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DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10323252-0#19#25#gene2010 19-25 gene2010 denotes emerin
10323252-0#79#121#diseaseC0751337 79-121 diseaseC0751337 denotes X-linked Emery-Dreifuss muscular dystrophy
10323252-3#23#29#gene2010 629-635 gene2010 denotes emerin
10323252-3#73#77#diseaseC0410189 679-683 diseaseC0410189 denotes EDMD
19#25#gene201079#121#diseaseC0751337 10323252-0#19#25#gene2010 10323252-0#79#121#diseaseC0751337 associated_with emerin,X-linked Emery-Dreifuss muscular dystrophy
23#29#gene201073#77#diseaseC0410189 10323252-3#23#29#gene2010 10323252-3#73#77#diseaseC0410189 associated_with emerin,EDMD

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 138-156 HP:0003560 denotes muscular dystrophy
AB2 189-207 HP:0003560 denotes muscular dystrophy
TI1 103-121 HP:0003560 denotes muscular dystrophy
AB3 339-353 HP:0001638 denotes cardiomyopathy
AB4 1309-1327 HP:0006466 denotes ankle contractures

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1335-1339 http://purl.obolibrary.org/obo/UBERON_0002101 denotes limb
PD-UBERON-AE-B_T2 1359-1363 http://purl.obolibrary.org/obo/UBERON_0002101 denotes limb
PD-UBERON-AE-B_T3 1142-1148 http://purl.obolibrary.org/obo/UBERON_0000957 denotes lamina
PD-UBERON-AE-B_T4 558-565 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissues
PD-UBERON-AE-B_T5 251-257 http://purl.obolibrary.org/obo/UBERON_0001461 denotes elbows
PD-UBERON-AE-B_T6 1289-1294 http://purl.obolibrary.org/obo/UBERON_0001461 denotes elbow
PD-UBERON-AE-B_T7 268-275 http://purl.obolibrary.org/obo/UBERON_0000043 denotes tendons

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 123-156 ORDO:261 denotes Emery-Dreifuss muscular dystrophy
AB2 158-162 ORDO:261 denotes EDMD
AB3 679-683 ORDO:261 denotes EDMD
AB4 793-797 ORDO:261 denotes EDMD
AB5 1190-1194 ORDO:261 denotes EDMD
AB6 1564-1568 ORDO:261 denotes EDMD

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 251-257 http://purl.obolibrary.org/obo/UBERON_0001461 denotes elbows
PD-UBERON-AE-B_T2 1289-1294 http://purl.obolibrary.org/obo/UBERON_0001461 denotes elbow
PD-UBERON-AE-B_T3 268-275 http://purl.obolibrary.org/obo/UBERON_0000043 denotes tendons
PD-UBERON-AE-B_T4 558-565 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissues
PD-UBERON-AE-B_T5 1142-1148 http://purl.obolibrary.org/obo/UBERON_0000957 denotes lamina
PD-UBERON-AE-B_T6 1335-1339 http://purl.obolibrary.org/obo/UBERON_0002101 denotes limb
PD-UBERON-AE-B_T7 1359-1363 http://purl.obolibrary.org/obo/UBERON_0002101 denotes limb

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-122 Sentence denotes Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.
TextSentencer_T2 123-397 Sentence denotes Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive muscular dystrophy characterized by early contractures of the elbows, Achilles tendons and spine, slowly progressive muscle wasting and weakness, and cardiomyopathy associated with cardiac conduction defects.
TextSentencer_T3 398-605 Sentence denotes The emerin gene has been mapped to Xq28 and encodes a 34-kDa serine-rich protein, emerin, which has been localized to the nuclear envelope in a wide variety of tissues, including skeletal and cardiac muscle.
TextSentencer_T4 606-684 Sentence denotes Mutations spanning the emerin gene have been identified in patients with EDMD.
TextSentencer_T5 685-807 Sentence denotes We present here the effect, on emerin protein expression, of two missense mutations identified in unrelated EDMD patients.
TextSentencer_T6 808-926 Sentence denotes These alterations predict the replacement of a proline residue at position 183 with either a histidine or a threonine.
TextSentencer_T7 927-1160 Sentence denotes Biochemical analysis has demonstrated that the mobility and expression levels of the mutant forms of emerin are indistinguishable from that of wild-type emerin, but that they have weakened interactions with nuclear lamina components.
TextSentencer_T8 1161-1445 Sentence denotes In comparison with the usual EDMD phenotype, patients with P183 missense mutations have a later age at onset of first symptoms, elbow contractures, ankle contractures, upper limb weakness and lower limb weakness, but there is no difference for the age at onset of cardiac involvement.
TextSentencer_T9 1446-1569 Sentence denotes This is the first report of protein studies on patients with missense mutations resulting in the clinical features of EDMD.
TextSentencer_T10 1570-1670 Sentence denotes These studies demonstrate the importance of proline 183 for the proper structure/function of emerin.
T1 0-122 Sentence denotes Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.
T2 123-397 Sentence denotes Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive muscular dystrophy characterized by early contractures of the elbows, Achilles tendons and spine, slowly progressive muscle wasting and weakness, and cardiomyopathy associated with cardiac conduction defects.
T3 398-605 Sentence denotes The emerin gene has been mapped to Xq28 and encodes a 34-kDa serine-rich protein, emerin, which has been localized to the nuclear envelope in a wide variety of tissues, including skeletal and cardiac muscle.
T4 606-684 Sentence denotes Mutations spanning the emerin gene have been identified in patients with EDMD.
T5 685-807 Sentence denotes We present here the effect, on emerin protein expression, of two missense mutations identified in unrelated EDMD patients.
T6 808-926 Sentence denotes These alterations predict the replacement of a proline residue at position 183 with either a histidine or a threonine.
T7 927-1160 Sentence denotes Biochemical analysis has demonstrated that the mobility and expression levels of the mutant forms of emerin are indistinguishable from that of wild-type emerin, but that they have weakened interactions with nuclear lamina components.
T8 1161-1445 Sentence denotes In comparison with the usual EDMD phenotype, patients with P183 missense mutations have a later age at onset of first symptoms, elbow contractures, ankle contractures, upper limb weakness and lower limb weakness, but there is no difference for the age at onset of cardiac involvement.
T9 1446-1569 Sentence denotes This is the first report of protein studies on patients with missense mutations resulting in the clinical features of EDMD.
T10 1570-1670 Sentence denotes These studies demonstrate the importance of proline 183 for the proper structure/function of emerin.

