WDR45, WD repeat domain 45, 11152

N. diseases: 72; N. variants: 31
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041382
rs886041382
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