rs34422225, PIGA

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
CUI: C3806670
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
0.700 GeneticVariation UNIPROT Mutation analysis of the PIG-A gene in Korean patients with paroxysmal nocturnal haemoglobinuria. 12037021 2002
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
CUI: C3806670
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
0.700 GeneticVariation UNIPROT The spectrum of somatic mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria includes large deletions and small duplications. 10087994 1998
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
CUI: C3806670
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
0.700 GeneticVariation UNIPROT Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria. 8167330 1994
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
CUI: C3806670
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
0.700 GeneticVariation UNIPROT Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene. 8306954 1994
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
CUI: C3806670
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
0.700 GeneticVariation UNIPROT Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. 8500164 1993
Paroxysmal nocturnal hemoglobinuria
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
0.010 GeneticVariation BEFREE Analysis of the X-linked gene PIG-A from haemopoietic cells of a female PNH patient showed a homozygous C-55-T substitution that caused replacement of arginine with tryptophan at codon 19. 8652378 1996