EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   1.14.11.18 | Adrenoleukodystrophy |
2408988 |
Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase. |
causal interaction
diagnostic usage
ongoing research
unassigned |
4
3
2
0 |
| 1.14.11.18 | Chondrodysplasia Punctata, Rhizomelic |
9266377 |
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. |
causal interaction
unassigned |
3
0 |
| 1.14.11.18 | Deafness |
3843227 |
Phytanic acid oxidase deficiency in childhood. |
causal interaction
diagnostic usage
unassigned |
4
2
0 |
| 1.14.11.18 | Dementia |
26126179 |
Genes associated with the progression of neurofibrillary tangles in Alzheimer's disease. |
causal interaction
diagnostic usage
unassigned |
1
2
0 |
| 1.14.11.18 | Liver Diseases |
3843227 |
Phytanic acid oxidase deficiency in childhood. |
causal interaction
diagnostic usage
unassigned |
4
2
0 |
| 1.14.11.18 | Lupus Nephritis |
10051602 |
Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-COA alpha-hydroxylase is a new FKBP-associated protein. |
unassigned |
0 |
| 1.14.11.18 | Neoplasms |
31796052 |
Identification of key genes in invasive clinically non-functioning pituitary adenoma by integrating analysis of DNA methylation and mRNA expression profiles. |
causal interaction
unassigned |
4
0 |
| 1.14.11.18 | Parkinson Disease |
26126179 |
Genes associated with the progression of neurofibrillary tangles in Alzheimer's disease. |
causal interaction
diagnostic usage
unassigned |
1
2
0 |
| 1.14.11.18 | Peroxisomal Disorders |
8341225 |
[Chondrodysplasia punctata (the Conradi-Hünermann syndrome). A clinical case report and review of the literature] |
causal interaction
therapeutic application
unassigned |
1
1
0 |
| 1.14.11.18 | phytanoyl-coa dioxygenase deficiency |
2418187 |
Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children. |
unassigned |
0 |
