Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203990
rs118203990
Entrez Id: 55687
Gene Symbol: TRMU
TRMU
CUI: C3278664
Disease:
LIVER FAILURE, INFANTILE, TRANSIENT
0.800 GeneticVariation UNIPROT Acute infantile liver failure due to mutations in the TRMU gene. 19732863 2009
dbSNP: rs118203991
rs118203991
Entrez Id: 55687
Gene Symbol: TRMU
TRMU
CUI: C3278664
Disease:
LIVER FAILURE, INFANTILE, TRANSIENT
0.800 GeneticVariation UNIPROT Acute infantile liver failure due to mutations in the TRMU gene. 19732863 2009
dbSNP: rs118203990
rs118203990
Entrez Id: 55687
Gene Symbol: TRMU
TRMU
CUI: C3278664
Disease:
LIVER FAILURE, INFANTILE, TRANSIENT
C 0.800 CausalMutation CLINVAR
dbSNP: rs118203991
rs118203991
Entrez Id: 55687
Gene Symbol: TRMU
TRMU
CUI: C3278664
Disease:
LIVER FAILURE, INFANTILE, TRANSIENT
A 0.800 CausalMutation CLINVAR
dbSNP: rs387907022
rs387907022
Entrez Id: 55687
Gene Symbol: TRMU
TRMU
CUI: C3278664
Disease:
LIVER FAILURE, INFANTILE, TRANSIENT
A 0.700 GeneticVariation CLINVAR Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations? 25665837 2015
dbSNP: rs387907022
rs387907022
Entrez Id: 55687
Gene Symbol: TRMU
TRMU
CUI: C3278664
Disease:
LIVER FAILURE, INFANTILE, TRANSIENT
A 0.700 GeneticVariation CLINVAR Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases. 23625533 2013
dbSNP: rs387907022
rs387907022
Entrez Id: 55687
Gene Symbol: TRMU
TRMU
CUI: C3278664
Disease:
LIVER FAILURE, INFANTILE, TRANSIENT
A 0.700 GeneticVariation CLINVAR Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease. 21931168 2011
dbSNP: rs387907022
rs387907022
Entrez Id: 55687
Gene Symbol: TRMU
TRMU
CUI: C3278664
Disease:
LIVER FAILURE, INFANTILE, TRANSIENT
A 0.700 GeneticVariation CLINVAR Acute infantile liver failure due to mutations in the TRMU gene. 19732863 2009
dbSNP: rs118203992
rs118203992
Entrez Id: 55687
Gene Symbol: TRMU
TRMU
CUI: C3278664
Disease:
LIVER FAILURE, INFANTILE, TRANSIENT
A 0.700 CausalMutation CLINVAR
dbSNP: rs1490906786
rs1490906786
Entrez Id: 55687
Gene Symbol: TRMU
TRMU
CUI: C3278664
Disease:
LIVER FAILURE, INFANTILE, TRANSIENT
G 0.700 GeneticVariation CLINVAR
dbSNP: rs387907022
rs387907022
Entrez Id: 55687
Gene Symbol: TRMU
TRMU
CUI: C3278664
Disease:
LIVER FAILURE, INFANTILE, TRANSIENT
A 0.700 CausalMutation CLINVAR
dbSNP: rs766314948
rs766314948
Entrez Id: 55687
Gene Symbol: TRMU
TRMU
CUI: C3278664
Disease:
LIVER FAILURE, INFANTILE, TRANSIENT
C 0.700 GeneticVariation CLINVAR
dbSNP: rs863224242
rs863224242
Entrez Id: 55687
Gene Symbol: TRMU
TRMU
CUI: C3278664
Disease:
LIVER FAILURE, INFANTILE, TRANSIENT
TC 0.700 CausalMutation CLINVAR