Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.800 | CausalMutation | CLINVAR | Fainting Fanconi syndrome clarified by proxy: a case report. | 28693455 | 2017 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene. | 28458902 | 2017 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype. | 27245055 | 2016 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | Two patients with HNF4A-related congenital hyperinsulinism and renal tubular dysfunction: A clinical variation which includes transient hepatic dysfunction. | 25819479 | 2015 |
|||
|
0.800 | GeneticVariation | UNIPROT | The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. | 24285859 | 2014 |
||||
|
T | 0.800 | CausalMutation | CLINVAR | The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. | 24285859 | 2014 |
|||
|
0.800 | GeneticVariation | UNIPROT | Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. | 22802087 | 2012 |
||||
|
T | 0.800 | CausalMutation | CLINVAR | Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. | 20164212 | 2010 |