Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 GeneticVariation disease BEFREE Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematopoietic stem cell disorder resulting from the somatic mutation of the X-linked phosphatidyl-inositol glycan complementation Class A (PIG-A) gene. 31069981 2019
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 GeneticVariation disease BEFREE Various gene mutations, including the phosphatidylinositol glycan anchor biosynthesis class A (PIG-A) gene, may contribute to the proliferation of PNH clones. 31086586 2019
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 Biomarker disease BEFREE Thus, PIGT-PNH differs from PIGA-PNH both in the mechanism of clonal expansion and in clinical manifestations. 31430258 2019
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 GeneticVariation disease BEFREE Paroxysmal nocturnal hemoglobinuria (PNH) arises as a consequence of the non-malignant clonal expansion of one or more hematopoietic stem cells with an acquired somatic mutation of the PIGA gene (Brodsky RA.Blood 113 (2009) 6522-6527). 29236352 2018
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 GeneticVariation disease BEFREE Paroxysmal nocturnal hemoglobinuria (PNH) is a clonal hematopoietic disease caused by expansion of a stem cell that harbors a somatic mutation in <i>PIGA</i> PIGA mutant blood cells are deficient in the complement regulator proteins CD55 and CD59, making them susceptible to intravascular hemolysis due to a failure to regulate the APC on erythrocytes. 30504334 2018
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 GeneticVariation disease BEFREE PIGA mutations in PNH clones and functional loss of HLA, including structural HLA mutations, likely represent immune escape clones and correlate with response to immunosuppressive therapy (IST). 30047413 2018
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 GeneticVariation disease BEFREE Phosphatidylinositol glycan anchor biosynthesis class A (PIGA) is a key enzyme in GPI anchor biosynthesis, somatic mutations or genetic variants of which have been associated with paroxysmal nocturnal hemoglobinuria (PNH), or PIGA deficiency, respectively. 29974678 2018
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 GeneticVariation disease BEFREE A somatic mutation of the PIGA gene underlies the clonal disease paroxysmal nocturnal haemoglobinuria (PNH): there is direct evidence that the expansion of the PIGA mutant clone results from Darwinian selection exerted by a glycosyl-phosphatidyl-inositol -specific auto-immune attack. 29974931 2018
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 GeneticVariation disease BEFREE Clinical manifestations of PNH occur when a HSC clone carrying somatic PIGA mutations acquires a growth advantage and differentiates, generating mature blood cells that are deficient of GPI-anchored proteins. 28516949 2017
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 GeneticVariation disease BEFREE Paroxysmal nocturnal hemoglobinuria (PNH) is a clonal nonneoplastic hematopoietic stem cell disease characterized by an acquired mutation of the PIG-A gene with reduction or absence of CD55 and CD59. 25688459 2015
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 GeneticVariation disease BEFREE Paroxysmal nocturnal hemoglobinuria (PNH) is a disorder of hematopoietic stem cells that has largely been considered a monogenic disorder due to acquisition of mutations in the gene encoding PIGA, which is required for glycosylphosphatidylinositol (GPI) anchor biosynthesis.In this issue of the JCI, Shen et al. discovered that PNH is in fact a complex genetic disorder orchestrated by many genetic alterations in addition to PIGA mutations. 25244089 2014
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 GeneticVariation disease BEFREE GPI anchor protein deficiency is almost always due to somatic mutations in phosphatidylinositol glycan class A (PIGA), a gene involved in the first step of GPI anchor biosynthesis; however, alternative mutations that cause PNH have recently been discovered. 25237200 2014
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 GeneticVariation disease BEFREE PNH has been considered a monogenic disease that results from somatic mutations in the gene encoding PIGA, which is required for biosynthesis of glycosylphosphatidylinisotol-anchored (GPI-anchored) proteins. 25244093 2014
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 GeneticVariation disease BEFREE To ascertain the genetic basis of a paroxysmal nocturnal hemoglobinuria (PNH) case without somatic mutations in PIGA, we performed deep next-generation sequencing on all exons of known genes of the glycosylphosphatidylinositol (GPI) anchor synthesis pathway. 23733340 2013
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 GeneticVariation disease BEFREE PNH is due to a somatic, acquired mutation in the X-linked phosphatidylinositol glycan class A (PIG-A) gene, which impairs the membrane expression on affected blood cells of a number of proteins, including the complement regulators CD55 and CD59. 23402025 2013
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 GeneticVariation disease BEFREE Because in PNH the biosynthesis of the glycolipid molecule glycosylphosphatidylinositol (GPI) is disrupted in hematopoietic stem and progenitor cells by a somatic mutation in the PIG-A gene, BMF might result from an autoimmune attack, whereby T cells target GPI in normal cells, whereas PIG-A mutant GPI-negative cells are spared. 23372165 2013
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 GeneticVariation disease BEFREE Paroxysmal nocturnal hemoglobinuria (PNH) is a unique disorder caused by a PIG-A gene mutation in a stem cell clone. 23281097 2013
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 GeneticVariation disease BEFREE The block in the normal plasma membrane PI production due to the PIG-A mutation can help explain the differences in the activation of intracellular regulatory pathways observed between PNH and normal HSC. 23076633 2013
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 GeneticVariation disease BEFREE In this issue of Blood, Krawitz et al report on a patient with paroxysmal nocturnal hemoglobinuria (PNH) who does not have a mutation of PIG-A, but in whom instead both alleles of PIG-T (another gene involved in glucosylphosphatidylinositol [GPI] biosynthesis) have inactivating mutations, one in the germ line and one somatic. 23950173 2013
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 GeneticVariation disease BEFREE CD59 deficiency is a common finding in RBCs and WBCs in patients with chronic hemolysis suffering from paroxysmal nocturnal hemoglobinuria in which the acquired mutation in the PIGA gene leads to membrane loss of glycosylphosphatidylinositol-anchored membrane proteins, including CD59. 23149847 2013
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 GeneticVariation disease BEFREE Herein, we report the constitutive expression of the transmembrane CD160 (CD160-TM) activating receptor on non PIGA-mutated PNH patients circulating NK cells. 22172098 2012
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 GeneticVariation disease BEFREE Although all patients with paroxysmal nocturnal hemoglobinuria (PNH) have acquired mutations in the phosphatidylinositol glycan class-A(PIG-A)gene, their clinical courses are highly variable. 22281992 2012
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 SomaticCausalMutation disease ORPHANET The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. 22305531 2012
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 GeneticVariation disease BEFREE Paroxysmal Nocturnal Haemoglobinuria (PNH) is due to pathological expansion of a stem progenitor bearing a somatic mutation of PIG-A gene involved in the biosynthesis of the glycosyl-phosphatidyl-inositol (GPI) anchor. 22206707 2012
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.700 Biomarker disease BEFREE Deregulated expression of HMGA2 is implicated in clonal expansion of PIGA deficient cells in paroxysmal nocturnal haemoglobinuria. 22017592 2012