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PubMed:23317772 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-89 Sentence denotes Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.
TextSentencer_T2 90-100 Sentence denotes OBJECTIVE:
TextSentencer_T3 101-290 Sentence denotes Recently, several genes have been reported with mutations or variants that underlie a number of syndromic and non-syndromic forms of oligodontia including MSX1, PAX9, AXIN2, EDA and WNT10A.
TextSentencer_T4 291-410 Sentence denotes This study aimed to identify the causal mutations in a consanguineous Pakistan family with oligodontia and microdontia.
TextSentencer_T5 411-418 Sentence denotes DESIGN:
TextSentencer_T6 419-500 Sentence denotes Exome sequencing was performed in two of affected members of the Pakistan family.
TextSentencer_T7 501-509 Sentence denotes RESULTS:
TextSentencer_T8 510-661 Sentence denotes The exome sequencing data revealed that the affected individuals were homozygous with a novel mutation in exon 8 of the SMOC2 gene, c.681T>A (p.C227X).
TextSentencer_T9 662-674 Sentence denotes CONCLUSIONS:
TextSentencer_T10 675-836 Sentence denotes This is the second report describing SMOC2 mutations with oligodontia and microdontia underlining the key role for this signalling molecule in tooth development.
T1 0-89 Sentence denotes Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.
T2 90-100 Sentence denotes OBJECTIVE:
T3 101-290 Sentence denotes Recently, several genes have been reported with mutations or variants that underlie a number of syndromic and non-syndromic forms of oligodontia including MSX1, PAX9, AXIN2, EDA and WNT10A.
T4 291-410 Sentence denotes This study aimed to identify the causal mutations in a consanguineous Pakistan family with oligodontia and microdontia.
T5 411-418 Sentence denotes DESIGN:
T6 419-500 Sentence denotes Exome sequencing was performed in two of affected members of the Pakistan family.
T7 501-509 Sentence denotes RESULTS:
T8 510-661 Sentence denotes The exome sequencing data revealed that the affected individuals were homozygous with a novel mutation in exon 8 of the SMOC2 gene, c.681T>A (p.C227X).
T9 662-674 Sentence denotes CONCLUSIONS:
T10 675-836 Sentence denotes This is the second report describing SMOC2 mutations with oligodontia and microdontia underlining the key role for this signalling molecule in tooth development.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 712-717 gene:64094 denotes SMOC2
T1 733-744 disease:C0020608 denotes oligodontia
T2 712-717 gene:64094 denotes SMOC2
T3 749-760 disease:C0240340 denotes microdontia
R1 T0 T1 associated_with SMOC2,oligodontia
R2 T2 T3 associated_with SMOC2,microdontia

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 234-245 HP_0000677 denotes oligodontia
T2 382-393 HP_0000677 denotes oligodontia
T3 398-409 HP_0000691 denotes microdontia

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
23317772-1#155#159#gene4487 256-260 gene4487 denotes MSX1
23317772-1#133#144#diseaseC0020608 234-245 diseaseC0020608 denotes oligodontia
23317772-1#133#144#diseaseC4082304 234-245 diseaseC4082304 denotes oligodontia
155#159#gene4487133#144#diseaseC0020608 23317772-1#155#159#gene4487 23317772-1#133#144#diseaseC0020608 associated_with MSX1,oligodontia
155#159#gene4487133#144#diseaseC4082304 23317772-1#155#159#gene4487 23317772-1#133#144#diseaseC4082304 associated_with MSX1,oligodontia

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T1661 256-260 gene:4487 denotes MSX1
T1662 234-245 disease:C0020608 denotes oligodontia
R1 T1661 T1662 associated_with MSX1,oligodontia
R2 T1661 T1662 associated_with MSX1,oligodontia