PubMed:9931324
Annnotations
NCBI-Disease-Corpus-GPT5-withguidelines
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 103-131 | DiseaseClass | denotes | congenital eye malformations |
| T2 | 175-183 | SpecificDisease | denotes | aniridia |
| T3 | 185-215 | SpecificDisease | denotes | congenital absence of the iris |
| T4 | 234-257 | DiseaseClass | denotes | malformation of the eye |
| T5 | 293-301 | Modifier | denotes | aniridia |
| T6 | 742-750 | Modifier | denotes | aniridia |
| T7 | 978-986 | SpecificDisease | denotes | aniridia |
| T8 | 1085-1101 | SpecificDisease | denotes | ectopia pupillae |
| T9 | 1125-1145 | SpecificDisease | denotes | congenital nystagmus |
| T10 | 1210-1218 | Modifier | denotes | aniridia |
NCBI-Disease-Corpus-GPT5-noguidelines
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 103-113 | Modifier | denotes | congenital |
| T2 | 175-183 | SpecificDisease | denotes | aniridia |
| T3 | 185-195 | Modifier | denotes | congenital |
| T4 | 220-224 | Modifier | denotes | rare |
| T5 | 225-233 | Modifier | denotes | dominant |
| T6 | 234-257 | DiseaseClass | denotes | malformation of the eye |
| T7 | 293-301 | SpecificDisease | denotes | aniridia |
| T8 | 742-750 | SpecificDisease | denotes | aniridia |
| T9 | 969-977 | Modifier | denotes | textbook |
| T10 | 978-986 | SpecificDisease | denotes | aniridia |
| T11 | 1064-1072 | Modifier | denotes | atypical |
| T12 | 1085-1101 | SpecificDisease | denotes | ectopia pupillae |
| T13 | 1103-1119 | SpecificDisease | denotes | displaced pupils |
| T14 | 1125-1135 | Modifier | denotes | congenital |
| T15 | 1147-1161 | SpecificDisease | denotes | searching gaze |
| T16 | 1197-1209 | Modifier | denotes | recognizable |
| T17 | 1210-1218 | SpecificDisease | denotes | aniridia |
| T18 | 1551-1572 | DiseaseClass | denotes | PAX6 -related disease |
NCBI-Disease-Corpus-GPT5-guidelineprompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 103-131 | DiseaseClass | denotes | congenital eye malformations |
| T2 | 175-183 | SpecificDisease | denotes | aniridia |
| T3 | 185-215 | SpecificDisease | denotes | congenital absence of the iris |
| T4 | 293-301 | Modifier | denotes | aniridia |
| T5 | 742-750 | Modifier | denotes | aniridia |
| T6 | 978-986 | SpecificDisease | denotes | aniridia |
| T7 | 1085-1101 | SpecificDisease | denotes | ectopia pupillae |
| T8 | 1125-1145 | SpecificDisease | denotes | congenital nystagmus |
| T9 | 1210-1218 | Modifier | denotes | aniridia |
NCBI-Disease-Corpus-Moderated1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 103-131 | DiseaseClass | denotes | congenital eye malformations |
| T2 | 175-183 | SpecificDisease | denotes | aniridia |
| T3 | 185-215 | SpecificDisease | denotes | congenital absence of the iris |
| T4 | 225-257 | DiseaseClass | denotes | dominant malformation of the eye |
| T5 | 293-301 | Modifier | denotes | aniridia |
| T6 | 742-750 | Modifier | denotes | aniridia |
| T7 | 978-986 | SpecificDisease | denotes | aniridia |
| T8 | 1085-1101 | SpecificDisease | denotes | ectopia pupillae |
| T9 | 1125-1145 | SpecificDisease | denotes | congenital nystagmus |
| T10 | 1210-1218 | Modifier | denotes | aniridia |
| T11 | 1551-1572 | DiseaseClass | denotes | PAX6 -related disease |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 850-854 | gene:5080 | denotes | PAX6 |
| T1 | 978-986 | disease:C0003076 | denotes | aniridia |
