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PubMed:21416598 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-81 Sentence denotes AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome.
TextSentencer_T2 82-404 Sentence denotes We describe a family with a novel, inherited AXIN2 mutation (c.1989G>A) segregating in an autosomal dominant pattern with oligodontia and variable other findings including colonic polyposis, gastric polyps, a mild ectodermal dysplasia phenotype with sparse hair and eyebrows, and early onset colorectal and breast cancers.
TextSentencer_T3 405-571 Sentence denotes This novel mutation predicts p.Trp663X, which is a truncated protein that is missing the last three exons, including the DIX (Disheveled and AXIN interacting) domain.
TextSentencer_T4 572-667 Sentence denotes This nonsense mutation is predicted to destroy the inhibitory action of AXIN2 on WNT signaling.
TextSentencer_T5 668-922 Sentence denotes Previous authors have described an unrelated family with autosomal dominant oligodontia and a variable colorectal phenotype segregating with a nonsense mutation of AXIN2, as well as a frameshift AXIN2 mutation in an unrelated individual with oligodontia.
TextSentencer_T6 923-1058 Sentence denotes Our report provides additional evidence supporting an autosomal dominant AXIN2-associated ectodermal dysplasia and neoplastic syndrome.
T1 0-81 Sentence denotes AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome.
T2 82-404 Sentence denotes We describe a family with a novel, inherited AXIN2 mutation (c.1989G>A) segregating in an autosomal dominant pattern with oligodontia and variable other findings including colonic polyposis, gastric polyps, a mild ectodermal dysplasia phenotype with sparse hair and eyebrows, and early onset colorectal and breast cancers.
T3 405-571 Sentence denotes This novel mutation predicts p.Trp663X, which is a truncated protein that is missing the last three exons, including the DIX (Disheveled and AXIN interacting) domain.
T4 572-667 Sentence denotes This nonsense mutation is predicted to destroy the inhibitory action of AXIN2 on WNT signaling.
T5 668-922 Sentence denotes Previous authors have described an unrelated family with autosomal dominant oligodontia and a variable colorectal phenotype segregating with a nonsense mutation of AXIN2, as well as a frameshift AXIN2 mutation in an unrelated individual with oligodontia.
T6 923-1058 Sentence denotes Our report provides additional evidence supporting an autosomal dominant AXIN2-associated ectodermal dysplasia and neoplastic syndrome.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 0-5 gene:8313 denotes AXIN2
T1 61-80 disease:C0027651 denotes neoplastic syndrome
T2 0-5 gene:8313 denotes AXIN2
T3 61-80 disease:C1882062 denotes neoplastic syndrome
T4 0-5 gene:8313 denotes AXIN2
T5 36-56 disease:C0013575 denotes ectodermal dysplasia
T6 127-132 gene:8313 denotes AXIN2
T7 204-215 disease:C0020608 denotes oligodontia
T8 127-132 gene:8313 denotes AXIN2
T9 389-403 disease:C0006142 denotes breast cancers
T10 127-132 gene:8313 denotes AXIN2
T11 296-316 disease:C0013575 denotes ectodermal dysplasia
T12 832-837 gene:8313 denotes AXIN2
T13 744-755 disease:C0020608 denotes oligodontia
T14 832-837 gene:8313 denotes AXIN2
T15 910-921 disease:C0020608 denotes oligodontia
T16 863-868 gene:8313 denotes AXIN2
T17 910-921 disease:C0020608 denotes oligodontia
T18 996-1001 gene:8313 denotes AXIN2
T19 1038-1057 disease:C1882062 denotes neoplastic syndrome
T20 996-1001 gene:8313 denotes AXIN2
T21 1038-1057 disease:C0027651 denotes neoplastic syndrome
T22 996-1001 gene:8313 denotes AXIN2
T23 1013-1033 disease:C0013575 denotes ectodermal dysplasia
R1 T0 T1 associated_with AXIN2,neoplastic syndrome
R2 T2 T3 associated_with AXIN2,neoplastic syndrome
R3 T4 T5 associated_with AXIN2,ectodermal dysplasia
R4 T6 T7 associated_with AXIN2,oligodontia
R5 T8 T9 associated_with AXIN2,breast cancers
R6 T10 T11 associated_with AXIN2,ectodermal dysplasia
R7 T12 T13 associated_with AXIN2,oligodontia
R8 T14 T15 associated_with AXIN2,oligodontia
R9 T16 T17 associated_with AXIN2,oligodontia
R10 T18 T19 associated_with AXIN2,neoplastic syndrome
R11 T20 T21 associated_with AXIN2,neoplastic syndrome
R12 T22 T23 associated_with AXIN2,ectodermal dysplasia

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 172-190 HP_0000006 denotes autosomal dominant
T2 204-215 HP_0000677 denotes oligodontia
T3 296-316 HP_0000968 denotes ectodermal dysplasia
T4 332-343 HP_0008070 denotes sparse hair
T5 332-356 HP_0000535 denotes sparse hair and eyebrows
T6 389-403 HP_0003002 denotes breast cancers
T7 389-403 HP_0100013 denotes breast cancers
T8 396-403 HP_0002664 denotes cancers
T9 725-743 HP_0000006 denotes autosomal dominant
T10 744-755 HP_0000677 denotes oligodontia
T11 910-921 HP_0000677 denotes oligodontia
T12 977-995 HP_0000006 denotes autosomal dominant
T13 1013-1033 HP_0000968 denotes ectodermal dysplasia

