WDR45, WD repeat domain 45, 11152

N. diseases: 72; N. variants: 31
Disease: Static encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3662068
Disease: Static encephalopathy
Static encephalopathy 		0.010 Biomarker disease BEFREE Additionally, the X-linked gene WDR45 was found causative for a special subtype named static encephalopathy in childhood with neurodegeneration in adulthood (also called BPAN); however, analysis of this gene in a broader spectrum of NBIA has not been reported yet. 25592411 2015