Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Liver Failure
|
0.710 | GeneticVariation | BEFREE | Through clinical exome sequencing, we identified a homozygous missense variant (c.533C>T; p.Pro178Leu) in mitochondrial transcription factor A (TFAM) segregating in a consanguineous kindred of Colombian-Basque descent in which two siblings presented with IUGR, elevated transaminases, conjugated hyperbilirubinemia and hypoglycemia with progression to liver failure and death in early infancy. | 27448789 | 2016 | |||||
Conjugated hyperbilirubinemia
|
0.710 | GeneticVariation | BEFREE | Through clinical exome sequencing, we identified a homozygous missense variant (c.533C>T; p.Pro178Leu) in mitochondrial transcription factor A (TFAM) segregating in a consanguineous kindred of Colombian-Basque descent in which two siblings presented with IUGR, elevated transaminases, conjugated hyperbilirubinemia and hypoglycemia with progression to liver failure and death in early infancy. | 27448789 | 2016 | |||||
Conjugated hyperbilirubinemia
|
0.710 | GeneticVariation | CLINVAR | ||||||||
Liver Failure
|
0.710 | GeneticVariation | CLINVAR | ||||||||
Deoxyguanosine Kinase Deficiency
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Liver Cirrhosis
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Fetus Small for Gestational Age
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Ascites
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Hypertransaminasaemia
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Hypoalbuminemia
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Blood Coagulation Disorders
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Fetal Growth Retardation
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Abnormal mitochondrial morphology
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Depletion of mitochondrial DNA
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Cholestasis
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Pediatric failure to thrive
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Hypoglycemia
|
0.010 | GeneticVariation | BEFREE | Through clinical exome sequencing, we identified a homozygous missense variant (c.533C>T; p.Pro178Leu) in mitochondrial transcription factor A (TFAM) segregating in a consanguineous kindred of Colombian-Basque descent in which two siblings presented with IUGR, elevated transaminases, conjugated hyperbilirubinemia and hypoglycemia with progression to liver failure and death in early infancy. | 27448789 | 2016 |