BANF1, BAF nuclear assembly factor 1, 8815

N. diseases: 86; N. variants: 3
Disease: Progeria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033300
Disease: Progeria
Progeria 		0.030 Biomarker disease BEFREE In particular, we focus on the nuclear lamins and the chromatin-associated protein BAF, which are linked to Hutchinson-Gilford and Nestor-Guillermo progeria syndromes, respectively. 31266244 2019
CUI: C0033300
Disease: Progeria
Progeria 		0.030 Biomarker disease BEFREE Barrier to Autointegration Factor (BANF1): interwoven roles in nuclear structure, genome integrity, innate immunity, stress responses and progeria. 26072104 2015
CUI: C0033300
Disease: Progeria
Progeria 		0.030 Biomarker disease BEFREE These findings reveal BAF as a novel epigenetic regulator and are discussed in relation to BAF deficiency phenotypes, which include a hereditary progeria syndrome and loss of pluripotency in embryonic stem cells. 22127260 2012