PubMed:21564178
Annnotations
sentences
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
TextSentencer_T1 | 0-89 | Sentence | denotes | New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome. |
TextSentencer_T2 | 90-215 | Sentence | denotes | Netherton syndrome (NS) is a rare autosomal recessive genodermatosis caused by loss-of-function mutations in the SPINK5 gene. |
TextSentencer_T3 | 216-304 | Sentence | denotes | The clinical features include congenital ichthyosis, trichorrhexis invaginata and atopy. |
TextSentencer_T4 | 305-535 | Sentence | denotes | In this study, we report a new homozygous SPINK5 mutation, p.Gln333X, responsible for NS in affected members of two closely related Turkish families, and provide an overview of the genotype-phenotype correlation in this condition. |
T1 | 0-89 | Sentence | denotes | New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome. |
T2 | 90-215 | Sentence | denotes | Netherton syndrome (NS) is a rare autosomal recessive genodermatosis caused by loss-of-function mutations in the SPINK5 gene. |
T3 | 216-304 | Sentence | denotes | The clinical features include congenital ichthyosis, trichorrhexis invaginata and atopy. |
T4 | 305-535 | Sentence | denotes | In this study, we report a new homozygous SPINK5 mutation, p.Gln333X, responsible for NS in affected members of two closely related Turkish families, and provide an overview of the genotype-phenotype correlation in this condition. |
DisGeNET
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T0 | 15-21 | gene:11005 | denotes | SPINK5 |
T1 | 70-88 | disease:C0265962 | denotes | Netherton syndrome |
T2 | 203-209 | gene:11005 | denotes | SPINK5 |
T3 | 90-108 | disease:C0265962 | denotes | Netherton syndrome |
T4 | 347-353 | gene:11005 | denotes | SPINK5 |
T5 | 391-393 | disease:C0265962 | denotes | NS |
R1 | T0 | T1 | associated_with | SPINK5,Netherton syndrome |
R2 | T2 | T3 | associated_with | SPINK5,Netherton syndrome |
R3 | T4 | T5 | associated_with | SPINK5,NS |
PubmedHPO
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 124-143 | HP_0000007 | denotes | autosomal recessive |
T2 | 246-267 | HP_0007431 | denotes | congenital ichthyosis |
T3 | 257-267 | HP_0008064 | denotes | ichthyosis |
Allie
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
SS1_21564178_1_0 | 90-108 | expanded | denotes | Netherton syndrome |
SS2_21564178_1_0 | 110-112 | abbr | denotes | NS |
AE1_21564178_1_0 | SS1_21564178_1_0 | SS2_21564178_1_0 | abbreviatedTo | Netherton syndrome,NS |
DisGeNET5_gene_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
21564178-0#15#21#gene11005 | 15-21 | gene11005 | denotes | SPINK5 |
21564178-0#70#88#diseaseC0265962 | 70-88 | diseaseC0265962 | denotes | Netherton syndrome |
15#21#gene1100570#88#diseaseC0265962 | 21564178-0#15#21#gene11005 | 21564178-0#70#88#diseaseC0265962 | associated_with | SPINK5,Netherton syndrome |
PubCasesHPO
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
AB1 | 257-267 | HP:0008064 | denotes | ichthyosis |
PubCasesORDO
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
AB1 | 90-108 | ORDO:634 | denotes | Netherton syndrome |
TI1 | 70-88 | ORDO:634 | denotes | Netherton syndrome |