Allie

Id Subject Object Predicate Lexical cue
SS1_21416598_2_0 531-562 expanded denotes Disheveled and AXIN interacting
SS2_21416598_2_0 526-529 abbr denotes DIX
AE1_21416598_2_0 SS1_21416598_2_0 SS2_21416598_2_0 abbreviatedTo Disheveled and AXIN interacting,DIX

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
21416598-4#164#169#gene8313 832-837 gene8313 denotes AXIN2
21416598-4#195#200#gene8313 863-868 gene8313 denotes AXIN2
21416598-4#76#87#diseaseC0020608 744-755 diseaseC0020608 denotes oligodontia
21416598-4#76#87#diseaseC4082304 744-755 diseaseC4082304 denotes oligodontia
21416598-4#242#253#diseaseC0020608 910-921 diseaseC0020608 denotes oligodontia
21416598-4#242#253#diseaseC4082304 910-921 diseaseC4082304 denotes oligodontia
21416598-4#242#253#diseaseC0020608 910-921 diseaseC0020608 denotes oligodontia
21416598-4#242#253#diseaseC4082304 910-921 diseaseC4082304 denotes oligodontia
164#169#gene831376#87#diseaseC0020608 21416598-4#164#169#gene8313 21416598-4#76#87#diseaseC0020608 associated_with AXIN2,oligodontia
164#169#gene831376#87#diseaseC4082304 21416598-4#164#169#gene8313 21416598-4#76#87#diseaseC4082304 associated_with AXIN2,oligodontia
164#169#gene8313242#253#diseaseC0020608 21416598-4#164#169#gene8313 21416598-4#242#253#diseaseC0020608 associated_with AXIN2,oligodontia
164#169#gene8313242#253#diseaseC4082304 21416598-4#164#169#gene8313 21416598-4#242#253#diseaseC4082304 associated_with AXIN2,oligodontia
164#169#gene8313242#253#diseaseC0020608 21416598-4#164#169#gene8313 21416598-4#242#253#diseaseC0020608 associated_with AXIN2,oligodontia
164#169#gene8313242#253#diseaseC4082304 21416598-4#164#169#gene8313 21416598-4#242#253#diseaseC4082304 associated_with AXIN2,oligodontia
195#200#gene831376#87#diseaseC0020608 21416598-4#195#200#gene8313 21416598-4#76#87#diseaseC0020608 associated_with AXIN2,oligodontia
195#200#gene831376#87#diseaseC4082304 21416598-4#195#200#gene8313 21416598-4#76#87#diseaseC4082304 associated_with AXIN2,oligodontia
195#200#gene8313242#253#diseaseC0020608 21416598-4#195#200#gene8313 21416598-4#242#253#diseaseC0020608 associated_with AXIN2,oligodontia
195#200#gene8313242#253#diseaseC4082304 21416598-4#195#200#gene8313 21416598-4#242#253#diseaseC4082304 associated_with AXIN2,oligodontia
195#200#gene8313242#253#diseaseC0020608 21416598-4#195#200#gene8313 21416598-4#242#253#diseaseC0020608 associated_with AXIN2,oligodontia
195#200#gene8313242#253#diseaseC4082304 21416598-4#195#200#gene8313 21416598-4#242#253#diseaseC4082304 associated_with AXIN2,oligodontia

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 36-46 http://purl.obolibrary.org/obo/UBERON_0000924 denotes ectodermal
PD-UBERON-AE-B_T2 296-306 http://purl.obolibrary.org/obo/UBERON_0000924 denotes ectodermal
PD-UBERON-AE-B_T3 1013-1023 http://purl.obolibrary.org/obo/UBERON_0000924 denotes ectodermal
PD-UBERON-AE-B_T4 254-261 http://purl.obolibrary.org/obo/UBERON_0001155 denotes colonic
PD-UBERON-AE-B_T5 348-356 http://purl.obolibrary.org/obo/UBERON_0010163 denotes eyebrows
PD-UBERON-AE-B_T6 389-395 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 36-56 HP:0000968 denotes ectodermal dysplasia
AB1 204-215 HP:0000677 denotes oligodontia
AB2 296-316 HP:0000968 denotes ectodermal dysplasia
AB3 332-343 HP:0008070 denotes sparse hair
AB4 744-755 HP:0000677 denotes oligodontia
AB5 910-921 HP:0000677 denotes oligodontia
AB6 1013-1033 HP:0000968 denotes ectodermal dysplasia

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 204-215 ORDO:99798 denotes oligodontia
AB2 744-755 ORDO:99798 denotes oligodontia
AB3 910-921 ORDO:99798 denotes oligodontia

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 36-46 http://purl.obolibrary.org/obo/UBERON_0000924 denotes ectodermal
PD-UBERON-AE-B_T2 296-306 http://purl.obolibrary.org/obo/UBERON_0000924 denotes ectodermal
PD-UBERON-AE-B_T3 1013-1023 http://purl.obolibrary.org/obo/UBERON_0000924 denotes ectodermal
PD-UBERON-AE-B_T4 389-395 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T5 254-261 http://purl.obolibrary.org/obo/UBERON_0001155 denotes colonic
PD-UBERON-AE-B_T6 348-356 http://purl.obolibrary.org/obo/UBERON_0010163 denotes eyebrows