| Disease ID | Disease name | Source of annotation with PKLR | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 266200 | PYRUVATE KINASE DEFICIENCY OF RED CELLS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PKLR |
| 102900 | ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PKLR |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Maturity onset diabetes of the young | hsa04950 | 8.07 |
| Pyruvate metabolism | hsa00620 | 7.45 |
| Metabolic pathways | hsa01100 | 2.49 |
| Carbon metabolism | hsa01200 | 6.03 |
| Insulin signaling pathway | hsa04910 | 5.55 |
| Purine metabolism | hsa00230 | 5.28 |
| Biosynthesis of amino acids | hsa01230 | 6.58 |
| Glycolysis / Gluconeogenesis | hsa00010 | 6.64 |
| Type II diabetes mellitus | hsa04930 | 7.12 |
| Non-alcoholic fatty liver disease (NAFLD) | hsa04932 | 5.51 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Regulation of gene expression in beta cells | R-HSA-210745 | 8.66 |
| Regulation of beta-cell development | R-HSA-186712 | 7.98 |
| ChREBP activates metabolic gene expression | R-HSA-163765 | 9.98 |
| Glucose metabolism | R-HSA-70326 | 6.77 |
| Integration of energy metabolism | R-HSA-163685 | 6.24 |
| Glycolysis | R-HSA-70171 | 8.03 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Developmental Biology | R-HSA-1266738 | 3.48 |
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| GO term | GO ID | GO IC |
|---|---|---|
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| binding | GO:0005488 | 0.18 |
| nucleotide binding | GO:0000166 | 1.96 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| nucleoside binding | GO:0001882 | 2.21 |
| cation binding | GO:0043169 | 1.4 |
| potassium ion binding | GO:0030955 | 7.03 |
| magnesium ion binding | GO:0000287 | 4.41 |
| ion binding | GO:0043167 | 1.36 |
| transferase activity | GO:0016740 | 1.95 |
| purine nucleoside binding | GO:0001883 | 2.22 |
| ribonucleoside binding | GO:0032549 | 2.22 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| metal ion binding | GO:0046872 | 1.41 |
| ATP binding | GO:0005524 | 2.43 |
| kinase activity | GO:0016301 | 2.93 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| adenyl nucleotide binding | GO:0030554 | 2.4 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| alkali metal ion binding | GO:0031420 | 6.69 |
| phosphotransferase activity, alcohol group as acceptor | GO:0016773 | 3.08 |
| adenyl ribonucleotide binding | GO:0032559 | 2.41 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| pyruvate kinase activity | GO:0004743 | 9.05 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| ribonucleotide binding | GO:0032553 | 2.19 |