WDR45, WD repeat domain 45, 11152

N. diseases: 72; N. variants: 31
Disease: X-linked cerebral, cerebellar, coloboma syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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