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: rs41279408
rs41279408 		1.000 0.080 20 3923290 missense variant C/T snv 1.2E-04 1.0E-04
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0