| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease. | 28505279 | 2017 |
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|
0.800 | GeneticVariation | UNIPROT | Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease. | 28505279 | 2017 |
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|
0.800 | GeneticVariation | UNIPROT | Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease. | 28505279 | 2017 |
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|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.020 | GeneticVariation | BEFREE | Fifty-two patients with active CS (38 Cushing's disease and 14 with cortisol-secreting adrenal adenoma) were genotyped for GR polymorphisms (BclI, N363S, ER22/23EK, and A3669G). | 24126765 | 2014 |
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|
0.020 | GeneticVariation | BEFREE | The BclI, N363S, ER22/23EK and A3669G polymorphisms of the GR gene probably do not modify the risk for the development of CD or ACS. | 19207316 | 2009 |
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|
0.010 | GeneticVariation | BEFREE | Four potentially pathogenic missense variants in <i>CABLES1</i> were identified, two in young adults (c.532G > A, p.E178K and c.718C > T, p.L240F) and two in children (c.935G > A, p.G312D and c.1388A > G, and p.D463G) with CD; no CNVs were found. | 28533356 | 2017 |
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|
0.010 | GeneticVariation | BEFREE | The outcome measures included the FGFR4 G388R genotype and FGFR4 expression in postoperative remission and recurrence of Cushing's disease. | 20660043 | 2010 |