PALB2, partner and localizer of BRCA2, 79728

N. diseases: 260; N. variants: 410
Disease: Fanconi Anemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.400 Biomarker disease BEFREE The PALB2 protein is associated with breast cancer susceptibility and Fanconi anemia. 23038782 2012
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.400 Biomarker disease BEFREE The Partner and Localizer of BRCA2 (PALB2) protein has been linked to Fanconi anemia and breast cancer predisposition. 21618343 2011
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.400 Biomarker disease BEFREE In addition, biallelic mutations in BRCA2, BRIP1, and PALB2 cause Fanconi anemia. 17292821 2007
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.400 Biomarker disease BEFREE BReast Cancer Associated proteins 1 and 2 (BRCA1, -2) and Partner and Localizer of BRCA2 (PALB2) protein are tumour suppressors linked to a spectrum of malignancies, including breast cancer and Fanconi anemia. 31017574 2019
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.400 Biomarker disease BEFREE FANCD2, but not FANCJ and FANCN, requires the FA core complex for its recruitment. 19748364 2009
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.400 Biomarker disease GENOMICS_ENGLAND Here we show that a defect in the BRCA2-interacting protein PALB2 is associated with Fanconi anemia in an individual with a new subtype. 17200672 2007
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.400 Biomarker disease BEFREE Fanconi anaemia (FA) has recently become an attractive model to study breast cancer susceptibility (BRCA) genes, as three FA genes, FANCD1, FANCN and FANCJ, are identical to the BRCA genes BRCA2, PALB2 and BRIP1. 17768402 2007
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.400 Biomarker disease LHGDN Here we show that a defect in the BRCA2-interacting protein PALB2 is associated with Fanconi anemia in an individual with a new subtype. 17200672 2007