PIEZO1, piezo type mechanosensitive ion channel component 1, 9780
N. diseases: 130; N. variants: 42
Source: ALL
Disease | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year |
---|---|---|---|---|---|---|---|
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0.600 | Biomarker | disease | GENOMICS_ENGLAND | Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia. | 26387913 | 2015 |
|
0.600 | Biomarker | disease | GENOMICS_ENGLAND | Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops. | 23581886 | 2014 |
|
0.600 | GeneticVariation | disease | UNIPROT | Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops. | 23581886 | 2014 |
|
0.600 | GeneticVariation | disease | UNIPROT | Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: a case report. | 23973043 | 2014 |
|
0.600 | GeneticVariation | disease | UNIPROT | Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. | 23479567 | 2013 |
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0.600 | GeneticVariation | disease | CLINVAR | Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. | 23479567 | 2013 |
|
0.600 | GeneticVariation | disease | CLINVAR | Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels. | 23695678 | 2013 |
|
0.600 | GeneticVariation | disease | UNIPROT | Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1. | 23487776 | 2013 |
|
0.600 | GeneticVariation | disease | UNIPROT | Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels. | 23695678 | 2013 |
|
0.600 | GeneticVariation | disease | UNIPROT | Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. | 22529292 | 2012 |
|
0.600 | Biomarker | disease | GENOMICS_ENGLAND | Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. | 22529292 | 2012 |
|
0.600 | CausalMutation | disease | CLINVAR |