Disease ID | Disease name | Source of annotation with TAT | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS276700 | TYROSINEMIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 3 | TAT, HPD, FAH |
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KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Tyrosine metabolism | hsa00350 | 7.64 |
Metabolic pathways | hsa01100 | 2.49 |
Biosynthesis of amino acids | hsa01230 | 6.58 |
Phenylalanine metabolism | hsa00360 | 8.6 |
Ubiquinone and other terpenoid-quinone biosynthesis | hsa00130 | 9.45 |
Cysteine and methionine metabolism | hsa00270 | 7.56 |
Phenylalanine, tyrosine and tryptophan biosynthesis | hsa00400 | 10.45 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism of amino acids and derivatives | R-HSA-71291 | 5.4 |
Phenylalanine and tyrosine catabolism | R-HSA-71182 | 9.66 |
Metabolism | R-HSA-1430728 | 2.34 |
GO term | GO ID | GO IC |
---|---|---|
anion binding | GO:0043168 | 4.17 |
catalytic activity | GO:0003824 | 1.05 |
carboxylic acid binding | GO:0031406 | 4.64 |
L-phenylalanine aminotransferase activity | GO:0070546 | 8.64 |
L-phenylalanine:2-oxoglutarate aminotransferase activity | GO:0080130 | 8.64 |
L-tyrosine aminotransferase activity | GO:0070547 | 9.74 |
transaminase activity | GO:0008483 | 6.74 |
transferase activity | GO:0016740 | 1.95 |
L-tyrosine:2-oxoglutarate aminotransferase activity | GO:0004838 | 9.74 |
cofactor binding | GO:0048037 | 4.16 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
ion binding | GO:0043167 | 1.36 |
amino acid binding | GO:0016597 | 5.71 |
transferase activity, transferring nitrogenous groups | GO:0016769 | 6.65 |
pyridoxal phosphate binding | GO:0030170 | 5.83 |