Source: ALL
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
CUI: C1838854
Disease: DEAFNESS, AMINOGLYCOSIDE-INDUCED
DEAFNESS, AMINOGLYCOSIDE-INDUCED 		0.500 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1838854
Disease: DEAFNESS, AMINOGLYCOSIDE-INDUCED
DEAFNESS, AMINOGLYCOSIDE-INDUCED 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C1838854
Disease: DEAFNESS, AMINOGLYCOSIDE-INDUCED
DEAFNESS, AMINOGLYCOSIDE-INDUCED 		0.500 Biomarker disease CTD_human
CUI: C1857332
Disease: Deafness, Sensorineural, Autosomal-Mitochondrial Type
Deafness, Sensorineural, Autosomal-Mitochondrial Type 		0.300 GermlineModifyingMutation phenotype ORPHANET Nuclear factors: roles related to mitochondrial deafness. 23510774 2013
CUI: C3151898
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		0.300 GermlineCausalMutation disease ORPHANET Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease. 21931168 2011
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.220 GeneticVariation group BEFREE Mutations in TRMU affect modification at position 2 and cause liver disease. 28732077 2017
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.220 Biomarker group BEFREE We suggest that TRMU deficiency should be considered in infants with acute liver disease. 21153446 2011
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.220 Biomarker group MGD
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.110 GeneticVariation disease BEFREE Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations. 21153446 2011
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		0.110 Biomarker disease HPO
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Reversible infantile mitochondrial diseases. 25407320 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations? 25665837 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Reversible infantile mitochondrial diseases. 25407320 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations? 25665837 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR Reversible infantile mitochondrial diseases. 25407320 2015