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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 |
|---|---|---|---|---|---|
| C1843013 | Alzheimer disease, familial, type 3 | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C1843013 | Alzheimer disease, familial, type 3 | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C1843013 | Alzheimer disease, familial, type 3 | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1843013 | Alzheimer disease, familial, type 3 | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C1843013 | Alzheimer disease, familial, type 3 | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C1843013 | Alzheimer disease, familial, type 3 | CD14 | 929 | CD14 molecule | P08571 |
| C1843013 | Alzheimer disease, familial, type 3 | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C1843013 | Alzheimer disease, familial, type 3 | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1843013 | Alzheimer disease, familial, type 3 | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1843013 | Alzheimer disease, familial, type 3 | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1843013 | Alzheimer disease, familial, type 3 | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1843116 | Bile acid synthesis defect, congenital, 1 | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C1844020 | HETEROTAXY, VISCERAL, 1, X-LINKED | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C1844376 | Granulomatous Disease, Chronic, X-Linked | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C1844376 | Granulomatous Disease, Chronic, X-Linked | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C1844376 | Granulomatous Disease, Chronic, X-Linked | CEL | 1056 | carboxyl ester lipase | P19835 |
| C1844376 | Granulomatous Disease, Chronic, X-Linked | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C1844376 | Granulomatous Disease, Chronic, X-Linked | CAT | 847 | catalase | P04040 |
| C1844376 | Granulomatous Disease, Chronic, X-Linked | SLC27A5 | 10998 | solute carrier family 27 member 5 | Q9Y2P5 |
| C1844677 | DEAFNESS, X-LINKED 1 (disorder) | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C1844678 | Progressive hearing loss stapes fixation | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C1844777 | CONE DYSTROPHY, X-LINKED, 1 | CD48 | 962 | CD48 molecule | P09326 |
| C1844830 | CLEFT PALATE, X-LINKED | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C1844830 | CLEFT PALATE, X-LINKED | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C1844853 | Brachytelephalangic Chondrodysplasia Punctata | STS | 412 | steroid sulfatase | P08842 |
