PubMed:10662807
Annnotations
PMID_GLOBAL
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 0-18 | DiseaseOrPhenotypicFeature | denotes | Haim-Munk syndrome | 0009491 |
| T2 | 23-48 | DiseaseOrPhenotypicFeature | denotes | Papillon-Lefèvre syndrome | 0009490 |
| T3 | 99-123 | DiseaseOrPhenotypicFeature | denotes | palmoplantar keratoderma | 0006590 |
| T4 | 125-128 | DiseaseOrPhenotypicFeature | denotes | PPK | 0006590 |
| T5 | 147-172 | DiseaseOrPhenotypicFeature | denotes | Papillon-Lefèvre syndrome | 0009490 |
| T6 | 174-177 | DiseaseOrPhenotypicFeature | denotes | PLS | 0009490|0018155|0020562 |
| T9 | 183-201 | DiseaseOrPhenotypicFeature | denotes | Haim-Munk syndrome | 0009491 |
| T10 | 203-206 | DiseaseOrPhenotypicFeature | denotes | HMS | 0009491 |
| T11 | 277-280 | DiseaseOrPhenotypicFeature | denotes | PLS | 0009490|0018155|0020562 |
| T14 | 285-288 | DiseaseOrPhenotypicFeature | denotes | HMS | 0009491 |
| T15 | 320-323 | DiseaseOrPhenotypicFeature | denotes | PPK | 0006590 |
| T16 | 335-348 | DiseaseOrPhenotypicFeature | denotes | periodontitis | 0005076 |
| T17 | 398-401 | DiseaseOrPhenotypicFeature | denotes | HMS | 0009491 |
| T18 | 428-443 | DiseaseOrPhenotypicFeature | denotes | acro-osteolysis | 0007056 |
| T19 | 527-530 | DiseaseOrPhenotypicFeature | denotes | PLS | 0009490|0018155|0020562 |
| T22 | 580-583 | DiseaseOrPhenotypicFeature | denotes | HMS | 0009491 |
| T23 | 802-805 | DiseaseOrPhenotypicFeature | denotes | PLS | 0009490|0018155|0020562 |
| T26 | 969-972 | DiseaseOrPhenotypicFeature | denotes | HMS | 0009491 |
| T27 | 1065-1071 | DiseaseOrPhenotypicFeature | denotes | defect | 0008568 |
| T28 | 1075-1078 | DiseaseOrPhenotypicFeature | denotes | PLS | 0009490|0018155|0020562 |
| T31 | 1143-1146 | DiseaseOrPhenotypicFeature | denotes | HMS | 0009491 |
| T32 | 1248-1251 | DiseaseOrPhenotypicFeature | denotes | PLS | 0009490|0018155|0020562 |
| T35 | 1256-1259 | DiseaseOrPhenotypicFeature | denotes | HMS | 0009491 |
| T36 | 1460-1463 | DiseaseOrPhenotypicFeature | denotes | HMS | 0009491 |
| T37 | 1812-1815 | DiseaseOrPhenotypicFeature | denotes | HMS | 0009491 |
| T38 | 1938-1941 | DiseaseOrPhenotypicFeature | denotes | PLS | 0009490|0018155|0020562 |
| T41 | 1980-1983 | DiseaseOrPhenotypicFeature | denotes | PLS | 0009490|0018155|0020562 |
| T44 | 1988-1991 | DiseaseOrPhenotypicFeature | denotes | HMS | 0009491 |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 99-123 | HP_0000982 | denotes | palmoplantar keratoderma |
| T2 | 412-426 | HP_0001166 | denotes | arachnodactyly |
| T3 | 428-443 | HP_0009771 | denotes | acro-osteolysis |
| T4 | 433-443 | HP_0002797 | denotes | osteolysis |
| T5 | 495-519 | HP_0001167 | denotes | deformity of the fingers |
| T6 | 766-785 | HP_0000007 | denotes | autosomal recessive |
| T7 | 835-854 | HP_0000007 | denotes | autosomal recessive |
| T8 | 1776-1807 | HP_0000007 | denotes | autosomal recessive inheritance |
| T9 | 1776-1795 | HP_0000007 | denotes | autosomal recessive |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10662807-0#74#85#gene1075 | 74-85 | gene1075 | denotes | cathepsin C |
