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PubMed:16158428 JSONTXT

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LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-144 Sentence denotes Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families.
T2 145-288 Sentence denotes Recent reports have demonstrated that mutations in the OPHN1 gene were responsible for a syndromic rather than non-specific mental retardation.
T3 289-414 Sentence denotes Abnormalities of the posterior fossa with cerebellar hypoplasia have been demonstrated in all male patients reported to date.
T4 415-658 Sentence denotes We report here a new family with X-linked mental retardation due to mutation in OPHN1 and present unpublished data about two families previously reported, concerning the facial and psychological phenotype of affected males and carrier females.
T5 659-736 Sentence denotes Our study confirms that cerebellar hypoplasia is a hallmark of this syndrome.
T6 737-821 Sentence denotes In addition, affected males display facial similarities that can help the diagnosis.
T7 822-898 Sentence denotes Most carrier females have mild mental retardation and subtle facial changes.

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 320-325 OrganismTaxon denotes fossa NCBItxid:94188

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
2292 54-59 GeneOrGeneProduct denotes OPHN1 NCBIGene:4983
2293 200-205 GeneOrGeneProduct denotes OPHN1 NCBIGene:4983
2294 269-287 DiseaseOrPhenotypicFeature denotes mental retardation MESH:D008607
2295 331-352 DiseaseOrPhenotypicFeature denotes cerebellar hypoplasia MESH:C562568
2296 388-396 OrganismTaxon denotes patients NCBITaxon:9606
2297 448-475 DiseaseOrPhenotypicFeature denotes X-linked mental retardation MESH:D038901
2298 495-500 GeneOrGeneProduct denotes OPHN1 NCBIGene:4983
2299 683-704 DiseaseOrPhenotypicFeature denotes cerebellar hypoplasia MESH:C562568
2300 853-871 DiseaseOrPhenotypicFeature denotes mental retardation MESH:D008607

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 54-59 GeneOrGeneProduct denotes OPHN1
T2 60-69 GeneOrGeneProduct denotes mutations
T3 70-75 GeneOrGeneProduct denotes based
T4 178-192 GeneOrGeneProduct denotes that mutations
T5 200-205 GeneOrGeneProduct denotes OPHN1
T6 234-243 GeneOrGeneProduct denotes syndromic
T7 256-268 GeneOrGeneProduct denotes non-specific
T8 379-382 GeneOrGeneProduct denotes all
T9 383-387 GeneOrGeneProduct denotes male
T10 448-456 GeneOrGeneProduct denotes X-linked
T11 480-491 GeneOrGeneProduct denotes to mutation
T12 495-500 GeneOrGeneProduct denotes OPHN1
T13 632-637 GeneOrGeneProduct denotes males
T14 642-649 GeneOrGeneProduct denotes carrier
T15 727-735 GeneOrGeneProduct denotes syndrome
T16 759-764 GeneOrGeneProduct denotes males
T17 780-792 GeneOrGeneProduct denotes similarities
T18 802-806 GeneOrGeneProduct denotes help
T19 827-834 GeneOrGeneProduct denotes carrier

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 54-59 GeneOrGeneProduct denotes OPHN1
T2 200-205 GeneOrGeneProduct denotes OPHN1
T3 256-268 GeneOrGeneProduct denotes non-specific
T4 448-456 GeneOrGeneProduct denotes X-linked
T5 495-500 GeneOrGeneProduct denotes OPHN1
T6 642-649 GeneOrGeneProduct denotes carrier
T7 727-735 GeneOrGeneProduct denotes syndrome
T8 827-834 GeneOrGeneProduct denotes carrier

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 234-243 DiseaseOrPhenotypicFeature denotes syndromic D013577
T2 269-287 DiseaseOrPhenotypicFeature denotes mental retardation D008607
T3 331-352 DiseaseOrPhenotypicFeature denotes cerebellar hypoplasia C562568
T4 448-475 DiseaseOrPhenotypicFeature denotes X-linked mental retardation D038901
T5 683-704 DiseaseOrPhenotypicFeature denotes cerebellar hypoplasia C562568
T6 727-735 DiseaseOrPhenotypicFeature denotes syndrome D013577
T7 853-871 DiseaseOrPhenotypicFeature denotes mental retardation D008607

