Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL
CUI: C2751506
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL
0.700 CausalMutation CLINVAR
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
CUI: C1846582
Disease: Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
0.700 CausalMutation CLINVAR
Hereditary retinal dystrophy
CUI: C0154860
Disease: Hereditary retinal dystrophy
0.700 CausalMutation CLINVAR
Hallervorden-Spatz Syndrome
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
0.820 CausalMutation CLINVAR Atypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsions. 15834858 2005
Hallervorden-Spatz Syndrome
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
0.820 GeneticVariation UNIPROT A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia. 27185474 2016
Hallervorden-Spatz Syndrome
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
0.820 GeneticVariation UNIPROT A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. 11479594 2001
Hallervorden-Spatz Syndrome
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
0.820 GeneticVariation BEFREE The PanK2(G521R), the most frequent mutation in pantothenate kinase-associated neurodegeneration, was devoid of activity and did not fold properly. 16272150 2006
Hallervorden-Spatz Syndrome
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
0.820 GeneticVariation UNIPROT Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. 12510040 2003
Hallervorden-Spatz Syndrome
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
0.820 GeneticVariation UNIPROT Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family. 24655737 2014
Hallervorden-Spatz Syndrome
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
0.820 GeneticVariation UNIPROT A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration. 24075960 2013
Hallervorden-Spatz Syndrome
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
0.820 CausalMutation CLINVAR Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations. 22221393 2012
Hallervorden-Spatz Syndrome
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
0.820 CausalMutation CLINVAR Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2. 15659606 2005
Hallervorden-Spatz Syndrome
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
0.820 CausalMutation CLINVAR A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration. 24075960 2013
Hallervorden-Spatz Syndrome
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
0.820 CausalMutation CLINVAR A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. 11479594 2001
Hallervorden-Spatz Syndrome
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
0.820 GeneticVariation BEFREE The patient was found to have two mutations in the pantothenate kinase 2 (PANK2) gene that have been previously associated with pantothenate kinase-associated neurodegeneration: a paternally inherited p.G521R and maternally inherited p.T528M. 23968566 2013
Hallervorden-Spatz Syndrome
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
0.820 CausalMutation CLINVAR Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. 12510040 2003
Hallervorden-Spatz Syndrome
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
0.820 CausalMutation CLINVAR The PanK2(G521R), the most frequent mutation in pantothenate kinase-associated neurodegeneration, was devoid of activity and did not fold properly. 16272150 2006
Hallervorden-Spatz Syndrome
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
0.820 CausalMutation CLINVAR Partial deficit of pantothenate kinase 2 catalytic activity in a case of tremor-predominant neurodegeneration with brain iron accumulation. 16450344 2006
Hallervorden-Spatz Syndrome
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
0.820 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
Hallervorden-Spatz Syndrome
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
0.820 GeneticVariation UNIPROT Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration. 22930366 2013
Hallervorden-Spatz Syndrome
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
0.820 GeneticVariation UNIPROT Atypical Hallervorden-Spatz disease with preserved cognition and obtrusive obsessions and compulsions. 15834858 2005
Dystonia Musculorum Deformans
CUI: C0013423
Disease: Dystonia Musculorum Deformans
0.700 CausalMutation CLINVAR
Dementia
CUI: C0497327
Disease: Dementia
0.700 CausalMutation CLINVAR
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
0.700 CausalMutation CLINVAR
Anarthria speech disorder
CUI: C0234517
Disease: Anarthria speech disorder
0.010 GeneticVariation BEFREE From our series of patients one patient with PKAN and a progressive severe dystonic syndrome, cerebellar ataxia, retinitis pigmentosa and eventual anarthria had a novel combination of two compound heterozygote mutations identified in the PANK2 gene, G-->A transition at base 1238 (G411R) and a C-->A transition at base 1184 (A395E). 16962235 2006