TPP2, tripeptidyl peptidase 2, 7174

N. diseases: 30; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272126
Disease: Evans syndrome
Evans syndrome 		0.310 GeneticVariation disease BEFREE Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency. 25414442 2015
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0014038
Disease: Encephalitis
Encephalitis 		0.010 GeneticVariation disease BEFREE Furthermore, a missense mutation in the TPP2 gene is associated with a sterile brain inflammation condition mimicking multiple sclerosis. 31108122 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 GeneticVariation disease BEFREE Furthermore, a missense mutation in the TPP2 gene is associated with a sterile brain inflammation condition mimicking multiple sclerosis. 31108122 2019
CUI: C0272126
Disease: Evans syndrome
Evans syndrome 		0.310 Biomarker disease GENOMICS_ENGLAND Dual proteolytic pathways govern glycolysis and immune competence. 25525876 2014
CUI: C0002880
Disease: Autoimmune hemolytic anemia
Autoimmune hemolytic anemia 		0.100 Biomarker disease HPO
CUI: C0018989
Disease: Hemiparesis
Hemiparesis 		0.100 Biomarker phenotype HPO
CUI: C0019158
Disease: Hepatitis
Hepatitis 		0.100 Biomarker group HPO
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.100 Biomarker disease HPO
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		0.100 Biomarker disease HPO
CUI: C0035243
Disease: Respiratory Tract Infections
Respiratory Tract Infections 		0.100 Biomarker group HPO
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.100 Biomarker phenotype HPO
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.100 Biomarker group HPO
CUI: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura 		0.100 Biomarker disease HPO
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		0.100 Biomarker phenotype HPO
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		0.100 Biomarker disease HPO
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		0.100 Biomarker phenotype HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE Our data indicated that TPPII connects signaling by cytosolic/mitochondrial and nuclear PIKK-dependent pathways and that TPPII can be targeted for inhibition of tumor therapy resistance. 17671184 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE IHC showed that TPP2 expression in primary OSCCs was significantly (P < 0.001) greater than that in the normal oral counterparts, and the TPP2-positive cases were significantly (P < 0.05) correlated with tumor size. 22986808 2013
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.010 Biomarker group BEFREE TPP2 deficiency is the first primary immunodeficiency linking premature immunosenescence to severe autoimmunity. 25414442 2015
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 Biomarker disease BEFREE Tripeptidyl peptidase II in human oral squamous cell carcinoma. 22986808 2013
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 Biomarker disease BEFREE In this study, recombinant adenoviral vectors harboring the hepatitis B core antigen (HBcAg) and the TPPII gene were constructed (Adv-HBcAg and Adv-HBcAg-TPPII), and H-2Kd HBV-transgenic BALB/c mice and HLA-A2 C57BL/6 mice were immunized with these vectors, respectively. 28214886 2017
CUI: C0022340
Disease: Late-Infantile Neuronal Ceroid Lipfuscinosis
Late-Infantile Neuronal Ceroid Lipfuscinosis 		0.010 Biomarker disease BEFREE Tripeptidyl aminopeptidase I (TPPI) is a crucial lysosomal enzyme that is deficient in the fatal neurodegenerative disorder called classic late-infantile neuronal ceroid lipofuscinosis (LINCL). 20689811 2010
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		0.010 Biomarker group BEFREE TPP2 deficiency is the first primary immunodeficiency linking premature immunosenescence to severe autoimmunity. 25414442 2015