RECQL4, RecQ like helicase 4, 9401

N. diseases: 249; N. variants: 73
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.010 GeneticVariation disease BEFREE Gene variants in the DNA helicase RECQL4 (n = 2) and components of the Fanconi anemia complementation group (FANCD2, FANCF, FANCG) (n = 1) were identified in two alternative lenghtening of telomere-positive/ATRX-intact cases. 29973652 2018