| 10662807-0#0#18#diseaseC1855627 | 0-18 | diseaseC1855627 | denotes | Haim-Munk syndrome |
| 10662807-0#23#48#diseaseC0030360 | 23-48 | diseaseC0030360 | denotes | Papillon-Lefèvre syndrome |
| 74#85#gene10750#18#diseaseC1855627 | 10662807-0#74#85#gene1075 | 10662807-0#0#18#diseaseC1855627 | associated_with | cathepsin C,Haim-Munk syndrome |
| 74#85#gene107523#48#diseaseC0030360 | 10662807-0#74#85#gene1075 | 10662807-0#23#48#diseaseC0030360 | associated_with | cathepsin C,Papillon-Lefèvre syndrome |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-18 | SpecificDisease:C537627 | denotes | Haim-Munk syndrome |
| T2 | 23-48 | SpecificDisease:D010214 | denotes | Papillon-Lefèvre syndrome |
| T3 | 99-140 | DiseaseClass:D007645 | denotes | palmoplantar keratoderma (PPK) conditions |
| T4 | 147-172 | SpecificDisease:D010214 | denotes | Papillon-Lefèvre syndrome |
| T5 | 174-177 | SpecificDisease:D010214 | denotes | PLS |
| T6 | 183-201 | SpecificDisease:C537627 | denotes | Haim-Munk syndrome |
| T7 | 203-206 | SpecificDisease:C537627 | denotes | HMS |
| T8 | 277-280 | SpecificDisease:D010214 | denotes | PLS |
| T9 | 285-288 | SpecificDisease:C537627 | denotes | HMS |
| T10 | 320-323 | DiseaseClass:D007645 | denotes | PPK |
| T11 | 335-348 | SpecificDisease:D010518 | denotes | periodontitis |
| T12 | 398-401 | SpecificDisease:C537627 | denotes | HMS |
| T13 | 412-426 | SpecificDisease:D054119 | denotes | arachnodactyly |
| T14 | 428-443 | SpecificDisease:D030981 | denotes | acro-osteolysis |
| T15 | 445-474 | SpecificDisease:D009260 | denotes | atrophic changes of the nails |
| T16 | 482-519 | SpecificDisease:D006226 | denotes | radiographic deformity of the fingers |
| T17 | 527-530 | Modifier:D010214 | denotes | PLS |
| T18 | 580-583 | SpecificDisease:C537627 | denotes | HMS |
| T19 | 802-805 | SpecificDisease:D010214 | denotes | PLS |
| T20 | 969-972 | SpecificDisease:C537627 | denotes | HMS |
| T21 | 1057-1071 | DiseaseClass:D030342 | denotes | genetic defect |
| T22 | 1075-1078 | SpecificDisease:D010214 | denotes | PLS |
| T23 | 1143-1146 | SpecificDisease:C537627 | denotes | HMS |
| T24 | 1248-1251 | Modifier:D010214 | denotes | PLS |
| T25 | 1256-1259 | Modifier:C537627 | denotes | HMS |
| T26 | 1460-1463 | SpecificDisease:C537627 | denotes | HMS |
| T27 | 1812-1815 | SpecificDisease:C537627 | denotes | HMS |
| T28 | 1938-1941 | SpecificDisease:D010214 | denotes | PLS |
| T29 | 1980-1983 | SpecificDisease:D010214 | denotes | PLS |
| T30 | 1988-1991 | SpecificDisease:C537627 | denotes | HMS |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 1880-1884 | gene:1075 | denotes | CTSC |
| T1 | 1938-1941 | disease:C0030360 | denotes | PLS |
| R1 | T0 | T1 | associated_with | CTSC,PLS |
NCBI-Disease-Train
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T3151 | 0-18 | SpecificDisease | denotes | Haim-Munk syndrome | C537627 |
| T3152 | 23-48 | SpecificDisease | denotes | Papillon-Lefèvre syndrome | D010214 |
| T3153 | 99-140 | DiseaseClass | denotes | palmoplantar keratoderma (PPK) conditions | D007645 |
| T3154 | 147-172 | SpecificDisease | denotes | Papillon-Lefèvre syndrome | D010214 |
| T3155 | 174-177 | SpecificDisease | denotes | PLS | D010214 |
