ATP13A1, ATPase 13A1, 57130

N. diseases: 3; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0679427
Disease: myeloblastosis
myeloblastosis 		0.010 Biomarker disease BEFREE Among them, miR319, miR171, and miR396g-5p were confirmed via 5'-RACE and qRT-PCR to target a myeloblastosis (MYB) transcription factor gene, a SCARECROW-like protein gene, and a cation transporting ATPase gene, respectively. 30901819 2019
CUI: C1843369
Disease: Vertical supranuclear gaze palsy
Vertical supranuclear gaze palsy 		0.010 GeneticVariation disease BEFREE For example, patients with progranulin, dynactin, or ATP13A gene mutations may have vertical supranuclear gaze palsy. 23720239 2013