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 79-121 SpecificDisease:D020389 denotes X-linked Emery-Dreifuss muscular dystrophy
T2 123-156 SpecificDisease:D020389 denotes Emery-Dreifuss muscular dystrophy
T3 158-162 SpecificDisease:D020389 denotes EDMD
T4 170-207 DiseaseClass:D040181+D009136 denotes X-linked recessive muscular dystrophy
T5 231-285 CompositeMention:D003286 denotes contractures of the elbows, Achilles tendons and spine
T6 306-320 DiseaseClass:D009133 denotes muscle wasting
T7 325-333 DiseaseClass:D018908 denotes weakness
T8 339-353 SpecificDisease:D009202 denotes cardiomyopathy
T9 370-396 SpecificDisease:OMIM:115080 denotes cardiac conduction defects
T10 679-683 SpecificDisease:D020389 denotes EDMD
T11 793-797 Modifier:D020389 denotes EDMD
T12 1190-1194 Modifier:D020389 denotes EDMD
T13 1289-1307 SpecificDisease:D003286 denotes elbow contractures
T14 1309-1327 SpecificDisease:D003286 denotes ankle contractures
T15 1329-1348 SpecificDisease:D018908 denotes upper limb weakness
T16 1353-1372 SpecificDisease:D018908 denotes lower limb weakness
T17 1425-1444 DiseaseClass:D006331 denotes cardiac involvement
T18 1564-1568 SpecificDisease:D020389 denotes EDMD

DisGeNET

Id Subject Object Predicate Lexical cue
T0 629-635 gene:2010 denotes emerin
T1 679-683 disease:C0410189 denotes EDMD
R1 T0 T1 associated_with emerin,EDMD

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 138-156 HP_0003560 denotes muscular dystrophy
T2 170-188 HP_0001419 denotes X-linked recessive
T3 170-178 HP_0001417 denotes X-linked
T4 189-207 HP_0003560 denotes muscular dystrophy
T5 231-257 HP_0002987 denotes contractures of the elbows
T6 231-243 HP_0001371 denotes contractures
T7 339-353 HP_0001638 denotes cardiomyopathy
T8 370-396 HP_0011675 denotes cardiac conduction defects
T9 1289-1307 HP_0002987 denotes elbow contractures
T10 1295-1307 HP_0001371 denotes contractures
T11 1309-1327 HP_0006466 denotes ankle contractures
T12 1315-1327 HP_0001371 denotes contractures
T13 1335-1348 HP_0003690 denotes limb weakness
T14 1340-1363 HP_0003690 denotes weakness and lower limb
T15 1353-1372 HP_0007340 denotes lower limb weakness
T16 1359-1372 HP_0003690 denotes limb weakness
T17 1425-1444 HP_0001627 denotes cardiac involvement

