Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 516
Gene Symbol: ATP5MC1
ATP5MC1
0.030 GeneticVariation disease BEFREE Variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), caused by CLN6 mutation, and juvenile neuronal ceroid lipofuscinosis (JNCL), caused by CLN3 mutation, share clinical and pathological features, including lysosomal accumulation of mitochondrial ATP synthase subunit c, but the unrelated CLN6 and CLN3 genes may initiate disease via similar or distinct cellular processes. 21359198 2011
Entrez Id: 516
Gene Symbol: ATP5MC1
ATP5MC1
0.030 Biomarker disease BEFREE Abnormal degradative pathway of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid-lipofuscinosis (Batten disease). 7668341 1995
Entrez Id: 516
Gene Symbol: ATP5MC1
ATP5MC1
0.030 Biomarker disease BEFREE Specific delay of degradation of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid lipofuscinosis (Batten disease). 7830067 1995