| Disease ID | Disease name | Source of annotation with LDHB | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 614128 | LACTATE DEHYDROGENASE B DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | LDHB |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Pyruvate metabolism | hsa00620 | 7.45 |
| Propanoate metabolism | hsa00640 | 7.81 |
| Glycolysis / Gluconeogenesis | hsa00010 | 6.64 |
| Metabolic pathways | hsa01100 | 2.49 |
| Cysteine and methionine metabolism | hsa00270 | 7.56 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| The citric acid (TCA) cycle and respiratory electron transport | R-HSA-1428517 | 5.71 |
| Pyruvate metabolism | R-HSA-70268 | 8.52 |
| Pyruvate metabolism and Citric Acid (TCA) cycle | R-HSA-71406 | 7.56 |
| Metabolism | R-HSA-1430728 | 2.34 |
| GO term | GO ID | GO IC |
|---|---|---|
| coenzyme binding | GO:0050662 | 4.53 |
| oxidoreductase activity, acting on CH-OH group of donors | GO:0016614 | 4.83 |
| lactate dehydrogenase activity | GO:0004457 | 7.95 |
| oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | GO:0016616 | 5.0 |
| catalytic activity | GO:0003824 | 1.05 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| enzyme binding | GO:0019899 | 2.27 |
| nucleotide binding | GO:0000166 | 1.96 |
| small molecule binding | GO:0036094 | 1.89 |
| kinase binding | GO:0019900 | 3.32 |
| cofactor binding | GO:0048037 | 4.16 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| NAD binding | GO:0051287 | 5.77 |
| L-lactate dehydrogenase activity | GO:0004459 | 8.13 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| identical protein binding | GO:0042802 | 2.63 |
| oxidoreductase activity | GO:0016491 | 3.12 |