| T2 | 896-900 | gene:5080 | denotes | PAX6 |
| T3 | 978-986 | disease:C0003076 | denotes | aniridia |
| R1 | T0 | T1 | associated_with | PAX6,aniridia |
| R2 | T2 | T3 | associated_with | PAX6,aniridia |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 9931324-0#55#59#gene5080 | 55-59 | gene5080 | denotes | PAX6 |
| 9931324-0#114#131#diseaseC0015393 | 114-131 | diseaseC0015393 | denotes | eye malformations |
| 9931324-5#27#31#gene5080 | 1015-1019 | gene5080 | denotes | PAX6 |
| 9931324-5#97#113#diseaseC1271219 | 1085-1101 | diseaseC1271219 | denotes | ectopia pupillae |
| 9931324-5#137#157#diseaseC0700501 | 1125-1145 | diseaseC0700501 | denotes | congenital nystagmus |
| 9931324-5#222#230#diseaseC0003076 | 1210-1218 | diseaseC0003076 | denotes | aniridia |
| 55#59#gene5080114#131#diseaseC0015393 | 9931324-0#55#59#gene5080 | 9931324-0#114#131#diseaseC0015393 | associated_with | PAX6,eye malformations |
| 27#31#gene508097#113#diseaseC1271219 | 9931324-5#27#31#gene5080 | 9931324-5#97#113#diseaseC1271219 | associated_with | PAX6,ectopia pupillae |
| 27#31#gene5080137#157#diseaseC0700501 | 9931324-5#27#31#gene5080 | 9931324-5#137#157#diseaseC0700501 | associated_with | PAX6,congenital nystagmus |
| 27#31#gene5080222#230#diseaseC0003076 | 9931324-5#27#31#gene5080 | 9931324-5#222#230#diseaseC0003076 | associated_with | PAX6,aniridia |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 175-183 | HP:0000526 | denotes | aniridia |
| AB2 | 293-301 | HP:0000526 | denotes | aniridia |
| AB3 | 742-750 | HP:0000526 | denotes | aniridia |
| AB4 | 978-986 | HP:0000526 | denotes | aniridia |
| AB5 | 1085-1101 | HP:0009918 | denotes | ectopia pupillae |
| AB6 | 1125-1145 | HP:0006934 | denotes | congenital nystagmus |
| AB7 | 1210-1218 | HP:0000526 | denotes | aniridia |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 103-131 | DiseaseClass:D005124 | denotes | congenital eye malformations |
| T2 | 175-183 | SpecificDisease:D015783 | denotes | aniridia |
| T3 | 185-215 | SpecificDisease:D015783 | denotes | congenital absence of the iris |
| T4 | 234-257 | DiseaseClass:D005124 | denotes | malformation of the eye |
| T5 | 293-301 | Modifier:D015783 | denotes | aniridia |
| T6 | 742-750 | Modifier:D015783 | denotes | aniridia |
| T7 | 978-986 | SpecificDisease:D015783 | denotes | aniridia |
| T8 | 1085-1101 | SpecificDisease:C536185 | denotes | ectopia pupillae |
| T9 | 1103-1119 | SpecificDisease:C536185 | denotes | displaced pupils |
| T10 | 1125-1145 | SpecificDisease:D020417 | denotes | congenital nystagmus |
| T11 | 1147-1161 | SpecificDisease:D020417 | denotes | searching gaze |
| T12 | 1210-1218 | Modifier:D015783 | denotes | aniridia |
| T13 | 1551-1572 | DiseaseClass:OMIM:106210 | denotes | PAX6 -related disease |
NCBI-Disease-Test
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T104 | 103-131 | DiseaseClass | denotes | congenital eye malformations | D005124 |
| T105 | 175-183 | SpecificDisease | denotes | aniridia | D015783 |
| T106 | 185-215 | SpecificDisease | denotes | congenital absence of the iris | D015783 |
| T107 | 234-257 | DiseaseClass | denotes | malformation of the eye | D005124 |
| T108 | 293-301 | Modifier | denotes | aniridia | D015783 |
| T109 | 742-750 | Modifier | denotes | aniridia | D015783 |
| T110 | 978-986 | SpecificDisease | denotes | aniridia | D015783 |
| T111 | 1085-1101 | SpecificDisease | denotes | ectopia pupillae | C536185 |
