162 | diseaseC0009691 | denotes | congenital cataracts |
| 9482572-1#183#209#diseaseC1850993 | 208-234 | diseaseC1850993 | denotes | isolated foveal hypoplasia |
| 13#17#gene508044#52#diseaseC0003076 | 9482572-1#13#17#gene5080 | 9482572-1#44#52#diseaseC0003076 | associated_with | PAX6,aniridia |
| 13#17#gene508095#110#diseaseC0344559 | 9482572-1#13#17#gene5080 | 9482572-1#95#110#diseaseC0344559 | associated_with | PAX6,Peter's anomaly |
| 13#17#gene5080117#137#diseaseC0009691 | 9482572-1#13#17#gene5080 | 9482572-1#117#137#diseaseC0009691 | associated_with | PAX6,congenital cataracts |
| 13#17#gene5080183#209#diseaseC1850993 | 9482572-1#13#17#gene5080 | 9482572-1#183#209#diseaseC1850993 | associated_with | PAX6,isolated foveal hypoplasia |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-77 | SpecificDisease:D015783 | denotes | aniridia |
| T2 | 120-135 | SpecificDisease:C537884 | denotes | Peter's anomaly |
| T3 | 142-162 | SpecificDisease:D002386 | denotes | congenital cataracts |
| T4 | 169-197 | SpecificDisease:C537022 | denotes | autosomal dominant keratitis |
| T5 | 208-234 | SpecificDisease:OMIM:136520 | denotes | isolated foveal hypoplasia |
| T6 | 296-304 | SpecificDisease:D015783 | denotes | aniridia |
NCBI-Disease-Test
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T366 | 69-77 | SpecificDisease | denotes | aniridia | D015783 |
| T367 | 120-135 | SpecificDisease | denotes | Peter's anomaly | C537884 |
| T368 | 142-162 | SpecificDisease | denotes | congenital cataracts | D002386 |
| T369 | 169-197 | SpecificDisease | denotes | autosomal dominant keratitis | C537022 |
| T370 | 208-234 | SpecificDisease | denotes | isolated foveal hypoplasia | OMIM:136520 |
| T371 | 296-304 | SpecificDisease | denotes | aniridia | D015783 |
NCBI-Disease-Test-Assistant-Knowledge
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-77 | SpecificDisease | denotes | aniridia |
| T2 | 120-135 | SpecificDisease | denotes | Peter's anomaly |
| T3 | 142-162 | CompositeMention | denotes | congenital cataracts |
| T4 | 169-197 | CompositeMention | denotes | autosomal dominant keratitis |
| T5 | 208-234 | CompositeMention | denotes | isolated foveal hypoplasia |
| T6 | 296-304 | SpecificDisease | denotes | aniridia |
NCBI-Disease-Test-4o-NoGuidelineInPrompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-77 | SpecificDisease | denotes | aniridia |
| T2 | 120-135 | SpecificDisease | denotes | Peter's anomaly |
| T3 | 142-162 | CompositeMention | denotes | congenital cataracts |
| T4 | 169-197 | CompositeMention | denotes | autosomal dominant keratitis |
| T5 | 208-234 | CompositeMention | denotes | isolated foveal hypoplasia |
| T6 | 296-304 | SpecificDisease | denotes | aniridia |
| T7 | 1087-1097 | Modifier | denotes | phenotypes |
NCBI-Disease-Corpus-o3-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-77 | SpecificDisease | denotes | aniridia |
| T2 | 120-135 | SpecificDisease | denotes | Peter's anomaly |
| T3 | 142-162 | SpecificDisease | denotes | congenital cataracts |
| T4 | 169-197 | SpecificDisease | denotes | autosomal dominant keratitis |
| T5 | 208-234 | SpecificDisease | denotes | isolated foveal hypoplasia |
| T6 | 296-304 | SpecificDisease | denotes | aniridia |
NCBI-Disease-Corpus-high-o3-1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 63-77 | SpecificDisease | denotes | human aniridia |
| T2 | 120-135 | SpecificDisease | denotes | Peter's anomaly |
| T3 | 142-162 | SpecificDisease | denotes | congenital cataracts |
| T4 | 169-197 | SpecificDisease | denotes | autosomal dominant keratitis |
| T5 | 208-234 | SpecificDisease | denotes | isolated foveal hypoplasia |
| T6 | 296-304 | SpecificDisease | denotes | aniridia |
NCBI-Disease-Corpus-high-o3-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-77 | SpecificDisease | denotes | aniridia |
| T2 | 120-135 | SpecificDisease | denotes | Peter's anomaly |
| T3 | 142-162 | SpecificDisease | denotes | congenital cataracts |
| T4 | 169-197 | SpecificDisease | denotes | autosomal dominant keratitis |
| T5 | 208-234 | SpecificDisease | denotes | isolated foveal hypoplasia |
| T6 | 296-304 | SpecificDisease | denotes | aniridia |
NCBI-Disease-Test-4o-GuidelineInPrompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-77 | SpecificDisease | denotes | aniridia |
| T2 | 120-135 | SpecificDisease | denotes | Peter's anomaly |
| T3 | 142-162 | SpecificDisease | denotes | congenital cataracts |
| T4 | 169-197 | DiseaseClass | denotes | autosomal dominant keratitis |
| T5 | 208-234 | SpecificDisease | denotes | isolated foveal hypoplasia |
