Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864309661
rs864309661
WDR45
T 0.700 GeneticVariation CLINVAR β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. 23687123

2013
dbSNP: rs864309661
rs864309661
WDR45
T 0.700 GeneticVariation CLINVAR De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. 23435086

2013
dbSNP: rs864309661
rs864309661
WDR45
T 0.700 GeneticVariation CLINVAR Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 23176820

2012