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PubMed:27129271 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
27129271_0 472-522 ProteinMutation denotes arginine to histidine substitution at position 217 rs143240087
27129271_1 524-535 ProteinMutation denotes p.Arg217His rs143240087
27129271_2 884-895 ProteinMutation denotes p.Arg217His rs143240087
27129271_3 1080-1091 ProteinMutation denotes p.Arg217His rs143240087

sentences

Id Subject Object Predicate Lexical cue
T1 0-113 Sentence denotes A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction.
T2 114-218 Sentence denotes Pannexin1 (PANX1) is probably best understood as an ATP release channel involved in paracrine signaling.
T3 219-350 Sentence denotes Given its ubiquitous expression, PANX1 pathogenic variants would be expected to lead to disorders involving multiple organ systems.
T4 351-537 Sentence denotes Using whole exome sequencing, we discovered the first patient with a homozygous PANX1 variant (c.650G→A) resulting in an arginine to histidine substitution at position 217 (p.Arg217His).
T5 538-728 Sentence denotes The 17-year-old female has intellectual disability, sensorineural hearing loss requiring bilateral cochlear implants, skeletal defects, including kyphoscoliosis, and primary ovarian failure.
T6 729-865 Sentence denotes Her consanguineous parents are each heterozygous for this variant but are not affected by the multiorgan syndromes noted in the proband.
T7 866-1007 Sentence denotes Expression of the p.Arg217His mutant in HeLa, N2A, HEK293T, and Ad293 cells revealed normal PANX1 glycosylation and cell surface trafficking.
T8 1008-1125 Sentence denotes Dye uptake, ATP release, and electrophysiological measurements revealed p.Arg217His to be a loss-of-function variant.
T9 1126-1248 Sentence denotes Co-expression of the mutant with wild-type PANX1 suggested the mutant was not dominant-negative to PANX1 channel function.
T10 1249-1382 Sentence denotes Collectively, we demonstrate a PANX1 missense change associated with human disease in the first report of a "PANX1-related disorder."

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
27129271-0#26#31#gene24145 26-31 gene24145 denotes PANX1
27129271-0#101#112#diseaseC3887505 101-112 diseaseC3887505 denotes Dysfunction
26#31#gene24145101#112#diseaseC3887505 27129271-0#26#31#gene24145 27129271-0#101#112#diseaseC3887505 associated_with PANX1,Dysfunction

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 565-588 HP:0001249 denotes intellectual disability
AB2 684-698 HP:0002751 denotes kyphoscoliosis

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 565-588 Phenotype denotes intellectual disability HP:0001249
T2 590-616 Phenotype denotes sensorineural hearing loss HP:0000407
T3 684-698 Phenotype denotes kyphoscoliosis HP:0002751

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 565-588 Disease denotes intellectual disability http://purl.obolibrary.org/obo/MONDO_0001071
T2 590-616 Disease denotes sensorineural hearing loss http://purl.obolibrary.org/obo/MONDO_0010576|http://purl.obolibrary.org/obo/MONDO_0020678
T4 704-727 Disease denotes primary ovarian failure http://purl.obolibrary.org/obo/MONDO_0005387

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 405-412 OrganismTaxon denotes patient 9606
T2 1318-1323 OrganismTaxon denotes human 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 336-341 Body_part denotes organ http://purl.obolibrary.org/obo/UBERON_0000062|http://purl.obolibrary.org/obo/UBERON_0003103