Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.600 Biomarker disease CTD_human Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. 7637805 1995
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.600 Biomarker disease MGD The role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis. 22031903 2011
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.600 Biomarker disease MGD Patients with mutations in CLN1 primarily manifest with infantile NCL (INCL or Haltia-Santavuori disease), which is second only to congenital NCL for its age of onset and devastating progression. 25205113 2015
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.600 Biomarker disease CTD_human Decreased sensitivity of palmitoyl protein thioesterase 1-deficient neurons to chemical anoxia. 27722792 2017
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.600 Biomarker disease BEFREE Infantile neuronal ceroid lipofuscinosis (INCL) is a childhood neurodegenerative disease caused by the selective death of cortical neurons and retinal degeneration, as the result of a palmitoyl protein thioesterase 1 (PPT1) deficiency. 11020216 2000
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.600 Biomarker disease CTD_human Disruption of adaptive energy metabolism and elevated ribosomal p-S6K1 levels contribute to INCL pathogenesis: partial rescue by resveratrol. 21224254 2011
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.600 Biomarker disease BEFREE Palmitoyl-protein thioesterase-1 (PPT1) deficiency causes infantile neuronal ceroid lipofuscinosis (INCL), a devastating childhood neurodegenerative storage disorder. 18948101 2008
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.600 Biomarker disease MGD Infantile Neuronal Ceroid Lipofuscinosis (INCL) results from mutations in the palmitoyl protein thioesterase (PPT1, CLN1) gene and is characterized by dramatic death of cortical neurons. 15649713 2005
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A 		0.300 Biomarker disease CTD_human Disruption of adaptive energy metabolism and elevated ribosomal p-S6K1 levels contribute to INCL pathogenesis: partial rescue by resveratrol. 21224254 2011
Entrez Id: 6855
Gene Symbol: SYP
SYP 		0.300 Biomarker disease CTD_human Disruption of adaptive energy metabolism and elevated ribosomal p-S6K1 levels contribute to INCL pathogenesis: partial rescue by resveratrol. 21224254 2011
Entrez Id: 51024
Gene Symbol: FIS1
FIS1 		0.300 Biomarker disease CTD_human Disruption of adaptive energy metabolism and elevated ribosomal p-S6K1 levels contribute to INCL pathogenesis: partial rescue by resveratrol. 21224254 2011
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		0.300 Biomarker disease CTD_human Disruption of adaptive energy metabolism and elevated ribosomal p-S6K1 levels contribute to INCL pathogenesis: partial rescue by resveratrol. 21224254 2011
Entrez Id: 7019
Gene Symbol: TFAM
TFAM 		0.300 Biomarker disease CTD_human Disruption of adaptive energy metabolism and elevated ribosomal p-S6K1 levels contribute to INCL pathogenesis: partial rescue by resveratrol. 21224254 2011
Entrez Id: 142
Gene Symbol: PARP1
PARP1 		0.300 Biomarker disease CTD_human Disruption of adaptive energy metabolism and elevated ribosomal p-S6K1 levels contribute to INCL pathogenesis: partial rescue by resveratrol. 21224254 2011
Entrez Id: 23411
Gene Symbol: SIRT1
SIRT1 		0.300 Biomarker disease CTD_human Disruption of adaptive energy metabolism and elevated ribosomal p-S6K1 levels contribute to INCL pathogenesis: partial rescue by resveratrol. 21224254 2011
Entrez Id: 6198
Gene Symbol: RPS6KB1
RPS6KB1 		0.300 Biomarker disease CTD_human Disruption of adaptive energy metabolism and elevated ribosomal p-S6K1 levels contribute to INCL pathogenesis: partial rescue by resveratrol. 21224254 2011
Entrez Id: 55669
Gene Symbol: MFN1
MFN1 		0.300 Biomarker disease CTD_human Disruption of adaptive energy metabolism and elevated ribosomal p-S6K1 levels contribute to INCL pathogenesis: partial rescue by resveratrol. 21224254 2011
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.010 Biomarker disease BEFREE We show that amphiphile-mediated depalmitoylation (AMD) can effectively cleave S-palmitoyl groups from the native GTPase HRas and successfully depalmitoylate mislocalized proteins in an infantile neuronal ceroid lipofuscinosis (INCL) disease model. 30516377 2018
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3 		0.010 AlteredExpression disease BEFREE Infantile neuronal ceroid lipofuscinosis (INCL; NCL1, Haltia-Santavuori disease) is caused by mutations in the CLN1/PPT gene which are associated with an early onset INCL phenotype. 22387303 2012