EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
1.14.14.79 | Blindness |
28453600 |
Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes. |
causal interaction unassigned |
1 0 |
1.14.14.79 | Blindness |
33964374 |
New compound heterozygous CYP4V2 mutations in bietti crystalline corneoretinal dystrophy. |
causal interaction diagnostic usage unassigned |
3 1 0 |
1.14.14.79 | Choroidal Neovascularization |
21850171 |
Molecular screening of the CYP4V2 gene in Bietti crystalline dystrophy that is associated with choroidal neovascularization. |
causal interaction unassigned |
3 0 |
1.14.14.79 | Choroidal Neovascularization |
27028354 |
Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization. |
causal interaction unassigned |
3 0 |
1.14.14.79 | Eye Diseases |
22772592 |
CYP4V2 in Bietti's Crystalline Dystrophy: Ocular Localization, Metabolism of ?-3 Polyunsaturated Fatty Acids and Functional Deficit of the p.H331P Variant. |
causal interaction unassigned |
2 0 |
1.14.14.79 | Eye Diseases |
25118264 |
Generation and characterization of a murine model of Bietti crystalline dystrophy. |
causal interaction unassigned |
4 0 |
1.14.14.79 | Glaucoma |
24856391 |
Ocular cytochrome P450s and transporters: roles in disease and endobiotic and xenobiotic disposition. |
unassigned |
0 |
1.14.14.79 | Leber Congenital Amaurosis |
28453600 |
Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes. |
causal interaction unassigned |
1 0 |
1.14.14.79 | Lymphatic Metastasis |
15897573 |
Cytochrome p450 profile of colorectal cancer: identification of markers of prognosis. |
causal interaction diagnostic usage ongoing research unassigned |
1 4 3 0 |
1.14.14.79 | Macular Degeneration |
31047497 |
Multimodal Imaging for Differential Diagnosis of Bietti Crystalline Dystrophy. |
unassigned |
0 |