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 |
|---|---|---|---|---|---|
| C0266362 | Ambiguous Genitalia | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0266362 | Ambiguous Genitalia | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0266362 | Ambiguous Genitalia | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0266362 | Ambiguous Genitalia | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0266362 | Ambiguous Genitalia | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0266362 | Ambiguous Genitalia | HSD17B3 | 3293 | hydroxysteroid 17-beta dehydrogenase 3 | P37058 |
| C0266362 | Ambiguous Genitalia | HSD17B7 | 51478 | hydroxysteroid 17-beta dehydrogenase 7 | P56937 |
| C0266362 | Ambiguous Genitalia | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0266362 | Ambiguous Genitalia | DHRS11 | 79154 | dehydrogenase/reductase 11 | Q6UWP2 |
| C0266463 | Lissencephaly | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0266463 | Lissencephaly | STS | 412 | steroid sulfatase | P08842 |
| C0266463 | Lissencephaly | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0266463 | Lissencephaly | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0266476 | Congenital stenosis of aqueduct of Sylvius | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0266483 | Pachygyria | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0266483 | Pachygyria | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0266483 | Pachygyria | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0266483 | Pachygyria | FKTN | 2218 | fukutin | O75072 |
| C0266483 | Pachygyria | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0266483 | Pachygyria | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0266483 | Pachygyria | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0266483 | Pachygyria | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0266483 | Pachygyria | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0266483 | Pachygyria | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0266483 | Pachygyria | FKRP | 79147 | fukutin related protein | Q9H9S5 |