| T3156 | 183-201 | SpecificDisease | denotes | Haim-Munk syndrome | C537627 |
| T3157 | 203-206 | SpecificDisease | denotes | HMS | C537627 |
| T3158 | 277-280 | SpecificDisease | denotes | PLS | D010214 |
| T3159 | 285-288 | SpecificDisease | denotes | HMS | C537627 |
| T3160 | 320-323 | DiseaseClass | denotes | PPK | D007645 |
| T3161 | 335-348 | SpecificDisease | denotes | periodontitis | D010518 |
| T3162 | 398-401 | SpecificDisease | denotes | HMS | C537627 |
| T3163 | 412-426 | SpecificDisease | denotes | arachnodactyly | D054119 |
| T3164 | 428-443 | SpecificDisease | denotes | acro-osteolysis | D030981 |
| T3165 | 445-474 | SpecificDisease | denotes | atrophic changes of the nails | D009260 |
| T3166 | 482-519 | SpecificDisease | denotes | radiographic deformity of the fingers | D006226 |
| T3167 | 527-530 | Modifier | denotes | PLS | D010214 |
| T3168 | 580-583 | SpecificDisease | denotes | HMS | C537627 |
| T3169 | 802-805 | SpecificDisease | denotes | PLS | D010214 |
| T3170 | 969-972 | SpecificDisease | denotes | HMS | C537627 |
| T3171 | 1057-1071 | DiseaseClass | denotes | genetic defect | D030342 |
| T3172 | 1075-1078 | SpecificDisease | denotes | PLS | D010214 |
| T3173 | 1143-1146 | SpecificDisease | denotes | HMS | C537627 |
| T3174 | 1248-1251 | Modifier | denotes | PLS | D010214 |
| T3175 | 1256-1259 | Modifier | denotes | HMS | C537627 |
| T3176 | 1460-1463 | SpecificDisease | denotes | HMS | C537627 |
| T3177 | 1812-1815 | SpecificDisease | denotes | HMS | C537627 |
| T3178 | 1938-1941 | SpecificDisease | denotes | PLS | D010214 |
| T3179 | 1980-1983 | SpecificDisease | denotes | PLS | D010214 |
| T3180 | 1988-1991 | SpecificDisease | denotes | HMS | C537627 |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T3151 | 0-18 | SpecificDisease | denotes | Haim-Munk syndrome | C537627 |
| T3152 | 23-48 | SpecificDisease | denotes | Papillon-Lefèvre syndrome | D010214 |
| T3153 | 99-140 | DiseaseClass | denotes | palmoplantar keratoderma (PPK) conditions | D007645 |
| T3154 | 147-172 | SpecificDisease | denotes | Papillon-Lefèvre syndrome | D010214 |
| T3155 | 174-177 | SpecificDisease | denotes | PLS | D010214 |
| T3156 | 183-201 | SpecificDisease | denotes | Haim-Munk syndrome | C537627 |
| T3157 | 203-206 | SpecificDisease | denotes | HMS | C537627 |
| T3158 | 277-280 | SpecificDisease | denotes | PLS | D010214 |
| T3159 | 285-288 | SpecificDisease | denotes | HMS | C537627 |
| T3160 | 320-323 | DiseaseClass | denotes | PPK | D007645 |
| T3161 | 335-348 | SpecificDisease | denotes | periodontitis | D010518 |
| T3162 | 398-401 | SpecificDisease | denotes | HMS | C537627 |
| T3163 | 412-426 | SpecificDisease | denotes | arachnodactyly | D054119 |
| T3164 | 428-443 | SpecificDisease | denotes | acro-osteolysis | D030981 |
| T3165 | 445-474 | SpecificDisease | denotes | atrophic changes of the nails | D009260 |
| T3166 | 482-519 | SpecificDisease | denotes | radiographic deformity of the fingers | D006226 |
| T3167 | 527-530 | Modifier | denotes | PLS | D010214 |
| T3168 | 580-583 | SpecificDisease | denotes | HMS | C537627 |
| T3169 | 802-805 | SpecificDisease | denotes | PLS | D010214 |
