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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 |
|---|---|---|---|---|---|
| C2239176 | Liver carcinoma | CYP4F2 | 8529 | cytochrome P450 family 4 subfamily F member 2 | P78329 |
| C2239176 | Liver carcinoma | PCYT1B | 9468 | phosphate cytidylyltransferase 1, choline, beta | Q9Y5K3 |
| C2076596 | Influenza A (H5N1) | CD14 | 929 | CD14 molecule | P08571 |
| C2047886 | (Idiopathic) normal pressure hydrocephalus | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C2047886 | (Idiopathic) normal pressure hydrocephalus | NCAN | 1463 | neurocan | O14594 |
| C2020284 | Stickler syndrome, type 1 | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C2020284 | Stickler syndrome, type 1 | TECTA | 7007 | tectorin alpha | O75443 |
| C2020284 | Stickler syndrome, type 1 | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C2020284 | Stickler syndrome, type 1 | CEACAM6 | 4680 | CEA cell adhesion molecule 6 | P40199 |
| C2020284 | Stickler syndrome, type 1 | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1970827 | Phosphoribosylpyrophosphate Synthetase Superactivity | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C1970827 | Phosphoribosylpyrophosphate Synthetase Superactivity | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C1970820 | Fabry Disease, Cardiac Variant | GLA | 2717 | galactosidase alpha | P06280 |
| C1970470 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) | SFTPC | 6440 | surfactant protein C | P11686 |
| C1970431 | PITT-HOPKINS SYNDROME | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1970344 | Congenital Disorder Of Glycosylation, Type IIF | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C1970209 | Alzheimer Disease 12 | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C1970200 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 | ST3GAL3 | 6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Q11203 |
| C1970197 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 | TUSC3 | 7991 | tumor suppressor candidate 3 | Q13454 |
| C1970109 | AROMATASE EXCESS SYNDROME | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C1970109 | AROMATASE EXCESS SYNDROME | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C1970109 | AROMATASE EXCESS SYNDROME | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C1970021 | Congenital Disorder Of Glycosylation, Type IIH | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C1970011 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C1969957 | Creutzfeldt-Jakob Disease, Heidenhain Variant | PRNP | 5621 | prion protein | P04156 |
