Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.970 GeneticVariation disease UNIPROT The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 17564970 2007
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.970 CausalMutation disease CLINVAR The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 17564970 2007
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.970 Biomarker disease CTD_human
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.970 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.010 Biomarker disease BEFREE Considering the similar phenotypes of CLN5 and CLN7 patients, our data suggest that depletion of CLN5 may play an important part in the pathogenesis of CLN7 disease. 29514215 2018
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.010 GeneticVariation disease BEFREE Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8. 11589000 2001