Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 Biomarker phenotype HPO
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C0151746
Disease: Abnormal renal function
Abnormal renal function 		0.100 Biomarker phenotype HPO
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology 		0.100 Biomarker phenotype HPO
CUI: C4024905
Disease: Abnormality of the pons
Abnormality of the pons 		0.100 Biomarker disease HPO
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		0.100 Biomarker disease HPO
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 Biomarker phenotype HPO
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		0.010 GeneticVariation disease BEFREE The Phosphatidylinositol glycan class A (PIG-A) gene mutation assay phenotypically measures erythrocyte mutations, assessed here for their correlation to neoplastic progression in the gastro-oesophageal reflux disease (GORD)-Barrett's metaplasia (BM)-oesophageal adenocarcinoma (OAC) model. 30914682 2019
CUI: C0278764
Disease: Adult Burkitt Lymphoma
Adult Burkitt Lymphoma 		0.010 GeneticVariation disease BEFREE GPI-anchored protein deficiency in Burkitt lymphoma cells is not due to a genetic mutation (e.g., PIGA); rather, the lack of GPI-anchored proteins results from transcriptional silencing of PIGL and PIGY. 19302917 2009
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 GeneticVariation disease BEFREE Somatic PIG-A mutations could arise after aplasia, or healthy persons could have rare PIG-A mutant cells that expand under selection pressure. 11750098 2001
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.100 Biomarker disease HPO
CUI: C0002879
Disease: Anemia, Hemolytic, Acquired
Anemia, Hemolytic, Acquired 		0.030 GeneticVariation disease BEFREE Paroxysmal nocturnal hemoglobinuria is an acquired hemolytic anemia associated with somatic mutations in the X-linked gene PIG-A, which encodes a protein involved in the biosynthesis of glycosyl phosphatidylinositol anchors. 8541557 1995
CUI: C0002879
Disease: Anemia, Hemolytic, Acquired
Anemia, Hemolytic, Acquired 		0.030 GeneticVariation disease BEFREE Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hemolytic anemia caused by the expansion of a hematopoietic progenitor cell that has acquired a mutation in the X-linked PIGA gene. 19074066 2008
CUI: C0002879
Disease: Anemia, Hemolytic, Acquired
Anemia, Hemolytic, Acquired 		0.030 Biomarker disease BEFREE Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hemolytic anemia that is characterized by a deficiency of glycosylphosphatidylinositol-anchored membrane proteins due to phosphatidylinositol glycan-class A (PIG-A) gene abnormalities in various lineages of peripheral blood cells and hematopoietic precursors. 11301179 2001
CUI: C0002962
Disease: Angina Pectoris
Angina Pectoris 		0.100 Biomarker phenotype HPO
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 Biomarker phenotype HPO
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.200 GeneticVariation disease BEFREE 19 patients (51%) had aplastic anaemia; their PIG-A mutations were not different from those without pre-existing aplastic anaemia. 10233427 1999
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.200 GeneticVariation disease BEFREE Acute myelogenous leukemia with PIG-A gene mutation evolved from aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome. 11372733 2001
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: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.200 GeneticVariation disease BEFREE The most frequent base or type abnormalities of the PIG-A gene in AA and MDS patients were base substitutions or missense mutations, respectively, and deletions or frameshift mutations, respectively, in PNH patients. 16467865 2006
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 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 LHGDN This review examines the clinical and biological relevance of PIG-A mutations in PNH, aplastic anemia and healthy controls. 16923549 2006
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.200 Biomarker disease BEFREE CD59-deficient blood cells and PIG-A gene abnormalities in Japanese patients with aplastic anaemia. 10086790 1999
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