| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Multiple fibrofolliculomas
|
0.700 | CausalMutation | CLINVAR | Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. | 28724667 | 2017 | |||||
Multiple fibrofolliculomas
|
0.700 | CausalMutation | CLINVAR | Familial pneumothoraces: Birt-Hogg-Dubé syndrome. | 27906882 | 2016 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Familial pneumothoraces: Birt-Hogg-Dubé syndrome. | 27906882 | 2016 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome? | 25655561 | 2015 | |||||
Multiple fibrofolliculomas
|
0.700 | CausalMutation | CLINVAR | Birt-Hogg-Dubé syndrome with a renal angiomyolipoma: further evidence of a relationship between Birt-Hogg-Dubé syndrome and tuberous sclerosis complex. | 22571569 | 2012 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Birt-Hogg-Dubé syndrome with a renal angiomyolipoma: further evidence of a relationship between Birt-Hogg-Dubé syndrome and tuberous sclerosis complex. | 22571569 | 2012 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Perifollicular fibroma in Birt-Hogg-Dubé syndrome: an association revisited. | 22725638 | 2012 | |||||
Multiple fibrofolliculomas
|
0.700 | CausalMutation | CLINVAR | Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability. | 21538689 | 2011 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. | 22146830 | 2011 | |||||
Multiple fibrofolliculomas
|
0.700 | CausalMutation | CLINVAR | Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. | 22146830 | 2011 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability. | 21538689 | 2011 | |||||
Multiple fibrofolliculomas
|
0.700 | CausalMutation | CLINVAR | Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax. | 18505456 | 2008 | |||||
Neoplastic Syndromes, Hereditary
|
0.700 | CausalMutation | CLINVAR | Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax. | 18505456 | 2008 | |||||
PNEUMOTHORAX, PRIMARY SPONTANEOUS
|
0.700 | CausalMutation | CLINVAR | ||||||||
Multiple fibrofolliculomas
|
0.700 | GeneticVariation | CLINVAR |