ATP13A2, ATPase cation transporting 13A2, 23400

N. diseases: 160; N. variants: 31
Disease: Facial Myokymia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270871
Disease: Facial Myokymia
Facial Myokymia 		0.110 GeneticVariation phenotype BEFREE Kufor-Rakeb syndrome (KRS)/PARK9 presents with autosomal recessive young onset Parkinson's disease (YOPD), spastic paraparesis, abnormal eye movements and facial myokymia. 29966207 2018
CUI: C0270871
Disease: Facial Myokymia
Facial Myokymia 		0.110 Biomarker phenotype HPO