rs797046101, WDR45

N. diseases: 5
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
CUI: C3550973
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
0.700 CausalMutation CLINVAR Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 23176820 2012
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
CUI: C3550973
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
0.700 GeneticVariation CLINVAR