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PubMed:23956106 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-42 Sentence denotes The phenotype range of achondrogenesis 1A.
TextSentencer_T2 43-387 Sentence denotes Achondrogenesis 1A (ACG1A; OMIM 200600) is an autosomal recessive perinatally lethal skeletal dysplasia comprising intrauterine growth failure, micromelia, minor facial anomalies, deficient ossification of the skull, absent or extremely defective spinal ossification, short beaded ribs, and short deformed long bones with a stellate appearance.
TextSentencer_T3 388-509 Sentence denotes ACG1A is caused by mutations in the TRIP11 gene, resulting in deficiency of the Golgi microtubule associated protein 210.
TextSentencer_T4 510-673 Sentence denotes In this study we describe dizygotic twins with a clinical and radiological phenotype of ACG1A who were homozygous for a novel nonsense mutation in the TRIP11 gene.
TextSentencer_T5 674-920 Sentence denotes In addition, another patient with a milder manifestation, not readily distinguishable from those of other lethal skeletal dysplasias, was found to be a compound heterozygote for a nonsense mutation and a deletion of the 3' end of the TRIP11 gene.
TextSentencer_T6 921-1033 Sentence denotes We conclude that mutations of the TRIP11 gene may encompass a wider phenotypic range than previously recognized.
T1 0-42 Sentence denotes The phenotype range of achondrogenesis 1A.
T2 43-387 Sentence denotes Achondrogenesis 1A (ACG1A; OMIM 200600) is an autosomal recessive perinatally lethal skeletal dysplasia comprising intrauterine growth failure, micromelia, minor facial anomalies, deficient ossification of the skull, absent or extremely defective spinal ossification, short beaded ribs, and short deformed long bones with a stellate appearance.
T3 388-509 Sentence denotes ACG1A is caused by mutations in the TRIP11 gene, resulting in deficiency of the Golgi microtubule associated protein 210.
T4 510-673 Sentence denotes In this study we describe dizygotic twins with a clinical and radiological phenotype of ACG1A who were homozygous for a novel nonsense mutation in the TRIP11 gene.
T5 674-920 Sentence denotes In addition, another patient with a milder manifestation, not readily distinguishable from those of other lethal skeletal dysplasias, was found to be a compound heterozygote for a nonsense mutation and a deletion of the 3' end of the TRIP11 gene.
T6 921-1033 Sentence denotes We conclude that mutations of the TRIP11 gene may encompass a wider phenotypic range than previously recognized.

sonoma2

Id Subject Object Predicate Lexical cue
T0 23-41 DISEASE denotes achondrogenesis 1A
T1 23-41 GENE denotes achondrogenesis 1A
T2 43-61 DISEASE denotes Achondrogenesis 1A
T3 43-61 GENE denotes Achondrogenesis 1A
T4 63-68 DISEASE denotes ACG1A
T5 63-68 GENE denotes ACG1A
T6 128-146 CPA denotes skeletal dysplasia
T7 128-146 DISEASE denotes skeletal dysplasia
T8 158-185 CPA denotes intrauterine growth failure
T9 158-185 DISEASE denotes intrauterine growth failure
T10 187-197 CPA denotes micromelia
T11 199-221 CPA denotes minor facial anomalies
T12 205-221 DISEASE denotes facial anomalies
T13 223-232 NEGREG denotes deficient
T14 233-245 CPA denotes ossification
T15 260-266 NEGREG denotes absent
T16 280-309 CPA denotes defective spinal ossification
T17 311-328 CPA denotes short beaded ribs
T18 334-359 CPA denotes short deformed long bones
T19 367-386 CPA denotes stellate appearance
T20 388-393 DISEASE denotes ACG1A
T21 388-393 GENE denotes ACG1A
T22 397-403 REG denotes caused
T23 407-416 VAR denotes mutations
T24 424-430 GENE denotes TRIP11
T25 437-446 REG denotes resulting
T26 450-460 NEGREG denotes deficiency
T27 450-485 DISEASE denotes deficiency of the Golgi microtubule
T28 505-508 GENE denotes 210
T29 598-603 DISEASE denotes ACG1A
T30 598-603 GENE denotes ACG1A
T31 636-653 VAR denotes nonsense mutation
T32 661-667 GENE denotes TRIP11
T33 780-806 CPA denotes lethal skeletal dysplasias
T34 787-806 DISEASE denotes skeletal dysplasias
T35 854-871 VAR denotes nonsense mutation
T36 878-886 VAR denotes deletion
T37 908-914 GENE denotes TRIP11
T38 938-947 VAR denotes mutations
T39 955-961 GENE denotes TRIP11
T40 971-980 REG denotes encompass
R11 T23 T22 CauseOf mutations,caused
R12 T23 T25 CauseOf mutations,resulting
R13 T23 T26 CauseOf mutations,deficiency
R14 T24 T23 ThemeOf TRIP11,mutations
R15 T26 T25 CauseOf deficiency,resulting
R16 T28 T26 ThemeOf 210,deficiency
R17 T32 T31 ThemeOf TRIP11,nonsense mutation
R18 T35 T33 CauseOf nonsense mutation,lethal skeletal dysplasias
R0 T2 T6 ThemeOf Achondrogenesis 1A,skeletal dysplasia
R1 T4 T6 ThemeOf ACG1A,skeletal dysplasia
R2 T8 T6 ThemeOf intrauterine growth failure,skeletal dysplasia
R3 T10 T6 ThemeOf micromelia,skeletal dysplasia
R4 T11 T6 ThemeOf minor facial anomalies,skeletal dysplasia
R5 T14 T6 ThemeOf ossification,skeletal dysplasia
R6 T16 T6 ThemeOf defective spinal ossification,skeletal dysplasia
R7 T17 T6 ThemeOf short beaded ribs,skeletal dysplasia
R8 T18 T6 ThemeOf short deformed long bones,skeletal dysplasia
R9 T19 T6 ThemeOf stellate appearance,skeletal dysplasia
R10 T20 T22 ThemeOf ACG1A,caused
R19 T36 T33 CauseOf deletion,lethal skeletal dysplasias
R20 T37 T35 ThemeOf TRIP11,nonsense mutation
R21 T37 T36 ThemeOf TRIP11,deletion
R22 T37 T38 ThemeOf TRIP11,mutations
R23 T38 T40 CauseOf mutations,encompass
R24 T39 T35 ThemeOf TRIP11,nonsense mutation
R25 T39 T36 ThemeOf TRIP11,deletion
R26 T39 T38 ThemeOf TRIP11,mutations

