CD59 Deficiency
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
CD59 Deficiency
|
0.760 |
Biomarker
|
disease |
CTD_human |
|
|
|
CD59 Deficiency
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Paroxysmal nocturnal hemoglobinuria
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
Anemia, Hemolytic
|
0.120 |
Biomarker
|
disease |
HPO |
|
|
|
Polyneuropathy
|
0.120 |
Biomarker
|
disease |
HPO |
|
|
|
Absent reflex
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Paralysed
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Skeletal muscle atrophy
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Muscle weakness of limb
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Increased CSF protein
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Generalized hypotonia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Narcolepsy-Cataplexy Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
130 patients with narcolepsy-cataplexy (mean ± SD age 20 ± 10 yrs, 69% male) and 117 controls (22 ± 6.9 yrs, 62% male) were recruited and tested for human leukocyte antigen (HLA)-DQB1*0602 status, hyperoxia hypercapnic (change in minute ventilation (δV'(E))/carbon dioxide tension (δP(CO(2))) L·min(-1)·mmHg(-1)) and hypoxic (δV'(E) /change in arterial oxygen saturation measured by probe oximetry (δS(p,O(2))) L·min(-1) per %S(p,O(2))) responsiveness, and by spirometry.
|
20110394 |
2010 |
Paroxysmal nocturnal hemoglobinuria
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Paroxysmal nocturnal hemoglobinuria (PNH) is a hematopoietic disorder caused by PIGA mutations that lead to a loss of all glycosylphospatidylinositol (GPI)-anchored proteins including, CD55 and CD59.
|
15160958 |
2004 |
Premature ventricular contractions
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Premature ventricular complexes appeared later and at higher heart rate during verapamil than at baseline (119+/-21 vs. 127+/-27 min-1, P<0.05).
|
15720454 |
2005 |
Infection by human herpesvirus 7
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Human herpesvirus 7 infection increases the expression levels of CD46 and CD59 in target cells.
|
17412968 |
2007 |
Paroxysmal nocturnal hemoglobinuria
|
0.500 |
Biomarker
|
disease |
BEFREE |
Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by absence of CD55 and CD59 from the surface of affected cells.
|
18158579 |
2008 |
Endotoxemia
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Endotoxemia induced systemic IR as demonstrated by a 35% decrease in S(i) (3.17 +/- 1.66 to 2.06 +/- 0.73 x 10(-4) [microU * ml(-1) * min(-1)], P < 0.005), while there was no effect on pancreatic beta-cell function.
|
19794059 |
2010 |
Hepatitis B
|
0.020 |
Biomarker
|
disease |
BEFREE |
Hepatitis B virus X protein activates CD59 involving DNA binding and let-7i in protection of hepatoma and hepatic cells from complement attack.
|
21665888 |
2011 |
Chronic Kidney Diseases
|
0.080 |
Biomarker
|
group |
BEFREE |
Chronic kidney disease (CKD) was diagnosed in individuals with proteinuria and/or decreased eGFR ≤60 ml min(-1) per 1.73 m(2).
|
21832999 |
2011 |
CD59 Deficiency
|
0.760 |
GermlineCausalMutation
|
disease |
ORPHANET |
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 |
CD59 Deficiency
|
0.760 |
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 |
CD59 Deficiency
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
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 |
CD59 Deficiency
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
Paroxysmal nocturnal hemoglobinuria
|
0.500 |
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 |