DisGeNET - a database of gene-disease associations

HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, C3150730

Gene: GPI ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs137853582

GPI

0.800

GeneticVariation

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

dbSNP:

rs137853583

GPI

0.800

GeneticVariation

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

dbSNP:

rs137853584

GPI

0.800

GeneticVariation

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

dbSNP:

rs137853585

GPI

0.800

GeneticVariation

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

dbSNP:

rs267606851

GPI

0.800

GeneticVariation

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

dbSNP:

rs267606852

GPI

0.800

GeneticVariation

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

dbSNP:

rs267606853

GPI

0.800

GeneticVariation

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

dbSNP:

rs61754634

GPI

0.800

GeneticVariation

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

dbSNP:

rs137853582

GPI

0.800

GeneticVariation

UNIPROT

Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency.

9856489

1998

dbSNP:

rs137853583

GPI

0.800

GeneticVariation

UNIPROT

Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency.

9856489

1998

dbSNP:

rs137853584

GPI

0.800

GeneticVariation

UNIPROT

Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency.

9856489

1998

dbSNP:

rs137853585

GPI

0.800

GeneticVariation

UNIPROT

Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency.

9856489

1998

dbSNP:

rs267606851

GPI

0.800

GeneticVariation

UNIPROT

Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency.

9856489

1998

dbSNP:

rs267606852

GPI

0.800

GeneticVariation

UNIPROT

Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency.

9856489

1998

dbSNP:

rs267606853

GPI

0.800

GeneticVariation

UNIPROT

Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency.

9856489

1998

dbSNP:

rs61754634

GPI

0.800

GeneticVariation

UNIPROT

Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency.

9856489

1998

dbSNP:

rs137853582

GPI

0.800

GeneticVariation

UNIPROT

Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA).

9446754

1997

dbSNP:

rs137853583

GPI

0.800

GeneticVariation

UNIPROT

Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA).

9446754

1997

dbSNP:

rs137853584

GPI

0.800

GeneticVariation

UNIPROT

Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA).

9446754

1997

dbSNP:

rs137853585

GPI

0.800

GeneticVariation

UNIPROT

Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA).

9446754

1997

dbSNP:

rs267606851

GPI

0.800

GeneticVariation

UNIPROT

Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA).

9446754

1997

dbSNP:

rs267606852

GPI

0.800

GeneticVariation

UNIPROT

Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA).

9446754

1997

dbSNP:

rs267606853

GPI

0.800

GeneticVariation

UNIPROT

Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA).

9446754

1997

dbSNP:

rs61754634

GPI

0.800

GeneticVariation

UNIPROT

Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA).

9446754

1997

dbSNP:

rs137853582

GPI

0.800

GeneticVariation

UNIPROT

Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia.

8822954

1996