Disease

Primary Familial Brain Calcification

About the Disease
Basal Ganglia Calcification, Idiopathic, 1, also known as primary familial brain calcification, is related to basal ganglia calcification and parkinsonism, and has symptoms including athetosis, cerebellar ataxia and muscle rigidity. An important gene associated with Basal Ganglia Calcification, Idiopathic, 1 is SLC20A2 (Solute Carrier Family 20 Member 2), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Development EGFR signaling via small GTPases. Affiliated tissues include brain, cortex and caudate nucleus, and related phenotypes are cerebral calcification and hepatomegaly

Common Targets
MYORG | SLC20A2 | JAM2

疾病靶点研报
Primary Familial Brain Calcification

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