rs121912438, SOD1

N. diseases: 58
Disease: SCLEROSING CHOLANGITIS, NEONATAL ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SCLEROSING CHOLANGITIS, NEONATAL
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
0.010 GeneticVariation BEFREE Here we investigated the energy metabolism in NSC-34(G93A) cells and in particular the effect of the mutated SOD1(G93A) protein on the mitochondrial respiratory capacity (complexes I-IV) by high resolution respirometry (HRR) and cytofluorimetry. 31680811 2019