TPP1, tripeptidyl peptidase 1, 1200

N. diseases: 151; N. variants: 73
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		0.010 AlteredExpression disease BEFREE All probands had deficiency of tripeptidyl-peptidase I (TPP1) activity and, at the EM level, curvilinear profiles. 11073228 2000
CUI: C4021781
Disease: Abnormal nervous system electrophysiology
Abnormal nervous system electrophysiology 		0.100 Biomarker phenotype HPO
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia 		0.300 Biomarker disease CTD_human Increased brain lysosomal pepstatin-insensitive proteinase activity in patients with neurodegenerative diseases. 10320038 1999
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 Biomarker disease BEFREE A cDNA library prepared from a human glioblastoma cell line has been introduced into a budding yeast strain that lacks CLN1 and CLN2 and is conditionally deficient for CLN3 function. 1827756 1991
CUI: C0022797
Disease: Adult Neuronal Ceroid Lipofuscinosis
Adult Neuronal Ceroid Lipofuscinosis 		0.500 Biomarker disease CTD_human Increased brain lysosomal pepstatin-insensitive proteinase activity in patients with neurodegenerative diseases. 10320038 1999
CUI: C0022797
Disease: Adult Neuronal Ceroid Lipofuscinosis
Adult Neuronal Ceroid Lipofuscinosis 		0.500 Biomarker disease MGD A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration. 15483130 2004
CUI: C0022797
Disease: Adult Neuronal Ceroid Lipofuscinosis
Adult Neuronal Ceroid Lipofuscinosis 		0.500 Biomarker disease MGD Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis. 18343701 2008
CUI: C0022797
Disease: Adult Neuronal Ceroid Lipofuscinosis
Adult Neuronal Ceroid Lipofuscinosis 		0.500 Biomarker disease CTD_human Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis. 11589009 2001
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.300 Biomarker disease CTD_human Increased brain lysosomal pepstatin-insensitive proteinase activity in patients with neurodegenerative diseases. 10320038 1999
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.300 Biomarker disease CTD_human Increased brain lysosomal pepstatin-insensitive proteinase activity in patients with neurodegenerative diseases. 10320038 1999
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.300 Biomarker disease CTD_human Increased brain lysosomal pepstatin-insensitive proteinase activity in patients with neurodegenerative diseases. 10320038 1999
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset 		0.300 Biomarker disease CTD_human Increased brain lysosomal pepstatin-insensitive proteinase activity in patients with neurodegenerative diseases. 10320038 1999
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.010 GeneticVariation disease BEFREE ACD/TPP1 is thus a newly identified telomere-related gene in which mutations cause aplastic anemia and related BMF disorders. 25205116 2014
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 AlteredExpression phenotype BEFREE SCAR7 patients showed ataxia and low activity of tripeptidyl-peptidase 1, but no ophthalmologic abnormalities or epilepsy. 23418007 2013
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		0.100 Biomarker phenotype HPO
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		0.300 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 Biomarker disease BEFREE These results suggest that TPP1 may be a promising intravesical agent for the treatment of bladder cancer. 31718944 2020
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		0.010 GeneticVariation disease BEFREE Infants with mutations in both CLN2 alleles develop normally but in the late-infantile/early-childhood period undergo progressive neurological decline accompanied by pronounced brain atrophy. 24938720 2014
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 Biomarker phenotype HPO
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 Biomarker disease BEFREE These results suggest that TPP1 may be a promising intravesical agent for the treatment of bladder cancer. 31718944 2020
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 Biomarker disease BEFREE Our results suggest that inhibiting TPP1-mediated telomerase recruitment by expressing the TPP1-OB domain is a potential novel strategy for telomere-targeted lung cancer therapy. 31016380 2019
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 Biomarker disease BEFREE We showed that SESN2 and LC3II expressions were elevated, whereas SIRT1 and TPP1 expressions were decreased in the Aβ<sub>1-42</sub> -exposed human neuroblastoma cells (SH-SY5Y). 31846093 2020
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.010 AlteredExpression phenotype BEFREE SCAR7 patients showed ataxia and low activity of tripeptidyl-peptidase 1, but no ophthalmologic abnormalities or epilepsy. 23418007 2013