| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Phosphoglycerate Kinase 1 Deficiency
|
0.810 | GeneticVariation | BEFREE | The diagnosis of PGK deficiency was made based on the remarkably low (<5% of normal) erythrocyte PGK enzyme activity level and the identification of a missense (c. 491A --> T) PGK1 gene mutation. | 16740138 | 2006 | |||||
Phosphoglycerate Kinase 1 Deficiency
|
0.810 | GeneticVariation | UNIPROT | A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: mechanism of mutation and structure-function relationships. | 9744480 | 1998 | |||||
Phosphoglycerate Kinase 1 Deficiency
|
0.810 | GeneticVariation | UNIPROT | Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant. | 8615693 | 1996 | |||||
Phosphoglycerate Kinase 1 Deficiency
|
0.810 | GeneticVariation | UNIPROT | Molecular abnormality of a phosphoglycerate kinase variant (PGK-Alabama). | 8673469 | 1995 | |||||
Phosphoglycerate Kinase 1 Deficiency
|
0.810 | GeneticVariation | UNIPROT | Identification of new mutations in two phosphoglycerate kinase (PGK) variants expressing different clinical syndromes: PGK Créteil and PGK Amiens. | 8043870 | 1994 | |||||
Phosphoglycerate Kinase 1 Deficiency
|
0.810 | GeneticVariation | UNIPROT | A single amino acid substitution (157 Gly----Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria. | 1547346 | 1992 | |||||
Phosphoglycerate Kinase 1 Deficiency
|
0.810 | GeneticVariation | UNIPROT | Molecular abnormalities of a phosphoglycerate kinase variant generated by spontaneous mutation. | 1586722 | 1992 | |||||
Phosphoglycerate Kinase 1 Deficiency
|
0.810 | GeneticVariation | UNIPROT | Molecular defect of a phosphoglycerate kinase variant (PGK-Matsue) associated with hemolytic anemia: Leu----Pro substitution caused by T/A----C/G transition in exon 3. | 2001457 | 1991 | |||||
Phosphoglycerate Kinase 1 Deficiency
|
0.810 | GeneticVariation | UNIPROT | Use of cultured lymphoblastoid cells for the study of abnormal enzymes: molecular abnormality of a phosphoglycerate kinase variant associated with hemolytic anemia. | 6941312 | 1981 | |||||
Phosphoglycerate Kinase 1 Deficiency
|
0.810 | GeneticVariation | UNIPROT | Molecular abnormality of phosphoglycerate kinase-Uppsala associated with chronic nonspherocytic hemolytic anemia. | 6933565 | 1980 | |||||
Phosphoglycerate Kinase 1 Deficiency
|
0.810 | CausalMutation | CLINVAR | ||||||||
Parkinsonian Disorders
|
0.010 | GeneticVariation | BEFREE | To investigate the nigrostriatal system using 99mTc-TRODAT-1 SPECT binding and report the phenotype of three affected males with early onset levodopa responsive Parkinsonism harbouring the c.491 A > T/p.D164V pathogenic variant. | 30975619 | 2019 | |||||
Deficiency of phosphoglycerate kinase
|
0.010 | GeneticVariation | BEFREE | The diagnosis of PGK deficiency was made based on the remarkably low (<5% of normal) erythrocyte PGK enzyme activity level and the identification of a missense (c. 491A --> T) PGK1 gene mutation. | 16740138 | 2006 |