Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0013421
Disease: Dystonia
Dystonia
0.420 Biomarker GENOMICS_ENGLAND De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. 23435086

2013

Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0013421
Disease: Dystonia
Dystonia
0.420 Biomarker GENOMICS_ENGLAND Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 23176820

2012