Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
BREAST CANCER, SUSCEPTIBILITY TO
|
0.700 | SusceptibilityMutation | CLINVAR | ||||||||
Esophageal atresia with or without tracheoesophageal fistula
|
0.700 | CausalMutation | CLINVAR | ||||||||
FANCONI ANEMIA, COMPLEMENTATION GROUP N
|
0.700 | CausalMutation | CLINVAR | ||||||||
FANCONI ANEMIA, COMPLEMENTATION GROUP N
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | PALB2 mutations in familial breast and pancreatic cancer. | 21365267 | 2011 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | Structural basis for recruitment of BRCA2 by PALB2. | 19609323 | 2009 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. | 17200671 | 2007 | |||||
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 | CausalMutation | CLINVAR | Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. | 26315354 | 2015 | |||||
Malignant neoplasm of breast
|
0.700 | CausalMutation | CLINVAR | PALB2 mutations in familial breast and pancreatic cancer. | 21365267 | 2011 | |||||
Malignant neoplasm of breast
|
0.700 | CausalMutation | CLINVAR | Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy. | 26296701 | 2015 | |||||
Malignant neoplasm of breast
|
0.700 | CausalMutation | CLINVAR | Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. | 17200671 | 2007 | |||||
Malignant neoplasm of breast
|
0.700 | CausalMutation | CLINVAR | Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. | 26681312 | 2016 | |||||
Malignant neoplasm of breast
|
0.700 | CausalMutation | CLINVAR | Breast-cancer risk in families with mutations in PALB2. | 25099575 | 2014 | |||||
Malignant neoplasm of breast
|
0.700 | CausalMutation | CLINVAR | Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. | 26315354 | 2015 | |||||
Malignant neoplasm of breast
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Malignant neoplasm of breast
|
0.700 | CausalMutation | CLINVAR | PALB2 functionally connects the breast cancer susceptibility proteins BRCA1 and BRCA2. | 19584259 | 2009 | |||||
Malignant neoplasm of breast
|
0.700 | CausalMutation | CLINVAR | Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer. | 24415441 | 2014 | |||||
Malignant neoplasm of breast
|
0.700 | CausalMutation | CLINVAR | Structural basis for recruitment of BRCA2 by PALB2. | 19609323 | 2009 | |||||
Malignant neoplasm of breast
|
0.700 | CausalMutation | CLINVAR | Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States. | 20927582 | 2011 | |||||
Malignant neoplasm of breast
|
0.700 | CausalMutation | CLINVAR | Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States. | 20927582 | 2011 | |||||
Malignant neoplasm of breast
|
0.700 | CausalMutation | CLINVAR | Breast-cancer risk in families with mutations in PALB2. | 25099575 | 2014 | |||||
Malignant neoplasm of breast
|
0.700 | CausalMutation | CLINVAR | PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. | 17200668 | 2007 | |||||
Malignant neoplasm of breast
|
0.700 | CausalMutation | CLINVAR | Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls. | 26283626 | 2015 | |||||
Malignant neoplasm of breast
|
0.700 | CausalMutation | CLINVAR | Assessment of PALB2 as a candidate melanoma susceptibility gene. | 24949998 | 2014 | |||||
Malignant neoplasm of breast
|
0.700 | CausalMutation | CLINVAR | Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia. | 26641009 | 2016 |