Disease ID | Disease name | Source of annotation with PTS | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
261640 | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PTS |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Metabolic pathways | hsa01100 | 2.49 |
Folate biosynthesis | hsa00790 | 8.86 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation | R-HSA-1474151 | 9.66 |
Metabolism | R-HSA-1430728 | 2.34 |
eNOS activation and regulation | R-HSA-203765 | 8.81 |
Metabolism of nitric oxide | R-HSA-202131 | 8.81 |
GO term | GO ID | GO IC |
---|---|---|
cation binding | GO:0043169 | 1.4 |
carbon-oxygen lyase activity, acting on phosphates | GO:0016838 | 8.35 |
carbon-oxygen lyase activity | GO:0016835 | 5.46 |
lyase activity | GO:0016829 | 4.53 |
ion binding | GO:0043167 | 1.36 |
catalytic activity | GO:0003824 | 1.05 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
6-pyruvoyltetrahydropterin synthase activity | GO:0003874 | 9.74 |
protein dimerization activity | GO:0046983 | 2.72 |
metal ion binding | GO:0046872 | 1.41 |
identical protein binding | GO:0042802 | 2.63 |
protein homodimerization activity | GO:0042803 | 3.16 |