Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225184
Disease: LYMPHATIC MALFORMATION 6
LYMPHATIC MALFORMATION 6 		0.700 Biomarker disease GENOMICS_ENGLAND Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. 30712880 2019
CUI: C4225184
Disease: LYMPHATIC MALFORMATION 6
LYMPHATIC MALFORMATION 6 		0.700 Biomarker disease GENOMICS_ENGLAND Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia. 26387913 2015
CUI: C4225184
Disease: LYMPHATIC MALFORMATION 6
LYMPHATIC MALFORMATION 6 		0.700 GeneticVariation disease UNIPROT Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. 26333996 2015
CUI: C4225184
Disease: LYMPHATIC MALFORMATION 6
LYMPHATIC MALFORMATION 6 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. 22529292 2012
CUI: C4225184
Disease: LYMPHATIC MALFORMATION 6
LYMPHATIC MALFORMATION 6 		0.700 Biomarker disease CTD_human
CUI: C4225184
Disease: LYMPHATIC MALFORMATION 6
LYMPHATIC MALFORMATION 6 		0.700 GeneticVariation disease CLINVAR
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.600 AlteredExpression disease BEFREE Overall, these data demonstrate a role for PIEZO1 during erythropoiesis, since activation of PIEZO1 - both chemical and through activating mutations- delays erythroid maturation, revealing new insights in the pathophysiology of hereditary xerocytosis. 31413092 2020
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.600 Biomarker disease BEFREE This is the first demonstration of a direct link between PIEZO1 and iron metabolism, which defines the channel as a new hepatic iron metabolism regulator and as a possible therapeutic target of iron overload in DHS and other iron-loading anemias. 31737919 2020
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.600 GeneticVariation disease BEFREE PIEZO1 gain-of-function mutations delay reticulocyte maturation in hereditary xerocytosis. 31624108 2019
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.600 GeneticVariation disease BEFREE We recorded whole-cell currents from 29 patients with different types of congenital haemolytic anaemias: 14 with hereditary spherocytosis due to mutations in α-spectrin, β-spectrin, ankyrin and band 3 protein; 6 patients with hereditary xerocytosis due to mutations in Piezo1; 6 patients with enzymatic disorders (3 patients with glucose-6-phosphate dehydrogenase deficiency, 1 patient with pyruvate kinase deficiency, 1 patient with glutamate-cysteine ligase deficiency and 1 patient with glutathione reductase deficiency), 1 patient with β-thalassemia and 2 patients, carriers of several mutations and a complex genotype. 31040790 2019
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.600 GeneticVariation disease BEFREE Hereditary xerocytosis (HX) is caused by missense mutations in either the mechanosensitive cation channel PIEZO1 or the Ca<sup>2+</sup>-activated K<sup>+</sup> channel KCNN4. 31091145 2019
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.600 Biomarker disease BEFREE The focus of this study is on Piezo1, a newly discovered, large, mammalian, mechanosensitive ion channel, which has been linked to diseases such as dehydrated hereditary stomatocytosis (Xerocytosis) and lymphatic dysplasia. 30885080 2019
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.600 GeneticVariation disease BEFREE We use fatty acid supplementation to abrogate the phenotype of gain-of-function Piezo1 mutations causing human dehydrated hereditary stomatocytosis. 30867417 2019
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.600 Biomarker disease BEFREE We engineered a mouse model of hereditary xerocytosis and show that Plasmodium infection fails to cause experimental cerebral malaria in these mice due to the action of Piezo1 in RBCs and in T cells. 29576450 2018
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.600 GeneticVariation disease BEFREE Diseases associated with PIEZO1 include autosomal recessive generalised lymphatic dysplasia of Fotiou (GLDF) and autosomal dominant dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal oedema (DHS). 29331020 2018
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.600 Biomarker disease BEFREE Previous reports have indicated HX-associated PIEZO1 variants exhibit a partial gain-of-function phenotype with generation of mechanically activated currents that inactivate more slowly than wild type, indicating that increased cation permeability may lead to dehydration of PIEZO1-mutant HX erythrocytes. 28716860 2017
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.600 GeneticVariation disease BEFREE Genetic studies revealed the patient had hereditary xerocytosis (HX) due to a novel PIEZO1 mutation inherited from his mother and hemoglobin C (HbC) trait inherited from his father. 28121068 2017
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.600 GeneticVariation disease BEFREE Mutations that cause hereditary xerocytosis alter PIEZO1 kinetics. 28728821 2017
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.600 GeneticVariation disease BEFREE Missense, gain-of-function mutations in the PIEZO1 gene have been identified in several families as causative of dehydrated hereditary stomatocytosis or xerocytosis. 27756835 2016
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.600 GeneticVariation disease BEFREE Although the causative correlation between HPCHA and PIEZO1-gene mutated HX/DHS remains to be clarified, our findings raise an important question as to whether any of the HPCHA cases previously diagnosed in Japan may have in fact been the form of hemolytic anemia known as HX/DHS with PIEZO1 gene mutation. 26971963 2016
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.600 GeneticVariation disease BEFREE Mutations in PIEZO1, which encodes a mechanically activated ion channel, have been reported with autosomal dominant dehydrated hereditary stomatocytosis and non-immune hydrops of unknown aetiology. 26333996 2015
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.600 GeneticVariation disease BEFREE Gain-of-function mutations in PIEZO1 cause an autosomal dominant haemolytic anaemia in humans called dehydrated hereditary stomatocytosis. 26387913 2015
CUI: C4551512
Disease: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA 		0.600 Biomarker disease GENOMICS_ENGLAND Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia. 26387913 2015
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.600 GeneticVariation disease BEFREE The structure was also determined of a point mutation located on a conserved surface at the position equivalent to the human PIEZO1 mutation found in dehydrated hereditary stomatocytosis patients (M2225R). 25242456 2014
CUI: C0272051
Disease: Xerocytosis
Xerocytosis 		0.600 Biomarker disease GENOMICS_ENGLAND Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops. 23581886 2014