Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3278664
Disease: LIVER FAILURE, INFANTILE, TRANSIENT
LIVER FAILURE, INFANTILE, TRANSIENT
0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3278664
Disease: LIVER FAILURE, INFANTILE, TRANSIENT
LIVER FAILURE, INFANTILE, TRANSIENT
0.700 GeneticVariation disease CLINVAR Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations? 25665837 2015
CUI: C3278664
Disease: LIVER FAILURE, INFANTILE, TRANSIENT
LIVER FAILURE, INFANTILE, TRANSIENT
0.700 GeneticVariation disease CLINVAR Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases. 23625533 2013
CUI: C3278664
Disease: LIVER FAILURE, INFANTILE, TRANSIENT
LIVER FAILURE, INFANTILE, TRANSIENT
0.700 GeneticVariation disease CLINVAR Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease. 21931168 2011
CUI: C3278664
Disease: LIVER FAILURE, INFANTILE, TRANSIENT
LIVER FAILURE, INFANTILE, TRANSIENT
0.700 Biomarker disease GENOMICS_ENGLAND Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations. 21153446 2011
CUI: C3278664
Disease: LIVER FAILURE, INFANTILE, TRANSIENT
LIVER FAILURE, INFANTILE, TRANSIENT
0.700 GeneticVariation disease UNIPROT Acute infantile liver failure due to mutations in the TRMU gene. 19732863 2009
CUI: C3278664
Disease: LIVER FAILURE, INFANTILE, TRANSIENT
LIVER FAILURE, INFANTILE, TRANSIENT
0.700 GermlineCausalMutation disease ORPHANET Acute infantile liver failure due to mutations in the TRMU gene. 19732863 2009
CUI: C3278664
Disease: LIVER FAILURE, INFANTILE, TRANSIENT
LIVER FAILURE, INFANTILE, TRANSIENT
0.700 GeneticVariation disease CLINVAR Acute infantile liver failure due to mutations in the TRMU gene. 19732863 2009
CUI: C3278664
Disease: LIVER FAILURE, INFANTILE, TRANSIENT
LIVER FAILURE, INFANTILE, TRANSIENT
0.700 CausalMutation disease CLINVAR
CUI: C3278664
Disease: LIVER FAILURE, INFANTILE, TRANSIENT
LIVER FAILURE, INFANTILE, TRANSIENT
0.700 Biomarker disease CTD_human