| T112 | 1103-1119 | SpecificDisease | denotes | displaced pupils | C536185 |
| T113 | 1125-1145 | SpecificDisease | denotes | congenital nystagmus | D020417 |
| T114 | 1147-1161 | SpecificDisease | denotes | searching gaze | D020417 |
| T115 | 1210-1218 | Modifier | denotes | aniridia | D015783 |
| T116 | 1551-1572 | DiseaseClass | denotes | PAX6 -related disease | OMIM:106210 |
NCBI-Disease-Test-Assistant-Knowledge
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 114-131 | DiseaseClass | denotes | eye malformations |
| T2 | 175-183 | SpecificDisease | denotes | aniridia |
| T3 | 293-301 | SpecificDisease | denotes | aniridia |
| T4 | 742-750 | SpecificDisease | denotes | aniridia |
| T5 | 978-986 | SpecificDisease | denotes | aniridia |
| T6 | 1085-1101 | SpecificDisease | denotes | ectopia pupillae |
| T7 | 1125-1145 | SpecificDisease | denotes | congenital nystagmus |
| T8 | 1210-1218 | SpecificDisease | denotes | aniridia |
| T9 | 1565-1572 | DiseaseClass | denotes | disease |
NCBI-Disease-Test-4o-NoGuidelineInPrompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 103-131 | DiseaseClass | denotes | congenital eye malformations |
| T2 | 175-183 | SpecificDisease | denotes | aniridia |
| T3 | 293-301 | SpecificDisease | denotes | aniridia |
| T4 | 742-750 | SpecificDisease | denotes | aniridia |
| T5 | 978-986 | SpecificDisease | denotes | aniridia |
| T6 | 1085-1101 | SpecificDisease | denotes | ectopia pupillae |
| T7 | 1125-1145 | SpecificDisease | denotes | congenital nystagmus |
| T8 | 1210-1218 | SpecificDisease | denotes | aniridia |
| T9 | 1551-1572 | CompositeMention | denotes | PAX6 -related disease |
NCBI-Disease-Corpus-o3-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 103-131 | SpecificDisease | denotes | congenital eye malformations |
| T2 | 175-216 | SpecificDisease | denotes | aniridia (congenital absence of the iris) |
| T3 | 293-301 | SpecificDisease | denotes | aniridia |
| T4 | 742-750 | SpecificDisease | denotes | aniridia |
| T5 | 978-986 | SpecificDisease | denotes | aniridia |
| T6 | 1085-1120 | SpecificDisease | denotes | ectopia pupillae (displaced pupils) |
| T7 | 1125-1162 | SpecificDisease | denotes | congenital nystagmus (searching gaze) |
| T8 | 1210-1218 | Modifier | denotes | aniridia |
| T9 | 1551-1572 | SpecificDisease | denotes | PAX6 -related disease |
NCBI-Disease-Corpus-high-o3-1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 103-131 | DiseaseClass | denotes | congenital eye malformations |
| T2 | 175-183 | SpecificDisease | denotes | aniridia |
| T3 | 185-215 | SpecificDisease | denotes | congenital absence of the iris |
| T4 | 293-301 | SpecificDisease | denotes | aniridia |
| T5 | 742-750 | SpecificDisease | denotes | aniridia |
| T6 | 978-986 | SpecificDisease | denotes | aniridia |
| T7 | 1085-1101 | SpecificDisease | denotes | ectopia pupillae |
| T8 | 1103-1119 | SpecificDisease | denotes | displaced pupils |
| T9 | 1125-1145 | SpecificDisease | denotes | congenital nystagmus |
| T10 | 1147-1161 | SpecificDisease | denotes | searching gaze |
| T11 | 1210-1218 | SpecificDisease | denotes | aniridia |
| T12 | 1551-1572 | DiseaseClass | denotes | PAX6 -related disease |
NCBI-Disease-Corpus-high-o3-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 103-131 | DiseaseClass | denotes | congenital eye malformations |
| T2 | 175-183 | SpecificDisease | denotes | aniridia |
