PGK1, phosphoglycerate kinase 1, 5230

N. diseases: 144; N. variants: 122
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 CausalMutation disease CLINVAR
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 GeneticVariation disease CLINVAR
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		0.770 Biomarker disease CTD_human
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0026848
Disease: Myopathy
Myopathy 		0.130 Biomarker group HPO
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.120 Biomarker disease HPO
CUI: C0022716
Disease: Menkes Kinky Hair Syndrome
Menkes Kinky Hair Syndrome 		0.120 GeneticVariation disease CLINVAR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0015967
Disease: Fever
Fever 		0.100 CausalMutation phenotype CLINVAR
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia 		0.100 Biomarker disease HPO
CUI: C0027080
Disease: Myoglobinuria
Myoglobinuria 		0.100 Biomarker phenotype HPO
CUI: C0030232
Disease: Pallor
Pallor 		0.100 CausalMutation phenotype CLINVAR
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0037763
Disease: Spasm
Spasm 		0.100 Biomarker phenotype HPO
CUI: C0040822
Disease: Tremor
Tremor 		0.100 Biomarker phenotype HPO
CUI: C0085633
Disease: Mood swings
Mood swings 		0.100 Biomarker disease HPO
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.100 Biomarker group HPO
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.100 Biomarker phenotype HPO
CUI: C0206160
Disease: Reticulocytosis
Reticulocytosis 		0.100 Biomarker phenotype HPO
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin 		0.100 CausalMutation phenotype CLINVAR
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.100 GeneticVariation disease CLINVAR
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		0.100 CausalMutation disease CLINVAR