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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name ▲ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0520947 | Clumsiness - motor delay | DGKK | 139189 | diacylglycerol kinase kappa | Q5KSL6 |
| C0520947 | Clumsiness - motor delay | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0520947 | Clumsiness - motor delay | HIBCH | 26275 | 3-hydroxyisobutyryl-CoA hydrolase | Q6NVY1 |
| C0520947 | Clumsiness - motor delay | AGRN | 375790 | agrin | O00468 |
| C0520947 | Clumsiness - motor delay | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0520947 | Clumsiness - motor delay | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0520947 | Clumsiness - motor delay | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C0520947 | Clumsiness - motor delay | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0520947 | Clumsiness - motor delay | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0520947 | Clumsiness - motor delay | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0520947 | Clumsiness - motor delay | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0520947 | Clumsiness - motor delay | MBOAT7 | 79143 | membrane bound O-acyltransferase domain containing 7 | Q96N66 |
| C0520947 | Clumsiness - motor delay | LMAN2L | 81562 | lectin, mannose binding 2 like | Q9H0V9 |
| C0520947 | Clumsiness - motor delay | CAT | 847 | catalase | P04040 |
| C0520947 | Clumsiness - motor delay | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0520947 | Clumsiness - motor delay | TECR | 9524 | trans-2,3-enoyl-CoA reductase | Q9NZ01 |
| C0520947 | Clumsiness - motor delay | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0520947 | Clumsiness - motor delay | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0520947 | Clumsiness - motor delay | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0520947 | Clumsiness - motor delay | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0520947 | Clumsiness - motor delay | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C0520947 | Clumsiness - motor delay | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C0520947 | Clumsiness - motor delay | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C0520947 | Clumsiness - motor delay | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0520947 | Clumsiness - motor delay | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