| T3 | 185-215 | SpecificDisease | denotes | congenital absence of the iris |
| T4 | 293-301 | SpecificDisease | denotes | aniridia |
| T5 | 742-750 | SpecificDisease | denotes | aniridia |
| T6 | 978-986 | SpecificDisease | denotes | aniridia |
| T7 | 1085-1101 | SpecificDisease | denotes | ectopia pupillae |
| T8 | 1103-1119 | SpecificDisease | denotes | displaced pupils |
| T9 | 1125-1145 | SpecificDisease | denotes | congenital nystagmus |
| T10 | 1147-1161 | SpecificDisease | denotes | searching gaze |
| T11 | 1210-1218 | SpecificDisease | denotes | aniridia |
NCBI-Disease-Test-4o-GuidelineInPrompt
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 175-183 | SpecificDisease | denotes | aniridia |
| T2 | 293-301 | SpecificDisease | denotes | aniridia |
| T3 | 742-750 | SpecificDisease | denotes | aniridia |
| T4 | 978-986 | SpecificDisease | denotes | aniridia |
| T5 | 1085-1101 | SpecificDisease | denotes | ectopia pupillae |
| T6 | 1125-1145 | SpecificDisease | denotes | congenital nystagmus |
| T7 | 1210-1218 | SpecificDisease | denotes | aniridia |
NCBI-Disease-Corpus-UpdatedGuideline
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 175-183 | SpecificDisease | denotes | aniridia |
| T2 | 293-301 | SpecificDisease | denotes | aniridia |
| T3 | 742-750 | SpecificDisease | denotes | aniridia |
| T4 | 978-986 | SpecificDisease | denotes | aniridia |
| T5 | 1085-1101 | SpecificDisease | denotes | ectopia pupillae |
| T6 | 1125-1145 | SpecificDisease | denotes | congenital nystagmus |
| T7 | 1210-1218 | SpecificDisease | denotes | aniridia |
NCBI-Disease-Corpus-humanintheloop
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 175-183 | SpecificDisease | denotes | aniridia |
| T2 | 293-301 | SpecificDisease | denotes | aniridia |
| T3 | 742-750 | SpecificDisease | denotes | aniridia |
| T4 | 978-986 | SpecificDisease | denotes | aniridia |
| T5 | 1085-1101 | SpecificDisease | denotes | ectopia pupillae |
| T6 | 1125-1145 | SpecificDisease | denotes | congenital nystagmus |
| T7 | 1210-1218 | SpecificDisease | denotes | aniridia |
NCBI-Disease-Corpus-rezarta1
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 175-183 | SpecificDisease | denotes | aniridia |
| T2 | 293-301 | SpecificDisease | denotes | aniridia |
| T3 | 742-750 | SpecificDisease | denotes | aniridia |
| T4 | 978-986 | SpecificDisease | denotes | aniridia |
| T5 | 1085-1101 | SpecificDisease | denotes | ectopia pupillae |
| T6 | 1125-1145 | SpecificDisease | denotes | congenital nystagmus |
| T7 | 1210-1218 | SpecificDisease | denotes | aniridia |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T104 | 103-131 | DiseaseClass | denotes | congenital eye malformations | D005124 |
| T105 | 175-183 | SpecificDisease | denotes | aniridia | D015783 |
| T106 | 185-215 | SpecificDisease | denotes | congenital absence of the iris | D015783 |
| T107 | 234-257 | DiseaseClass | denotes | malformation of the eye | D005124 |
| T108 | 293-301 | Modifier | denotes | aniridia | D015783 |
| T109 | 742-750 | Modifier | denotes | aniridia | D015783 |
| T110 | 978-986 | SpecificDisease | denotes | aniridia | D015783 |
| T111 | 1085-1101 | SpecificDisease | denotes | ectopia pupillae | C536185 |
| T112 | 1103-1119 | SpecificDisease | denotes | displaced pupils | C536185 |
| T113 | 1125-1145 | SpecificDisease | denotes | congenital nystagmus | D020417 |
| T114 | 1147-1161 | SpecificDisease | denotes | searching gaze | D020417 |