| T3170 | 969-972 | SpecificDisease | denotes | HMS | C537627 |
| T3171 | 1057-1071 | DiseaseClass | denotes | genetic defect | D030342 |
| T3172 | 1075-1078 | SpecificDisease | denotes | PLS | D010214 |
| T3173 | 1143-1146 | SpecificDisease | denotes | HMS | C537627 |
| T3174 | 1248-1251 | Modifier | denotes | PLS | D010214 |
| T3175 | 1256-1259 | Modifier | denotes | HMS | C537627 |
| T3176 | 1460-1463 | SpecificDisease | denotes | HMS | C537627 |
| T3177 | 1812-1815 | SpecificDisease | denotes | HMS | C537627 |
| T3178 | 1938-1941 | SpecificDisease | denotes | PLS | D010214 |
| T3179 | 1980-1983 | SpecificDisease | denotes | PLS | D010214 |
| T3180 | 1988-1991 | SpecificDisease | denotes | HMS | C537627 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 23-48 | SpecificDisease | denotes | Papillon-Lefèvre syndrome |
| T2 | 147-172 | SpecificDisease | denotes | Papillon-Lefèvre syndrome |
| T3 | 183-201 | SpecificDisease | denotes | Haim-Munk syndrome |
| T4 | 277-280 | SpecificDisease | denotes | PLS |
| T5 | 285-288 | SpecificDisease | denotes | HMS |
| T6 | 320-323 | DiseaseClass | denotes | PPK |
| T7 | 335-348 | SpecificDisease | denotes | periodontitis |
| T8 | 398-401 | SpecificDisease | denotes | HMS |
| T9 | 527-530 | SpecificDisease | denotes | PLS |
| T10 | 580-583 | SpecificDisease | denotes | HMS |
| T11 | 802-805 | SpecificDisease | denotes | PLS |
| T12 | 969-972 | SpecificDisease | denotes | HMS |
| T13 | 1075-1078 | SpecificDisease | denotes | PLS |
| T14 | 1143-1146 | SpecificDisease | denotes | HMS |
| T15 | 1248-1251 | SpecificDisease | denotes | PLS |
| T16 | 1256-1259 | SpecificDisease | denotes | HMS |
| T17 | 1460-1463 | SpecificDisease | denotes | HMS |
| T18 | 1812-1815 | SpecificDisease | denotes | HMS |
| T19 | 1938-1941 | SpecificDisease | denotes | PLS |
| T20 | 1980-1983 | SpecificDisease | denotes | PLS |
| T21 | 1988-1991 | SpecificDisease | denotes | HMS |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-18 | SpecificDisease | denotes | Haim-Munk syndrome |
| T2 | 23-48 | SpecificDisease | denotes | Papillon-Lefèvre syndrome |
| T3 | 99-123 | DiseaseClass | denotes | palmoplantar keratoderma |
| T4 | 147-172 | SpecificDisease | denotes | Papillon-Lefèvre syndrome |
| T5 | 183-201 | SpecificDisease | denotes | Haim-Munk syndrome |
| T7 | 285-288 | SpecificDisease | denotes | HMS |
| T8 | 320-323 | DiseaseClass | denotes | PPK |
| T9 | 328-348 | SpecificDisease | denotes | severe periodontitis |
| T10 | 398-401 | SpecificDisease | denotes | HMS |
| T11 | 527-530 | SpecificDisease | denotes | PLS |
| T12 | 580-583 | SpecificDisease | denotes | HMS |
| T13 | 802-805 | SpecificDisease | denotes | PLS |
| T14 | 969-972 | SpecificDisease | denotes | HMS |
| T15 | 1075-1078 | SpecificDisease | denotes | PLS |
| T16 | 1143-1146 | SpecificDisease | denotes | HMS |
| T18 | 1256-1259 | SpecificDisease | denotes | HMS |
| T19 | 1460-1463 | SpecificDisease | denotes | HMS |
| T20 | 1812-1815 | SpecificDisease | denotes | HMS |
| T21 | 1938-1941 | SpecificDisease | denotes | PLS |
| T23 | 1988-1991 | SpecificDisease | denotes | HMS |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-18 | SpecificDisease | denotes | Haim-Munk syndrome |
