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PubMed:7993996 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-98 Sentence denotes Mutations in the vasopressin V2 receptor gene in two families with nephrogenic diabetes insipidus.
TextSentencer_T2 99-308 Sentence denotes Congenital nephrogenic diabetes insipidus (CNDI) is a rare X-linked disorder in which the renal collecting duct is unresponsive to arginine vasopressin, and thus, the urine is consistently hypotonic to plasma.
TextSentencer_T3 309-440 Sentence denotes As a result, affected individuals are unable to concentrate urine and suffer from episodes of severe dehydration and hypernatremia.
TextSentencer_T4 441-554 Sentence denotes Recently, the association between arginine vasopressin V2 receptor gene mutations and CNDI has been demonstrated.
TextSentencer_T5 555-686 Sentence denotes In this report, two additional novel molecular defects of the arginine vasopressin V2 receptor gene in CNDI families are described.
TextSentencer_T6 687-801 Sentence denotes In one family, the affected individual demonstrated a G-->T transversion causing a nonsense mutation in codon 231.
TextSentencer_T7 802-950 Sentence denotes This mutation results in a glutamic acid becoming a termination codon, causing premature termination and truncation of the encoded receptor protein.
TextSentencer_T8 951-1047 Sentence denotes This mutation causes a NciI site within the gene to be abolished and a BsaWI site to be created.
TextSentencer_T9 1048-1206 Sentence denotes In the second family, affected individuals showed a 28-basepair duplicating insertion in the very beginning of exon 2 down-stream of the splice acceptor site.
TextSentencer_T10 1207-1389 Sentence denotes It was hypothesized that an insertion mutagenesis mechanism involves the formation of a stem-loop structure within the newly synthesized DNA strand, followed by a slipped mispairing.
TextSentencer_T11 1390-1492 Sentence denotes This may be a general mechanism for the deletion or insertion of repeated sequences within the genome.
TextSentencer_T12 1493-1667 Sentence denotes Recent data show that G-protein-coupled receptors are susceptible to many different mutations that often result in the loss of function, causing a similar clinical phenotype.
T1 0-98 Sentence denotes Mutations in the vasopressin V2 receptor gene in two families with nephrogenic diabetes insipidus.
T2 99-308 Sentence denotes Congenital nephrogenic diabetes insipidus (CNDI) is a rare X-linked disorder in which the renal collecting duct is unresponsive to arginine vasopressin, and thus, the urine is consistently hypotonic to plasma.
T3 309-440 Sentence denotes As a result, affected individuals are unable to concentrate urine and suffer from episodes of severe dehydration and hypernatremia.
T4 441-554 Sentence denotes Recently, the association between arginine vasopressin V2 receptor gene mutations and CNDI has been demonstrated.
T5 555-686 Sentence denotes In this report, two additional novel molecular defects of the arginine vasopressin V2 receptor gene in CNDI families are described.
T6 687-801 Sentence denotes In one family, the affected individual demonstrated a G-->T transversion causing a nonsense mutation in codon 231.
T7 802-950 Sentence denotes This mutation results in a glutamic acid becoming a termination codon, causing premature termination and truncation of the encoded receptor protein.
T8 951-1047 Sentence denotes This mutation causes a NciI site within the gene to be abolished and a BsaWI site to be created.
T9 1048-1206 Sentence denotes In the second family, affected individuals showed a 28-basepair duplicating insertion in the very beginning of exon 2 down-stream of the splice acceptor site.
T10 1207-1389 Sentence denotes It was hypothesized that an insertion mutagenesis mechanism involves the formation of a stem-loop structure within the newly synthesized DNA strand, followed by a slipped mispairing.
T11 1390-1492 Sentence denotes This may be a general mechanism for the deletion or insertion of repeated sequences within the genome.
T12 1493-1667 Sentence denotes Recent data show that G-protein-coupled receptors are susceptible to many different mutations that often result in the loss of function, causing a similar clinical phenotype.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 475-507 gene:554 denotes arginine vasopressin V2 receptor
T1 527-531 disease:C0677501 denotes CNDI
T2 475-507 gene:551 denotes arginine vasopressin V2 receptor
T3 527-531 disease:C0677501 denotes CNDI
R1 T0 T1 associated_with arginine vasopressin V2 receptor,CNDI
R2 T2 T3 associated_with arginine vasopressin V2 receptor,CNDI

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
7993996-0#17#40#gene554 17-40 gene554 denotes vasopressin V2 receptor
7993996-0#67#97#diseaseC0162283 67-97 diseaseC0162283 denotes nephrogenic diabetes insipidus
17#40#gene55467#97#diseaseC0162283 7993996-0#17#40#gene554 7993996-0#67#97#diseaseC0162283 associated_with vasopressin V2 receptor,nephrogenic diabetes insipidus

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 206-210 http://purl.obolibrary.org/obo/UBERON_0000058 denotes duct
PD-UBERON-AE-B_T2 266-271 http://purl.obolibrary.org/obo/UBERON_0001088 denotes urine
PD-UBERON-AE-B_T3 369-374 http://purl.obolibrary.org/obo/UBERON_0001088 denotes urine

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T1249 617-649 gene:551 denotes arginine vasopressin V2 receptor
T1250 658-662 disease:C0677501 denotes CNDI
R1 T1249 T1250 associated_with arginine vasopressin V2 receptor,CNDI
R2 T1249 T1250 associated_with arginine vasopressin V2 receptor,CNDI

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 110-140 HP:0009806 denotes nephrogenic diabetes insipidus
TI1 67-97 HP:0009806 denotes nephrogenic diabetes insipidus
AB2 410-421 HP:0001944 denotes dehydration
AB3 426-439 HP:0003228 denotes hypernatremia

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 110-140 ORDO:223 denotes nephrogenic diabetes insipidus
TI1 67-97 ORDO:223 denotes nephrogenic diabetes insipidus

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 206-210 http://purl.obolibrary.org/obo/UBERON_0000058 denotes duct
PD-UBERON-AE-B_T2 266-271 http://purl.obolibrary.org/obo/UBERON_0001088 denotes urine
PD-UBERON-AE-B_T3 369-374 http://purl.obolibrary.org/obo/UBERON_0001088 denotes urine