Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease CTD_human
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 GeneticVariation disease BEFREE JNCL is caused by CLN3 gene mutations that negatively modulate cell growth/apoptosis. 18317235 2008
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 GeneticVariation disease BEFREE Batten disease is an inherited disorder characterized by early onset neurodegeneration due to the mutation of the CLN3 gene. 22692827 2012
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 GeneticVariation disease BEFREE Juvenile Batten disease (juvenile neuronal ceroid lipofuscinosis, JNCL) is a devastating neurodegenerative disease caused by mutations in CLN3, a protein of undefined function. 24792215 2014
Entrez Id: 4691
Gene Symbol: NCL
NCL
0.030 Biomarker disease BEFREE CLN3 disease (Spielmeyer-Vogt-Sjogren-Batten disease, previously known as classic juvenile neuronal ceroid lipofuscinosis, NCL) is a pediatric-onset progressive neurodegenerative disease characterized by progressive vision loss, seizures, loss of cognitive and motor function, and early death. 27766444 2017
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.300 GeneticVariation disease BEFREE Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients. 30541466 2018
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 GeneticVariation disease BEFREE Batten disease (juvenile-onset neuronal ceroid lipofuscinosis; JNCL) is an autosomal recessive neurodegenerative disorder, characterized by the cytosomal accumulation of autofluorescent proteolipopigments in neurons and other cell types. 7668357 1995
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Batten disease (juvenile-onset neuronal ceroid lipofuscinosis [JNCL]) is an autosomal recessive condition characterized by accumulation of lipopigments (lipofuscin and ceroid) in neurons and other cell types. 9311735 1997
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Juvenile neuronal ceroid lipofuscinosis (Batten disease) is a progressive neurologic disorder which results from mutations in the CLN3 gene, which normally produces a 48-kDa polypeptide of unknown function. 10191116 1999
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL), Batten disease, is an autosomal recessive lysosomal storage disease associated with mutations in CLN3. 10749980 2000
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.300 Biomarker disease MGD PPT1 deficiency in humans causes a neurodegenerative disorder, infantile neuronal ceroid lipofuscinosis (also known as infantile Batten disease). 11717424 2001
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten disease, is a pediatric neurodegenerative disease characterized by vision loss, seizure activity, cognitive decline, and premature death. 12366726 2002
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL) is an autosomal recessively inherited lysosomal storage disease involving a mutation in the CLN3 gene. 14622109 2003
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease MGD Juvenile neuronal ceroid lipofuscinosis (JNCL or Batten Disease) is one of the most common progressive neurodegenerative disorders of childhood, resulting from autosomal recessive inheritance of mutations in the CLN3 gene. 15326100 2004
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Juvenile neuronal ceroid-lipofuscinosis (JNCL) or Batten/Spielmeyer-Vogt-Sjogren disease (OMIM #204200) is one of a group of nine clinically related inherited neurodegenerative disorders (CLN1-9). 16515873 2006
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Juvenile neuronal ceroid lipofuscinosis (Batten disease) is a neurodegenerative disorder caused by defective function of the lysosomal membrane glycoprotein CLN3. 17868323 2007
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update. 17896996 2007
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE btn1, the Schizosaccharomyces pombe orthologue of the human Batten-disease gene CLN3, is involved in vacuole pH homeostasis. 18697832 2008
Entrez Id: 696
Gene Symbol: BTN1A1
BTN1A1
0.100 Biomarker disease BEFREE btn1, the Schizosaccharomyces pombe orthologue of the human Batten-disease gene CLN3, is involved in vacuole pH homeostasis. 18697832 2008
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE CLN3 is therefore essential for trafficking along the route needed for delivery of lysosomal enzymes, and its loss thereby contributes to and may explain the lysosomal dysfunction underlying Batten disease. 18817525 2008
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE BTN1, the Saccharomyces cerevisiae homolog to the human Batten disease gene, is involved in phospholipid distribution. 22107873 2012
Entrez Id: 696
Gene Symbol: BTN1A1
BTN1A1
0.100 Biomarker disease BEFREE BTN1, the Saccharomyces cerevisiae homolog to the human Batten disease gene, is involved in phospholipid distribution. 22107873 2012
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL) is characterized by severe visual impairment with onset around age 4-8 years, and a developmental course that includes blindness, epilepsy, speech problems, dementia, motor coordination problems, and emotional reactions. 23470553 2013
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL; Batten disease) is a rare, inherited, fatal lysosomal storage childhood disorder. 23628560 2013