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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 |
|---|---|---|---|---|---|
| C0162309 | Adrenoleukodystrophy | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0162309 | Adrenoleukodystrophy | SLC27A5 | 10998 | solute carrier family 27 member 5 | Q9Y2P5 |
| C0162309 | Adrenoleukodystrophy | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0162309 | Adrenoleukodystrophy | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0162309 | Adrenoleukodystrophy | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0162309 | Adrenoleukodystrophy | LPIN1 | 23175 | lipin 1 | Q14693 |
| C0162309 | Adrenoleukodystrophy | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C0162309 | Adrenoleukodystrophy | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C0162309 | Adrenoleukodystrophy | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0162309 | Adrenoleukodystrophy | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0162309 | Adrenoleukodystrophy | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0162309 | Adrenoleukodystrophy | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0162309 | Adrenoleukodystrophy | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0162309 | Adrenoleukodystrophy | CYP4F2 | 8529 | cytochrome P450 family 4 subfamily F member 2 | P78329 |
| C0701163 | Adrenogenital disorder | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C0302280 | Adrenogenital Syndrome | OTOA | 146183 | otoancorin | Q7RTW8 |
| C0302280 | Adrenogenital Syndrome | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0302280 | Adrenogenital Syndrome | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
| C0302280 | Adrenogenital Syndrome | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0302280 | Adrenogenital Syndrome | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0302280 | Adrenogenital Syndrome | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0302280 | Adrenogenital Syndrome | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0206686 | Adrenocortical carcinoma | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0206686 | Adrenocortical carcinoma | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0206686 | Adrenocortical carcinoma | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
