Table Filtering
Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|---|---|
| C0409818 | Chronic Infantile Neurological, Cutaneous, and Articular Syndrome | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0409818 | Chronic Infantile Neurological, Cutaneous, and Articular Syndrome | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0409818 | Chronic Infantile Neurological, Cutaneous, and Articular Syndrome | PLCG2 | 5336 | phospholipase C gamma 2 | P16885 |
| C0406811 | Reticulate acropigmentation of Kitamura | POFUT1 | 23509 | protein O-fucosyltransferase 1 | Q9H488 |
| C0406811 | Reticulate acropigmentation of Kitamura | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0406810 | Carney Complex | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0406810 | Carney Complex | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0406810 | Carney Complex | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0406810 | Carney Complex | CAT | 847 | catalase | P04040 |
| C0406810 | Carney Complex | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0406810 | Carney Complex | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0406810 | Carney Complex | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0406775 | Symmetrical dyschromatosis of extremities | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0406775 | Symmetrical dyschromatosis of extremities | ARSH | 347527 | arylsulfatase family member H | Q5FYA8 |
| C0406709 | Hay-Wells syndrome | ANXA5 | 308 | annexin A5 | P08758 |
| C0406709 | Hay-Wells syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0406709 | Hay-Wells syndrome | SFTPC | 6440 | surfactant protein C | P11686 |
| C0406500 | Lipodermatosclerosis | TM7SF2 | 7108 | transmembrane 7 superfamily member 2 | O76062 |
| C0406500 | Lipodermatosclerosis | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
| C0405580 | Adrenal cortical hypofunction | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0405580 | Adrenal cortical hypofunction | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0405580 | Adrenal cortical hypofunction | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0405580 | Adrenal cortical hypofunction | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0405580 | Adrenal cortical hypofunction | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0404521 | Infective vaginitis | PSAP | 5660 | prosaposin | P07602 |
