Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.120 GeneticVariation group BEFREE Statistically significant correlation was found between the presence of parkinsonism with SLC20A2 mutations, headache in PDGFB and generalised tonic-clonic seizures in patients with pseudohypoparathyroidism. 28162874 2017
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.120 GeneticVariation group BEFREE Dopamine transporter single photon emission computed tomography using <sup>123</sup>I-ioflupane and <sup>123</sup>I-metaiodobenzylguanidine cardiac scintigraphy revealed pre-synaptic dopaminergic deficit and cardiac sympathetic nerve dysfunction in two SLC20A2-related PFBC patients with parkinsonism. 28935882 2017
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.120 Biomarker group HPO