WDR45, WD repeat domain 45, 11152
N. diseases: 72; N. variants: 31
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report. | 28932395 | 2017 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient. | 26173968 | 2016 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation. | 25592411 | 2015 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain. | 24621584 | 2014 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms. | 24847269 | 2014 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Early manifestations of BPAN in a pediatric patient. | 25263061 | 2014 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. | 23687123 | 2013 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. | 23435086 | 2013 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. | 23176820 | 2012 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Network organization of the human autophagy system. | 20562859 | 2010 |