WDR45, WD repeat domain 45, 11152

N. diseases: 72; N. variants: 31
Disease: Dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013421
Disease: Dystonia
Dystonia 		0.420 GeneticVariation phenotype BEFREE WDR45 is an X-linked gene associated with a dominant form of Neurodegeneration with Brain Iron Accumulation (NBIA), manifested by progressive disabilities, dystonia, cognitive decline, spastic paraplegia, neuropsychiatric abnormalities and iron deposition in the basal ganglia on brain imaging. 26096995 2015
CUI: C0013421
Disease: Dystonia
Dystonia 		0.420 Biomarker phenotype GENOMICS_ENGLAND De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. 23435086 2013
CUI: C0013421
Disease: Dystonia
Dystonia 		0.420 GeneticVariation phenotype BEFREE New subtypes of neuronal brain iron accumulation have been delineated and linked to mutations in C19orf12 and WDR45, while a new treatable form of dystonia with brain manganese deposition related to mutations in SLC30A10 has been described. 23757263 2013
CUI: C0013421
Disease: Dystonia
Dystonia 		0.420 Biomarker phenotype GENOMICS_ENGLAND Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 23176820 2012
CUI: C0013421
Disease: Dystonia
Dystonia 		0.420 Biomarker phenotype HPO