Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.220 GeneticVariation disease BEFREE We present clinical and diagnostic investigations in six children with variant late infantile neuronal ceroid lipofuscinosis and mutations in CLN1. 19302939 2009
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.220 GeneticVariation disease BEFREE Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis. 16759889 2006
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.220 Biomarker disease MGD Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. 11717424 2001
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.220 Biomarker disease MGD The role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis. 22031903 2011
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.220 Biomarker disease MGD The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy. 25205113 2015
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.220 Biomarker disease MGD Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons. 15649713 2005