Disease ID | Disease name | Source of annotation with FAH | 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 |
---|---|---|
Metabolic pathways | hsa01100 | 2.49 |
Tyrosine metabolism | hsa00350 | 7.64 |
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 |
---|---|---|
hydrolase activity, acting on acid carbon-carbon bonds, in ketonic substances | GO:0016823 | 8.64 |
hydrolase activity | GO:0016787 | 1.9 |
hydrolase activity, acting on acid carbon-carbon bonds | GO:0016822 | 8.64 |
cation binding | GO:0043169 | 1.4 |
ion binding | GO:0043167 | 1.36 |
fumarylacetoacetase activity | GO:0004334 | 9.74 |
catalytic activity | GO:0003824 | 1.05 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
metal ion binding | GO:0046872 | 1.41 |