| Disease ID | Disease name | Source of annotation with DHTKD1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 204750 | 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | DHTKD1 |
| 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 |
Download the gene annotation in CSV format
| GO term | GO ID | GO IC |
|---|---|---|
| coenzyme binding | GO:0050662 | 4.53 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| thiamine pyrophosphate binding | GO:0030976 | 8.13 |
| vitamin binding | GO:0019842 | 5.34 |
| small molecule binding | GO:0036094 | 1.89 |
| catalytic activity | GO:0003824 | 1.05 |
| oxidoreductase activity, acting on the aldehyde or oxo group of donors | GO:0016903 | 5.87 |
| cofactor binding | GO:0048037 | 4.16 |
| binding | GO:0005488 | 0.18 |
| oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor | GO:0016624 | 7.44 |
| oxoglutarate dehydrogenase (succinyl-transferring) activity | GO:0004591 | 8.35 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| oxidoreductase activity | GO:0016491 | 3.12 |