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 |
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DisGeNET | July 29, 2024 |
Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0003028 | Anhidrosis | GAL3ST1 | 9514 | galactose-3-O-sulfotransferase 1 | Q99999 |
C0003028 | Anhidrosis | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
C0003028 | Anhidrosis | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
C0003028 | Anhidrosis | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
C0003028 | Anhidrosis | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
C0003028 | Anhidrosis | SPTLC2 | 9517 | serine palmitoyltransferase long chain base subunit 2 | O15270 |
C0002994 | Angioedema | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
C0002989 | Epithelioid hemangioma of skin | LGALS9 | 3965 | galectin 9 | O00182 |
C0002986 | Fabry Disease | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
C0002986 | Fabry Disease | GAA | 2548 | glucosidase alpha, acid | P10253 |
C0002986 | Fabry Disease | AGA | 175 | aspartylglucosaminidase | P20933 |
C0002986 | Fabry Disease | GLA | 2717 | galactosidase alpha | P06280 |
C0002986 | Fabry Disease | GLB1 | 2720 | galactosidase beta 1 | P16278 |
C0002986 | Fabry Disease | IDS | 3423 | iduronate 2-sulfatase | P22304 |
C0002986 | Fabry Disease | GUSB | 2990 | glucuronidase beta | P08236 |
C0002986 | Fabry Disease | IDUA | 3425 | alpha-L-iduronidase | P35475 |
C0002986 | Fabry Disease | ARSA | 410 | arylsulfatase A | P15289 |
C0002986 | Fabry Disease | ARSB | 411 | arylsulfatase B | P15848 |
C0002986 | Fabry Disease | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
C0002986 | Fabry Disease | MANBA | 4126 | mannosidase beta | O00462 |
C0002986 | Fabry Disease | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
C0002986 | Fabry Disease | CTSA | 5476 | cathepsin A | P10619 |
C0002986 | Fabry Disease | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
C0002986 | Fabry Disease | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
C0002986 | Fabry Disease | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
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Last updated: August 19, 2024