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PubMed:23924173 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-128 Sentence denotes Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome.
TextSentencer_T2 129-140 Sentence denotes BACKGROUND:
TextSentencer_T3 141-340 Sentence denotes Keratitis-Ichthyosis-Deafness (KID) syndrome (OMIM 148210) is a congenital ectodermal defect that consists of an atypical ichthyosiform erythroderma associated with congenital sensorineural deafness.
TextSentencer_T4 341-429 Sentence denotes KID appears to be genetically heterogeneous and most cases are caused by GJB2 mutations.
TextSentencer_T5 430-487 Sentence denotes Mutations in African patients have been rarely described.
TextSentencer_T6 488-506 Sentence denotes CASE PRESENTATION:
TextSentencer_T7 507-631 Sentence denotes We report on two unrelated Cameroonian individuals affected with sporadic KID, presenting with the classic phenotypic triad.
TextSentencer_T8 632-709 Sentence denotes The two patients were heterozygous for the most frequent p.Asp50Asn mutation.
TextSentencer_T9 710-894 Sentence denotes This first report in patients from sub-Saharan African origin supports the hypothesis that the occurrence of KID due to p.Asp50Asn mutation in GJB2 seems not to be population specific.
TextSentencer_T10 895-907 Sentence denotes CONCLUSIONS:
TextSentencer_T11 908-1024 Sentence denotes Our finding has implication in medical genetic practice, specifically in the molecular diagnosis of KID in Africans.
TextSentencer_T12 1025-1238 Sentence denotes These cases also reveal and emphasize the urgent need to develop appropriate policies to care for patients with rare/orphan diseases in Sub-Saharan Africa, as many of these cases become more and more recognizable.
T1 0-128 Sentence denotes Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome.
T2 129-140 Sentence denotes BACKGROUND:
T3 141-340 Sentence denotes Keratitis-Ichthyosis-Deafness (KID) syndrome (OMIM 148210) is a congenital ectodermal defect that consists of an atypical ichthyosiform erythroderma associated with congenital sensorineural deafness.
T4 341-429 Sentence denotes KID appears to be genetically heterogeneous and most cases are caused by GJB2 mutations.
T5 430-487 Sentence denotes Mutations in African patients have been rarely described.
T6 488-506 Sentence denotes CASE PRESENTATION:
T7 507-631 Sentence denotes We report on two unrelated Cameroonian individuals affected with sporadic KID, presenting with the classic phenotypic triad.
T8 632-709 Sentence denotes The two patients were heterozygous for the most frequent p.Asp50Asn mutation.
T9 710-894 Sentence denotes This first report in patients from sub-Saharan African origin supports the hypothesis that the occurrence of KID due to p.Asp50Asn mutation in GJB2 seems not to be population specific.
T10 895-907 Sentence denotes CONCLUSIONS:
T11 908-1024 Sentence denotes Our finding has implication in medical genetic practice, specifically in the molecular diagnosis of KID in Africans.
T12 1025-1238 Sentence denotes These cases also reveal and emphasize the urgent need to develop appropriate policies to care for patients with rare/orphan diseases in Sub-Saharan Africa, as many of these cases become more and more recognizable.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 40-44 gene:2706 denotes GJB2
T1 83-92 disease:C0022568 denotes keratitis
T2 40-44 gene:2706 denotes GJB2
T3 114-127 disease:C0265336 denotes KID) syndrome
T4 40-44 gene:2706 denotes GJB2
T5 114-127 disease:C3665333 denotes KID) syndrome
R1 T0 T1 associated_with GJB2,keratitis
R2 T2 T3 associated_with GJB2,KID) syndrome
R3 T4 T5 associated_with GJB2,KID) syndrome

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 151-161 HP_0008064 denotes Ichthyosis
T2 162-170 HP_0000365 denotes Deafness
T3 277-289 HP_0001019 denotes erythroderma
T4 306-339 HP_0008527 denotes congenital sensorineural deafness
T5 317-339 HP_0000407 denotes sensorineural deafness
T6 331-339 HP_0000365 denotes deafness

Allie

Id Subject Object Predicate Lexical cue
SS1_23924173_0_0 83-112 expanded denotes keratitis-ichthyosis-deafness
SS2_23924173_0_0 114-117 abbr denotes KID
SS1_23924173_2_0 141-170 expanded denotes Keratitis-Ichthyosis-Deafness
SS2_23924173_2_0 172-175 abbr denotes KID
AE1_23924173_0_0 SS1_23924173_0_0 SS2_23924173_0_0 abbreviatedTo keratitis-ichthyosis-deafness,KID
AE1_23924173_2_0 SS1_23924173_2_0 SS2_23924173_2_0 abbreviatedTo Keratitis-Ichthyosis-Deafness,KID

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
23924173-0#40#44#gene2706 40-44 gene2706 denotes GJB2
23924173-0#114#127#diseaseC0265336 114-127 diseaseC0265336 denotes KID) syndrome
23924173-0#114#127#diseaseC3665333 114-127 diseaseC3665333 denotes KID) syndrome
23924173-0#83#92#diseaseC0022568 83-92 diseaseC0022568 denotes keratitis
40#44#gene2706114#127#diseaseC0265336 23924173-0#40#44#gene2706 23924173-0#114#127#diseaseC0265336 associated_with GJB2,KID) syndrome
40#44#gene2706114#127#diseaseC3665333 23924173-0#40#44#gene2706 23924173-0#114#127#diseaseC3665333 associated_with GJB2,KID) syndrome
40#44#gene270683#92#diseaseC0022568 23924173-0#40#44#gene2706 23924173-0#83#92#diseaseC0022568 associated_with GJB2,keratitis

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
23924173-0#13#23#geners28931594 13-23 geners28931594 denotes p.Asp50Asn
23924173-0#114#127#diseaseC0265336 114-127 diseaseC0265336 denotes KID) syndrome
13#23#geners28931594114#127#diseaseC0265336 23924173-0#13#23#geners28931594 23924173-0#114#127#diseaseC0265336 associated_with p.Asp50Asn,KID) syndrome

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 132-150 HP:0000491 denotes KGROUND: Keratitis
AB2 151-161 HP:0008064 denotes Ichthyosis
TI1 83-92 HP:0000491 denotes keratitis
TI2 93-103 HP:0008064 denotes ichthyosis
AB3 277-289 HP:0001019 denotes erythroderma

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 172-185 ORDO:477 denotes KID) syndrome
TI1 114-127 ORDO:477 denotes KID) syndrome

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 216-226 http://purl.obolibrary.org/obo/UBERON_0000924 denotes ectodermal

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 216-226 http://purl.obolibrary.org/obo/UBERON_0000924 denotes ectodermal