HFM1, helicase for meiosis 1, 164045

N. diseases: 39; N. variants: 6
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 		0.040 Biomarker disease BEFREE WRN appears to bind a distinct subpopulation of G4 motifs in human cells, when compared with the related Bloom syndrome RECQ helicase protein. 26984941 2016
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.040 GeneticVariation disease BEFREE Loss-of-function mutations in the human RecQ helicase genes WRN and BLM respectively cause the genetic instability/cancer predisposition syndromes Werner syndrome and Bloom syndrome. 20663905 2010
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.040 GeneticVariation disease BEFREE Bloom syndrome (BS) is caused by homozygous or compound heterozygous mutations in the RecQ DNA helicase gene BLM. 17407155 2007
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.040 Biomarker disease BEFREE The causative gene for BS is the BLM gene which encodes the BLM RecQ helicase protein. 12060858 2002