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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-180 Sentence denotes NEMO gene rearrangement (exon 4-10 deletion) and genotype-phenotype relationship in Japanese patients with incontinentia pigmenti and review of published work in Japanese patients.
TextSentencer_T2 181-366 Sentence denotes Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis caused by mutations of the NEMO gene, which is required for activation of the nuclear factor-κB signaling pathway.
TextSentencer_T3 367-467 Sentence denotes NEMO gene rearrangement, exon 4-10 deletion, is the most common mutation with a frequency of 60-80%.
TextSentencer_T4 468-557 Sentence denotes Only four case reports about NEMO rearrangement in Japanese IP cases have been published.
TextSentencer_T5 558-721 Sentence denotes In our study, NEMO gene rearrangement was examined in 10 Japanese IP patients and their mothers and was revealed in five of 10 patients and three of their mothers.
TextSentencer_T6 722-907 Sentence denotes Interestingly, NEMO gene rearrangement was confirmed in the mothers of two patients without clinical symptoms; thus, NEMO mutation analysis is helpful to detect subclinical IP patients.
TextSentencer_T7 908-1118 Sentence denotes The clinical symptoms of recently diagnosed Japanese IP patients were summarized for examination of the phenotype-genotype relationship and for comparison between those with and without NEMO gene rearrangement.
TextSentencer_T8 1119-1357 Sentence denotes Results revealed no definite difference in extracutaneous manifestations between the patients with NEMO rearrangement in our study and in other Japanese IP patients previously reported in both Japanese and English-language published work.
TextSentencer_T9 1358-1452 Sentence denotes However, there is higher frequency of ocular manifestation in our study than in other reports.
TextSentencer_T10 1453-1583 Sentence denotes Furthermore, evaluation of dental and nail abnormalities was difficult because most of our patients were observed for 1 year only.
TextSentencer_T11 1584-1712 Sentence denotes Long-term observation is needed for proper evaluation of the clinical status and phenotype-genotype relationship in IP patients.
T1 0-180 Sentence denotes NEMO gene rearrangement (exon 4-10 deletion) and genotype-phenotype relationship in Japanese patients with incontinentia pigmenti and review of published work in Japanese patients.
T2 181-366 Sentence denotes Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis caused by mutations of the NEMO gene, which is required for activation of the nuclear factor-κB signaling pathway.
T3 367-467 Sentence denotes NEMO gene rearrangement, exon 4-10 deletion, is the most common mutation with a frequency of 60-80%.
T4 468-557 Sentence denotes Only four case reports about NEMO rearrangement in Japanese IP cases have been published.
T5 558-721 Sentence denotes In our study, NEMO gene rearrangement was examined in 10 Japanese IP patients and their mothers and was revealed in five of 10 patients and three of their mothers.
T6 722-907 Sentence denotes Interestingly, NEMO gene rearrangement was confirmed in the mothers of two patients without clinical symptoms; thus, NEMO mutation analysis is helpful to detect subclinical IP patients.
T7 908-1118 Sentence denotes The clinical symptoms of recently diagnosed Japanese IP patients were summarized for examination of the phenotype-genotype relationship and for comparison between those with and without NEMO gene rearrangement.
T8 1119-1357 Sentence denotes Results revealed no definite difference in extracutaneous manifestations between the patients with NEMO rearrangement in our study and in other Japanese IP patients previously reported in both Japanese and English-language published work.
T9 1358-1452 Sentence denotes However, there is higher frequency of ocular manifestation in our study than in other reports.
T10 1453-1583 Sentence denotes Furthermore, evaluation of dental and nail abnormalities was difficult because most of our patients were observed for 1 year only.
T11 1584-1712 Sentence denotes Long-term observation is needed for proper evaluation of the clinical status and phenotype-genotype relationship in IP patients.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 0-4 gene:8517 denotes NEMO
T1 107-129 disease:C0021171 denotes incontinentia pigmenti
T2 0-4 gene:8517 denotes NEMO
T3 107-129 disease:C2930820 denotes incontinentia pigmenti
T4 279-283 gene:8517 denotes NEMO
T5 181-203 disease:C2930820 denotes Incontinentia pigmenti
T6 279-283 gene:8517 denotes NEMO
T7 181-203 disease:C0021171 denotes Incontinentia pigmenti
T8 839-843 gene:8517 denotes NEMO
T9 895-897 disease:C2930820 denotes IP
T10 839-843 gene:8517 denotes NEMO
T11 895-897 disease:C0021171 denotes IP
R1 T0 T1 associated_with NEMO,incontinentia pigmenti
R2 T2 T3 associated_with NEMO,incontinentia pigmenti
R3 T4 T5 associated_with NEMO,Incontinentia pigmenti
R4 T6 T7 associated_with NEMO,Incontinentia pigmenti
R5 T8 T9 associated_with NEMO,IP
R6 T10 T11 associated_with NEMO,IP

Allie

Id Subject Object Predicate Lexical cue
SS1_23398170_1_0 181-203 expanded denotes Incontinentia pigmenti
SS2_23398170_1_0 205-207 abbr denotes IP
AE1_23398170_1_0 SS1_23398170_1_0 SS2_23398170_1_0 abbreviatedTo Incontinentia pigmenti,IP

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 219-236 HP_0001423 denotes X-linked dominant
T2 219-227 HP_0001417 denotes X-linked
T3 1480-1509 HP_0000164 denotes dental and nail abnormalities
T4 1491-1509 HP_0001597 denotes nail abnormalities

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
23398170-0#0#4#gene8517 0-4 gene8517 denotes NEMO
23398170-0#107#129#diseaseC0021171 107-129 diseaseC0021171 denotes incontinentia pigmenti
0#4#gene8517107#129#diseaseC0021171 23398170-0#0#4#gene8517 23398170-0#107#129#diseaseC0021171 associated_with NEMO,incontinentia pigmenti

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1491-1495 http://purl.obolibrary.org/obo/UBERON_0001705 denotes nail

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 181-203 ORDO:464 denotes Incontinentia pigmenti
TI1 107-129 ORDO:464 denotes incontinentia pigmenti

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1491-1495 http://purl.obolibrary.org/obo/UBERON_0001705 denotes nail