TPI1, triosephosphate isomerase 1, 7167

N. diseases: 184; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.010 GeneticVariation phenotype BEFREE Human TPI(I170V) elicits behavioral abnormalities in Drosophila. 25463631 2015
CUI: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement 		0.010 Biomarker disease BEFREE A patient with triosephosphate isomerase (TPI) deficiency exhibited worsening of abnormal involuntary movements of the dystonic type and developed psychiatric symptoms while on selegiline. 14743370 2004
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		0.100 Biomarker phenotype HPO
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia 		0.300 Biomarker disease CTD_human Proteomic identification of HNE-bound proteins in early Alzheimer disease: Insights into the role of lipid peroxidation in the progression of AD. 19374891 2009
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia 		0.010 Biomarker disease BEFREE Primary skeletal muscle myoblasts and Epstein-Barr virus (EBV)-transformed lymphoblastoid cell lines generated from homozygous TPI-deficient patients were cultured in the presence of exogenous enzyme or cocultured with human K562 erythroleukemia cells as an exogenous source of TPI. 10556207 1999
CUI: C0748355
Disease: Acute respiratory distress
Acute respiratory distress 		0.010 Biomarker disease BEFREE CD27<sup>+</sup>TIM-1<sup>+</sup> memory B cells promoted the development of Foxp3<sup>+</sup> Tregs and were associated with better survival in acute respiratory distress syndrome. 29392553 2018
CUI: C0857501
Disease: Acute schizophrenia
Acute schizophrenia 		0.300 Biomarker disease PSYGENET Roles of interferon-gamma and its target genes in schizophrenia: Proteomics-based reverse genetics from mouse to human. 22623148 2012
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 Biomarker group BEFREE However, a few proteins appear to be upregulated in SCC and AC: triosephosphate isomerase, protein disulfide isomerase and phosphoglycerate mutase (phosphoglycerate kinase 1). 19955839 2009
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.310 AlteredExpression disease BEFREE Antioxidant enzyme AOE372, ATP synthase subunit d (ATP5D), beta1,4-galactosyltransferase, cytosolic inorganic pyrophosphatase, glucose-regulated M(r) 58,000 protein, glutathione-S-transferase M4, prolyl 4-hydroxylase beta subunit, triosephosphate isomerase, and ubiquitin thiolesterase (UCHL1) were identified as being significantly overexpressed in lung adenocarcinomas. 12114434 2002
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.310 Biomarker disease CTD_human c-Myc targeted regulators of cell metabolism in a transgenic mouse model of papillary lung adenocarcinoma. 27602772 2016
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia 		0.010 Biomarker disease BEFREE Primary skeletal muscle myoblasts and Epstein-Barr virus (EBV)-transformed lymphoblastoid cell lines generated from homozygous TPI-deficient patients were cultured in the presence of exogenous enzyme or cocultured with human K562 erythroleukemia cells as an exogenous source of TPI. 10556207 1999
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 Biomarker disease BEFREE These results provide compelling rationale for clinical testing of alisertib and/or other AURKA inhibitors for potential combination use with TPI 287 against glioblastoma and other CNS neoplasms. 29396807 2018
CUI: C4684880
Disease: Advanced Bile Duct Carcinoma
Advanced Bile Duct Carcinoma 		0.010 Biomarker disease BEFREE Trifluridine/tipiracil (FTD/TPI) has activity in both fluoropyrimidine-sensitive and -resistant tumors, which led us to conduct a single arm phase II trial to evaluate the safety and efficacy of FTD/TPI for patients previously treated for advanced BTC. 31826977 2019
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.300 Biomarker disease CTD_human Proteomic identification of HNE-bound proteins in early Alzheimer disease: Insights into the role of lipid peroxidation in the progression of AD. 19374891 2009
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.300 Biomarker disease CTD_human Proteomic identification of HNE-bound proteins in early Alzheimer disease: Insights into the role of lipid peroxidation in the progression of AD. 19374891 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.320 Biomarker disease BEFREE One of the most strongly nitrotyrosinated proteins in AD is the triosephosphate isomerase (TPI) enzyme which regulates glycolytic flow, and its efficiency decreased when it is nitrotyrosinated. 24614897 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.320 Biomarker disease CTD_human Proteomic identification of HNE-bound proteins in early Alzheimer disease: Insights into the role of lipid peroxidation in the progression of AD. 19374891 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.320 Biomarker disease BEFREE To assess the safety, tolerability, and pharmacodynamics of the microtubule stabilizer TPI-287 (abeotaxane) in Alzheimer disease (AD) or the 4-repeat tauopathies (4RT) progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS). 31710340 2019
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset 		0.300 Biomarker disease CTD_human Proteomic identification of HNE-bound proteins in early Alzheimer disease: Insights into the role of lipid peroxidation in the progression of AD. 19374891 2009
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.480 Biomarker disease BEFREE Clinical TPI deficiency is a rare autosomal recessive multi-system disorder characterised by non-spherocytic haemolytic anaemia, recurrent infections, cardiomyopathy, severe and fatal neuromuscular dysfunctions. 9850739 1998
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.480 Biomarker disease BEFREE Bone marrow transplantation corrects haemolytic anaemia in a novel ENU mutagenesis mouse model of TPI deficiency. 29720471 2018
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.480 Biomarker disease BEFREE Triosephosphate isomerase (TPI) deficiency is a poorly understood disease characterized by hemolytic anemia, cardiomyopathy, neurologic dysfunction, and early death. 27031109 2016
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.480 Biomarker disease BEFREE We report the clinical, haematological and molecular characteristics of two triose phosphate isomerase deficient patients affected by haemolytic anaemia and neuromuscular impairment. 20374271 2010
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.480 GeneticVariation disease BEFREE The disease is caused exclusively by specific missense mutations affecting the TPI protein and clinically features hemolytic anemia, adult-onset neurological impairment, degeneration, and reduced longevity. 18458110 2008
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.480 Biomarker disease CTD_human Triose-phosphate isomerase (TPI; D-glyceraldehyde-3-phosphate ketol-isomerase, EC 5.3.1.1) deficiency is a recessive disorder that results in hemolytic anemia and neuromuscular dysfunction. 2876430 1986