Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Ceroid lipofuscinosis, neuronal 1, infantile
0.600 GeneticVariation disease BEFREE Deficiency in this enzyme leads to infantile neuronal ceroid lipofuscinosis (INCL, Infantile Batten disease, CLN1). 30204428 2018
Ceroid lipofuscinosis, neuronal 1, infantile
0.600 Biomarker disease CTD_human Decreased sensitivity of palmitoyl protein thioesterase 1-deficient neurons to chemical anoxia. 27722792 2017
Ceroid lipofuscinosis, neuronal 1, infantile
0.600 GeneticVariation disease BEFREE Infantile neuronal ceroid lipofuscinosis (INCL) is an autosomal recessive disorder starting in infancy as early as 12-month-old, caused by PPT1 (palmitoyl-protein thioesterase 1) mutations, and characterized by progressive psychomotor deterioration, brain atrophy, myoclonic jerk and visual impairment. 26846731 2016
Ceroid lipofuscinosis, neuronal 1, infantile
0.600 GeneticVariation disease BEFREE 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
Ceroid lipofuscinosis, neuronal 1, infantile
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
Ceroid lipofuscinosis, neuronal 1, infantile
0.600 GeneticVariation disease BEFREE Patients with mutations in CLN1, which encodes palmitoyl-protein thioesterase 1 (PPT1), primarily manifest with infantile neuronal ceroid lipofuscinosis (Haltia-Santavuori disease). 23857568 2013
Ceroid lipofuscinosis, neuronal 1, infantile
0.600 GeneticVariation 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
Ceroid lipofuscinosis, neuronal 1, infantile
0.600 Biomarker disease MGD The role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis. 22031903 2011
Ceroid lipofuscinosis, neuronal 1, infantile
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
Ceroid lipofuscinosis, neuronal 1, infantile
0.600 Biomarker disease BEFREE Infantile neuronal ceroid lipofuscinosis (INCL) is a fatal neurodegenerative disease caused by a deficiency in the lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1). 19733542 2009
Ceroid lipofuscinosis, neuronal 1, infantile
0.600 Biomarker disease BEFREE Infantile neuronal ceroid lipofuscinosis (INCL) is caused by palmitoyl protein thioesterase-1 (PPT1) deficiency. 18704195 2008
Ceroid lipofuscinosis, neuronal 1, infantile
0.600 Biomarker disease BEFREE Infantile neuronal ceroid lipofuscinosis (INCL) is a severe neurodegenerative disease caused by deficiency of palmitoyl protein thioesterase 1 (PPT1). 18245779 2008
Ceroid lipofuscinosis, neuronal 1, infantile
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
Ceroid lipofuscinosis, neuronal 1, infantile
0.600 Biomarker disease BEFREE Infantile neuronal ceroid lipofuscinosis (INCL) has the earliest onset ( approximately 1.5 years of age) and is caused by a deficiency in the lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1). 16364693 2006
Ceroid lipofuscinosis, neuronal 1, infantile
0.600 GeneticVariation disease BEFREE Infantile neuronal ceroid lipofuscinosis (INCL) is a severe neurodegenerative disorder of the childhood caused by mutations in the gene encoding palmitoyl protein thioesterase 1 (PPT1). 16542649 2006
Ceroid lipofuscinosis, neuronal 1, infantile
0.600 GeneticVariation disease BEFREE Infantile neuronal ceroid lipofuscinosis (INCL), a neurodegenerative storage disorder of childhood, is caused by mutations in the palmitoyl-protein thioesterase-1 (PPT1) gene. 16644870 2006
Ceroid lipofuscinosis, neuronal 1, infantile
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
Ceroid lipofuscinosis, neuronal 1, infantile
0.600 Biomarker disease BEFREE Infantile neuronal ceroid lipofuscinosis (INCL) is a childhood neurodegenerative disease caused by the selective death of cortical and retinal neurons as the result of an inherited palmitoyl-protein thioesterase 1 (PPT1) deficiency. 11589008 2001
Ceroid lipofuscinosis, neuronal 1, infantile
0.600 GeneticVariation disease BEFREE Infantile neuronal ceroid lipofuscinosis (INCL) is a severe neurodegenerative storage disorder in children caused by mutations in the palmitoyl protein thioesterase gene (PPT1). 11520175 2001
Ceroid lipofuscinosis, neuronal 1, infantile
0.600 GeneticVariation disease BEFREE Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1). 10679943 2000
Ceroid lipofuscinosis, neuronal 1, infantile
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
Ceroid lipofuscinosis, neuronal 1, infantile
0.600 GeneticVariation disease BEFREE First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis. 10416973 1999
Ceroid lipofuscinosis, neuronal 1, infantile
0.600 GeneticVariation disease BEFREE Mutations in the palmitoyl-protein thioesterase (PPT) gene cause infantile neuronal ceroid lipofuscinosis (INCL), the clinical manifestations of which include the early loss of vision followed by deterioration of brain functions. 10231585 1999
Ceroid lipofuscinosis, neuronal 1, infantile
0.600 GeneticVariation disease BEFREE Mutations in the gene encoding a lysosomal enzyme, palmitoyl protein thioesterase (PPT), cause infantile NCL (locus CLN1 on chromosome 1p32) or Haltia-Santavuori disease. 10446748 1999
Ceroid lipofuscinosis, neuronal 1, infantile
0.600 GeneticVariation disease BEFREE Infantile neuronal ceroid lipofuscinosis (INCL, CLN1) is a neurodegenerative disorder in which the biochemical defect is unknown. 7789974 1995