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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 |
|---|---|---|---|---|---|
| C1839780 | FRAGILE X TREMOR/ATAXIA SYNDROME | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C1839736 | WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C1839735 | MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME | CAT | 847 | catalase | P04040 |
| C1839615 | X-linked myopathy with excessive autophagy | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C1839615 | X-linked myopathy with excessive autophagy | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C1839566 | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C1839413 | Pyruvate Dehydrogenase E1 Alpha Deficiency | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C1839413 | Pyruvate Dehydrogenase E1 Alpha Deficiency | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C1839333 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C1839333 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C1839333 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C1839264 | SPASTIC PARAPLEGIA 2, X-LINKED (disorder) | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C1839259 | Bulbo-Spinal Atrophy, X-Linked | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C1839259 | Bulbo-Spinal Atrophy, X-Linked | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C1839259 | Bulbo-Spinal Atrophy, X-Linked | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C1839259 | Bulbo-Spinal Atrophy, X-Linked | PRNP | 5621 | prion protein | P04156 |
| C1839259 | Bulbo-Spinal Atrophy, X-Linked | GFRA1 | 2674 | GDNF family receptor alpha 1 | P56159 |
| C1839259 | Bulbo-Spinal Atrophy, X-Linked | PRNP | 5621 | prion protein | F7VJQ1 |
| C1839163 | THROMBOCYTOPENIA 1 (disorder) | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C1839163 | THROMBOCYTOPENIA 1 (disorder) | CAT | 847 | catalase | P04040 |
| C1839130 | Dystonia 3, Torsion, X-Linked | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C1838951 | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C1838951 | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C1838951 | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C1838951 | LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