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 54-59 GeneOrGeneProduct denotes OPHN1
T2 200-205 GeneOrGeneProduct denotes OPHN1
T3 256-268 GeneOrGeneProduct denotes non-specific
T4 495-500 GeneOrGeneProduct denotes OPHN1

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 269-287 DiseaseOrPhenotypicFeature denotes mental retardation 0001071
T2 331-352 DiseaseOrPhenotypicFeature denotes cerebellar hypoplasia 0008939
T3 457-475 DiseaseOrPhenotypicFeature denotes mental retardation 0001071
T4 683-704 DiseaseOrPhenotypicFeature denotes cerebellar hypoplasia 0008939
T5 727-735 DiseaseOrPhenotypicFeature denotes syndrome 0002254
T6 798-801 DiseaseOrPhenotypicFeature denotes can 0012833
T7 853-871 DiseaseOrPhenotypicFeature denotes mental retardation 0001071

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 269-287 DiseaseOrPhenotypicFeature denotes mental retardation D008607
T2 331-352 DiseaseOrPhenotypicFeature denotes cerebellar hypoplasia C562568
T3 448-475 DiseaseOrPhenotypicFeature denotes X-linked mental retardation D038901
T4 683-704 DiseaseOrPhenotypicFeature denotes cerebellar hypoplasia C562568
T5 727-735 DiseaseOrPhenotypicFeature denotes syndrome D013577
T6 853-871 DiseaseOrPhenotypicFeature denotes mental retardation D008607

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 269-287 DiseaseOrPhenotypicFeature denotes mental retardation D008607
T2 331-352 DiseaseOrPhenotypicFeature denotes cerebellar hypoplasia C562568
T3 448-475 DiseaseOrPhenotypicFeature denotes X-linked mental retardation D038901
T4 683-704 DiseaseOrPhenotypicFeature denotes cerebellar hypoplasia C562568
T5 853-871 DiseaseOrPhenotypicFeature denotes mental retardation D008607

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 320-325 OrganismTaxon denotes fossa
T2 388-396 OrganismTaxon denotes patients

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label
T4 495-500 GeneOrGeneProduct denotes OPHN1
T3 256-268 GeneOrGeneProduct denotes non-specific
T2 200-205 GeneOrGeneProduct denotes OPHN1
T1 54-59 GeneOrGeneProduct denotes OPHN1
T5 853-871 DiseaseOrPhenotypicFeature denotes mental retardation D008607
T40044 683-704 DiseaseOrPhenotypicFeature denotes cerebellar hypoplasia C562568
T5680 448-475 DiseaseOrPhenotypicFeature denotes X-linked mental retardation D038901
T89335 331-352 DiseaseOrPhenotypicFeature denotes cerebellar hypoplasia C562568
T36129 269-287 DiseaseOrPhenotypicFeature denotes mental retardation D008607
T66723 388-396 OrganismTaxon denotes patients
T10077 320-325 OrganismTaxon denotes fossa

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
16158428-1#55#60#gene4983 200-205 gene4983 denotes OPHN1
16158428-1#124#142#diseaseC0025362 269-287 diseaseC0025362 denotes mental retardation
16158428-1#124#142#diseaseC3714756 269-287 diseaseC3714756 denotes mental retardation
16158428-3#80#85#gene4983 495-500 gene4983 denotes OPHN1
16158428-3#33#60#diseaseC1136249 448-475 diseaseC1136249 denotes X-linked mental retardation
55#60#gene4983124#142#diseaseC0025362 16158428-1#55#60#gene4983 16158428-1#124#142#diseaseC0025362 associated_with OPHN1,mental retardation
55#60#gene4983124#142#diseaseC3714756 16158428-1#55#60#gene4983 16158428-1#124#142#diseaseC3714756 associated_with OPHN1,mental retardation
80#85#gene498333#60#diseaseC1136249 16158428-3#80#85#gene4983 16158428-3#33#60#diseaseC1136249 associated_with OPHN1,X-linked mental retardation

DisGeNET

Id Subject Object Predicate Lexical cue
T0 200-205 gene:4983 denotes OPHN1
T1 269-287 disease:C0025362 denotes mental retardation
T2 495-500 gene:4983 denotes OPHN1
T3 448-475 disease:C1136249 denotes X-linked mental retardation
R1 T0 T1 associated_with OPHN1,mental retardation
R2 T2 T3 associated_with OPHN1,X-linked mental retardation