| T6 | 296-304 | SpecificDisease | denotes | aniridia |
NCBI-Disease-Corpus-UpdatedGuideline
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 63-77 | SpecificDisease | denotes | human aniridia |
| T2 | 120-135 | SpecificDisease | denotes | Peter's anomaly |
| T3 | 142-162 | CompositeMention | denotes | congenital cataracts |
| T4 | 169-197 | DiseaseClass | denotes | autosomal dominant keratitis |
| T5 | 208-234 | SpecificDisease | denotes | isolated foveal hypoplasia |
| T6 | 296-304 | SpecificDisease | denotes | aniridia |
NCBI-Disease-Corpus-humanintheloop
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-77 | SpecificDisease | denotes | aniridia |
| T2 | 120-135 | SpecificDisease | denotes | Peter's anomaly |
| T3 | 142-162 | SpecificDisease | denotes | congenital cataracts |
| T4 | 169-197 | SpecificDisease | denotes | autosomal dominant keratitis |
| T5 | 217-234 | SpecificDisease | denotes | foveal hypoplasia |
| T6 | 296-304 | SpecificDisease | denotes | aniridia |
NCBI-Disease-Corpus-rezarta1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-77 | SpecificDisease | denotes | aniridia |
| T2 | 120-135 | SpecificDisease | denotes | Peter's anomaly |
| T3 | 142-162 | SpecificDisease | denotes | congenital cataracts |
| T4 | 169-197 | DiseaseClass | denotes | autosomal dominant keratitis |
| T5 | 217-234 | SpecificDisease | denotes | foveal hypoplasia |
| T6 | 296-304 | SpecificDisease | denotes | aniridia |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T366 | 69-77 | SpecificDisease | denotes | aniridia | D015783 |
| T367 | 120-135 | SpecificDisease | denotes | Peter's anomaly | C537884 |
| T368 | 142-162 | SpecificDisease | denotes | congenital cataracts | D002386 |
| T369 | 169-197 | SpecificDisease | denotes | autosomal dominant keratitis | C537022 |
| T370 | 208-234 | SpecificDisease | denotes | isolated foveal hypoplasia | OMIM:136520 |
| T371 | 296-304 | SpecificDisease | denotes | aniridia | D015783 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-77 | SpecificDisease | denotes | aniridia |
| T2 | 120-135 | SpecificDisease | denotes | Peter's anomaly |
| T3 | 142-162 | SpecificDisease | denotes | congenital cataracts |
| T4 | 169-197 | SpecificDisease | denotes | autosomal dominant keratitis |
| T5 | 217-234 | SpecificDisease | denotes | foveal hypoplasia |
| T6 | 296-304 | SpecificDisease | denotes | aniridia |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-77 | SpecificDisease | denotes | aniridia |
| T2 | 120-135 | SpecificDisease | denotes | Peter's anomaly |
| T3 | 142-162 | SpecificDisease | denotes | congenital cataracts |
| T4 | 169-197 | DiseaseClass | denotes | autosomal dominant keratitis |
| T5 | 208-234 | SpecificDisease | denotes | isolated foveal hypoplasia |
| T6 | 296-304 | SpecificDisease | denotes | aniridia |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-77 | SpecificDisease | denotes | aniridia |
| T2 | 120-135 | SpecificDisease | denotes | Peter's anomaly |
| T3 | 142-162 | SpecificDisease | denotes | congenital cataracts |
| T4 | 169-197 | DiseaseClass | denotes | autosomal dominant keratitis |
| T5 | 208-234 | SpecificDisease | denotes | isolated foveal hypoplasia |
| T6 | 296-304 | SpecificDisease | denotes | aniridia |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-77 | SpecificDisease | denotes | aniridia |
| T2 | 120-135 | SpecificDisease | denotes | Peter's anomaly |
| T3 | 142-162 | CompositeMention | denotes | congenital cataracts |
| T4 | 169-197 | CompositeMention | denotes | autosomal dominant keratitis |
| T5 | 208-234 | CompositeMention | denotes | isolated foveal hypoplasia |
| T6 | 296-304 | SpecificDisease | denotes | aniridia |
| T7 | 1087-1097 | Modifier | denotes | phenotypes |
12345
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-77 | SpecificDisease | denotes | aniridia |
| T2 | 120-135 | SpecificDisease | denotes | Peter's anomaly |
| T3 | 142-162 | DiseaseClass | denotes | congenital cataracts |
| T4 | 169-197 | DiseaseClass | denotes | autosomal dominant keratitis |
| T5 | 217-234 | SpecificDisease | denotes | foveal hypoplasia |
| T6 | 296-304 | SpecificDisease | denotes | aniridia |
123456
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 69-77 | SpecificDisease | denotes | aniridia |
| T2 | 120-135 | SpecificDisease | denotes | Peter's anomaly |
| T3 | 142-162 | SpecificDisease | denotes | congenital cataracts |
| T4 | 169-197 | SpecificDisease | denotes | autosomal dominant keratitis |
| T5 | 217-234 | SpecificDisease | denotes | foveal hypoplasia |
| T6 | 296-304 | SpecificDisease | denotes | aniridia |