Disease ID | Disease name | Source of annotation with AHCY | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
613752 | HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY | OMIM, HUMSAVAR | link to OMIM | 1 | AHCY |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Metabolic pathways | hsa01100 | 2.49 |
Cysteine and methionine metabolism | hsa00270 | 7.56 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Biological oxidations | R-HSA-211859 | 5.55 |
Metabolism of amino acids and derivatives | R-HSA-71291 | 5.4 |
Sulfur amino acid metabolism | R-HSA-1614635 | 8.46 |
Methylation | R-HSA-156581 | 9.66 |
Phase II conjugation | R-HSA-156580 | 6.52 |
Diseases of metabolism | R-HSA-5668914 | 6.57 |
Defective AHCY causes Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) | R-HSA-5578997 | 12.98 |
Metabolism | R-HSA-1430728 | 2.34 |
Metabolic disorders of biological oxidation enzymes | R-HSA-5579029 | 7.85 |
Disease | R-HSA-1643685 | 3.33 |
GO term | GO ID | GO IC |
---|---|---|
hydrolase activity | GO:0016787 | 1.9 |
coenzyme binding | GO:0050662 | 4.53 |
adenyl nucleotide binding | GO:0030554 | 2.4 |
hydrolase activity, acting on ether bonds | GO:0016801 | 7.34 |
NAD binding | GO:0051287 | 5.77 |
GO:0004013 | 8.64 | |
GO:0016802 | 8.64 | |
nucleoside phosphate binding | GO:1901265 | 1.96 |
nucleotide binding | GO:0000166 | 1.96 |
small molecule binding | GO:0036094 | 1.89 |
catalytic activity | GO:0003824 | 1.05 |
cofactor binding | GO:0048037 | 4.16 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
organic cyclic compound binding | GO:0097159 | 1.05 |
purine nucleotide binding | GO:0017076 | 2.19 |
heterocyclic compound binding | GO:1901363 | 1.06 |
identical protein binding | GO:0042802 | 2.63 |