PANK2, pantothenate kinase 2, 80025

N. diseases: 171; N. variants: 49
Disease: Hallervorden-Spatz Syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs879253712
rs879253712 		1.000 0.080 20 3908224 frameshift variant CTTTTGT/- delins
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0