Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 391356
Gene Symbol: PTRHD1
PTRHD1
0.010 GeneticVariation disease BEFREE Together with the previous reports, we provide conclusive evidence that loss-of-function mutations in PTRHD1 cause autosomal-recessive juvenile parkinsonism and intellectual disability. 30398675 2018