| T115 | 1210-1218 | Modifier | denotes | aniridia | D015783 |
| T116 | 1551-1572 | DiseaseClass | denotes | PAX6 -related disease | OMIM:106210 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 175-183 | SpecificDisease | denotes | aniridia |
| T2 | 293-301 | SpecificDisease | denotes | aniridia |
| T3 | 742-750 | SpecificDisease | denotes | aniridia |
| T4 | 978-986 | SpecificDisease | denotes | aniridia |
| T5 | 1085-1101 | SpecificDisease | denotes | ectopia pupillae |
| T6 | 1125-1145 | SpecificDisease | denotes | congenital nystagmus |
| T7 | 1210-1218 | SpecificDisease | denotes | aniridia |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 175-183 | SpecificDisease | denotes | aniridia |
| T2 | 293-301 | SpecificDisease | denotes | aniridia |
| T3 | 742-750 | SpecificDisease | denotes | aniridia |
| T4 | 978-986 | SpecificDisease | denotes | aniridia |
| T5 | 1085-1101 | SpecificDisease | denotes | ectopia pupillae |
| T6 | 1125-1145 | SpecificDisease | denotes | congenital nystagmus |
| T7 | 1210-1218 | SpecificDisease | denotes | aniridia |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 97-131 | Modifier | denotes | human congenital eye malformations |
| T2 | 150-165 | Modifier | denotes | human PAX6 gene |
| T3 | 175-183 | SpecificDisease | denotes | aniridia |
| T4 | 293-310 | Modifier | denotes | aniridia patients |
| T5 | 742-759 | Modifier | denotes | aniridia patients |
| T6 | 850-872 | Modifier | denotes | PAX6 mutation analysis |
| T7 | 978-986 | SpecificDisease | denotes | aniridia |
| T8 | 1085-1101 | SpecificDisease | denotes | ectopia pupillae |
| T9 | 1125-1145 | SpecificDisease | denotes | congenital nystagmus |
| T10 | 1210-1218 | SpecificDisease | denotes | aniridia |
| T11 | 1551-1572 | Modifier | denotes | PAX6 -related disease |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 175-183 | SpecificDisease | denotes | aniridia |
| T2 | 293-301 | SpecificDisease | denotes | aniridia |
| T3 | 742-750 | SpecificDisease | denotes | aniridia |
| T4 | 978-986 | SpecificDisease | denotes | aniridia |
| T5 | 1085-1101 | SpecificDisease | denotes | ectopia pupillae |
| T6 | 1125-1145 | SpecificDisease | denotes | congenital nystagmus |
| T7 | 1210-1218 | SpecificDisease | denotes | aniridia |
| T8 | 1565-1572 | DiseaseClass | denotes | disease |
123456
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 175-183 | SpecificDisease | denotes | aniridia |
| T2 | 293-301 | SpecificDisease | denotes | aniridia |
| T3 | 742-750 | SpecificDisease | denotes | aniridia |
| T4 | 978-986 | SpecificDisease | denotes | aniridia |
| T5 | 1085-1101 | SpecificDisease | denotes | ectopia pupillae |
| T6 | 1125-1145 | SpecificDisease | denotes | congenital nystagmus |
| T7 | 1210-1218 | SpecificDisease | denotes | aniridia |
12345
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 97-131 | DiseaseClass | denotes | human congenital eye malformations |
| T2 | 175-183 | SpecificDisease | denotes | aniridia |
| T3 | 293-301 | SpecificDisease | denotes | aniridia |
| T4 | 742-750 | SpecificDisease | denotes | aniridia |
| T5 | 978-986 | SpecificDisease | denotes | aniridia |
| T6 | 1085-1101 | SpecificDisease | denotes | ectopia pupillae |
| T7 | 1125-1145 | SpecificDisease | denotes | congenital nystagmus |
| T8 | 1210-1218 | SpecificDisease | denotes | aniridia |
| T9 | 1565-1572 | DiseaseClass | denotes | disease |