RECQL4, RecQ like helicase 4, 9401

N. diseases: 249; N. variants: 73
Disease: Pneumocystis jiroveci pneumonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1535939
Disease: Pneumocystis jiroveci pneumonia
Pneumocystis jiroveci pneumonia 		0.010 GeneticVariation disease BEFREE We present a patient with a molecularly confirmed diagnosis of RTS with two unique genetic alterations in RECQL4 (IVS16-2A>T and IVS2+27_51del25), who at the age of 7 months nearly succumbed to Pneumocystis carinii pneumonia. 16630167 2006