PALB2, partner and localizer of BRCA2, 79728

N. diseases: 260; N. variants: 410
Disease: Pancytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.310 Biomarker disease BEFREE Biallelic mutations in these genes cause Fanconi anemia (FA), characterized by malformations, bone marrow failure, chromosome fragility, and cancer predisposition (BRCA2/FANCD1 and PALB2/FANCN), or an FA-like disease presenting a phenotype similar to FA but without bone marrow failure (BRCA1/FANCS). 28837162 2018
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.310 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017