WDR45, WD repeat domain 45, 11152

N. diseases: 72; N. variants: 31
Disease: Seizures ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864309661
rs864309661
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0036572
Disease:
Seizures 		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
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0036572
Disease:
Seizures 		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
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0036572
Disease:
Seizures 		T 0.700 GeneticVariation CLINVAR Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 23176820 2012