| Disease ID | Disease name | Source of annotation with HK1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS118220 | CHARCOT-MARIE-TOOTH DISEASE | ClinVar, OMIM | link to OMIM | 48 | KARS, FIG4, PRPS1, FGD4, MPZ, KIF1B, NEFL, GJB1, VCP, GDAP1, AIFM1, IGHMBP2, SH3TC2, TRIM2, JPH1, PLEKHG5, NEFH, NAGLU, TRPV4, HARS, HSPB8, HSPB1, PMP22, MED25, SPG11, SBF1, DYNC1H1, SURF1, DNM2, NDRG1, MARS, SBF2, RAB7A, MORC2, AARS, COX6A1, PDK3, DHTKD1, HK1, LMNA, LRSAM1, EGR2, PRX, MTMR2, LITAF, MFN2, YARS, GARS |
| 235700 | HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | HK1 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Butirosin and neomycin biosynthesis | hsa00524 | 10.45 |
| Metabolic pathways | hsa01100 | 2.49 |
| Insulin signaling pathway | hsa04910 | 5.55 |
| Carbon metabolism | hsa01200 | 6.03 |
| HIF-1 signaling pathway | hsa04066 | 5.9 |
| Carbohydrate digestion and absorption | hsa04973 | 7.28 |
| Central carbon metabolism in cancer | hsa05230 | 6.7 |
| Galactose metabolism | hsa00052 | 7.72 |
| Fructose and mannose metabolism | hsa00051 | 7.72 |
| Starch and sucrose metabolism | hsa00500 | 6.91 |
| Glycolysis / Gluconeogenesis | hsa00010 | 6.64 |
| Type II diabetes mellitus | hsa04930 | 7.12 |
| Amino sugar and nucleotide sugar metabolism | hsa00520 | 7.15 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| Transmembrane transport of small molecules | R-HSA-382551 | 3.79 |
| Hexose transport | R-HSA-189200 | 7.43 |
| Glycolysis | R-HSA-70171 | 8.03 |
| Metabolism | R-HSA-1430728 | 2.34 |
| SLC-mediated transmembrane transport | R-HSA-425407 | 4.95 |
| Glucose transport | R-HSA-70153 | 7.62 |
| Glucose metabolism | R-HSA-70326 | 6.77 |
| GO term | GO ID | GO IC |
|---|---|---|
| carbohydrate kinase activity | GO:0019200 | 6.74 |
| purine ribonucleoside triphosphate binding | GO:0035639 | 2.22 |
| fructokinase activity | GO:0008865 | 8.13 |
| hexokinase activity | GO:0004396 | 8.13 |
| carbohydrate binding | GO:0030246 | 4.17 |
| mannokinase activity | GO:0019158 | 8.13 |
| binding | GO:0005488 | 0.18 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| nucleoside binding | GO:0001882 | 2.21 |
| glucokinase activity | GO:0004340 | 8.13 |
| nucleotide binding | GO:0000166 | 1.96 |
| 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 |
| 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 |
| monosaccharide binding | GO:0048029 | 5.85 |
| adenyl nucleotide binding | GO:0030554 | 2.4 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| phosphotransferase activity, alcohol group as acceptor | GO:0016773 | 3.08 |
| adenyl ribonucleotide binding | GO:0032559 | 2.41 |
| protein binding | GO:0005515 | 0.46 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |
| purine ribonucleotide binding | GO:0032555 | 2.2 |
| purine ribonucleoside binding | GO:0032550 | 2.22 |
| ribonucleotide binding | GO:0032553 | 2.19 |
| glucose binding | GO:0005536 | 7.25 |