RECQL4, RecQ like helicase 4, 9401

N. diseases: 249; N. variants: 73
Disease: Juvenile cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0302254
Disease: Juvenile cataract
Juvenile cataract 		0.010 GeneticVariation disease BEFREE Type 2 RTS, which is defined by the presence of bi-allelic mutations in RECQL4, is characterized by increased cancer susceptibility and skeletal anomalies, whereas the genetic basis of RTS type 1, which is associated with juvenile cataracts, is unknown. 31303264 2019