PANK2, pantothenate kinase 2, 80025

N. diseases: 171; N. variants: 49
Disease: Hallervorden-Spatz Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852962
rs137852962
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
CUI: C0018523
Disease:
Hallervorden-Spatz Syndrome 		0.810 GeneticVariation UNIPROT A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia. 27185474 2016
dbSNP: rs137852962
rs137852962
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
CUI: C0018523
Disease:
Hallervorden-Spatz Syndrome 		0.810 GeneticVariation UNIPROT Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family. 24655737 2014
dbSNP: rs137852962
rs137852962
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
CUI: C0018523
Disease:
Hallervorden-Spatz Syndrome 		0.810 GeneticVariation UNIPROT A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration. 24075960 2013
dbSNP: rs137852962
rs137852962
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
CUI: C0018523
Disease:
Hallervorden-Spatz Syndrome 		0.810 GeneticVariation UNIPROT Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration. 22930366 2013
dbSNP: rs137852962
rs137852962
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
CUI: C0018523
Disease:
Hallervorden-Spatz Syndrome 		0.810 GeneticVariation UNIPROT Atypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsions. 15834858 2005
dbSNP: rs137852962
rs137852962
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
CUI: C0018523
Disease:
Hallervorden-Spatz Syndrome 		0.810 GeneticVariation BEFREE Adult-onset focal dystonia was the presenting sign of pantothenate kinase-associated neurodegeneration (PKAN) in a patient with a novel homozygous missense mutation (C856T). 15390030 2005
dbSNP: rs137852962
rs137852962
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
CUI: C0018523
Disease:
Hallervorden-Spatz Syndrome 		0.810 GeneticVariation UNIPROT Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. 12510040 2003
dbSNP: rs137852962
rs137852962
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
CUI: C0018523
Disease:
Hallervorden-Spatz Syndrome 		0.810 GeneticVariation UNIPROT A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. 11479594 2001
dbSNP: rs137852962
rs137852962
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
CUI: C0018523
Disease:
Hallervorden-Spatz Syndrome 		T 0.810 CausalMutation CLINVAR