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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 |
|---|---|---|---|---|---|
| C4721453 | Peripheral Nervous System Diseases | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C4721453 | Peripheral Nervous System Diseases | SGPL1 | 8879 | sphingosine-1-phosphate lyase 1 | O95470 |
| C4721453 | Peripheral Nervous System Diseases | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C4721453 | Peripheral Nervous System Diseases | CD1D | 912 | CD1d molecule | P15813 |
| C4721453 | Peripheral Nervous System Diseases | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
| C4721453 | Peripheral Nervous System Diseases | NAMPT | 10135 | nicotinamide phosphoribosyltransferase | P43490 |
| C4721453 | Peripheral Nervous System Diseases | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C4721453 | Peripheral Nervous System Diseases | RPIA | 22934 | ribose 5-phosphate isomerase A | P49247 |
| C4721453 | Peripheral Nervous System Diseases | GCK | 2645 | glucokinase | P35557 |
| C4721453 | Peripheral Nervous System Diseases | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C4721453 | Peripheral Nervous System Diseases | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C4721453 | Peripheral Nervous System Diseases | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C4721453 | Peripheral Nervous System Diseases | CYP2C8 | 1558 | cytochrome P450 family 2 subfamily C member 8 | P10632 |
| C4721453 | Peripheral Nervous System Diseases | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C4721453 | Peripheral Nervous System Diseases | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C4721453 | Peripheral Nervous System Diseases | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C4721453 | Peripheral Nervous System Diseases | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C4721453 | Peripheral Nervous System Diseases | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C4721453 | Peripheral Nervous System Diseases | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C4721453 | Peripheral Nervous System Diseases | GFRA1 | 2674 | GDNF family receptor alpha 1 | P56159 |
| C4721453 | Peripheral Nervous System Diseases | ALOX15 | 246 | arachidonate 15-lipoxygenase | P16050 |
| C4721453 | Peripheral Nervous System Diseases | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C4721453 | Peripheral Nervous System Diseases | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C4721453 | Peripheral Nervous System Diseases | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C4721453 | Peripheral Nervous System Diseases | MTM1 | 4534 | myotubularin 1 | Q13496 |