| T2 | 23-48 | SpecificDisease | denotes | Papillon-Lefèvre syndrome |
| T3 | 147-172 | SpecificDisease | denotes | Papillon-Lefèvre syndrome |
| T4 | 183-201 | SpecificDisease | denotes | Haim-Munk syndrome |
| T5 | 277-280 | SpecificDisease | denotes | PLS |
| T6 | 285-288 | SpecificDisease | denotes | HMS |
| T7 | 328-348 | DiseaseClass | denotes | severe periodontitis |
| T8 | 398-401 | SpecificDisease | denotes | HMS |
| T9 | 527-530 | SpecificDisease | denotes | PLS |
| T10 | 580-583 | SpecificDisease | denotes | HMS |
| T11 | 766-785 | Modifier | denotes | autosomal recessive |
| T12 | 802-805 | SpecificDisease | denotes | PLS |
| T13 | 835-854 | Modifier | denotes | autosomal recessive |
| T14 | 969-972 | SpecificDisease | denotes | HMS |
| T15 | 1075-1078 | SpecificDisease | denotes | PLS |
| T16 | 1143-1146 | SpecificDisease | denotes | HMS |
| T17 | 1248-1251 | SpecificDisease | denotes | PLS |
| T18 | 1256-1259 | SpecificDisease | denotes | HMS |
| T19 | 1460-1463 | SpecificDisease | denotes | HMS |
| T20 | 1776-1795 | Modifier | denotes | autosomal recessive |
| T21 | 1812-1815 | SpecificDisease | denotes | HMS |
| T22 | 1928-1937 | Modifier | denotes | classical |
| T23 | 1938-1941 | SpecificDisease | denotes | PLS |
| T24 | 1980-1983 | SpecificDisease | denotes | PLS |
| T25 | 1988-1991 | SpecificDisease | denotes | HMS |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-18 | SpecificDisease | denotes | Haim-Munk syndrome |
| T2 | 23-48 | SpecificDisease | denotes | Papillon-Lefèvre syndrome |
| T3 | 99-140 | DiseaseClass | denotes | palmoplantar keratoderma (PPK) conditions |
| T4 | 147-178 | SpecificDisease | denotes | Papillon-Lefèvre syndrome (PLS) |
| T5 | 183-207 | SpecificDisease | denotes | Haim-Munk syndrome (HMS) |
| T6 | 238-261 | SpecificDisease | denotes | periodontal destruction |
| T7 | 277-280 | SpecificDisease | denotes | PLS |
| T8 | 285-288 | SpecificDisease | denotes | HMS |
| T9 | 320-323 | DiseaseClass | denotes | PPK |
| T10 | 328-348 | SpecificDisease | denotes | severe periodontitis |
| T11 | 398-401 | SpecificDisease | denotes | HMS |
| T12 | 412-426 | Modifier | denotes | arachnodactyly |
| T13 | 428-443 | Modifier | denotes | acro-osteolysis |
| T14 | 445-474 | Modifier | denotes | atrophic changes of the nails |
| T15 | 527-530 | SpecificDisease | denotes | PLS |
| T16 | 580-583 | SpecificDisease | denotes | HMS |
| T17 | 766-798 | Modifier | denotes | autosomal recessive transmission |
| T18 | 802-805 | SpecificDisease | denotes | PLS |
| T19 | 969-972 | SpecificDisease | denotes | HMS |
| T20 | 1075-1078 | SpecificDisease | denotes | PLS |
| T21 | 1143-1146 | SpecificDisease | denotes | HMS |
| T22 | 1248-1251 | SpecificDisease | denotes | PLS |
| T23 | 1256-1259 | SpecificDisease | denotes | HMS |
| T24 | 1460-1463 | SpecificDisease | denotes | HMS |
| T25 | 1776-1807 | Modifier | denotes | autosomal recessive inheritance |
| T26 | 1812-1815 | SpecificDisease | denotes | HMS |
| T27 | 1938-1941 | SpecificDisease | denotes | PLS |
| T28 | 1980-1991 | CompositeMention | denotes | PLS and HMS |