WDR45, WD repeat domain 45, 11152

N. diseases: 72; N. variants: 31
Disease: Cognitive deterioration ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0854193
Disease: Cognitive deterioration
Cognitive deterioration 		0.010 GeneticVariation disease BEFREE Recently, WDR45 mutations were reported in patients with β-propeller protein-associated neurodegeneration (BPAN), characterized by early intellectual disability followed by delayed progressive motor and cognitive deterioration with onset in the second to third decade. 25263061 2014