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T386 79-121 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy D020389
T387 123-156 SpecificDisease denotes Emery-Dreifuss muscular dystrophy D020389
T388 158-162 SpecificDisease denotes EDMD D020389
T389 170-207 DiseaseClass denotes X-linked recessive muscular dystrophy D040181+D009136
T390 231-285 CompositeMention denotes contractures of the elbows, Achilles tendons and spine D003286
T391 306-320 DiseaseClass denotes muscle wasting D009133
T392 325-333 DiseaseClass denotes weakness D018908
T393 339-353 SpecificDisease denotes cardiomyopathy D009202
T394 370-396 SpecificDisease denotes cardiac conduction defects OMIM:115080
T395 679-683 SpecificDisease denotes EDMD D020389
T396 793-797 Modifier denotes EDMD D020389
T397 1190-1194 Modifier denotes EDMD D020389
T398 1289-1307 SpecificDisease denotes elbow contractures D003286
T399 1309-1327 SpecificDisease denotes ankle contractures D003286
T400 1329-1348 SpecificDisease denotes upper limb weakness D018908
T401 1353-1372 SpecificDisease denotes lower limb weakness D018908
T402 1425-1444 DiseaseClass denotes cardiac involvement D006331
T403 1564-1568 SpecificDisease denotes EDMD D020389

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T386 79-121 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy D020389
T387 123-156 SpecificDisease denotes Emery-Dreifuss muscular dystrophy D020389
T388 158-162 SpecificDisease denotes EDMD D020389
T389 170-207 DiseaseClass denotes X-linked recessive muscular dystrophy D040181+D009136
T390 231-285 CompositeMention denotes contractures of the elbows, Achilles tendons and spine D003286
T391 306-320 DiseaseClass denotes muscle wasting D009133
T392 325-333 DiseaseClass denotes weakness D018908
T393 339-353 SpecificDisease denotes cardiomyopathy D009202
T394 370-396 SpecificDisease denotes cardiac conduction defects OMIM:115080
T395 679-683 SpecificDisease denotes EDMD D020389
T396 793-797 Modifier denotes EDMD D020389
T397 1190-1194 Modifier denotes EDMD D020389
T398 1289-1307 SpecificDisease denotes elbow contractures D003286
T399 1309-1327 SpecificDisease denotes ankle contractures D003286
T400 1329-1348 SpecificDisease denotes upper limb weakness D018908
T401 1353-1372 SpecificDisease denotes lower limb weakness D018908
T402 1425-1444 DiseaseClass denotes cardiac involvement D006331
T403 1564-1568 SpecificDisease denotes EDMD D020389

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 79-121 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy
T2 123-156 SpecificDisease denotes Emery-Dreifuss muscular dystrophy
T3 158-162 SpecificDisease denotes EDMD
T4 339-353 SpecificDisease denotes cardiomyopathy
T5 679-683 SpecificDisease denotes EDMD
T6 793-797 Modifier denotes EDMD
T7 1190-1194 SpecificDisease denotes EDMD
T8 1564-1568 SpecificDisease denotes EDMD

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 79-121 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy
T2 123-156 SpecificDisease denotes Emery-Dreifuss muscular dystrophy
T3 158-162 SpecificDisease denotes EDMD
T4 189-207 DiseaseClass denotes muscular dystrophy
T5 339-353 SpecificDisease denotes cardiomyopathy
T6 679-683 SpecificDisease denotes EDMD
T7 793-797 SpecificDisease denotes EDMD
T8 1190-1194 SpecificDisease denotes EDMD
T9 1564-1568 SpecificDisease denotes EDMD

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 79-121 SpecificDisease denotes X-linked Emery-Dreifuss muscular dystrophy
T2 123-156 SpecificDisease denotes Emery-Dreifuss muscular dystrophy
T3 158-162 SpecificDisease denotes EDMD
T4 339-353 Modifier denotes cardiomyopathy
T5 679-683 SpecificDisease denotes EDMD
T6 793-797 SpecificDisease denotes EDMD
T7 1190-1194 SpecificDisease denotes EDMD
T8 1564-1568 SpecificDisease denotes EDMD

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 88-121 SpecificDisease denotes Emery-Dreifuss muscular dystrophy
T2 123-156 SpecificDisease denotes Emery-Dreifuss muscular dystrophy
T3 158-162 Modifier denotes EDMD
T4 189-207 DiseaseClass denotes muscular dystrophy
T5 225-230 Modifier denotes early
T6 287-305 Modifier denotes slowly progressive
T7 339-353 SpecificDisease denotes cardiomyopathy
T8 370-396 Modifier denotes cardiac conduction defects
T9 577-604 DiseaseClass denotes skeletal and cardiac muscle
T10 679-683 Modifier denotes EDMD
T11 793-797 Modifier denotes EDMD
T12 1190-1194 Modifier denotes EDMD
T13 1251-1269 Modifier denotes later age at onset
T14 1289-1307 Modifier denotes elbow contractures
T15 1309-1327 Modifier denotes ankle contractures
T16 1329-1348 Modifier denotes upper limb weakness
T17 1353-1372 Modifier denotes lower limb weakness
T18 1409-1444 Modifier denotes age at onset of cardiac involvement
T19 1564-1568 Modifier denotes EDMD