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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 |
|---|---|---|---|---|---|
| C1850599 | Leigh Syndrome due to Mitochondrial Complex IV Deficiency | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C1850599 | Leigh Syndrome due to Mitochondrial Complex IV Deficiency | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C1850598 | Leigh Syndrome due to Mitochondrial Complex III Deficiency | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C1850598 | Leigh Syndrome due to Mitochondrial Complex III Deficiency | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C1850598 | Leigh Syndrome due to Mitochondrial Complex III Deficiency | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C1850598 | Leigh Syndrome due to Mitochondrial Complex III Deficiency | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C1850597 | Leigh Syndrome Due To Mitochondrial Complex II Deficiency | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C1850597 | Leigh Syndrome Due To Mitochondrial Complex II Deficiency | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C1850597 | Leigh Syndrome Due To Mitochondrial Complex II Deficiency | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C1850597 | Leigh Syndrome Due To Mitochondrial Complex II Deficiency | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C1850555 | De La Chapelle Dysplasia | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C1850554 | Atelosteogenesis type 2 | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C1850554 | Atelosteogenesis type 2 | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C1850554 | Atelosteogenesis type 2 | ANXA5 | 308 | annexin A5 | P08758 |
| C1850451 | CEROID LIPOFUSCINOSIS, NEURONAL, 1 | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C1850442 | CEROID LIPOFUSCINOSIS, NEURONAL, 5 | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C1850362 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B | NYX | 60506 | nyctalopin | Q9GZU5 |
| C1850343 | Mosaic variegated aneuploidy syndrome 1 | CNTN3 | 5067 | contactin 3 | Q9P232 |
| C1850318 | Omodysplasia type 1 | GPC6 | 10082 | glypican 6 | Q9Y625 |
| C1849792 | Achromatopsia 3 | NYX | 60506 | nyctalopin | Q9GZU5 |
| C1849678 | Peroxisomal ACYL-COA oxidase deficiency | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C1849394 | Enhanced S-Cone Syndrome | NYX | 60506 | nyctalopin | Q9GZU5 |
| C1849386 | Myoglobinuria, Acute Recurrent, Autosomal Recessive | LPIN1 | 23175 | lipin 1 | Q14693 |
| C1849322 | Sandhoff Disease, Infantile Type | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
| C1849321 | Sandhoff Disease, Juvenile Type | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
