| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.810 | GeneticVariation | UNIPROT | Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. | 26073778 | 2015 |
||||
|
C | 0.810 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.800 | GeneticVariation | UNIPROT | |||||||
|
G | 0.700 | CausalMutation | CLINVAR | Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS. | 28576691 | 2017 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS. | 28576691 | 2017 |
|||
|
0.700 | GeneticVariation | UNIPROT | Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. | 26073778 | 2015 |
||||
|
A | 0.700 | CausalMutation | CLINVAR | NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. | 26286438 | 2015 |
|||
|
0.700 | GeneticVariation | UNIPROT | |||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
GA | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR |