DDX11, DEAD/H-box helicase 11, 1663

N. diseases: 44; N. variants: 5
Disease: Dyskeratosis Congenita ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.010 GeneticVariation disease BEFREE FANCJ belongs to a conserved iron-sulfur (Fe S) cluster family of helicases important for genomic stability including XPD (nucleotide excision repair), DDX11 (sister chromatid cohesion), and RTEL (telomere metabolism), genetically linked to xeroderma pigmentosum/Cockayne syndrome, Warsaw breakage syndrome, and dyskeratosis congenita, respectively. 23935105 2013