DisGeNET

Id Subject Object Predicate Lexical cue
T0 63-68 gene:9321 denotes ACG1A
T1 43-58 disease:C0001079 denotes Achondrogenesis
T2 63-68 gene:9321 denotes ACG1A
T3 128-146 disease:C0410528 denotes skeletal dysplasia
T4 63-68 gene:9321 denotes ACG1A
T5 171-185 disease:C0015544 denotes growth failure
T6 63-68 gene:9321 denotes ACG1A
T7 171-185 disease:C0878787 denotes growth failure
R1 T0 T1 associated_with ACG1A,Achondrogenesis
R2 T2 T3 associated_with ACG1A,skeletal dysplasia
R3 T4 T5 associated_with ACG1A,growth failure
R4 T6 T7 associated_with ACG1A,growth failure

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 89-108 HP_0000007 denotes autosomal recessive
T2 121-146 HP_0005716 denotes lethal skeletal dysplasia
T3 128-146 HP_0002652 denotes skeletal dysplasia
T4 158-185 HP_0001511 denotes intrauterine growth failure
T5 171-185 HP_0001510 denotes growth failure
T6 187-197 HP_0002983 denotes micromelia
T7 205-221 HP_0001999 denotes facial anomalies
T8 223-258 HP_0004331 denotes deficient ossification of the skull
T9 280-296 HP_0008443 denotes defective spinal
T10 317-328 HP_0000923 denotes beaded ribs
T11 780-806 HP_0005716 denotes lethal skeletal dysplasias
T12 787-806 HP_0002652 denotes skeletal dysplasias

Allie

Id Subject Object Predicate Lexical cue
SS1_23956106_1_0 43-61 expanded denotes Achondrogenesis 1A
SS2_23956106_1_0 63-68 abbr denotes ACG1A
AE1_23956106_1_0 SS1_23956106_1_0 SS2_23956106_1_0 abbreviatedTo Achondrogenesis 1A,ACG1A

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
23956106-1#20#25#gene9321 63-68 gene9321 denotes ACG1A
23956106-1#78#103#diseaseC4021626 121-146 diseaseC4021626 denotes lethal skeletal dysplasia
20#25#gene932178#103#diseaseC4021626 23956106-1#20#25#gene9321 23956106-1#78#103#diseaseC4021626 associated_with ACG1A,lethal skeletal dysplasia

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 121-146 HP:0005716 denotes lethal skeletal dysplasia
AB2 187-197 HP:0002983 denotes micromelia
AB3 317-328 HP:0000923 denotes beaded ribs
AB4 780-806 HP:0005716 denotes lethal skeletal dysplasias

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 43-58 ORDO:932 denotes Achondrogenesis
TI1 23-38 ORDO:932 denotes achondrogenesis

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 253-258 http://purl.obolibrary.org/obo/UBERON_0003129 denotes skull
PD-UBERON-AE-B_T2 324-328 http://purl.obolibrary.org/obo/UBERON_0002228 denotes ribs
PD-UBERON-AE-B_T3 349-359 http://purl.obolibrary.org/obo/UBERON_0002495 denotes long bones

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 253-258 http://purl.obolibrary.org/obo/UBERON_0003129 denotes skull
PD-UBERON-AE-B_T2 324-328 http://purl.obolibrary.org/obo/UBERON_0002228 denotes ribs
PD-UBERON-AE-B_T3 349-359 http://purl.obolibrary.org/obo/UBERON_0002495 denotes long bones