RAD54L, RAD54 like, 8438

N. diseases: 46; N. variants: 4
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 GeneticVariation disease BEFREE The hRAD54 protein belongs to a superfamily of DNA helicases, and mutations in genes with DNA helicase function have been found to be responsible for cancer-prone syndromes (xeroderma pigmentosum, Bloom syndrome, Werner syndrome). hRAD54 thus could be a candidate modifier gene in tumors characterized by allelic imbalance at 1p32, the chromosome region in which this gene is located. 10640146 2000