rs80338892, TH

N. diseases: 3
Disease: Parkinsonian Disorders ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.010 GeneticVariation BEFREE The mutation p.Arg233His was predicted to link to the second type of TH deficiency (dopa-responsive infantile parkinsonism with delayed motor development). 28087438 2017