EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    2.7.1.33 | Abetalipoproteinemia |
14638969 |
Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic. |
causal interaction
unassigned |
1
0 |
| 2.7.1.33 | Abetalipoproteinemia |
25915509 |
Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic. |
causal interaction
ongoing research
therapeutic application
unassigned |
1
2
1
0 |
| 2.7.1.33 | Anemia, Sideroblastic |
15506716 |
[Genetics of hereditary iron overload] |
causal interaction
unassigned |
4
0 |
| 2.7.1.33 | Ataxia |
28821231 |
Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports. |
causal interaction
unassigned |
4
0 |
| 2.7.1.33 | Azoospermia |
15525657 |
Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia. |
causal interaction
ongoing research
unassigned |
3
1
0 |
| 2.7.1.33 | Azoospermia |
17429753 |
Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration. |
ongoing research
unassigned |
4
0 |
| 2.7.1.33 | Azoospermia |
22983956 |
Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model. |
causal interaction
unassigned |
2
0 |
| 2.7.1.33 | Azoospermia |
24316510 |
Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model. |
causal interaction
therapeutic application
unassigned |
3
4
0 |
| 2.7.1.33 | Basal Ganglia Diseases |
21496576 |
Neurodegeneration with brain iron accumulation. |
causal interaction
unassigned |
1
0 |
| 2.7.1.33 | Brain Diseases |
18239249 |
Pantothenate kinase-associated neurodegeneration in two Chinese children: identification of a novel PANK2 gene mutation. |
causal interaction
diagnostic usage
unassigned |
3
2
0 |
