Gene: WDR45 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11152
Gene Symbol: WDR45
WDR45 		0.100 CausalMutation phenotype CLINVAR Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report. 28932395 2017
Entrez Id: 11152
Gene Symbol: WDR45
WDR45 		0.100 CausalMutation phenotype CLINVAR Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient. 26173968 2016
Entrez Id: 11152
Gene Symbol: WDR45
WDR45 		0.100 CausalMutation phenotype CLINVAR Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation. 25592411 2015
Entrez Id: 11152
Gene Symbol: WDR45
WDR45 		0.100 CausalMutation phenotype CLINVAR De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain. 24621584 2014
Entrez Id: 11152
Gene Symbol: WDR45
WDR45 		0.100 CausalMutation phenotype CLINVAR Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms. 24847269 2014
Entrez Id: 11152
Gene Symbol: WDR45
WDR45 		0.100 CausalMutation phenotype CLINVAR Early manifestations of BPAN in a pediatric patient. 25263061 2014
Entrez Id: 11152
Gene Symbol: WDR45
WDR45 		0.100 CausalMutation phenotype CLINVAR β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. 23687123 2013
Entrez Id: 11152
Gene Symbol: WDR45
WDR45 		0.100 CausalMutation phenotype CLINVAR 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 		0.100 CausalMutation phenotype CLINVAR Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 23176820 2012
Entrez Id: 11152
Gene Symbol: WDR45
WDR45 		0.100 CausalMutation phenotype CLINVAR Network organization of the human autophagy system. 20562859 2010