Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.200 GeneticVariation disease BEFREE We used peripheral blood flow cytometry to identify glycosylphosphatidylinositol-anchor deficient blood cells, a proaerolysin-resistant colony forming cell assay to select glycosylphosphatidylinositol-anchor deficient progenitor cells, a novel T-lymphocyte enrichment culture assay with proaerolysin selection to expand glycosylphosphatidylinositol-anchor deficient T lymphocytes, and PIG-A gene sequencing assays to identify and analyze PIG-A mutations in patients with aplastic anemia and myelodysplastic syndromes. 22315493 2012
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.170 GeneticVariation group BEFREE We used peripheral blood flow cytometry to identify glycosylphosphatidylinositol-anchor deficient blood cells, a proaerolysin-resistant colony forming cell assay to select glycosylphosphatidylinositol-anchor deficient progenitor cells, a novel T-lymphocyte enrichment culture assay with proaerolysin selection to expand glycosylphosphatidylinositol-anchor deficient T lymphocytes, and PIG-A gene sequencing assays to identify and analyze PIG-A mutations in patients with aplastic anemia and myelodysplastic syndromes. 22315493 2012
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.700 GeneticVariation disease BEFREE We suggest that the somatic PIG-A gene mutations highlight a subgroup of AA having a pathogenetic link with PNH. 9163589 1997
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.200 GeneticVariation disease BEFREE We suggest that the somatic PIG-A gene mutations highlight a subgroup of AA having a pathogenetic link with PNH. 9163589 1997
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.700 GeneticVariation disease BEFREE We report pairs of oligonucleotide primers for polymerase chain reaction that should be useful to amplify and analyze various regions of the PIG-A gene in patients with PNH. 8193350 1994
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.700 GeneticVariation disease BEFREE We produced an animal model of paroxysmal nocturnal hemoglobinuria by conditional Pig-a gene inactivation (Pig-a(-/-)) in hematopoietic cells; mice carrying two lox sites flanking exon 6 of the Pig-a gene were bred with mice carrying the transgene Cre-recombinase under the human c-fes promoter. 19679885 2010
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.700 GeneticVariation disease BEFREE We now show that two patients with PNH II cells also have somatic mutations of the same gene: these produce a partial rather than a total loss of PIG-A function. 7986731 1994
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		0.010 GeneticVariation disease BEFREE We identified 4 PIGA mutations in probands showing early myoclonic encephalopathy, West syndrome, or unclassified EOEE. 24706016 2014
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.200 GeneticVariation disease LHGDN We have studied a large series of AA patients with a GPI anchor-deficient clone (AA/PNH), including patients with minor clones, to determine whether their pattern of PIG-A mutations was identical to the reported spectrum in hemolytic PNH. 12424196 2003
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.200 GeneticVariation disease BEFREE We have studied a large series of AA patients with a GPI anchor-deficient clone (AA/PNH), including patients with minor clones, to determine whether their pattern of PIG-A mutations was identical to the reported spectrum in hemolytic PNH. 12424196 2003
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.700 GeneticVariation disease BEFREE We found no significant difference in the pattern of the PIG-A gene mutation between the AA patients with a GPI deficiency and those with de novo PNH. 10086790 1999
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.700 GeneticVariation disease BEFREE We describe here a patient with PNH due to a large insertion of 88 bp; DNA sequencing showed this to be a tandem repeat of PIG-A sequences. 9266921 1997
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.700 Biomarker disease BEFREE We conclude that genetic instability of the PIG-A gene is not a factor in the pathogenesis of PNH. 16543465 2006
CUI: C2676767
Disease: CD59 Deficiency
CD59 Deficiency 		0.020 GeneticVariation disease BEFREE We also examined mutations of the PIG-A gene in 11 patients with CD59 deficiency. 10086790 1999
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		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
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.200 GeneticVariation disease BEFREE Two different mutations of the PIG-A gene were found in the colonies/bursts at the time of AA. 10233366 1999
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.700 Biomarker disease BEFREE To define the phosphatidylinositol glycan-class A (PIG-A) gene abnormality in precursor cells and the changes of expression of glycosylphosphatidylinositol-anchored protein and contribution of paroxysmal nocturnal hemoglobinuria (PNH) clones with PIG-A gene abnormalities among various cell lineages during differentiation and maturation, we investigated CD59 expression on bone marrow CD34(+) cells and peripheral granulocytes from 3 patients with PNH and the PIG-A gene abnormalities in the CD59(-), CD59(+/-), and CD59(+) populations by nucleotide sequence analyses. 12411324 2002
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		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
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.700 GeneticVariation disease BEFREE Thus, the small somatic mutation in the PIG-A gene is also responsible for PNH in Thailand. 7655005 1995
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.700 GeneticVariation disease BEFREE Thus, small clones with PIG-A mutations exist commonly in normal individuals, showing clearly that PIG-A gene mutations are not sufficient for the development of PNH. 10220445 1999
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		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
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.170 Biomarker group BEFREE This theory is supported by clinical observation indicating that PIG-A mutant cells survive immune-mediated bone marrow injury in patients with aplastic anemia, PNH, and myelodysplastic syndromes. 12627846 2003
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.200 Biomarker disease BEFREE This theory is supported by clinical observation indicating that PIG-A mutant cells survive immune-mediated bone marrow injury in patients with aplastic anemia, PNH, and myelodysplastic syndromes. 12627846 2003
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.700 GeneticVariation disease BEFREE This suggests that a large proportion of individuals have cells with PIG-A mutations that are not detectable by flow cytometry and thus may have the potential to develop PNH. 10520035 1999
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.200 GeneticVariation disease LHGDN This review examines the clinical and biological relevance of PIG-A mutations in PNH, aplastic anemia and healthy controls. 16923549 2006