HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin.
|
28803808 |
2018 |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Hereditary non-spherocytic hemolytic anemia and severe glucose phosphate isomerase deficiency in an Indian patient homozygous for the L487F mutation in the human GPI gene.
|
22782259 |
2012 |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency.
|
9856489 |
1998 |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA).
|
9446754 |
1997 |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA).
|
9446754 |
1997 |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Study of the molecular defects in glucose phosphate isomerase-deficient patients affected by chronic hemolytic anemia.
|
8822952 |
1996 |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia.
|
8822954 |
1996 |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia.
|
7989588 |
1994 |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency.
|
8499925 |
1993 |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Generalised glucosephosphate isomerase (GPI) deficiency causing haemolytic anaemia, neuromuscular symptoms and impairment of granulocytic function: a new syndrome due to a new stable GPI variant with diminished specific activity (GPI Homburg).
|
4076245 |
1985 |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic and molecular mechanisms of the congenital defects in glucose phosphate isomerase activity: studies of four families.
|
411100 |
1977 |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|