PubMed:27129271
Annnotations
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 |