Disease: Liver diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.020 GeneticVariation group BEFREE QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation. 29618761 2018
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.020 GeneticVariation group BEFREE Here, we identify QIL1 null alleles in two siblings displaying multiple clinical symptoms of early-onset fatal mitochondrial encephalopathy with liver disease, including defects in respiratory chain function in patient muscle. 27623147 2016