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
dbSNP: rs1057519622
rs1057519622
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C1843367
Disease:
Poor school performance 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057519622
rs1057519622
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1557084239
rs1557084239
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		CA 0.700 CausalMutation CLINVAR
dbSNP: rs1557084491
rs1557084491
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		C 0.700 GeneticVariation CLINVAR Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 23176820 2012
dbSNP: rs1557084491
rs1557084491
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		C 0.700 GeneticVariation CLINVAR Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients. 24368176 2014
dbSNP: rs1557084491
rs1557084491
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		C 0.700 GeneticVariation CLINVAR High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism. 25744623 2015
dbSNP: rs1557084549
rs1557084549
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation. 25592411 2015
dbSNP: rs1557084549
rs1557084549
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report. 28932395 2017
dbSNP: rs1557084549
rs1557084549
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. 23435086 2013
dbSNP: rs1557084549
rs1557084549
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Network organization of the human autophagy system. 20562859 2010
dbSNP: rs1557084549
rs1557084549
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 23176820 2012
dbSNP: rs1557084549
rs1557084549
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Early manifestations of BPAN in a pediatric patient. 25263061 2014
dbSNP: rs1557084549
rs1557084549
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms. 24847269 2014
dbSNP: rs1557084549
rs1557084549
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient. 26173968 2016
dbSNP: rs1557084549
rs1557084549
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. 23687123 2013
dbSNP: rs1557084549
rs1557084549
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain. 24621584 2014
dbSNP: rs1569523502
rs1569523502
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		A 0.700 GeneticVariation CLINVAR High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism. 25744623 2015
dbSNP: rs1569523537
rs1569523537
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		GACTA 0.700 CausalMutation CLINVAR
dbSNP: rs1569523544
rs1569523544
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C3275487
Disease:
X-linked cerebral, cerebellar, coloboma syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1569523565
rs1569523565
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs387907331
rs387907331
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs797046101
rs797046101
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		A 0.700 CausalMutation CLINVAR Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 23176820 2012
dbSNP: rs797046101
rs797046101
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C3550973
Disease:
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs797046101
rs797046101
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C3275487
Disease:
X-linked cerebral, cerebellar, coloboma syndrome 		A 0.700 CausalMutation CLINVAR Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 23176820 2012
dbSNP: rs864309661
rs864309661
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
CUI: C0231221
Disease:
Asymptomatic 		T 0.700 GeneticVariation CLINVAR Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 23176820 2012