RMI2, RecQ mediated genome instability 2, 116028

N. diseases: 38; N. variants: 38
Disease: Bloom Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.010 Biomarker disease BEFREE Overall, loss of RMI2 produces a partially active BLM complex with mild features of Bloom syndrome. 27977684 2016